NEUROMYOPATHY AND VITAMIN E DEFICIENCY in MAN1

U. Burck; H. H. Goebel; H. D. Kuhlendahl; C. Meier; K. M. Goebel

doi:10.1055/s-2008-1059657

Neuropediatrics, Table of Contents

Neuropediatrics 1981; 12(3): 267-278
DOI: 10.1055/s-2008-1059657

Case reports

NEUROMYOPATHY AND VITAMIN E DEFICIENCY in MAN¹

U. Burck¹ , H. H. Goebel² , H. D. Kuhlendahl³ , C. Meier⁴ , K. M. Goebel⁵

¹Dept. of Human Genetics, University of Hamburg, Martinistr. 52, D-2000 Hamburg 20, Fed. Rep. Germany
²Division of Neuropathology, University of Göttingen, Fed. Rep. Germany
³Dept. of Pediatrics, University of Kiel, Fed. Rep. Germany
⁴Dept. of Neurology, University of Berne, Switzerland
⁵Dept. of Internal Medicine, University of Marburg, Fed. Rep. Germany

1 The morphological studies were financially supported by the ,,Stiftung Volkswagenwerk” and the ,,Deutsche Forschungsgemeinschaft” (Go 185/3) (H. H. G.).

Abstract

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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

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