Subscribe to RSS
DOI: 10.1055/s-2008-1059657
© Georg Thieme Verlag KG Stuttgart · New York
NEUROMYOPATHY AND VITAMIN E DEFICIENCY in MAN1
1 The morphological studies were financially supported by the ,,Stiftung Volkswagenwerk” and the ,,Deutsche Forschungsgemeinschaft” (Go 185/3) (H. H. G.).Publication History
Publication Date:
22 April 2008 (online)

Abstract
A 12-year-old boy, born of a consanguineous marriage, had ataxia, sensory neuropathy, generalized muscle hypotrophy and a low 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 abetalipoproteinemia. They probably represent the morphological sequelae of long-standing vitamin E deficiency in this child, the exact origin of which has not been fully elucidated.
Key words
Neuromyopathy - vitamin E deficiency - lipopigments - ultrastructure - autofluorescence