pearls2

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TITLE="Phenylketonuria (PKU)"><U>Phenylketonuria (PKU)</U></A>   |   <A HREF="id31.htm" TARGET="_top" TITLE="food poisoning"><U>food poisoning</U></A>   |   <A HREF="id32.htm" TARGET="_top" TITLE="acute otitis"><U>acute otitis</U></A>   |   <A HREF="id33.htm" TARGET="_top" TITLE="immunization"><U>immunization</U></A>   |   <A HREF="id34.htm" TARGET="_top" TITLE="craniofacial anomaly"><U>craniofacial anomaly</U></A>   |   <A HREF="id35.htm" TARGET="_top" TITLE="chiari malformation"><U>chiari malformation</U></A>   |   <A HREF="id36.htm" TARGET="_top" TITLE="PEDIATRIC RESPIRATORY DISORDERS"><U>PEDIATRIC RESPIRATORY DISORDERS</U></A>   |   <A HREF="id37.htm" TARGET="_top" TITLE="Cephalhematoma "><U>Cephalhematoma </U></A>   |   <A HREF="id38.htm" TARGET="_top" TITLE="Subgaleal Hematoma"><U>Subgaleal Hematoma</U></A>   |   <A HREF="id39.htm" TARGET="_top" TITLE="BIRTH INJURY "><U>BIRTH INJURY </U></A>   |   <A HREF="id40.htm" TARGET="_top" TITLE="infectious in a new born"><U>infectious in a new born</U></A>   |   <A HREF="id41.htm" TARGET="_top" TITLE="jaundice"><U>jaundice</U></A>   |   <A HREF="id42.htm" TARGET="_top" TITLE="INFANT OF DIABETIC MOTHER (IDM) "><U>INFANT OF DIABETIC MOTHER (IDM) </U></A>   |   <A HREF="id43.htm" TARGET="_top" TITLE="FETAL GROWTH "><U>FETAL GROWTH </U></A>   |   <A HREF="id44.htm" TARGET="_top" TITLE="Moebius Syndrome"><U>Moebius Syndrome</U></A>   |   <A HREF="id45.htm" TARGET="_top" TITLE="SHORT STATURE"><U>SHORT STATURE</U></A>   |   <A HREF="id46.htm" TARGET="_top" TITLE="MICROCEPHALIA"><U>MICROCEPHALIA</U></A>   |   <A HREF="id47.htm" TARGET="_top" TITLE="PIERRE ROBIN SYNDROME "><U>PIERRE ROBIN SYNDROME </U></A>   |   <A HREF="id19.htm" TARGET="_top" TITLE="Prenatal Diagnosis"><U>Prenatal Diagnosis</U></A>   |   <A HREF="id28.htm" TARGET="_top" TITLE="Febrile Seizures "><U>Febrile Seizures </U></A>   |   <A HREF="id20.htm" TARGET="_top" TITLE="dvlp bis"><U>dvlp bis</U></A>   |   <A HREF="id21.htm" TARGET="_top" TITLE="DEVELOPMENTAL NEUROLOGIC DISEASES"><U>DEVELOPMENTAL NEUROLOGIC DISEASES</U></A>   |   <A HREF="id22.htm" TARGET="_top" TITLE="GENETIC DISEASES "><U>GENETIC DISEASES </U></A>   |   <A HREF="id26.htm" TARGET="_top" TITLE="angelman syndrome"><U>angelman syndrome</U></A>   |   <A HREF="id23.htm" TARGET="_top" TITLE="TAYSACHS DISEASE"><U>TAY-SACHS DISEASE</U></A>   |   <A HREF="id24.htm" TARGET="_top" TITLE="krabbes disease"><U>krabbe's disease</U></A>   |   <A HREF="id25.htm" TARGET="_top" TITLE="Refsums Disease"><U>Refsum's Disease</U></A>   |   <A HREF="id29.htm" TARGET="_top" TITLE="meningitis"><U>meningitis</U></A>   |   <A HREF="id17.htm" TARGET="_top" TITLE="Contact Me"><U>Contact Me</U></A></div> <div> </div> </td> </tr><tr> <td valign="top" width=190 BGCOLOR="#FFFFFF" TEXT="#080000"> <div> <B> <img src="HTMLobj-238/aniGif.gif" border="0" align="bottom" width="54" height="80">  </B></div> <bR> <bR> <div> <A HREF="id18.htm" TARGET="_top" TITLE="PEARLS 1"><U><B>PEARLS 1</B></U></A></div> <div> <B>pearls2</B></div> <div> <A HREF="id30.htm" TARGET="_top" TITLE="Phenylketonuria (PKU)"><U><B>Phenylketonuria (PKU)</B></U></A></div> <div> <A HREF="id31.htm" TARGET="_top" TITLE="food poisoning"><U><B>food poisoning</B></U></A></div> <div> <A HREF="id32.htm" TARGET="_top" TITLE="acute otitis"><U><B>acute otitis</B></U></A></div> <div> <A HREF="id33.htm" TARGET="_top" TITLE="immunization"><U><B>immunization</B></U></A></div> <div> <A HREF="id34.htm" TARGET="_top" TITLE="craniofacial anomaly"><U><B>craniofacial anomaly</B></U></A></div> <div> <A HREF="id35.htm" TARGET="_top" TITLE="chiari malformation"><U><B>chiari malformation</B></U></A></div> <div> <A HREF="id36.htm" TARGET="_top" TITLE="PEDIATRIC RESPIRATORY DISORDERS"><U><B>PEDIATRIC RESPIRATORY DISORDERS</B></U></A></div> <div> <A HREF="id37.htm" TARGET="_top" TITLE="Cephalhematoma "><U><B>Cephalhematoma </B></U></A></div> <div> <A HREF="id38.htm" TARGET="_top" TITLE="Subgaleal Hematoma"><U><B>Subgaleal Hematoma</B></U></A></div> <div> <A HREF="id39.htm" TARGET="_top" TITLE="BIRTH INJURY "><U><B>BIRTH INJURY </B></U></A></div> <div> <A HREF="id40.htm" TARGET="_top" TITLE="infectious in a new born"><U><B>infectious in a new born</B></U></A></div> <div> <A HREF="id41.htm" TARGET="_top" TITLE="jaundice"><U><B>jaundice</B></U></A></div> <div> <A HREF="id42.htm" TARGET="_top" TITLE="INFANT OF DIABETIC MOTHER (IDM) "><U><B>INFANT OF DIABETIC MOTHER (IDM) </B></U></A></div> <div> <A HREF="id43.htm" TARGET="_top" TITLE="FETAL GROWTH "><U><B>FETAL GROWTH </B></U></A></div> <div> <A HREF="id44.htm" TARGET="_top" TITLE="Moebius Syndrome"><U><B>Moebius Syndrome</B></U></A></div> <div> <A HREF="id45.htm" TARGET="_top" TITLE="SHORT STATURE"><U><B>SHORT STATURE</B></U></A></div> <div> <A HREF="id46.htm" TARGET="_top" TITLE="MICROCEPHALIA"><U><B>MICROCEPHALIA</B></U></A></div> <div> <A HREF="id47.htm" TARGET="_top" TITLE="PIERRE ROBIN SYNDROME "><U><B>PIERRE ROBIN SYNDROME </B></U></A></div> <div> <A HREF="id19.htm" TARGET="_top" TITLE="Prenatal Diagnosis"><U><B>Prenatal Diagnosis</B></U></A></div> <div> <A HREF="id28.htm" TARGET="_top" TITLE="Febrile Seizures "><U><B>Febrile Seizures </B></U></A></div> <div> <A HREF="id20.htm" TARGET="_top" TITLE="dvlp bis"><U><B>dvlp bis</B></U></A></div> <div> <A HREF="id21.htm" TARGET="_top" TITLE="DEVELOPMENTAL NEUROLOGIC DISEASES"><U><B>DEVELOPMENTAL NEUROLOGIC DISEASES</B></U></A></div> <div> <A HREF="id22.htm" TARGET="_top" TITLE="GENETIC DISEASES "><U><B>GENETIC DISEASES </B></U></A></div> <div> <A HREF="id26.htm" TARGET="_top" TITLE="angelman syndrome"><U><B>angelman syndrome</B></U></A></div> <div> <A HREF="id23.htm" TARGET="_top" TITLE="TAYSACHS DISEASE"><U><B>TAY-SACHS DISEASE</B></U></A></div> <div> <A HREF="id24.htm" TARGET="_top" TITLE="krabbes disease"><U><B>krabbe's disease</B></U></A></div> <div> <A HREF="id25.htm" TARGET="_top" TITLE="Refsums Disease"><U><B>Refsum's Disease</B></U></A></div> <div> <A HREF="id29.htm" TARGET="_top" TITLE="meningitis"><U><B>meningitis</B></U></A></div> <div> <A HREF="id17.htm" TARGET="_top" TITLE="Contact Me"><U><B>Contact Me</B></U></A></div> </td> <td valign="top" height=355 BGCOLOR="#FFFFFF" TEXT="#080000"> <div> pearls2</div> <div> A low-birthweight infant presents to his pediatrician at 2 months of age. The mother states that the infant has not been eating well. On physical examination the infant is noted to be pale and tachycardic. The lungs are clear to auscultation and there is no hepatosplenomegaly. A complete blood count (CBC) shows a hemoglobin (Hgb) level of 6 g/dl. Which of the following is the most likely cause of anemia in this infant</div> <div> <B>Anemia of prematurity</B></div> <bR> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Anemia of prematurity occurs in low-birthweight infants approximately 1 to 3 months after birth.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> It is caused by the physiologic effects of the transition from fetal to neonatal life, </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">as well as factors such as shortened red blood cell (RBC) survival,</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> rapid growth, and frequent phlebotomy for blood tests.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Hemoglobin (Hgb) levels in anemia of prematurity are below 7 to 10 g/dl. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Clinical manifestations may include feeding problems, tachypnea, tachycardia, and pallor. </div> <bR> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Megaloblastic anemia of infancy is caused by a <B>deficiency of folic acid and has its peak at 4 to 7 months of age.</B></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Infants with folate deficiency are <B>irritable, have poor weight gain, and have chronic diarrhea.</B></div> <bR> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Newborns with sickle cell anemia <B> rarely exhibit clinical manifestations until 5 to 6 months of age. </B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f00000ff00.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Acute sickle dactylitis (i.e., painful swelling of the hands and feet) is usually the first evidence that sickle cell disease is present in an infant.</B></div> <bR> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The thalassemias are a group of heritable, hypochromic anemias. <FONT SIZE="3" COLOR="#000000" FACE="Symbol" >a</FONT>-Thalassemia </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> is caused by abnormalities in the synthesis of the <FONT SIZE="3" COLOR="#000000" FACE="Symbol" >a</FONT> chains of Hgb, </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">and is manifested as microcytosis of the newborn [mean corpuscular volume (MCV) < 95 <FONT SIZE="3" COLOR="#000000" FACE="Symbol" >m</FONT><FONT SIZE="1" COLOR="#000000" FACE="Arial" >3</FONT>].</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Homozygous <FONT SIZE="3" COLOR="#000000" FACE="Symbol" >b°</FONT>-thalassemia  usually manifests as a <FONT SIZE="3" COLOR="#FF0000" FACE="Arial" ><B>severe, progressive hemolytic anemia in the second 6 months of life, requiring regular blood transfusion.</B></FONT></div> <bR> <div> ====================================================================================================================</div> <bR> <bR> <div> A 7-year-old child presents to his physician with complaints of headache and a stiff neck. A lumbar puncture is performed, and analysis of the cerebrospinal fluid (CSF) is done. Which of the following CSF findings characterizes a viral, rather than a bacterial, meningitis</div> <div> <B>normal glucose</B></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">It is more common for babies to get <FONT SIZE="3" COLOR="#800000" FACE="Arial" >meningitis</FONT><FONT SIZE="3" COLOR="#000000" FACE="Arial" > than adults.</FONT></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> The symptoms maybe fever, nausea, or vomiting. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">They might also have a loss of appetite and sleepiness.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Babies could have blotchy or pale skin.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Other symptoms are moaning cry when handled and uncontrollable jerking.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Symptoms for babies may even include a floppy body.</div> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Viral or aseptic meningitis usually presents with a normal to slightly elevated [not substantially increased ] protein concentration.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The lactate concentration is not elevated </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">. Rather, glucose and lactate concentrations are both normal. