Neurophysiologic studies of the peripheral nervous system in nephropathic cystinosis

Arch Neurol. 1991 May;48(5):528-9. doi: 10.1001/archneur.1991.00530170092026.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Blinking
  • Child
  • Child, Preschool
  • Cystinosis / physiopathology*
  • Female
  • Humans
  • Kidney Diseases / physiopathology*
  • Male
  • Neural Conduction
  • Peripheral Nerves / physiopathology*