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NEUROLOGY 1985;35:66
© 1985 American Academy of Neurology

Autosomal dominant syndrome of lipid neuromyopathy with normal carnitine

Successful treatment with long-chain fatty-acid-free diet

Valerie Askanas, MD, PhD, W. King Engel, MD, Helen H. Kwan, MS, N. Bojji Reddy, PhD, Taher Husainy, MD, Jose Carlo, MD, Teepu Siddique, MD, Robert J. Schwartzman, MD and Carol J. Hanna, MD

USC Neuromuscular Center, Department of Neurology, University of Southern California School of Medicine, Los Angeles, CA (Drs. Askanas, Engel, Reddy, Husainy, Carlo, Siddique, and Ms. Kwan), Jefferson Medical College, Philadelphia, PA (Dr. Schwartzman), and the Hospital of the Good Samaritan, Los Angeles, CA (Dr. Hanna).

A family (mother and two sons) have had lifelong muscle weakness and intolerance to fatty food. Histochemistry of muscle biopsies of all three patients demonstrated increased lipids in type I muscle fibers and type II muscle fiber atrophy and paucity. Electronmicroscopy of muscle revealed increased lipids, abnormal mitochondria, and increased lipofuscin granules. Electronmicroscopy of sural nerve showed inclusions in most of the Schwann cell cytoplasm, with lipid droplets, zebra bodies, lipofuscin granules, and abnormal mitochondria. Carnitine and CPT I and II levels were normal in serum and muscle. Treatment with long-chain fatty-acid-free diet resulted in remarkable clinical improvement and in decrease of lipid droplets in the muscle. This dietary program may be useful in other forms of lipid myopathy.

Address correspondence and reprint requests to Dr. Askanas, USC Neuromuscular Center, 637 South Lucas Avenue, Los Angeles, CA 90017.

Supported in part by the Muscular Dystrophy Association.

Presented in part at the thirty-fifth annual meeting of the American Academy of Neurology, San Diego, CA, April 1983.

Accepted for publication April 10, 1984.






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