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-3-69-b 10.15844/pedneurbriefs-3-9-9 Metabolic Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Infantile Mitochondrial Disease 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 09 1989 01 08 2016 3 9 69 70 Copyright: © 1989 The Author(s) 1989 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. Evidence in a lethal infantile mitochondrial disease for a nuclear mutation affecting respiratory complexes I and IV

A detailed clinical, pathologic, biochemical, and genetic analysis of a case of lethal infantile mitochondrial disease is reported from the Departments of Biochemistry, Pediatrics, Neurology and Nephrology, Emory University School of Medicine, Atlanta, GA.

 Mitochondrial Disease Hypertrophic Cardiomyopathy Biochemical Analysis

A detailed clinical, pathologic, biochemical, and genetic analysis of a case of lethal infantile mitochondrial disease is reported from the Departments of Biochemistry, Pediatrics, Neurology and Nephrology, Emory University School of Medicine, Atlanta, GA. During the first three months of life the child showed increasing lethargy, hypotonia, difficulty in feeding and growth retardation. On admission at three months of age there was respiratory failure, bradycardia, hypotension, and severe lactic acidosis. Over the next 21 days the condition rapidly deteriorated with a progressive hypertrophic cardiomyopathy, hepatic dysfunction, and generalized seizure activity. The patient died with bradycardia and hypotension at four months of age. There were abnormalities in the striated muscles, smooth muscle, heart and liver but not in the central nervous system. Biochemical analysis revealed a combined complex I and IV deficiency in skeletal muscle, heart and liver but not in kidney and brain. There was no abnormality in mitochondrial DNA. The disease was thought to result from a nuclear oxidative phosphorylation gene mutation. [1]

COMMENT. Mitochondrial encephalomyopathies attributed to mutations in the mitochondrial DNA include MERRF and Kearns-Sayre syndrome with onset in childhood through adulthood. In the neonatal period some mitochondrial myopathies have a benign course and some are lethal and a variety of oxidative phosphorylation deficiencies have been associated with these disorders.

 Zheng X Shoffner JM Lott MT Voljavec AS Krawiecki NS Winn K Evidence in a lethal infantile mitochondrial disease for a nuclear mutation affecting respiratory complexes I and IV Neurology 1989 Sep 39 9 1203 1209 10.1212/WNL.39.9.1203 2549452