Disordered pigmentation, spastic paraparesis and peripheral neuropathy in three siblings: a new neurocutaneous syndrome.
Three siblings in a Jordanian family presented with a distinctive syndrome consisting of disordered skin and hair pigmentation, progressive spastic paraparesis and peripheral neuropathy. Sural nerve biopsy revealed axonal degeneration and skin biopsy showed abnormal epidermal pigmentation. Skin fibroblast repair studies were normal. No underlying biochemical defect has been found in this previously undescribed neurocutaneous syndrome.
D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D006801:Humans; D007597:Jordan; D008297:Male; D009128:Muscle Spasticity / Q000235:genetics; D009431:Neural Conduction; D009468:Neuromuscular Diseases / Q000235:genetics; D010264:Paraplegia / Q000235:genetics*; D010375:Pedigree; D010859:Pigmentation Disorders / Q000235:genetics*; D012880:Skin Pigmentation; D013577:Syndrome