A HISTOCHEMICAL AND ELECTRON-MICROSCOPIC STUDY OF SKELETAL-MUSCLE IN AN ADULT CASE OF CHEDIAK-HIGASHI-SYNDROME

To clarify the muscle pathology findings of a 39-year-old female Chedi ak-Higashi syndrome (CHS) case with diffuse limb muscle atrophy, histo chemical and electron microscopic studies were performed. In addition to neurogenic muscle atrophy due to the peripheral neuropathy, the mos t striking change seen by light microscopy was the widespread appearan ce of acid phosphatase-positive granules in many normal-looking muscle fibers. Coincident with the histocemical findings, electron microscop y showed many autophagic vacuoles containing glycogen particles and me mbranous structures in almost all muscle fibers. Although further stud ies are necessary, diffuse distribution of acid phosphatase-positive g ranules (autophagic vacuoles) in the skeletal muscle may reflect one o f the generalized lysosomal abnormalities in CHS.