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Pieter L. J. A. Bernsen, MD; Fons J. M. Gabreëls, MD, PhD; Wim Ruitenbeek, PhD; Rob C. A. Sengers, MD, PhD; Ad M. Stadhouders, MD, PhD; Willie O. Renier, MD, PhD

Arch Neurol. 1991;48(3):334-338.

Abstract
• We describe a 6-year-old boy who presented with progressive muscle weakness. Additional investigations revealed the existence of a myopathy and a pure motor neuropathy. Biochemical studies in muscle tissue showed a defect of NADH dehydrogenase (complex I). The patient dramatically improved on treatment with riboflavin and L-carnitine. Seven months after the start of the treatment, complex I activity was determined again and appeared to be normalized. Normalization of the enzymatic defect at this level has not been reported before. We provide a survey of nine patients with pure myopathy, associated with complex I deficiency and onset of symptoms in childhood.

Author Affiliations
From the Institute of Neurology, Department of Child Neurology (Drs Bernsen, Gabreëls, and Renier), the Institute of Pediatrics (Drs Ruitenbeek and Sengers), and the Institute of Cell Biology (Dr Stadhouders), St Radboud University Hospital, Nijmegen, the Netherlands.

Footnotes
Accepted for publication June 29, 1990.

Presented in part at the 14th World Congress of Neurology, New Delhi, India, October 24, 1989.

Reprints not available.

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