1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-6-86-a 10.15844/pedneurbriefs-6-11-9 Metabolic Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Leigh Encephalopathy http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 11 1992 01 07 2016 6 11 86 86 Copyright: © 1992 The Author(s) 1992 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Leigh encephalopathy: histologic and biochemical analyses of muscle biopsies

Histologic and biochemical analyses of muscle biopsies from 33 patients with Leigh encephalopathy were performed at the National Institute of Neuroscience, Tokyo and Tokushima University School of Medicine, Japan.

 Leigh Encephalopathy Cytochrome C Oxidase Leigh Syndrome

Histologic and biochemical analyses of muscle biopsies from 33 patients with Leigh encephalopathy were performed at the National Institute of Neuroscience, Tokyo and Tokushima University School of Medicine, Japan. Cytochrome c oxidase activity was decreased or absent in 7 patients (21%), 10 patients (30%) had biochemical defects including 2 with pyruvate dehydrogenase complex, 4 with cytochrome c oxidase, 1 with NADH-cytochrome c reductase and 3 with multiple complex deficiencies. None had DNA deletions in the muscle mitochondria. [1]

COMMENT. A mitochondrial DNA mutation in the ATPase 6 gene was reported in 7 of 40 patients with neuropathologically or MRI defined Leigh syndrome but no known biochemical defect [2]. A high abundance of the “NARP” mutation (neuropathy, ataxia, and retinitis pigmentosa) can cause Leigh syndrome and should be looked for in patients without biochemical defects. In another report, a 7 year old girl presented with a partial pyruvate carboxylase deficiency and basal ganglia lesions compatible with Leigh’s disease [3]. The biochemical defects in Leigh encephalopathy are probably heterogeneous.

 Nagai T Goto Y Matsuoka T Sakuta R Naito E Kuroda Y Leigh encephalopathy: histologic and biochemical analyses of muscle biopsies Pediatr Neurol 1992 Sep-Oct 8 5 328 332 10.1016/0887-8994(92)90084-C 1329789 Santorelli FM Ann Neurol 1992 Sept 32 467 Schrank WI Ann Neurol 1992 Sept 32 468