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Progressive poliodystrophy (alpers') disease) with a defect in cytochrome in muscle: a report of two unrelated patients

1983; Elsevier BV; Volume: 85; Issue: 1 Linguagem: Inglês

10.1016/0303-8467(83)90024-0

1872-6968

M.J.J. Prick, F.J.M. Gabreëls, J. M. F. Trijbels, A.J.M. Janssen, R. le Coultre, K. Van Dam, H. H. J. Jaspar, E. J. Ebels, A.A.W. Op de Coul,

Biochemical Acid Research Studies

We present two unrelated patients, a boy and a girl, with a progressive neurologic disorder, characterized by psychomotor retardation, seizures and paresis, the illness being exacerbated during stressful periods. Lactate levels in serum and cerebrospinal fluid were elevated in both patients. Histopathologic studies of muscle tissue revealed mitochondrial abnormalities in the boy; in the girl, slight neuronal degeneration was observed. A cerebral biopsy in the girl showed abnormalities compatible with progressive poliodystrophy. Autopsy in the boy demonstrated progressive poliodystrophy. Biochemical studies in muscle tissue showed a defect of cytochrome aa3 in both patients, connected with a defect of cytochrome b in the girl. The association of defective pyruvate metabolism and progressive poliodystrophy is discussed.