DESPITE the frequent occurrence of morphological changes in mitochondria in many types of human neuromuscular disorders,1-14 several myopathies have been delineated in which abnormalities of this organelle were considered to be of major significance.15-25 In this report we describe clinical, morphological, and biochemical studies in an adolescent with a congenital myopathy in which mitochondrial and lipid abnormalities justify its inclusion in this latter group of disorders. This case, however, has distinctive features which serve to differentiate it from those already reported.
Report of a Case
A 13-year-old boy (Fig 1) was referred to the Neuromuscular Clinic of the Bronx Municipal Hospital Center for reevaluation of muscle weakness which had been present since birth.This boy was the product of his mother's second pregnancy, which was complicated by vaginal bleeding during the first trimester. During the remainder of her pregnancy, she was confined to bed and diethylstilbestrol was