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">No organisms are seen on Gram's stain  or routine cultures. White blood cell (WBC) count in the cerebrospinal fluid (CSF) is usually 100 to 700/<FONT SIZE="3" COLOR="#000000" FACE="Symbol" >m</FONT>l, with polymorphonuclears early on [before 48 hours ], then lymphocyte predominance.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Pressures are normal.</div> <div> <IMG SRC="07c49080.gif" border=0 width="585" height="520" ALIGN="BOTTOM" HSPACE="0" VSPACE="0"></div> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Diagnosis is usually based on CSF characteristics, </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">including normal glucose and absence of bacteria on culture. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Viruses (eg, enteroviruses) are occasionally isolated directly from CSF or from other tissues but are identified in fewer than half the cases. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">They can be precisely identified by polymerase chain reaction techniques, which detect specific <FONT SIZE="3" COLOR="#800000" FACE="Arial" >viral</FONT> DNA in CSF. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Alternatively, an increase in specific antibodies in paired acute and convalescent sera can be detected, but this technique is not practical for rapid diagnosis. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Cultures (eg, from the nasopharynx or stool) and attention to epidemic agents in the community may help. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Because of public health implications, serum should be drawn and preserved whenever the diagnosis of encephalitis or aseptic <FONT SIZE="3" COLOR="#800000" FACE="Arial" >meningitis</FONT> of uncertain etiology is first suspected. Information regarding more precise <FONT SIZE="3" COLOR="#800000" FACE="Arial" >viral</FONT> diagnosis can be obtained from local departments of health.</div> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000008000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Viral<FONT SIZE="3" COLOR="#000000" FACE="Arial" > </FONT>Meningitis<FONT SIZE="3" COLOR="#000000" FACE="Arial" > is more common than the bacterial form, </FONT></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">but generally less serious -</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> although it can be very debilitating.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> It can be caused by many different viruses.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Some are spread between people by coughing or sneezing, or through poor hygiene.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Others can be found in sewage-polluted water.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> the incubation period can be up to three weeks.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> In mild cases of <FONT SIZE="3" COLOR="#800000" FACE="Arial" >viral</FONT> <FONT SIZE="3" COLOR="#800000" FACE="Arial" >meningitis</FONT>, people would not even go to their doctor.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> However, as the symptoms are similar to the bacterial form, someone with a severe case of <FONT SIZE="3" COLOR="#800000" FACE="Arial" >viral</FONT> <FONT SIZE="3" COLOR="#800000" FACE="Arial" >meningitis</FONT> will need to be admitted to hospital for test to find out which form they are suffering from.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> The most common causes or <FONT SIZE="3" COLOR="#800000" FACE="Arial" >viral</FONT> <FONT SIZE="3" COLOR="#800000" FACE="Arial" >meningitis</FONT> are <FONT SIZE="3" COLOR="#0000FF" FACE="Arial" ><U>coxsackie and echovirsuses</U></FONT> (known as enteroviruses).</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> It can also develop as a <B>result of infection with</B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> herpes simplex, </B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">measles, polio</B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> or chickenpox. </B></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Mumps <FONT SIZE="3" COLOR="#800000" FACE="Arial" >meningitis</FONT> used to be a complication of mumps, but has virtually been eliminated following the introduction of the MMR (Measles, Mumps and Rubella). </div> <div> Coxsackie</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">coxsackie:Found in the intestines of humans, and therefore in faeces and sewage polluted water, these viruses are the most common causes of <FONT SIZE="3" COLOR="#800000" FACE="Arial" >viral</FONT> <FONT SIZE="3" COLOR="#800000" FACE="Arial" >meningitis</FONT>. Most cases occur in the summer months. </div> <div> Herpes Simplex</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The herpes virus is widespread and usually produces cold sores, but can occasionally cause <FONT SIZE="3" COLOR="#800000" FACE="Arial" >viral</FONT> <FONT SIZE="3" COLOR="#800000" FACE="Arial" >meningitis</FONT> or encephalitis, which is inflammation of the brain itself. </div> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">When left untreated, <FONT SIZE="3" COLOR="#800000" FACE="Arial" >meningitis</FONT> of any etiology, but particularly with the pyogenic and granulomatous forms, may lead to widespread destruction of the brain </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> there is marked hydrocephalus with little remaining cortex. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The only normal appearing structures are the basal ganglia and thalamus. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Characteristically, <FONT SIZE="3" COLOR="#800000" FACE="Arial" >meningitis</FONT>, through retrograde spread, often leads to <B>ependymitis (inflammation of the ependymal lining of the ventricular system)</B>. </div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Consequently, hydrocephalus develops due to blockage of CSF outflow at the level of the aqueduct of Sylvius or the basal cisterns</B>.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Cortical destruction results from both involvement of penetrating vessels and pressure atrophy. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The white matter is often intensely gliotic.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> In its end-stage form, patients who survive severe episodes of <FONT SIZE="3" COLOR="#800000" FACE="Arial" >meningitis</FONT> are often left with </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">mental retardation,</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> paralysis, </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">blindness </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">and/or deafness. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> the rare instance in which ependymitis is the primary pathologic process.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Ependymitis is evidenced by periventricular congestion and hemorrhage. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Also, note the virtual absence of a meningeal reaction.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Cases of primary ependymitis are usually associated with septicemia</div> <div> <IMG SRC="076f4560.jpg" border=0 width="500" height="342" ALIGN="BOTTOM" HSPACE="0" VSPACE="0"><IMG SRC="077f4550.jpg" border=0 width="500" height="341" ALIGN="BOTTOM" HSPACE="0" VSPACE="0">rare instance in which ependymitis is the primary pathologic process. Ependymitis is evidenced by periventricular congestion and hemorrhage. Also, note the virtual absence of a meningeal reaction. Cases of primary ependymitis are usually associated with septicemia. </div> <bR> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Serum C-reactive protein levels reliably distinguish between Gram stain-negative bacterial </B><FONT SIZE="3" COLOR="#800000" FACE="Arial" ><B>meningitis</B></FONT><B> and </B><FONT SIZE="3" COLOR="#800000" FACE="Arial" ><B>viral</B></FONT><B> </B><FONT SIZE="3" COLOR="#800000" FACE="Arial" ><B>meningitis</B></FONT><B> in children</B>, </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Not all different types of <FONT SIZE="3" COLOR="#800000" FACE="Arial" >meningitis</FONT><FONT SIZE="3" COLOR="#000000" FACE="Arial" > have a cure. </FONT></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Bacterial <FONT SIZE="3" COLOR="#800000" FACE="Arial" >meningitis</FONT> is treated with sulfa drugs and antibiotics. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">These antibiotics include<B> penicillin, ampicillin, and cephalosporin</B>.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Tuberculous <FONT SIZE="3" COLOR="#800000" FACE="Arial" >meningitis</FONT> is treated with streptomycin and antituberculous. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">There is no effective treatment for <FONT SIZE="3" COLOR="#800000" FACE="Arial" >viral</FONT> <FONT SIZE="3" COLOR="#800000" FACE="Arial" >meningitis</FONT> though. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Only your immune system can fight <FONT SIZE="3" COLOR="#800000" FACE="Arial" >viral</FONT> <FONT SIZE="3" COLOR="#800000" FACE="Arial" >meningitis</FONT>.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Rest and fluids are used to recover from <FONT SIZE="3" COLOR="#800000" FACE="Arial" >viral</FONT> <FONT SIZE="3" COLOR="#800000" FACE="Arial" >meningitis</FONT> usually. </div> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">One in ten people carry the bacteria that causes <FONT SIZE="3" COLOR="#800000" FACE="Arial" >meningitis</FONT><FONT SIZE="3" COLOR="#000000" FACE="Arial" > usually in the back of the throat.</FONT></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> However, the bacteria does not normally pass into the bloodstream.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> <FONT SIZE="3" COLOR="#800000" FACE="Arial" >Meningitis</FONT> is caused by bacteria, viruses, fungi, and microbes[see<A HREF="id29_meningococcal.htm" TARGET="_top" TITLE="meningitis"><U> meningitis</U></A> page].</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> <FONT SIZE="3" COLOR="#800000" FACE="Arial" >Viral</FONT> <FONT SIZE="3" COLOR="#800000" FACE="Arial" >meningitis</FONT> is caused by a number of different viruses.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Most people are exposed to the viruses that cause <FONT SIZE="3" COLOR="#800000" FACE="Arial" >viral</FONT> <FONT SIZE="3" COLOR="#800000" FACE="Arial" >meningitis</FONT>, but few develop <FONT SIZE="3" COLOR="#800000" FACE="Arial" >viral</FONT> <FONT SIZE="3" COLOR="#800000" FACE="Arial" >meningitis</FONT>. </div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">People with sickle-cell anemia have more of a risk to get </B><FONT SIZE="3" COLOR="#800000" FACE="Arial" ><B>meningitis</B></FONT>.