A HISTOCHEMICAL AND ELECTRON-MICROSCOPIC STUDY OF SKELETAL AND CARDIAC-MUSCLE FROM A FABRY DISEASE PATIENT AND CARRIER

Histochemical and electron microscopic studies were performed in an at tempt to clarify the muscle pathology in an 18-year-old man with Fabry disease, showing proximal limb muscle atrophy, and his 52-year-old mo ther, who is a Fabry carrier with hypertrophic cardiomyopathy. Despite the relatively mild myopathic changes revealed by histochemistry, ele ctron microscopy demonstrated the widespread accumulation of abundant lamellated bodies in myofibers, associated with increased glycogen gra nules and autophagic vacuoles. The cardiac muscle of the proband's mot her revealed a mosaic pattern of normal-appearing and hypertrophic myo fibers containing a number of ring-like, lamellated bodies. Although f urther studies are necessary to support our findings, skeletal muscle is apparently involved in patients with Fabry disease, and a mosaic pa ttern of cardiac muscle involvement possibly reflecting Lyonization, m ay be one of the characteristic findings of a Fabry disease carrier.