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

© Georg Thieme Verlag KG Stuttgart · New York

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.).
Further Information

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.

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