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Children have a greater risk of receiving <FONT SIZE="3" COLOR="#800000" FACE="Arial" >viral</FONT> <FONT SIZE="3" COLOR="#800000" FACE="Arial" >meningitis</FONT> if they have mumps or herpes virus infection. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Maybe in the future, we can create a vaccination to prevent all types of <FONT SIZE="3" COLOR="#800000" FACE="Arial" >meningitis</FONT> so we do not have to worry about it like other diseases now.</div> <div> <IMG SRC="079f0f20.jpg" border=0 width="240" height="242" ALIGN="BOTTOM" HSPACE="0" VSPACE="0">menincoccal meningitis</div> <div> =====================================================================================================================</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Mollaret's (recurrent) <FONT SIZE="3" COLOR="#800000" FACE="Arial" >meningitis</FONT> is characterized by</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> repeated episodes of fever (up to 104°F),</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> meningismus,</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> and severe headache </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">separated by symptom-free intervals.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Individual attacks are sudden,</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> with signs and symptoms reaching maximum intensity within a few hours.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Headache, neck pain, generalized muscle aches, and neck stiffness usually persist from 3 to 6 days, </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">but may be present for up to 3 or more weeks. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Following a number of recurrences, which can span a period of years, the disease suddenly disappears. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The long-term health of the patient seems not to be adversely affected. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Transient neurologic abnormalities (seizures, diplopia, pathologic reflexes, cranial nerve paresis, hallucinations, and coma) occur in as many as 50% of cases</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Mollaret's <FONT SIZE="3" COLOR="#800000" FACE="Arial" >meningitis</FONT> is a syndrome rather than a disease. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">As such, the syndrome of Mollaret's <FONT SIZE="3" COLOR="#800000" FACE="Arial" >meningitis</FONT> appears to have multiple etiologies.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Presently, <B>herpes simplex type II</B>, and to a lesser extent type I, appear to be etiologic in most cases.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Because of the rarity of this syndrome, there are no large clinical trials comparing one therapy against another. </div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">However, acyclovir (intravenous or oral) or valacyclovir (oral only) are worthy</B> of consideration for both therapy and prophylaxis. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">A pain killer is generally administered during the first several days of an attack to reduce patient suffering from the severe headaches, stiffness, and overall body aches produced by the onset of the disease.</div> <bR> <div> <B>Points to Remember</B></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Mollaret's <FONT SIZE="3" COLOR="#800000" FACE="Arial" >meningitis</FONT> is usually a benign (but painful) self-limited, recurrent, and often febrile <FONT SIZE="3" COLOR="#800000" FACE="Arial" >meningitis</FONT>.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Transient neurologic deficits (seizures, cranial nerve paresis, pathologic reflexes) occur in 50% of cases.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Mollaret's may be caused by herpes simplex type II; acyclovir may play a role in prophylaxis and therapy.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Anecdotal patient information as well as scientific evidence suggests <FONT SIZE="3" COLOR="#800000" FACE="Arial" >viral</FONT> <FONT SIZE="3" COLOR="#800000" FACE="Arial" >meningitis</FONT> may be triggered by reduced immune system function, allergic response, stress and depression, as well as exposure to the sun. Recurrent <FONT SIZE="3" COLOR="#800000" FACE="Arial" >meningitis</FONT> sufferers should avoid becoming fatigued or stressed and should avoid excessive exposure to the sun</div> <bR> <div> =====================================================================================================================</div> <div> <B>Primary Intracranial Tumors </B></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Gliomas are the most common intracranial neoplasm, accounting for half of all primary intracranial neoplasms . </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The remainder consist of </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">meningiomas,</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> pituitary adenomas, </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">neurofibromas, </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">and other tumors. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Certain tumors, especially</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> neurofibromas, </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">hemangioblastomas,</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> and retinoblastomas, </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">may have a familial basis, and congenital factors bear on the development of craniopharyngiomas. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Tumors may occur at any age, but certain gliomas show particular age predilections</div> <bR> <bR> <div> ====================================================================================================================</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The clinical manifestations are listed here;</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> hepatomegaly,</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> splenomegaly, </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">hyperbilirubinemia.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Generalized diffuse infection with CMV virus;</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> the various manifestations you see here;<B> cerebral calcifications</B>. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">A big deal is made by the difference of these <B>calcifications and toxoplasmosis,</B> and it’s a good Board question. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">These are supposedly<B> periventricular whereas in toxoplasmosis they are more diffuse.</B> </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">But that’s not hard and fast. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The other manifestations are<B> hemolytic anemia and interstitial pneumonia.</B> </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">This is a picture of a baby with severe involvement with marked petechial lesions throughout. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Congenital anomalies with CMV compared to, for example rubella, actual anomalies are not that clear-cut.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Cardiovascular anomalies, even though there is heart disease, it has no real pattern and it can involve all types of heart defects.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Whereas with rubella you have some very specific cardiac defects. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The other findings;</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> hypospadias,</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> gastrointestinal things such as duplications and musculoskeletal defects.</div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> But in general, the main manifestations of CMV are acute active infection involving what I showed you previously. </B></div> <bR> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The diagnosis of CMV historically <B>was looking for inclusion cells in the urine</B>, and I’m sure nobody these days even knows what that is. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">That inclusion cells were<B> epithelial cells, renal tubular epithelial cells, infected with virus and giving a typical cytopathic effect.</B> </div> <div> <FONT SIZE="3" COLOR="#FF0000" FACE="Arial" ><B><IMG BORDER="0" SRC="Symb075c00b700f00000ff00.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">So the main method of diagnosis is viral isolation</B></FONT><B>.</B> </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">But the important thing in a newborn baby is you need to do this immediately. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Two weeks later you don’t know whether that infection occurred after birth and therefore not a congenital infection.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> So one of the major things is that if you suspect congenital infection and CMV, look for virus immediately</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">. Now in this day and age<B> PCR can also be done as can direct antigen tests, but the definitive test is virus isolation.</B> </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">T<B>he places are urine, throat, CSF and really should add blood, buffy coat of the blood as well.</B> </div> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The next is<B> serology. IgM </B>… we’ve gone overboard with IgM assays and the right assay IgM positive indicates recent infection and is a very useful test.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> But there are frequent false positives and there are occasional false negatives. </div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The false negatives are when there are very high IgG values</B>.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> But false positives actually are much more common, both in pregnant women and also occasionally in babies. So you really want to go for culture.</div> <bR> <div> =======================================================================================================================</div> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Many commonly used drugs (including nonprescription drugs) should be avoided in the nursing mother because they are detectable in breast milk and may cause effects in the infant. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The polyene antifungal agent,<B> nystatin,</B> is used by local administration in candidal infections of the oropharyngeal cavity and the urogenital system (e.g., vaginal yeast infections). </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">By this mode of administration, nystatin is not absorbed into the systemic circulation and is not present in breast milk. