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Related Experiment Videos

Scheie syndrome presenting as myopathy.

A Verrips1, B G van Engelen, H ter Laak

  • 1Department of Pediatric Neurology, University Medical Center St. Radboud, Nijmegen, The Netherlands. A.Verrips@ckskg.azn.nl

Neuropediatrics
|June 21, 2001
PubMed
Summary

Scheie syndrome patients experienced exercise intolerance due to abnormal fibroblasts in their muscles. These fibroblasts contained enlarged lysosomes, potentially impairing muscle function and causing symptoms.

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Area of Science:

  • Biochemistry
  • Cell Biology
  • Genetics

Background:

  • Scheie syndrome is a rare lysosomal storage disorder.
  • Exercise intolerance is a common but poorly understood symptom in some genetic disorders.

Observation:

  • Two brothers with Scheie syndrome presented solely with exercise intolerance.
  • Muscle biopsies revealed increased, swollen, periodic acid-Schiff-positive fibroblasts amidst normal muscle fibers.

Findings:

  • Ultrastructural analysis showed these fibroblasts had enlarged lysosomes filled with electro-dense material.
  • The pathological fibroblasts accumulate within the muscle tissue.

Implications:

  • Accumulation of these abnormal fibroblasts may impede intramuscular force transmission.

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  • This cellular pathology offers a potential explanation for exercise intolerance in Scheie syndrome.
  • Further research into fibroblast dysfunction in lysosomal storage disorders is warranted.