Scheie syndrome presenting as myopathy

We investigated two brothers with Scheie syndrome whose only complaint was exercise intolerance. In the quadriceps muscle biopsy of both patients, bet ween the normal muscle fibres an increased number of markedly swollen perio dic acid-Schiff-positive fibroblasts were seen. Ultrastructurally, these ce lls showed an accumulation of enlarged lysosomes, partly filled with electr o-dense material. We hypothesize that the accumulation of pathological fibr oblasts may interfere with intramuscular force transmission resulting in ex ercise intolerance.