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">All of the other drugs listed necessitate systemic absorption. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Drugs to be avoided in the nursing mother include central nervous system (CNS)-active drugs [e.g., stimulants and depressants, including benzodiazepines, ethanol, and amphetamine </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">, certain antibiotics [tetracyclines  quinolones],</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> the methylxanthines [caffeine, theophylline ], </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">the antithyroid drugs [methimazole ,</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> propylthiouracil], and the glucocorticoids.</div> <div> =====================================================================================================================</div> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Werdnig-Hoffmann disease is a <B>spinal muscular atrophy of unknown cause.</B></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> It is inherited in an autosomal recessive fashion. Infants can be symptomatic at birth. </div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Sparing of the extraocular muscles and sphincters is characteristic</B>. </div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Fasciculations are a sign of denervation of muscle and are best seen in the tongue.</B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Infants assume a flaccid "frog-leg'' posture</B>. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Most die by 2 years of age. </div> <bR> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">A neonatal form of myotonic dystrophy  appears in infants born to mothers with myotonic dystrophy. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Clubfoot and contractures are common.</div> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Fasciculations are not seen. Infant botulism has a peak onset at 2 to 6 months of age. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Sources for spores include honey, corn syrup, soil, and dust.</div> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Infantile myasthenia gravis  can be transient—as in those infants born of mothers with myasthenia gravis—or, very rarely, congenital. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Fasciculations are not seen and the extraocular muscles are not spared. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Duchenne's muscular dystrophy  is rarely symptomatic at birth.</div> <div> =====================================================================================================================</div> <div>  </div> <div> Communicable Disease Fact Sheets</div> <div> --------------------------------------------------------------------------------</div> <div>  </div> <bR> <div>  </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">AIDS and HIV  </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Hepatitis B </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Rabies </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Arboviral Encephalitis </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Hepatitis C  </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Ringworm (Tinea) </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Chickenpox </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Herpes</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Rubella </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Chlamydia  </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Histoplasmosis  </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Salmonellosis  </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Conjunctivitis ("Pink Eye") </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Impetigo </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Scabies  </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Cryptosporidiosis </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Kawasaki </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Scarlet Fever  </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Cytomegalovirus (CMV)  </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Legionellosis</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">(Legionnaire Disease) </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Shigellosis </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Diphtheria</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Lyme Disease </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Strep Throat  </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">E. coli O157:H7  </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Malaria </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Syphilis  </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Fifth Disease </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">(Erythema Infectiosum) </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Measles </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Toxoplasmosis  </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Giardiasis </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Meningococcal Disease </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Tuberculosis  </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Gonorrhea </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Mononucleosis </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Typhoid Fever  </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Haemophilus influenzae type b (Hib) Disease </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Mumps </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Viral Meningitis </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Hand, Foot, and Mouth Disease (Coxsackievirus) </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Mycoplasma Warts,</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Genital  </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Head Lice Pertussis (Whooping Cough) </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> West Nile Virus </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Hepatitis A  </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Pneumococcal Disease   </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Hepatitis B Carrier </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Psittacosis   </div> <div>  <FONT SIZE="3" COLOR="#FF0000" FACE="Arial" ><B>_____________________________________________________________________________________________________________________</B></FONT></div> <bR> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> <B>Phenylketonuria (PKU) is caused by a deficiency in phenylalanine hydroxylase.</B></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> The normal pathway is disrupted, so phenylalanine and other metabolites accumulate and cause brain damage.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Clinically, affected infants are</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> blond, </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">with fair skin</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> and blue eyes.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> A mild eczematous rash disappears with age. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Vomiting can be confused with pyloric stenosis. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Mental retardation is usually severe. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The infants have a musty, mousey odor of phenylacetic acid.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> <B>Screening is recommended after 72 hours of age and after feeding of proteins.</B></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Early institution of a diet low in phenylalanine is essential in preventing brain damage. </div> <bR> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Women who have PKU and want to have children should go on a low-phenylalanine diet before conception and throughout pregnancy to reduce the risk of spontaneous abortion and birth defects. </B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f00000ff00.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The blood phenylalanine levels should be kept below 10 mg/dl throughout pregnancy.</B><FONT SIZE="3" COLOR="#000000" FACE="Arial" > </FONT></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Pregnant women with PKU and phenylalanine levels greater than 10 mg/dl  have a higher risk of<B> spontaneous abortions</B>.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Infants born to such mothers may have</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> mental retardation, </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">microcephaly, </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">and/or a congenital heart anomaly.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Blood levels of 5 mg/dl are below the risk level.</div> <bR> <div> =======================================================================================================================</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Croup, or laryngotracheobronchitis, <B>is most common between 6 months and 6 years of age.</B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> </B>Caused primarily by <B>parainfluenza virus,</B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> it typically presents with prodromal symptoms of an upper respiratory infection.</B> </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The child then develops fever and a brassy, barking, seal-like cough, with intermittent inspiratory stridor.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Acute respiratory distress can develop.</div> <bR> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Pertussis usually occurs in unimmunized infants and is usually preceded by a<B> prodromal catarrhal stage with conjunctivitis.</B></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Spasms of coughing end with an inspiratory whoop</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">. In younger infants, the whoop is not present and the signs are more subtle (e.g., apnea and cyanosis). </div> <bR> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Acute epiglottitis  is more common in the <B>3- to 7-year age-group</B>.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Drooling is usually present, but the <B>barking cough is absent.</B></div> <bR> <bR> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> </B>Bronchiolitis and asthma can present with retractions of the intercostal muscles and nasal flaring, but wheezing is usually present.