RESUMO
The patient was a 50-year-old house wife. There were complicated consanguineous marriages in the family tree. Since 30 years of age, she had suffered from progressive limb muscle weakness, but without myalgia and myasthenia. At present, she was wheelchair-bound. Physical examinations showed obesity, congenital livedo racemosa, epicanthus palpebrae and left renal defect. Neurologically, facial, anterior cervical, and iliopsoas muscles were well preserved, but others were severely involved. Laboratory examinations revealed mildly elevated myogenic serum enzymes, and myogenic changes on needle EMG. In her muscle biopsy from the left rectus femoris muscle, there were no inflammatory changes, but marked variations of the fiber size as well as adipose tissue replacement were recognized. Strickingly, basophilic masses located in the center of the sarcoplasm were present in about 10% of the fibers. Histochemically, the masses were present in both type 1 and 2 fibers, and exhibited almost similar stained patterns to the tubular aggregates, but were dystrophin-, GRP78- and clathrin-positive. Under electron microscopy, the masses consisted of aggregates of the vesiculotubular structure, measuring approximately from 60 nm to more than 6 microns in diameter, which were continuous with T system/sarcoplasmic reticulum and were clearly segregated from myofilaments. This is a chronic progressive muscular disorder of adult onset with the peculiar pathological finding of vesiculotubular structure.