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Ataxia and peripheral neuropathy: A benign variant of peroxisome dysgenesis
Author(s) -
Maccollin Mia,
De Vivo Darryl C.,
Moser Ann B.,
Beard Margaret
Publication year - 1990
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410280617
Subject(s) - peripheral neuropathy , ataxia , medicine , peripheral , dysgenesis , neuroscience , bioinformatics , endocrinology , biology , anatomy , diabetes mellitus , psychiatry
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.