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Neuropediatrics 2001; 32(2): 93-96
DOI: 10.1055/s-2001-13873
Short Communication

Georg Thieme Verlag Stuttgart · New York

Scheie Syndrome Presenting as Myopathy

A. Verrips1,2 , B. G. M. van Engelen2 , H. ter Laak3 , P. Wesseling3,4 , J. de Jong5 , F. J. M. Gabreëls1,2
  • 1 Department of Pediatric Neurology, University Medical Center St. Radboud, Nijmegen, The Netherlands
  • 2 Neuromuscular Center Nijmegen, University Medical Center St. Radboud, Nijmegen, The Netherlands
  • 3 Department of Neurology, University Medical Center St. Radboud, Nijmegen, The Netherlands
  • 4 Department of Pathology, University Medical Center, St. Radboud, Nijmegen, The Netherlands
  • 5 Laboratory of Neurology and Pediatrics, University Medical Center, S. Radboud, Nijmegen, The Netherlands
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Publication History

Publication Date:
31 December 2001 (online)

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We investigated two brothers with Scheie syndrome whose only complaint was exercise intolerance. In the quadriceps muscle biopsy of both patients, between the normal muscle fibres an increased number of markedly swollen periodic acid-Schiff-positive fibroblasts were seen. Ultrastructurally, these cells showed an accumulation of enlarged lysosomes, partly filled with electro-dense material. We hypothesize that the accumulation of pathological fibroblasts may interfere with intramuscular force transmission resulting in exercise intolerance.

Key words

Scheie syndrome - Exercise intolerance - Muscle extracellular matrix

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M. D., Ph. D. A. Verrips

Department of Pediatric Neurology/Neuromuscular Center Nijmegen University Hospital Nijmegen

P. O. Box 9101

6500 HB Nijmegen

The Netherlands

Email: A.Verrips@ckskg.azn.nl