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Lipid storage myopathy in Kearns-Sayre syndrome

Irena Niebrój-Doblosz, MD, Barbara Ryniewicz, MD, Anna Fidziaska, MD and Barbara Badurska, MD

From the Department of Neurology, Medical School, Warsaw, Poland.

A 7-year-old girl had external ophthalmoplegia, limb weakness, short stature, hearing loss, pigmentary degeneration of the retinal, and increased CSF protein content. Muscle biopsy revealed vacuolar myopathy with accumulation of lipids. Electronmicroscopy showed abnormalities of shape, size, and internal structure of muscle mitochondria. Muscle activity of palmitoyl-CoA synthetase was decreased, and the content of lipids was increased. Serum and muscle carnitine levels were normal, as were muscle carnitine palmitoyltransferase and carnitine acetyltransferase.

Address correspondence and reprint requests to Dr. Niebrój-Dobosz, Department of Neurology, Medical School, ul. Lindleya 4, 02–005 Warsaw, Poland.

This work is supported by the Polish Academy of Science, Project No. 10.4.2.02.

Accepted for publication January 24, 1985.