</div> <div> =====================================================================================================================</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Alport's syndrome is the most common of the hereditary nephritides.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Patients develop glomerulonephritis that progresses to renal failure.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Some patients develop hearing loss. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Approximately 10% have eye abnormalities such as cataracts. </div> <div> <B>Alport's syndrome—glomerulonephritis</B></div> <bR> <bR> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Leopard syndrome  is autosomal dominant. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">It consists of </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">lentigines, </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">electrocardiogram (ECG) abnormalities, </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">ocular hypertelorism,</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> pulmonary stenosis, </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">abnormal genitalia, </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">growth retardation, </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">and sensorineural deafness.</div> <bR> <bR> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Pendred's syndrome  is an autosomal recessive disorder </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">characterized by deafness and goiter.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> The goiter appears at puberty and, although most patients are </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">euthyroid,</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> hypothyroidism can occur.</div> <bR> <bR> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Usher's syndrome  is characterized by</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> deafness, </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">mental retardation, </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">seizures,</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> retinitis pigmentosa, </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">and cataracts.</div> <bR> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Waardenburg's syndrome  is autosomal dominant. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Affected persons have a</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> white forelock, </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">patches of hyperpigmentation, </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">defective hearing, </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">and lateral displacement of the inner canthi.</div> <div> =====================================================================================================================</div> <div> Principles of Newborn Screening</div> <div> Disorders in which symtoms would not be clinically present until irreversible damage occurred and for which there is an effective treatment. </div> <div> Prevalence of the disorder in the population. </div> <div> Simple collection method. </div> <div> Reproducible with few false positives/negatives.. </div> <div> High benefit-to-cost ratio. </div> <div> Means of follow up of abnormal results. </div> <div> Specimen Collection</div> <div> Dried filter paper blood spots. </div> <div> Infant < 72 hrs of age and preferably after 24 hours of protein feeding. </div> <div> Obtained prior to blood transfusion. </div> <div> Avoid cross-contamination. </div> <div> Problems with early discharge. </div> <div> State Mandated Newborn Screening</div> <div> PKU and Congenital Hypothroidism -- all 50 states. </div> <div> Galactosemia - 44 states; maple syrup urine disease - 23 states; homocystinuria - 21 states; biotinidase deficiency - 16 states; sickle cell disease - 42 states; tyrosinemia - 7 states. </div> <div> Other states have added congenital toxoplasmosis, congenital adrenal hyperplasia, cystic fibrosis. </div> <div> California Newborn Screen: </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">PKU </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Galactosemia </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Hypothyroidism </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Sickle Cell and other Hemoglobinopathies </div> <div> Metabolic Disorders</div> <div> PKU </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Amino acid disorder </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Enzyme deficiency - phenylalanine hydroxylase </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Failure in conversion of phenylalanine to tyrosine </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Incidence: 1:12,000 live births in US </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Accumulation of phenylalanine: </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Classic PKU => 20 mg/dL with normal or reduced level of tyrosine </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Atypical PKU = 12-20 mg/dL </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Mild persistent hyperphenylalaninemia=levels 2-12 mg/dL </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Can result from deficiency of cofactor tetrahydrobiopterin (BH4) </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Symptoms </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Developmental delay </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Severe mental reatrdation </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Seizures </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Autism </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Eczema </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Hyperactivity </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Aggressive behavior </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Treatment </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Phenylalanine restricted diet instituted by 3 weeks of age </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Frequent monitoring of blood levels and diet adjustments </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Cofactor defects require BH4 replacement and neurotransmitter precursors L-dopa and 5- hydroxytryptophan </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Outcome </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Early treatment prevents mental retardation and neurologic abnormalities, learning disabilities still present </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Continuation of diet indefinitely is recommended to prevent decreases in IQ and maternal PKU (microcephaly, congenital heart disease, IUGR) </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Treatment of cofactor deficiencies has not prevented the mental retardation or neurologic abnormalities </div> <div> Congenital Hypothyroidism </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Incidence in US: 1:3,600-5,000 live births </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Measure T4/TSH -- if levels are below lab cutoff, repeat specimen requested </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">10% cases can be missed by sampling errors </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Normal variations in premature, maternal antithyroid medication, exposure to topical iodine,hypoalbuminemia -- test may need to be repeated </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Symptoms </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Mental retardation </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Neurologic abnormalities </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Metabolic symptoms of hypothyroidism </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Treatment </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">L-thyroxine to maintain T4 levels in the upper half of the normal range </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Treatment within first 3 months of life associated with prevention of mental retardation and complications of the disease </div> <div> Galactosemia </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Prevalence 1:40,000 live births </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Deficiency of galactose-1-phosphate uridyltransferase </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Symptoms of untreated galactosemia </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Lethargy </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Feeding intolerance </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Vomiting </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Hyperbilirubinemia </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Liver dysfunction with coagulopathy </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">25% will develop sepsis in first 1-2 weeks if untreated </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Screening: measure galactose and galactose-1-phosphate; confirmation by measurement of the enzyme in erythrocytes </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Treatment </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Dietary lactose restriction at time of diagnosis </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Evaluate for sepsis immediately and treat promptly to prevent complications of mental retardation, cataracts, and cirrhosis </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Outcome </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Speech abnormalities </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Behavior problems </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Visual perceptual learning abnormalities </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Ovarian failure (recently described complication in girls) </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Three other inborn errors of galactose metabolism are known </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Variant forms of transferase deficiency occur with 10-35% of normal transferase activity. baby usually asymptomatic </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Galactokinase deficiency: incidence 1:1 million live births </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Cataracts </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Uridinediphosphate-galactose-4-epimerase deficiency: asymptomatic or have classical galactosemia </div> <div> Sickle Cell Disease and other hemoglobinopathies </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Includes hemoglobin SS disease, hemoglobin SC, and sickle-thalassemaia -- all result from abnormal Beta-chains of hemoglobin. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Incidence in blacks approx. 