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February 1975

The Oculo-Cerebral-Renal Syndrome of Lowe: Neuromuscular Components

Author Affiliations

From the departments of neurology (Drs. Appenzeller and Snyder) and pathology (Dr. Kornfeld), University of New Mexico School of Medicine, Albuquerque, and the Medical Research Laboratories, Veterans Administration Hospital and the departments of experimental medicine and biologic chemistry, University of Cincinnati College of Medicine, Cincinnati (Dr. MacGee).

Arch Neurol. 1975;32(2):103-107. doi:10.1001/archneur.1975.00490440053008

Clinical, light microscopical, ultrastructural, and biochemical studies were done on nerve and muscle biopsy specimens from five patients with the oculo-cerebral-renal syndrome of Lowe. Four patients were American Indians, a racial group in whom this disease has not previously been recognized. The hypotonia, areflexia, and diffuse atrophy of muscles are associated with slowed motor nerve conduction velocities, and the morphologic changes in sensory nerves are attributed to a "dying-back" phenomenon probably resulting from an unknown metabolic derangement.

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