Ataxia and peripheral neuropathy: a benign variant of peroxisome dysgenesis.
case_report · Level V
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Abstract
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.
Medical subject headings
- Ataxia
- Microbodies
- Peripheral Nervous System Diseases