Abstract
Cockayne’s syndrome is a multisystem disease that begins in infancy and is inherited as an autosomal recessive. We studied a 4-year-old girl with nystagmus, ataxia, motor weakness, peripheral neuropathy, deficient growth, and developmental delay. Nerve biopsy revealed segmental demyelination and granular lysosomal inclusions on ultrastructural examination.
Original language | English (US) |
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Pages (from-to) | 1606-1609 |
Number of pages | 4 |
Journal | Neurology |
Volume | 33 |
Issue number | 12 |
State | Published - 1983 |
Externally published | Yes |
ASJC Scopus subject areas
- Arts and Humanities (miscellaneous)
- Clinical Neurology
- General Neuroscience