Ultrastructure and electrodiagnosis of peripheral neuropathy in Cockayne's syndrome.
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.
D002675:Child, Preschool; D003057:Cockayne Syndrome / Q000150:complications / Q000175:diagnosis / Q000473:pathology*; D004392:Dwarfism / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D010523:Peripheral Nervous System Diseases / Q000150:complications / Q000175:diagnosis / Q000473:pathology*