title: Pathological findings in one of two siblings with Sjögren-Larsson Syndrome.
abstract: The clinical features of 2 new cases of Sjögren-Larsson syndrome are described. Histopathological examination of the skin in 1 of the cases revealed an ichthyosis vulgaris, which does not agree with the clinical and genetic classification. In the same case, a neuroblastoma was the cause of death, and neuropathological examination showed a symmetrical demyelination of some ascending and descending long tracts in the medulla and spinal cord.
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology; D002648:Child; D003711:Demyelinating Diseases / Q000473:pathology; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000235:genetics / Q000473:pathology*; D007680:Kidney Neoplasms / Q000473:pathology; D008297:Male; D009128:Muscle Spasticity / Q000235:genetics / Q000473:pathology; D009447:Neuroblastoma / Q000473:pathology; D010243:Paralysis / Q000235:genetics / Q000473:pathology*; D012867:Skin / Q000473:pathology; D013116:Spinal Cord / Q000473:pathology; D013577:Syndrome