Neuromyopathy and vitamin E deficiency in man.
A 12-year-old boy, born of a consanguineous marriage, had ataxia, sensory neuropathy, generalized muscle hypotrophy and a lower serum vitamin E level. Two of his relatives had died of a clinically similar disorder in their late adolescence. Morphologically, his striated muscle fibers and Schwann cells of his sural nerve contained numerous autofluorescent acid phosphatase-positive lipopigments which, by electron microscopy, consisted of a finely granular matrix surrounded by a trilaminar membrane. These lysosomal lipopigments were similar to those observed in muscle fibers of a patient afflicted with abeta-lipoproteinemia. They probably represent the morphological sequelae of long-standing vitamin E deficiency in this child, the extract origin of which has not been fully elucidated.
D002648:Child; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000150:complications* / Q000473:pathology; D006801:Humans; D007866:Leg / Q000294:innervation; D008297:Male; D009132:Muscles / Q000473:pathology / Q000648:ultrastructure; D013497:Sural Nerve / Q000473:pathology / Q000648:ultrastructure; D013848:Thigh / Q000294:innervation; D014811:Vitamin E Deficiency / Q000150:complications* / Q000473:pathology