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NEUROLOGY 1990;40:487
© 1990 American Academy of Neurology

Juvenile multiple sclerosis-like episodes associated with a defect of mitochondrial beta oxidation

B. R. Powell, MD, N. G. Kennaway, DPhil, W. J. Rhead, MD, PhD, C. J. Reece, BS, T. G. Burlingame, PhD and N.R.M. Buist, MB, ChB, FRCPE

Departments of Pediatrics (Drs. Powell and Buist), Medical Genetics (Drs. Kennaway, Burlingame, and Buist), and Doernbecher Memorial Hospital for Children, Oregon Health Sciences University, Portland, OR and the Department of Pediatrics and Division of Medical Genetics (Dr. Rhead and C.J. Reece), University of Iowa Hospitals & Clinics, Iowa City, IA.

We describe a young girl who presented with recurrent episodes of central nervous system (CNS) demyelination mimicking multiple sclerosis. Metabolic evaluations and decreased oxidation of [9,10(n)–3H] palmitate demonstrated defective mitochondrial beta oxidation, but complementation studies of the patient's cells, fused with cell lines with known defects of beta oxidation, failed to identify a known disorder. While progressive CNS demyelination has occurred in patients with defective peroxisomal very long-chain fatty acid oxidation, this is the 1st time it has occurred with defective mitochondrial beta oxidation. This patient appears to represent a novel disorder of beta oxidation producing intermittent demyelination with profound CNS symptoms. Recognition of the defect led to appropriate therapy, which caused marked clinical improvement.

Address correspondence and reprint requests to Dr. Berkley R. Powell, Pediatric Metabolic Laboratory/L473, Oregon Health Sciences University, 3181 SW Sam Jackson Park Road, Portland, OR 97201-3098.

Supported in part by grants from the March of Dimes Birth Defects Foundation (#C360 to B.R.P.) and USPHS (#WK-33289 to W.J.R.), and a grant from the Muscular Dystrophy Association (to W.J.R.).

Received October 5,1988. Accepted for publication in final form August 10,1989.






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