Abstract
To report a case of the uniform type l fiber myopathy with brain atrophy and gluteal muscles contracture. A 11-year-old girl had manifested gluteal muscles contracture since early childhood (4 year old). There was no history of intramuscular injection and neuromuscular disease. Needle EMG of vastus lateralis and gastrocnemius showed low amplitude and short duration motor unit potentials. (MUPs). Electrocardiography and echocardiography revealed no Cardiac function abnormalities. Her intelligence was borderline (IQ 80), Brain MRI showed that bilateral ventricular and width of lateral fissure were increased. Serum create kinase(CK) and lactate dehydrogenase (LDH) levels were normal. Muscle biopsy of the left quadriceps femoalis showed mainly myopathic changes such as increased numbers of nuclei, decreased intermyofibrillar of oxidase activities (SDH and COX) and greater than 99% type l fibers. There was no nemaline bodies, core, ragged red fibers and selective type 1 fiber atrophy. This is the first case report of brain atrophy complicated with gluteal muscle contracture in the uniform type l fiber myopathy in China.
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