1:400 </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Symptoms </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Severe anemia </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Hypoplastic crises induced by infection </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Overwhelming sepsis </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Pneumonia or meningitis </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Sudden and massive splenic sequestration </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Chronic debilitation </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Screening: hemoglobin electrophoresis by cord blood or dried filter paper blood spot. No false positives seen. Early diagnosis may not effect outcome of this disease. May afford early treatment of complications and allow for genetic counseling and reproductive choices </div> <div> Glucose-6-Phosphate Dehydrogenase Deficiency </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Incidence: 1:100-1:10 for Mediterranean, African and American Black; 1:50-1:33 for Southeast Asian </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Sex-linked affecting primarily males; females variably affected </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Hemolytic disorder -- enzyme deficient RBCs are unable to protect against oxidative effects of infection or certain drugs where accumulation of peroxides causes breakdown of red cell membrane, enzymes and hemoglobin </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Severe hemolysis and hyperbilirubinemia is seen only in Caucasions and Asians; blacks less severely affected </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Treatment </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Prevent kernicterus by managing hyperbilirubinemia with exchange transfusion or phototherapy. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Replace red cells if significant anemia </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Screening is by fluorescent spot test which measures the absence of the enzyme; confirm diagnosis by quantitative analysis </div> <div> Gamma-Glutamyl Cycle Disorders </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Glutathione (GSH) is an intermediary in the gamma-glutamyl cycle, normally found in erythrocytes in high concentrations </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Role of GSH: transport of amino acids across cell membranes and reductant of toxic peroxidases, protecting hemoglobin against destructive effect of oxidation </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Several Gamma-Glutamyl disorders associated with decreased levels of GSH </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Symptoms </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Vomiting </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Diarrhea </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Abdominal pain </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">If untreated congenital non-spherocytic anemia, metabolic acidosis, or pyroglutamic aminoaciduria </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Autosomal recessive </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Screening spot test: measures the presence of reduced glutathione </div> <div> Congenital Adrenal Hyperplasia </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Autosomal recessive disorder in the biosynthesis of adrenal corticoids due to a deficiency of one of several enzymaic systems required for complete steroid biogenesis </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Most common form of CAH is due to 21-hydroxylase deficiency (90% of cases); in 2/3 increased androgen production </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Females: ambiguous genitalia and salt-losing crises. Milder forms -- premature sexual hair development, acne, hirsutism, acceleration of growth </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Incidence: 1:10000-1:15000 live births; higher in southwestern Alaska Eskimos </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Screening test measures level of 17-hydroxyprogesterone in the dried filter paper blood spot. Affected infants have high levels. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">False positives seen in prematurity and low birth weight, also illness, early screening (<24 hrs of age) </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Rationale for screening: early treatment to prevent complications seen in undiagnosed affected newborns, incorrect sex assignment in females, prevention of salt losing crisis </div> <div> Maple Syrup Urine Disease </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Deficiency of branched--chain ketoacid dehydrogenase that results in the accumulations of the branched-chain amino acids leucine, isoleucine and valine and their respective ketoacids </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Incidence: 1:200,000 live births </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Infants appear normal at birth; if untreated, by end of first week develop feeding intolerance, vomiting and lethargy. Progresses to severe ketoacidosis and death. If survives the neonatal period, mental retardation and neurologic impairment develop. Milder form also exists. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Screening: test for leucine by bacterial inhibition assay on dried blood filter paper </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">All deaths and morbidity can not be prevented since results of test may not be available soon enough </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Treatment: diet restriction; peritoneal dialysis may be necessary in ketoacidosis </div> <div> Homocystinuria </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Deficiency of enzyme cystathionine synthase that catalyzes the conversion of homocysteine to cystathionine, with accumulation of toxic levels in blood or urine </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Incidence: 1:100,000-1:200,000 </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Untreated can lead to mental retardation, marfanoid body, dislocation of lenses of eye, osteoporosis, thromboembolic disease </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">1/2 are pyridoxine sensitive </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Screening test measures methionine in dried filter paper specimen. May not have rise in methionine in first few days -- confirmation by blood and urine amino acids </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Treatment with pyroxidine is effective for that form of the disorder, also, methionine restricted diet </div> <div> Biotinidase deficiency </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Enzyme necessary for recycling of biotin which activates the four mitochondrial carboxylases </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Incidence: 1:40:000 </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">If untreated, patients present in early months to years with alopecia, skin rashes, fungal skin infections, seizures, developmental delay, hypotonia, ataxia, hearing deficit, and visual abnormalities. Organic aciduria and ketoacidosis can occur later. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Screening : colorimetric assay for biotinidase on dried filter paper blood spot. Confirmation of diagnosis by serum levels </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Treatment with oral biotin eliminates some of physical and neurologic abnormalities </div> <div> Cystic fibrosis </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Incidence: 1:2000 Caucasian </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Most common lethal inherited metabolic disorder in whites </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Causes severe pulmonary disease and pancreatic insufficiency, hepatic cirrhosis </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Autosomal recessive </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Screening </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Measurement of immunoreactive trypsin (IRT) in the dried filter paper blood spot. Affected newborns have elevated levels. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Second test is usually requested in 2 weeks if first positive. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">If second test positive, infant referred for sweat test for definitive diagnosis. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Increased false negative rate in infants with meconium ileus; 5%-10% with cystic fibrosis may have normal IRT when first tested. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Some recommend combination of IRT, sweat test and genetic mutation analysis for primary or recall testing. One study showed increased incidence of false positives using the IRT/sweat test protocol vs IRT/DNA test -- costs were similar </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Does early detection prevent mortality and morbidity? </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Proposed benefits: shorter hospitalization, better weight gain, fewer chest infections, identification of couples at risk for counseling </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Risks: psychological stress for families awaiting diagnosis, possible errors in diagnosis, complications of early antibiotic therapy </div> <div> Toxoplasmosis </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Toxoplasma gondii -- parasite that can cause intrauterine infection with transmission to fetus by transplacental-fetal hematogenous route; organism invades brain, eye and striated muscle forming tissue cysts </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Incidence of congenital infection 1:1000 live births </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Transmission rate increases with progression of gestation; infections transmitted during early gestation cause more severe fetal effects -- abortion, stillbirth, teratogenesis. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">In fetus or neonate typically CNS and/or eyes involved. Classic triad: obstructive hydrocephalus, chorioretinitis, intracranial calcification. