 |
 |

Neurologic Complications in Long-standing Nephropathic Cystinosis
John K. Fink, MD;
Pim Brouwers, PhD;
Norman Barton, MD, PhD;
H. Malekzadeh Mohammed, MD;
Susumu Sato, MD;
Suvimol Hill, MD;
Warren E. Cohen, MD;
Barbara Fivush, MD;
William A. Gahl, MD, PhD
Arch Neurol. 1989;46(5):543-548.
Abstract
 |  |
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.
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).
Footnotes
Accepted for publication October 27, 1988.
Read before the 40th Annual Meeting of the American Academy of Neurology, Cincinnati, Ohio, April 19, 1988.
Reprint requests to Bldg 10, Room 3D03, National Institutes of Health, Bethesda, MD 20892 (Dr Fink).
CiteULike Connotea Del.icio.us Digg Reddit Technorati
What's this?
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
 |
Nephropathic Cystinosis in Adults: Natural History and Effects of Oral Cysteamine Therapy
Gahl et al.
ANN INTERN MED 2007;147:242-250.
ABSTRACT
| FULL TEXT
Coronary Artery and Other Vascular Calcifications in Patients with Cystinosis after Kidney Transplantation
Ueda et al.
CJASN 2006;1:555-562.
ABSTRACT
| FULL TEXT
Cystinosis
Gahl et al.
NEJM 2002;347:111-121.
FULL TEXT
Pulmonary Dysfunction in Adults With Nephropathic Cystinosis
Anikster et al.
Chest 2001;119:394-401.
ABSTRACT
| FULL TEXT
The Genomic Region Encompassing the Nephropathic Cystinosis Gene (CTNS): Complete Sequencing of a 200-kb Segment and Discovery of a Novel Gene within the Common Cystinosis-Causing Deletion
Touchman et al.
Genome Res 2000;10:165-173.
ABSTRACT
| FULL TEXT
A Cost-Effectiveness Analysis of the Orphan Drug Cysteamine in the Treatment of Infantile Cystinosis
Soohoo et al.
Med Decis Making 1997;17:193-198.
ABSTRACT
Classic Nephropathic Cystinosis as an Adult Disease
Theodoropoulos et al.
JAMA 1993;270:2200-2204.
ABSTRACT
Improved Renal Function in Children with Cystinosis Treated with Cysteamine
Markello et al.
NEJM 1993;328:1157-1162.
ABSTRACT
| FULL TEXT
Neurophysiologic Studies of the Peripheral Nervous System in Nephropathic Cystinosis
Swenson et al.
Arch Neurol 1991;48:528-529.
ABSTRACT
A Randomized Placebo-Controlled Trial of Cysteamine Eye Drops in Nephropathic Cystinosis
Kaiser-Kupfer et al.
Arch Ophthalmol 1990;108:689-693.
ABSTRACT
|