Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism

Chudley et al. (1985) described a family in which an adult brother and sister had congenital, nonprogressive myopathy due to multicore disease, severe mental retardation, short stature, and small pituitary fossa with sexual infantilism due to hypogonadotropic hypogonadism. Both had generalized mild weakness, bilateral ptosis and facial weakness, and exaggerated lumbar lordosis. Muscle biopsies showed variation in fibrodiameter, internal nuclei, atrophy of type I fibers, focal loss of cross-striations, and cores of myofibrillar disruption with associated absence of mitochondria. The parents were first cousins. Arginine, L-DOPA, and propranolol stimulation resulted in normal growth hormone responses.