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Risk factor - cats vector, unpasteurized milk , undercooked meats, blood transfusion </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Screening-measurement of toxoplasma-specific IgM in the dried filter paper blood spot. Identified infants referred to ID specialists of evaluation and early institution of therapy </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">No studies yet available to determine benefits of early detection and treatment </div> <div> Conclusions</div> <div> Changes in newborn screening programs </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Addition of several newer disorders </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Duchenne Muscular Dystrophy </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Congenital AIDS </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Neuroblastoma </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Alteration in basic principles </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Uncertainty about true benefit to early detection and therapy </div> <div> Advances in molecular genetics </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Diagnosis by DNA mutation analysis, using allele-specific oligonucleotide probes </div> <div> Issues related to false positives/negatives </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Need for repeat specimens </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Caution in making diagnosis </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Screening tests are not diagnostic -- additional definitive testing needed </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Necessary to confirm or rule out </div> <div> Problems with early discharge </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Need for close follow up and repeat specimens </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Insufficient time for ingestion of protein for amino acid elevations </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Still mandatory that blood specimens be obtained prior to discharge and repeated in 2 weeks </div> <div> =====================================================================================================================</div> <div> Physical Maturity</div> <div> <TABLE BORDER="2" CELLPADDING="1" CELLSPACING="1" WIDTH="1101" BORDERCOLORLIGHT="#C0C0C0" BORDERCOLORDARK="#808080" FRAME="BOX" RULES="ALL" ALIGN="BOTTOM" HSPACE="0" VSPACE="0" BGCOLOR=#000066 > <tR> <tD VALIGN=CENTER HEIGHT= 19 WIDTH="88"><div> Sign </div> </tD> <tD VALIGN=CENTER WIDTH="116"><div> -1 </div> </tD> <tD VALIGN=CENTER WIDTH="131"><div> 0 </div> </tD> <tD VALIGN=CENTER WIDTH="148"><div> 1 </div> </tD> <tD VALIGN=CENTER WIDTH="140"><div> 2 </div> </tD> <tD VALIGN=CENTER WIDTH="150"><div> 3 </div> </tD> <tD VALIGN=CENTER WIDTH="176"><div> 4 </div> </tD> <tD VALIGN=CENTER WIDTH="107"><div> 5 </div> </tD> </tR> <tR> <tD VALIGN=CENTER HEIGHT= 57 WIDTH="88"><div> Skin </div> </tD> <tD VALIGN=CENTER WIDTH="116"><div> Sticky, friable, transparent </div> </tD> <tD VALIGN=CENTER WIDTH="131"><div> Gelatinous red, translucent </div> </tD> <tD VALIGN=CENTER WIDTH="148"><div> Smooth pink, visible veins </div> </tD> <tD VALIGN=CENTER WIDTH="140"><div> Superficial peeling and/or rash, few veins </div> </tD> <tD VALIGN=CENTER WIDTH="150"><div> Cracking, pale areas, rare veins </div> </tD> <tD VALIGN=CENTER WIDTH="176"><div> Parchment, deep cracking, no vessels </div> </tD> <tD VALIGN=CENTER WIDTH="107"><div> Leathery, cracked, wrinkled </div> </tD> </tR> <tR> <tD VALIGN=CENTER HEIGHT= 19 WIDTH="88"><div> Lanugo </div> </tD> <tD VALIGN=CENTER WIDTH="116"><div> None </div> </tD> <tD VALIGN=CENTER WIDTH="131"><div> Sparse </div> </tD> <tD VALIGN=CENTER WIDTH="148"><div> Abundant </div> </tD> <tD VALIGN=CENTER WIDTH="140"><div> Thinning </div> </tD> <tD VALIGN=CENTER WIDTH="150"><div> Bald areas </div> </tD> <tD VALIGN=CENTER WIDTH="176"><div> Mostly bald </div> </tD> <tD VALIGN=CENTER WIDTH="107"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="19" ALIGN="bottom" WIDTH="107" HSPACE="0" VSPACE="0"></tD> </tR> <tR> <tD VALIGN=CENTER HEIGHT= 57 WIDTH="88"><div> Plantar Creases </div> </tD> <tD VALIGN=CENTER WIDTH="116"><div> Heel-toe 40-50 mm = -1, <40 mm = -2 </div> </tD> <tD VALIGN=CENTER WIDTH="131"><div> Heel-toe >50 mm, no creases </div> </tD> <tD VALIGN=CENTER><NOBR><div> Faint red marks </div> </NOBR></tD> <tD VALIGN=CENTER WIDTH="140"><div> Anterior transverse crease only </div> </tD> <tD VALIGN=CENTER WIDTH="150"><div> Creases over anterior 2/3 </div> </tD> <tD VALIGN=CENTER><NOBR><div> Creases over entire sole </div> </NOBR></tD> <tD VALIGN=CENTER WIDTH="107"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="57" ALIGN="bottom" WIDTH="107" HSPACE="0" VSPACE="0"></tD> </tR> <tR> <tD VALIGN=CENTER HEIGHT= 38 WIDTH="88"><div> Breast </div> </tD> <tD VALIGN=CENTER><NOBR><div> Imperceptible </div> </NOBR></tD> <tD VALIGN=CENTER><NOBR><div> Barely perceptible </div> </NOBR></tD> <tD VALIGN=CENTER><NOBR><div> Flat areola, no bud </div> </NOBR></tD> <tD VALIGN=CENTER WIDTH="140"><div> Stippled areola, 1-2 mm bud </div> </tD> <tD VALIGN=CENTER WIDTH="150"><div> Raised areola, 3-4 mm bud </div> </tD> <tD VALIGN=CENTER><NOBR><div> Full areola, 5-10 mm bud </div> </NOBR></tD> <tD VALIGN=CENTER WIDTH="107"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="38" ALIGN="bottom" WIDTH="107" HSPACE="0" VSPACE="0"></tD> </tR> <tR> <tD VALIGN=CENTER HEIGHT= 57 ><NOBR><div> Eye & Ear </div> </NOBR></tD> <tD VALIGN=CENTER WIDTH="116"><div> Lids fused, loosely = -1, tightly = -2 </div> </tD> <tD VALIGN=CENTER WIDTH="131"><div> Lids open, pinna flat, stays folded </div> </tD> <tD VALIGN=CENTER WIDTH="148"><div> Slightly curved pinna, soft with slow recoil </div> </tD> <tD VALIGN=CENTER WIDTH="140"><div> Well-curved pinna, soft but ready recoil </div> </tD> <tD VALIGN=CENTER WIDTH="150"><div> Formed and firm, with instant recoil </div> </tD> <tD VALIGN=CENTER><NOBR><div> Thick cartilage, ear stiff </div> </NOBR></tD> <tD VALIGN=CENTER WIDTH="107"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="57" ALIGN="bottom" WIDTH="107" HSPACE="0" VSPACE="0"></tD> </tR> <tR> <tD VALIGN=CENTER HEIGHT= 38 WIDTH="88"><div> Genitals, male </div> </tD> <tD VALIGN=CENTER WIDTH="116"><div> Scrotum flat, smooth </div> </tD> <tD VALIGN=CENTER WIDTH="131"><div> Scrotum empty, faint rugae </div> </tD> <tD VALIGN=CENTER WIDTH="148"><div> Testes in upper cannal, rare rugae </div> </tD> <tD VALIGN=CENTER WIDTH="140"><div> Testes descending, few rugae </div> </tD> <tD VALIGN=CENTER WIDTH="150"><div> Testes down, good rugae </div> </tD> <tD VALIGN=CENTER WIDTH="176"><div> Testes pendulous, deep rugae </div> </tD> <tD VALIGN=CENTER WIDTH="107"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="38" ALIGN="bottom" WIDTH="107" HSPACE="0" VSPACE="0"></tD> </tR> <tR> <tD VALIGN=CENTER HEIGHT= 57 WIDTH="88"><div> Genitals, female </div> </tD> <tD VALIGN=CENTER WIDTH="116"><div> Clitoris prominent, labia flat </div> </tD> <tD VALIGN=CENTER WIDTH="131"><div> Prominent clitoris, small labia minora </div> </tD> <tD VALIGN=CENTER WIDTH="148"><div> Prominent clitoris, enlarging minora </div> </tD> <tD VALIGN=CENTER WIDTH="140"><div> Majora and minora equally prominent </div> </tD> <tD VALIGN=CENTER WIDTH="150"><div> Majora large, minora small </div> </tD> <tD VALIGN=CENTER WIDTH="176"><div> Majora cover clitoris and minora </div> </tD> <tD VALIGN=CENTER WIDTH="107"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="57" ALIGN="bottom" WIDTH="107" HSPACE="0" VSPACE="0"></tD> </tR> </TABLE></div> <bR> <div> Differential Dx of Clotting Disorders</div> <bR> <div> <TABLE BORDER="0" CELLPADDING="1" CELLSPACING="1" WIDTH="945" BORDERCOLORLIGHT="#C0C0C0" BORDERCOLORDARK="#808080" FRAME="VOID" RULES="NONE" ALIGN="BOTTOM" HSPACE="0" VSPACE="0" BGCOLOR=#00FFFF > <tR> <tD VALIGN=CENTER HEIGHT= 20 ><NOBR><div> <B>Long PTT + normal PT + normal platelets + normal bleeding </B></div> </NOBR></tD> <tD VALIGN=CENTER WIDTH="393"><div> <B>Factor VIII, IX, XI, XII </B></div> </tD> </tR> <tR> <tD VALIGN=CENTER HEIGHT= 20 ><NOBR><div> <B>Long PTT + normal PT + normal platelets + long bleeding time </B></div> </NOBR></tD> <tD VALIGN=CENTER WIDTH="393"><div> <B>Von Willebrand's Disease</B></div> </tD> </tR> <tR> <tD VALIGN=CENTER HEIGHT= 20 WIDTH="545"><div> <B>Long PTT + long PT + normal platelets</B></div> </tD> <tD VALIGN=CENTER WIDTH="393"><div> <B>Vitamin K deficiency </B></div> </tD> </tR> <tR> <tD VALIGN=CENTER HEIGHT= 20 WIDTH="545"><div> <B>Long PTT + long PT + decreased platelets</B></div> </tD> <tD VALIGN=CENTER WIDTH="393"><div> <B>DIC or generalized coagulopathy</B></div> </tD> </tR> <tR> <tD VALIGN=CENTER HEIGHT= 20 WIDTH="545"><div> <B>Normal PTT + long PT </B></div> </tD> <tD VALIGN=CENTER WIDTH="393"><div> <B>Factor VII </B></div> </tD> </tR> <tR> <tD VALIGN=CENTER HEIGHT= 39 WIDTH="545"><div> <B>Normal PTT + normal PT + normal platelets + normal bleeding time + bleeding especially umbilicus</B></div> </tD> <tD VALIGN=CENTER WIDTH="393"><div> <B>Factor XIII</B></div> </tD> </tR> <tR> <tD VALIGN=CENTER HEIGHT= 20 WIDTH="545"><div> <B>Normal PTT + normal PT + low platelets</B></div> </tD> <tD VALIGN=CENTER WIDTH="393"><div> <B>ITP, aplasia, leukemia, etc. </B></div> </tD> </tR> <tR> <tD VALIGN=CENTER HEIGHT= 20 WIDTH="545"><div> <B>Many petechia and normal platelets</B></div> </tD> <tD VALIGN=CENTER WIDTH="393"><div> <B>HSP, CMV, etc.</B></div> </tD> </tR> </TABLE></div> <bR> <bR> <div> Differential Diagnosis of Hyperbilirubinemia</div> <div> Indirect Hyperbilirubinemia</div> <div> <IMG SRC="0cad4140.gif" border=0 width="468" height="276" ALIGN="BOTTOM" HSPACE="0" VSPACE="0"></div> <bR> <div> Direct Hyperbilirubinemia</div> <div> <IMG SRC="0cce7180.gif" border=0 width="487" height="280" ALIGN="BOTTOM" HSPACE="0" VSPACE="0"></div> <bR> <div> Differential Dx of Anemia</div> <div> General Diagnostic Flowchart</div> <DIV ALIGN="LEFT"></DIV> <div> <IMG SRC="0cd27c40.gif" border=0 width="295" height="452" ALIGN="BOTTOM" HSPACE="0" VSPACE="0"></div> <bR> <bR> <div> <B><U>Differential Dx by Time of Occurence</U></B></div> <div> <B><U>Early Neonatal Period</U></B></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Fetal hemorrhage: vasa previa, placenta previa, abruption, amniocentesis, incision of placenta at C-section. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Fetomaternal transfusion (check Kleihauer-Bettke test). </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Twin-to-twin transfusion. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Early cord clamping (failure of normal placentofetal transfusion), and fetoplacental transfusion (baby held above mother). </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Acute or chronic fetal hemolysis: Rh incompatibility, alpha-thalassemia, intrauterine infection. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Neonatal hemorrhage: ruptured liver or spleen, fractures, intracranial, pulmonary, gastrointestinal, from umbilical cord, subaponeurotic, extensive hematoma or bruising. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Intrauterine bone marrow failure (e.g. Diamond-Blackfan). </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Iatrogenic. </div> <div> <B><U>Late Neonatal Period </U></B></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Iatrogenic. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Chronic hemolysis: Rh, ABO, red cell defects, enzyme defects, hemoglobinopathies, infection. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Sepsis. