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Association With Disturbed Pyruvate Oxidation in Muscle and Liver

Mathé J. J. Prick, MD; Fons J. M. Gabreëls, MD; Willy O. Renier, MD; J. M. Frans Trijbels, PhD; Rob C. A. Sengers, MD; Joop L. Slooff, MD

Arch Neurol. 1981;38(12):767-772.

Abstract
• Progressive infantile poliodystrophy (Alpers' disease) is associated with abnormalities in pyruvate metabolism or in cell mitochondria. A 3-year-old boy had a severe and rapidly progressive neurologic disorder characterized by psychomotor retardation, tetraparesis, ataxia, and myoclonic jerks, the illness being exacerbated during periods of infection. Lactate concentration in CSF was elevated. Histopathologic studies revealed lipid storage in liver and muscle. Autopsy showed a progressive infantile poliodystrophy. Mitochondrial abnormalities were found in heart muscle. Biochemical studies of muscle and liver tissue suggested a disturbance in nicotinamide adenine dinucleotide (reduced form) oxidation.

Author Affiliations
From the Division of Child Neurology, Institute of Neurology (Drs Prick, Gabreëls, and Renier), the Institute of Pediatrics (Drs Trijbels and Sengers), and the Institute of Pathology (Dr Slooff), Radboud University Hospital, Nijmegen, The Netherlands.

Footnotes
Accepted for publication March 16, 1981.

Reprint requests to Institute of Neurology, Division of Child Neurology, Radboud University Hospital, Box 9101, 6500 HB Nijmegen, The Netherlands (Dr Gabreëls).

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