Refsum's Disease

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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> <B>Refsum's Disease</B></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> Refsum's Disease</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Childhood onset (< 20 yrs): Classic form</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f0ff00ff00.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">l<FONT SIZE="3" COLOR="#000000" FACE="Arial" > Phytanic Acid Oxidase ; Chromosome 10pter-p11.2; Recessive </FONT></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Onset </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Night blindness </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">5 to 20 years of age </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Demyelinating Neuropathy </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Distribution of signs: Symmetric; Distal progressing to Proximal </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Weakness: Distal; Legs > Arms </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Sensory loss: Vibration & Proprioception > Pain & Temperature </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Tendon reflexes: <FONT SIZE="3" COLOR="#000000" FACE="wingdings" >ê</FONT> or Absent </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Nerve size: Enlarged in some patients </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Course </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">May present subacutely over weeks </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Progressive or Relapsing </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Nerve conduction: Very slow motor & sensory velocity (Some < 10 M/s) </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">CSF Protein: Very High </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Nerve pathology </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Hypertrophy: Proximal > Distal </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Onion bulbs: Large </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">ê<FONT SIZE="3" COLOR="#000000" FACE="Arial" > Myelinated axons </FONT></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Ultrastructure: Inclusions in Schwann cell cytoplasm </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Cranial nerves </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Anosmia </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.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">CNS </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Clinical: Ataxia </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Pathology: <FONT SIZE="3" COLOR="#000000" FACE="wingdings" >ê</FONT> Purkinje cells & Neurons in Inferior olive, Dentate, Vestibular, Cochlear & Red nuclei </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="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Granular </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Concentric constriction of visual fields </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">ê<FONT SIZE="3" COLOR="#000000" FACE="Arial" > ERG </FONT></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Systemic </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Cardiac Failure: May cause sudden death; Onset after childhood </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Ichthyosis </div> <div> <U><IMG BORDER="0" SRC="Wing0a73006f00f0ff000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Diabetes</U><FONT SIZE="3" COLOR="#000000" FACE="Arial" > </FONT></div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Skeletal: Short 4th metatarsal; Epiphyseal dysplasia; Syndactyly </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Biochemistry </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Elevated serum phytanic acid </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Reduced oxidation of phytanic acid in fibroblasts </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Peroxisomal dysfunction </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Treatment: Low phytanic acid diet </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Infantile onset </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f0ff00ff00.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">l<FONT SIZE="3" COLOR="#000000" FACE="Arial" > Peroxin-1 ; Chromosome 7q21-q22; Autosomal recessive </FONT></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Protein </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Required for peroxisomal matrix protein import </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Genetics </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Homozygous mutation (gly843asp) found in </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Infantile Refsum's & 1 patient with neonatal <FONT SIZE="3" COLOR="#0000FF" FACE="Arial" ><U>adrenoleukodystrophy</U></FONT> (NALD) </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Heterozygosity for this mutation (? other mutation) found in </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Zellweger's; Neonatal Adrenal Leukodystrophy; Infantile Refsum's </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Clinical </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Mental retardation </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Neuropathy: <FONT SIZE="3" COLOR="#0000FF" FACE="Arial" ><U>Demyelinating</U></FONT> </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Deafness </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Retinitis pigmentosa </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">GI: Hepatomegaly; Steatorrhea </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Skeletal: Facial dysmorphism; Growth failure; Osteopenia </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Biochemistry </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Hypocholesterolemia </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Accumulation of phytanic acid, pipecolic acid, very long chain fatty acids </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Pathology </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">CNS: Leukodystrophy </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Peroxisomes: <FONT SIZE="3" COLOR="#000000" FACE="wingdings" >ê</FONT> or Absent </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Adult onset with increased pipecolicacidemia ; </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f0ff00ff00.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">l<FONT SIZE="3" COLOR="#000000" FACE="Arial" > ? Peroxisomal disorder; Chromosome 10p; Recessive </FONT></div> <bR> <div> <B><U>Carbohydrate-deficient glycoprotein syndrome</U></B><FONT SIZE="3" COLOR="#000000" FACE="Arial" > </FONT></div> <bR> </td> </tr></table></body>