glycogen and Abetalipoproteinemia

Two cases of ophthalmoplegia-plus are described for the first time in the national literature. The clinical picture of both patients aged 7 and 15 years exhibited a characteristic triad: external ophthalmoplegia, retinitis pigmentosa and heart conduction impairments. In one patient, this triad was supplemented by neurosensory deafness, torsion dystonia and the myopathic syndrome, and in the other one, by ichthyosis, cerebellar symptomatology, the myopathic syndrome and a marked elevation of protein in the cerebrospinal fluid. In both patients, the diagnosis was supported by electron microscopic studies of a muscular biopsy-specimen which disclosed pronounced changes in the number, structure, size and form of mitochondria as well as the presence of glycogen and lipid drops accumulating near mitochondria.

Topics: Abetalipoproteinemia; Adolescent; Arrhythmias, Cardiac; Child; Female; Glycogen; Humans; Lipid Metabolism; Mitochondria, Muscle; Muscles; Ophthalmoplegia; Retinitis Pigmentosa; Syndrome