[Centronuclear myopathy. Complete review of the literature apropos of a case]

Abstract

A 19 years old woman suffered from claw feet and mild disorders of gait since infancy. Physical examination disclosed parseris of pelvis girdle, diffuse areflexia, mild dorsolumbar scoliosis, claw feet and a high arched palate. The facial muscles and cranial nerves were not involved. Serum enzymes were normal, EMG was consistent with a myopathy. Family examination and laboratory data were normal. On muscle biopsy, there were many muscle fibers with central nuclei and clear perinuclear areas, and a varying increase of adipose tissue. Histochemical studies showed type I fiber predominance and atrophy ; the central part of fibers was not stained by ATPase reactions but was strongly reactive with phosphorylase and oxidative stains. By electromicroscopy, central nuclei were separated by strands of glycogen ; there were no myofibrillar abnormalities. From a literature review, there is a large heterogeneity in genetic, clinical and pathological findings. Any attempt to class the different kinds of this disease is difficult, other than by the age of onset : --Early onset cases are characterized by neonatal hypotonia, severe disability and sometimes early death by pulmonary involvement. --Infantile and late onset cases have slower evolution. The nature of the disease remains unknown.