AUTOSOMAL DOMINANT SYNDROME OF LIPID NEURO-MYOPATHY WITH NORMAL CARNITINE - SUCCESSFUL TREATMENT WITH LONG-CHAIN FATTY-ACID-FREE DIET

A family (mother and 2 sons) have had lifelong muscle weakness and intolerance to fatty food. Histochemistry of muscle biopsies of all 3 patients demonstrated increased lipids in type I muscle fibers and type II muscle fiber atrophy and paucity. Electron microscopy os muscle revealed increased lipids, abnormal mitochondria and increased lipofuscin granules. Electron microscopy 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 [carnitine palmityl transferase] 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.