CAMFAK syndrome: a demyelinating inherited disease similar to Cockayne syndrome.
CAMFAK syndrome is an inherited disease characterized by congenital cataracts, microcephaly, failure to thrive, and kyphoscoliosis with onset in early infancy. Its pathogenesis has not been clearly defined. We report on a patient with this syndrome and present evidence that it is a neurologic disease characterized by peripheral and central demyelination similar to that seen in Cockayne syndrome.
Talwar
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D
Division of Pediatric Neurology, University of Minnesota Medical School, Minneapolis.
Smith
S A
SA
D000015:Abnormalities, Multiple; D003057:Cockayne Syndrome / Q000209:etiology / Q000473:pathology*; D003711:Demyelinating Diseases / Q000150:complications / Q000151:congenital / Q000473:pathology*; D004392:Dwarfism / Q000473:pathology*; D006801:Humans; D007223:Infant; D008297:Male; D010523:Peripheral Nervous System Diseases / Q000150:complications / Q000151:congenital / Q000473:pathology*