Progressive Infantile Poliodystrophy (Alpers' Disease) with a Defect in Citric Acid Cycle Activity in Liver and Fibroblasts

M. J. J. Prick; F. J. M. Gabreëls; W. O. Renier; J. M. F. Trijbels; J. L. Willems; A. J. M. Janssen; J. L. Slooff; J. A. G. Geelen; J. P. de Jager

doi:10.1055/s-2008-1059608

Neuropediatrics 1982; 13(2): 108-111
DOI: 10.1055/s-2008-1059608

Progressive Infantile Poliodystrophy (Alpers' Disease) with a Defect in Citric Acid Cycle Activity in Liver and Fibroblasts

M. J. J. Prick¹ , F. J. M. Gabreëls¹ , W. O. Renier¹ , J. M. F. Trijbels² , J. L. Willems² , A. J. M. Janssen² , J. L. Slooff³ , J. A. G. Geelen⁴ , J. P. de Jager⁵

¹Department of Child Neurology, Institute of Neurology, Radboud University Hospital, Nijmegen
²Institute of Pediatrics, Radboud University Hospital, Nijmegen
³Department of Neuropathology, Institute of Pathologic Anatomy, Radboud University Hospital, Nijmegen
⁴Department of Submicroscopic Morphology, Institute of Pathologic Anatomy, Nijmegen
⁵Department of Pediatrics, St. Lambertus Hospital, Helmond

Abstract

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Abstract

We present the case history of a boy, who died at the age of 31/2; years after a rapidly progressive neurologic disorder, characterized by psychomotor retardation, hypotonia, hemiparesis, seizures and myoclonic contractions. Histopathological studies showed slight lipid storage in liver. Autopsy showed the characteristic features of progressive infantile poliodystrophy (Alpers' disease); ultrastructural examination showed an increased density of mitochondria in cerebral gray matter. Biochemical studies in leukocytes, cultured fibroblasts and liver indicated a deficiency in the citric acid cycle between succinate and fumarate; this deficiency was not present in muscle tissue.

This study supports the view that progressive infantile poliodystrophy is associated with abnormalities in pyruvate metabolism and/or in cell mitochondria.

Key words

Progressive infantile poliodystrophy - Diffuse cerebral sclerosis - Citric acid cycle - Liver - Lactates - Mitochondria

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