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Michael R. Swenson, MD; Steve Rimmer, MD; Jerry A. Schneider, MD; Ronald B. Melles, MD; Doris A. Trauner, MD; Barrett Katz, MD

Arch Neurol. 1991;48(5):528-529.

Abstract
• Cystinosis is an autosomal recessive metabolic disorder in which nonprotein cystine accumulates within most body tissues due to a defect in lysosomal cystine transport. Neurologic declarations are only recently being recognized. We studied 13 cystinotic subjects (aged 5 to 21 years old), determining median motor and sensory nerve conduction velocities, F waves, peroneal motor nerve conduction velocities, sural sensory nerve conduction velocities, median sympathetic skin response, electrocardiogram R-to-R variability, and blink reflex analysis. The results were normal. We conclude that neurophysiologic testing suggests relative sparing of the peripheral nervous system in nephropathic cystinosis.

Author Affiliations
From the Departments of Neurosciences (Drs Swenson and Trauner), Ophthalmology (Drs Rimmer and Melles), and Pediatrics (Drs Schneider and Trauner), University of California, San Diego, School of Medicine; and the Pacific Presbyterian Medical Center and the Smith-Kettlewell Eye Research Institute, San Francisco, Calif (Dr Katz).

Footnotes
Accepted for publication November 2, 1990.

Reprint requests to the Pacific Presbyterian Medical Center and the Smith-Kettlewell Eye Research Institute, 2340 Clay St, San Francisco, CA 94115 (Dr Katz).

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