Ataxia and peripheral neuropathy: a benign variant of peroxisome dysgenesis.
A 5-year-old boy with panperoxisomal dysfunction is described. Clinical features included hypotonia, areflexia, and ataxia. Cognition, vision, hearing, and hepatic function were normal. A panel of peroxisomal markers, including very-long-chain fatty acids, phytanic acid, pipecolic acid, and catalase compartmentalization, were abnormal. This is a uniquely benign syndrome of disordered peroxisome biogenesis.
MacCollin
M
M
Division of Child Neurology, Columbia Presbyterian Medical Center, New York, NY 10032.
De Vivo
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DC
Moser
A B
AB
Beard
M
M
D001259:Ataxia / Q000378:metabolism*; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D005347:Fibroblasts; D006801:Humans; D008099:Liver / Q000201:enzymology / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D008297:Male; D008830:Microbodies / Q000201:enzymology / Q000378:metabolism*; D010523:Peripheral Nervous System Diseases / Q000378:metabolism*; D010831:Phytanic Acid / Q000097:blood
D010831:Phytanic Acid