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Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia

Departments of Pediatrics (Drs. Shapira, Cederbaum, and Lippe), Psychiatry (Dr. Cederbaum), and Pathology (Dr. Cancilla and Mr. Nielsen), UCLA School of Medicine, Los Angeles.

In two siblings with limb-girdle muscle weakness and episodic headaches and vomiting from early childhood, progressive neurologic degeneration later developed, and both children died. In one child, corticosteroids induced improvement in both cerebral and muscular symptoms that lasted 1 year. This patient had elevated blood, urine, and spinal fluid lactate levels, together with increased cardiac output and oxygen consumption at rest. Several muscle fibers were characterized by a "ragged red" appearance with the trichrome stain. Subsarcolemmal and intermyofibrillar excess of mitochondrial oxidative enzyme reaction product was correlated with abnormal mitochondrial aggregates by electron microscopy. The brain revealed focal areas of cortical degeneration and necrosis with adjacent gliosis or edema. Ferrocalcific deposits were prominent in the globus pallidus. The other sibling had similar changes in the brain at autopsy. This familial multisystem disorder especially involving the brain, skeletal muscle, and heart appears to represent a defect in some mitochondrial oxidative mechanism.

This study was supported in part by the California State Department of Mental Hygiene; the Mental Retardation Program, NIP, UCLA; USPHS grants HD-06576, HD-04612, HD-00345. and HD-05615; and the United Cerebral Palsy Fund.

Read in part before the annual meeting of the American Academy of Neurology, San Francisco, April 1974.

Received for publication November 20, 1974

Reprint requests should be addressed to Dr. Shapira at Department of Pediatrics, Hadassah University Hospital, P.O. Box 499, Jerusalem, Israel. Dr. Cancilla's present address is Department of Pathology, University of Iowa College of Medicine, Iowa City, IA 52242.

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