Search

Your search keyword '"Prick MJ"' showing total 2 results
Start Over Author "Prick MJ" Journal archives of neurology
2 results on '"Prick MJ"'

2. Progressive infantile poliodystrophy. Association with disturbed pyruvate oxidation in muscle and liver.

Author

Prick MJ, Gabreëls FJ, Renier WO, Trijbels JM, Sengers RC, and Slooff JL

Subjects
Child, Preschool, Diffuse Cerebral Sclerosis of Schilder pathology, Humans, Leg, Liver ultrastructure, Male, Muscles pathology, Muscles ultrastructure, Papillary Muscles ultrastructure, Diffuse Cerebral Sclerosis of Schilder metabolism, Liver metabolism, Muscles metabolism, Pyruvates metabolism
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 psycho-motor 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.

Published
1981
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results