MICROCEPHALIA

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0catch 1258998143-0 visited=11%2F23%2F2009; visited=11%2F23%2F2009; visited=11%2F23%2F2009; visited=11%2F23%2F2009; visited=11%2F23%2F2009; visited=11%2F23%2F2009; visited=11%2F23%2F2009; visited=11%2F23%2F2009; visited=11%2F23%2F2009; visited=11%2F23%2F2009; visited=11%2F23%2F2009><table cellpadding=0 cellspacing=0 border=0><tr> <td valign="top" colspan=2 height=125 BGCOLOR="#996699" TEXT="#080000" bgproperties="fixed" background="040467d1erlcll.gif"> <div> <FONT SIZE="5" COLOR="#FFFFFF" FACE="Arial" ><B>paediatry part 2</B></FONT><B>     </B><B>|     </B><A HREF="index.htm" TARGET="_top" TITLE="paediatry part 2"><U><B>home</B></U></A></div> <div> <A HREF="id18.htm" TARGET="_top" TITLE="PEARLS 1"><U>PEARLS 1</U></A>   |   <A HREF="id27.htm" TARGET="_top" TITLE="pearls2"><U>pearls2</U></A>   |   <A HREF="id30.htm" TARGET="_top" TITLE="Phenylketonuria (PKU)"><U>Phenylketonuria (PKU)</U></A>   |   <A HREF="id31.htm" TARGET="_top" TITLE="food poisoning"><U>food poisoning</U></A>   |   <A 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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"> <bR> <bR> <div> <B> <img src="HTMLobj-280/aniGif.gif" border="0" align="bottom" width="115" height="98">  </B></div> <div> <A HREF="id18.htm" TARGET="_top" TITLE="PEARLS 1"><U><B>PEARLS 1</B></U></A></div> <div> <A HREF="id27.htm" TARGET="_top" TITLE="pearls2"><U><B>pearls2</B></U></A></div> <div> <A HREF="id30.htm" TARGET="_top" TITLE="Phenylketonuria (PKU)"><U><B>Phenylketonuria (PKU)</B></U></A></div> <div> <A 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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> <B>MICROCEPHALIA</B></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> MICROCEPHALIA</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Microcephaly is defined by a head circumference, as measured around the glabella and occipital protuberance, that is more than 2 standard deviations below the mean for age, sex, race, and gestation.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Microcephaly is always caused by microencephaly, a small brain, and the two terms are used interchangeably. In the normally shaped head the occipital frontal circumference is an index of cranial volume.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Where the head shape is abnormal, as in certain forms of craniosynostosis, the head circumference is not a valid index of cranial volume and does not correlate with microcephaly. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Microcephaly has generally been equated with mental retardation. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">However, not all children with head circumference less than 2 standard deviations are mentally retarded.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> A child with "measurement microcephaly" who is of small stature because of familial factors or growth retardation secondary to malabsorption or cardiac disease is, therefore, not in the same category from the standpoint of CNS function as one with microcephaly resulting from organic brain disease. </div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Twenty-five percent of hypopituitary dwarfs with normal IQ were microcephalic. Normal intelligence was also measured in 40% of those infants after exposure to the atomic bombs as fetuses.</B> </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">An abnormally small brain either is caused by anomalous development during the first 7 months of gestation (primary microcephaly), or is the result of an insult incurred during the last 2 months of gestation or during the perinatal period (secondary microcephaly).</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> It can also be classified as congenital or acquired. </div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Congenital microcephaly may follow intrauterine infections with rubella, CMV, Toxoplamosis</B>.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Congenital microcephaly is also a part of many chromosomal abnormalities and other syndromes. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Most common conditions associated with primary microcephaly include: </div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f0ff000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Gross chromosomal abnormalities </B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f0ff000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Trisomy 18 </B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f0ff000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Trisomy 13 </B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f0ff000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Wolf-Hirschhorn syndrome </B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f0ff000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Cri du Chat syndrome </B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f0ff000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Partial deletion of long arm of 13 </B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f0ff000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Contigous gene syndromes </B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f0ff000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Miller-Dieker syndrome </B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f0ff000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Langer-Giedion syndrome </B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f0ff000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Prader-Willi syndrome </B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f0ff000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Aniridia-Wilms tumour syndrome </B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f0ff000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Autosomal recessive disorder </B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f0ff000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Johanson-Blizzard syndrome </B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f0ff000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Seckel syndrome </B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f0ff000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Smith-Lemli-OPitz syndrome </B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f0ff000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Coffin-Siris syndrome (?) </B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f0ff000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Rubinstein-Taybi syndrome </B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f0ff000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Maternal PKU</B></div> <div> <B> </B></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Congenital (primary) microcephaly can also result from a variety of insults that cause anomalies of induction and migration. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The condition may be autosomal recessive or associated with chromosomal disorders. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The infants are abnormal at birth. They not only have a small head but also have characteristic facial and cranial configurations. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Their rounded heads, with small or absent anterior fontanel and recessed or sloped forehead indicative of the shallow anterior cranial fossa, readily identify them as infants with severe morphologic cerebral abnormalities. Some demonstrate immediate signs of neurologic dysfunction such as hypotonicity, hypertonicity, or an abnormal cry, whereas others function surprisingly normally for the first few months of life. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Acquired microcephaly may result from perinatal infections such as herpes simplex, from intrapartum or neonatal hypoxic-ischemic insults, and from metabolic causes, including aminoacidurias and hypothyroidism. In these patients, head circumference is normal at birth, but the rate of brain growth is impaired, with resultant microcephaly. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Anencephaly is a variable malformation of brain development in which the cerebral hemispheres are virtually absent and brain stem structures are variably affected. There is a variable inherited component to this disorder. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Antenatal diagnosis is aided by finding of elevated alpha-fetoprotein levels in amniocentesis. Furthurmore, the accompanying absence of bony structures of the skull leads to a characteristic froglike appearance on antenatal ultrasound.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> There is no possibility for long-term survival in these patients. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Lissencephaly is near-total or total absence of cerebral convolutions (agyria), reminiscent of fetal brain during the second to fourth months' gestation. This is a feature of many syndromes including Mueller-Dieker syndrome. The clinical picture includes microcephaly, hypotonia, and seizures, most commonly infantile spasms. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Pachygyria is characterized by relatively few broad gyri and shallow sulci.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> It appears to represent a developmental arrest of maturation and cell migration at a slightly later stage, with the result being abnormally broad, flat cerebral convolutions with a thick cerebral cortex. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The ventricular system is slightly enlarged, and other anomalies, such as areas of gray matter heterotopia, are usually present in these types of malformed brains. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Polymicrogyria is more often associated with hydrocephalus than microcephaly and is characterized by either localized or generalized excessive and small cerebral convolutions. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The clinical picture is one of mental retardation and spaticity, or hypotonia with active deep tendon reflexes ("atonic cerebral palsy"). </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Each infant with microcephaly deserves a complete evaluation and determinations of the cause if at all possible. This should include serologic studies for TORCH agent infections, CT scan, and amino acid screening.</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> The presence of other somatic abnormalities may lead to chromosomal evaluation. There is no treatment for microcephaly</div> <bR> </td> </tr></table></body>