Neurologic complications in long-standing nephropathic cystinosis
J. K. Fink, P. Brouwers, N. Barton, M. H. Malekzadeh, S. Sato, S. Hill, W. E. Cohen, B. Fivush and W. A. Gahl
National Institute of Neurologic and Communicative Disorders and Stroke Bethesda, Md 20892.
The central nervous system has been considered to be uninvolved in
nephropathic cystinosis. Survival into adulthood, following renal dialysis
and transplantation, has brought attention to the sequelae of long-standing
cystinosis. We examined 14 patients with cystinosis, 12 of whom had
undergone renal transplantation. Two patients had neurologic symptoms. One
patient had progressive bradykinesia, dementia, and spasticity with
computed tomographic scan evidence of cerebral atrophy and multifocal
mineralization in bilateral internal capsules and periventricular white
matter. One patient had behavioral and, to a lesser extent, cognitive
disturbance and computed tomographic scan evidence of marked, progressive
cerebral atrophy. Although the remaining patients had normal results of
neurologic examinations, 11 had roentgenographic evidence of generalized
cerebral atrophy; 2 of these had abnormal electroencephalograms, 1 had
borderline-deficient intellectual function, and 2 had computed tomographic
scan evidence of multifocal, intracerebral mineralization. The patients
with nervous system abnormalities were not distinguished by patterns of
medication use, demographic or laboratory features, or the relative
severity of cystinosis. Although the neurologic involvement in these
patients suggests that cystinosis may eventually involve the central
nervous system, the differential diagnosis must include other complications
from renal failure, dialysis, and immunosuppression.
