Scheie syndrome presenting as myopathy.
SourceNeuropediatrics, 32, 2, (2001), pp. 93-96
Article / Letter to editor
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SubjectDisturbances of cerebral development in the young child.; Inflammatory reactions in the kidneys; Pediatric Oncology. Treatment of children with cancer.; Neuromuscular and neurometabolic disorders; Cerebrale ontwikkelingsstoornissen bij het jonge kind; Immunologische ontstekingsprocessen in de nier; Kinderoncologie. Behandeling van kinderen met kanker.; Neuromusculaire en neurometabole aandoeningen
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.
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