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May 1989

Neurologic Complications in Long-standing Nephropathic Cystinosis

Author Affiliations

From the National Institute of Neurologic and Communicative Disorders and Stroke (Drs Fink, Barton, and Sato), the National Institutes of Health Clinical Center Radiology Department (Dr Hill), the National Institute of Child Health and Human Development (Dr Gahl), the National Cancer Institute (Dr Brouwers), Bethesda, Md; Olive View-UCLA Medical Center, Sylmar, Calif (Dr Malekzadeh); the Division of Medical Genetics, Children's Hospital of Los Angeles (Dr Cohen); and the Department of Pediatrics, Johns Hopkins University, Baltimore, Md (Dr Fivush).

Arch Neurol. 1989;46(5):543-548. doi:10.1001/archneur.1989.00520410077027

• 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.