title: Dermatoleukodystrophy with neuroaxonal spheroids.
abstract: A Japanese brother and sister, the progeny of healthy parents, were born with thickened, wrinkled skin and died between the age of 2 and 3 years with a progressive cerebral disease characterized by generalized mental and motor impairment. Postmortem neuropathological studies disclosed a remarkable leukodystrophy in which multiple axonal spheroids were the outstanding feature. Ultrastructurally, the spheroids contained granules resembling ceroid-lipofuscin bodies. Similar granules were found in degenerating oligodendrocytes and in Schwann cells. The skin showed hypercellular and sclerotic features, suggestive of a genodermatosis. This combined neurologic and dermatologic syndrome, which, to our knowledge, has not hitherto been recognized, may well result from a genetically determined metabolic disorder, the nature of which still remains undisclosed.
mesh_terms: D001369:Axons / Q000648:ultrastructure*; D001921:Brain / Q000473:pathology; D001927:Brain Diseases / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009186:Myelin Sheath / Q000648:ultrastructure; D009474:Neurons / Q000648:ultrastructure; D012867:Skin / Q000473:pathology; D012868:Skin Abnormalities