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Mitochondrial EncephalomyopathyAssociation With an NADH Dehydrogenase Deficiency
Paul M. M. van Erven, MD;
Fons J. M. Gabreëls, MD, PhD;
Wim Ruitenbeek, PhD;
Willy O. Renier, MD, PhD;
Johan C. Fischer, PhD
Arch Neurol. 1987;44(7):775-778.
Abstract
• A 17-year-old patient had a progressive hypokinetic-rigid syndrome and several other signs and symptoms that indicated central nervous system involvement. Biochemical studies revealed a reduced form of nicotinamide-adenine dinucleotide dehydrogenase deficiency in skeletal muscle. Clinical signs and symptoms, and their association with an established defect of energy metabolism, led us to classify this disorder as a mitochondrial encephalomyopathy of Leigh's type.
Author Affiliations
From the Institute of Neurology (Drs van Erven, Gabreëls, and Renier) and the Institute of Pediatrics (Drs Ruitenbeek and Fischer), St Radboud Hospital, University of Nijmegen, the Netherlands.
Footnotes
Accepted for publication Jan 9, 1987.
Reprint requests to Institute of Neurology, St Radboud University Hospital, Box 9101, 6500 HB Nijmegen, the Netherlands (Dr Garbreëls).
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