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Bleeding diastheses: Vitamin K deficiency, DIC, intraventricular hemorrhage. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Physiologic anemia of prematurity ("early anemia"), due to deficient erythropoiesis and diminished red cell survival. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Late anemia of prematurity, due to iron deficiency (usually after 8 weeks). </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Vitamin E deficiency hemolytic anemia. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Possible folate and Vitamin B-12 deficiencies. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Bone marrow failure. </div> <bR> <div> <B>Differential Dx by Red Cell Characteristics </B></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Microcytic Hypochromic </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Iron deficiency </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Thalesemia </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Lead toxicity </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Chronic disease </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Sideroblastic </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Heredity </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Acquired </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Toxin induced </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Proliferative disease </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Pyridoxine-responsive</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Transferrin deficiency</div> <bR> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Macrocytic </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">B-12, folate deficiency </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">GI, malabsorption: NEC, short gut, bowel disease </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Folate deficiency (e.g. goats milk) </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Pernicious anemia </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Tape worm (Diphyllobothrium latum) </div> <bR> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Normocytic Normochromic, Increased Retics </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Acute blood loss </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Congenital </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Red cell membrane: spherocytosis, eliptocytosis, stomatocytosis, poikilocytosis (infantile form usually resolves), acanthocytosis (can be associated with A, B lipoproteinemias) </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Hemoglobinopathy: C, S, E, D </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Enzymes: G6PD, pyruvate kinase (others very rare) </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Infection: toxin (Clostridia), DIC, viruses, malaria </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Immune: ABO, Rh, lupus, idiopathic, drugs, JRA </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Hypersplenism </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Mechanical: heart valves, patches, DIC </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">HUS, March Hgb syndrome </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Giant hemangioma </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Drugs </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Burns, blister cells</div> <bR> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Normocytic Normochromic, Decreased Retics </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Congenital: Fanconi's, Diamond-Blackfan </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Acquired aplastic: idiopathic, Gaucher's, osteopetrosis, leukemia, radiation, chemotherapy </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Pure red cell: hereditary enzyme abnormality (congenital hemolytic with hypoplastic crises) </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Transient erythroblastopenia </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Thymoma (usually in adults)</div> <bR> <bR> <bR> <div> <B><U>G6PD Deficiency </U></B></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme which allows the red cells to make NADPH. NADPH is used to break down free radicals (oxidants) in the cell. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">When NADPH is depleted, Hgb becomes oxidized and denatured. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The denatured Hgb is unable to bind O2 (O2 is bound by Hgb in the reduced form) and appears as <B>a Heinz body,</B> which is removed by the spleen. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The normal G6PD enzyme is referred to as Gd B. Other types are:</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Gd A+ : Normal variant (20% of all blacks) </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Gd A- : Hemolytic variant, decreased catalytic activity </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Gd Med: Markedly decreased catalytic activity</div> <bR> <bR> <div> <B>Gd B, Gd A+</B>: Half life is about 60 days, however normal cells retain enough activity during life span to maintain NADPH as GSH (glutathione - reduced) in the face of oxidant stress. </div> <bR> <bR> <div> <B>Gd A-</B>: Half-life is about 13 days. Young cells have normal activity while old cells are grossly deficient. With hemolysis due to stress/oxidants, the bone marrow is stimulated to make new cells by increasing reticulocytosis, these new cells have adequate G6PD and hemolysis abates without transfusion. Thus, after an acute hemolytic event, G6PD levels are normal in this variant. </div> <bR> <bR> <div> <B>Gd Med</B>: </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">These individuals have very unstable Hgb, with very low levels of enzyme activity in the mature cells.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> The minimal amount of oxidant stress in routine life is not adequate to induce spontaneous lysis; however, any additional oxidant stress (e.g. drugs, infection, and in some individuals, fava beans) can cause continued and non-relenting hemolysis, with destruction of the entire red cell population. Unlike Gd A-, these individuals cannot make RBCs with adequate activity and require multiple transfusions to stop the hemolytic crisis. </div> <bR> <div> <B><U>Pyruvate Kinase </U></B></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The absence of pyruvate kinase (PK) causes decreased ATP, which is used in red cell mitochondrial phosphorylation.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Absence results in decreased K+ and H2O and increased Ca++ in the cells, in turn leading to a change of shell shape and rigidity. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The result is the presence of "frilly" cells with inclusion bodies that have early slow degeneration. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">(The hypoxemic nature of the circulation within the spleen further increases rigidity and lysis and thus splenectomy is often indicated.) </div> <bR> <div> <B><U>Fanconi's Syndrome </U></B></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Onset of anemia: mean age 8 years.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Syndrome includes </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">microcephaly,</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> microphthalmia,</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> absent thumbs, </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">hyperpigmentation,</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> cafe au lait spots,</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> short status, </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">renal anomalies, </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">and heart anomalies.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Associated with leukemia.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Autosomal recessive. </div> <bR> <div> <B><U>Diamond-Blackfan Syndrome </U></B></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Onset of anemia: newborn to 1 month. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Associated with </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">thrombosis, </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">web neck, </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">cleft lip, </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">short stature,</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> increased fetal Hgb,</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> pure red cell aplasia, </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">leukemia. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Autosomal recessive. </div> <bR> <bR> <div> <B><U>Abdominal Masses in the Newborn</U></B></div> <bR> <div> <B><U><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"><IMG SRC="0cebc320.gif" border=0 width="444" height="306" ALIGN="BOTTOM" HSPACE="0" VSPACE="0"></U></B></div> <div> <B><U><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">==================================================================================================================</U></B></div> <div> <B><U>Dysmorphic IEM Presenting in the Neonatal Period</U></B></div> <bR> <div> Most patients with IEM do not have dysmorphic features, but there are several important exceptions: </div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Peroxisomal disorders - such as Zellweger's cerebrohepatorenal syndrome. Patients are dysmorphic with characteristic CNS abnormalities on MRI, cataracts, hepatomegaly, and multicystic dysplastic kidneys. </B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Fatty acid oxidation disorders, glutaric acidemia type II - patients may have dysmorphic features similar to Zellweger's, hypertrophic cardiomyopathy, and multicystic dysplastic kidneys. </B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Menke's disease - mild dysmorphic features, hypopigmentation, and kinky, brittle hair. This is an X-linked recessive disorder of copper metabolism</B>. </div> <div> Lysosomal storage disorders usually do not present in the neonatal period with 2 prominent exceptions: </div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">I-cell disease (mucolipidosis II) - coarse features, hepatosplenomegaly. A lysosomal storage disease due to a defect in targeting lysosomal enzymes to the lysosome. </B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Pompe's disease (type II glycogenosis) - hypertrophic cardiomyopathy, macroglossia. </B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">A lysosomal glycogen storage disorder due to a deficiency in acid maltase (a-glucosidase). </B></div> <bR> </td> </tr></table></body>