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Association With Lipid Myopathy, Vacuolar Neuropathy, and Vacuolated Leukocytes

William R. Markesbery, MD; Michael P. McQuillen, MD; Peter G. Procopis, MD; Alvin R. Harrison, MD; Andrew G. Engel, MD

Arch Neurol. 1974;31(5):320-324.

Abstract
A 61-year-old woman had proximal muscle weakness since 38 years of age. Eventually, her distal muscles became affected and she showed widespread muscle wasting, absent tendon reflexes, and electromyographic findings of a neuropathy. On biopsy, there was a lipid storage myopathy, lipid-containing vacuoles in leukocytes, and vacuoles in Schwann cells. The muscle carnitine level was abnormally low, but the serum carnitine level was normal. The findings are consistent with a generalized disorder of carnitine metabolism that may involve carnitine transport across cell membranes.

Author Affiliations
From the departments of neurology (Drs. Markesbery, McQuillen, and Procopis) and pathology (Dr. Markesbery), University of Kentucky Medical Center, Lexington, and the Department of Neurology and Neuromuscular Research Laboratory (Dr. Engel), Mayo Clinic and Mayo Foundation, Rochester, Minn. Dr. Procopis was an Overseas Fellow of the Postgraduate Committee in Medicine, University of Sydney, Sydney, Australia. Dr. McQuillen is now with the Department of Neurology, Medical College of Wisconsin, Milwaukee.

Footnotes
Accepted for publication March 27, 1974.

Reprint requests to Department of Neurology, College of Medicine, University of Kentucky, Lexington, KY 40506 (Dr. Markesbery).

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