Neurophysiologic studies of the peripheral nervous system in nephropathic cystinosis.
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.
Swenson
M R
MR
Department of Neurosciences, University of California, School of Medicine, San Diego.
Rimmer
S
S
Schneider
J A
JA
Melles
R B
RB
Trauner
D A
DA
Katz
B
B
D000293:Adolescent; D000328:Adult; D001767:Blinking; D002648:Child; D002675:Child, Preschool; D003554:Cystinosis / Q000503:physiopathology*; D005260:Female; D006801:Humans; D007674:Kidney Diseases / Q000503:physiopathology*; D008297:Male; D009431:Neural Conduction; D010525:Peripheral Nerves / Q000503:physiopathology*