Long-term tracking of neurological complications of encephalopathy and myopathy in a patient with nephropathic cystinosis: A case report and review of the literature

Journal of Medical Case Reports

Volumn 2, Issue , 2008, Pages

  Müller, Marcus ^a   Baumeier, Andrea ^a   Ringelstein, E B ^a   Husstedt, I W ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

LEVOTHYROXINE; MERCAPTAMINE; SEROTONIN NORADRENALIN REUPTAKE INHIBITOR;

ADULT; ARTICLE; BRAIN ATROPHY; BRAIN DISEASE; CASE REPORT; CEREBELLUM DISEASE; COMPUTER ASSISTED TOMOGRAPHY; COORDINATION DISORDER; CORNEA OPACITY; CYSTINOSIS; DEPRESSION; DYSPHAGIA; ELECTROMYOGRAPHY; EVENING DOSAGE; EXTRAPYRAMIDAL SYMPTOM; FEMALE; HEADACHE; HUMAN; HYPOTHYROIDISM; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; MOTOR DYSFUNCTION; MUSCLE ATROPHY; MUSCLE WEAKNESS; MYOPATHY; NEPHROPATHIC CYSTINOSIS; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PARESIS; POLYDIPSIA; POLYURIA; PRIORITY JOURNAL; REFLEX DISORDER; RENAL REPLACEMENT THERAPY; SOMNOLENCE; SYMPTOM; TREATMENT RESPONSE; VISUAL DISORDER; VOMITING;

EID: 48649087686     PISSN: 17521947     EISSN: 17521947     Source Type: Journal    
DOI: 10.1186/1752-1947-2-235     Document Type: Article

References (15)

1. Gahl WA Nephropathic cystinosis Pediatr Rev 1997, 18:302-304. 10.1542/ pir.18-9-302 9286148
2. Jonas AJ Conley SB Marshall R Johnson RA Marks M Rosenberg H Nephropathic cystinosis with central nervous system involvement Am J Med 1987, 83:966-970. 10.1016/0002-9343(87)90661-9 3674101
3. Fink JK Brouwers P Barton N Malekzadeh MH Sato S Hill S Cohen WE Fivush B Gahl WA Neurologic complications in long-standing nephropathic cystinosis Arch Neurol 1989, 46:543-548. 2712751
4. Broyer M Tete MJ Guest G Bertheleme JP Labrousse F Poisson M Clinical polymorphism of cystinosis encephalopathy. Results of treatment with cysteamine J Inherit Metab Dis 1996, 19:65-75. 10.1007/BF01799350 8830179
5. Gahl WA Dalakas MC Charnas L Chen KT Pezeshkpour GH Kuwabara T Davis SL Chesney RW Fink J Hutchison HT Myopathy and cystine storage in muscles in a patient with nephropathic cystinosis N Engl J Med 1988, 319:1461-1464. 3185663
6. Harper GS Bernardini I Hurko O Zuurveld J Gahl WA Cystine storage in cultured myotubes from patients with nephropathic cystinosis Biochem J 1987, 243:841-845. 1147933 3663103
7. Charnas LR Luciano CA Dalakas M Gilliatt RW Bernardini I Ishak K Cwik VA Fraker D Brushart TA Gahl WA Distal vacuolar myopathy in nephropathic cystinosis Ann Neurol 1994, 35:181-188. 10.1002/ana.410350209 8109899
8. Sonies BC Ekman EF Andersson HC Adamson MD Kaler SG Markello TC Gahl WA Swallowing dysfunction in nephropathic cystinosis N Engl J Med 1990, 323:565-570. 2381441
9. Vester U Schubert M Offner G Brodehl J Distal myopathy in nephropathic cystinosis Pediatr Nephrol 2000, 14:36-38. 10.1007/s004670050009 10654328
10. Gahl WA Early oral cysteamine therapy for nephropathic cystinosis Eur J Pediatr 2003, 162(Suppl 1):S38-41. 10.1007/s00431-003-1349-x 14610675
11. Sonies BC Almajid P Kleta R Bernardini I Gahl WA Swallowing dysfunction in 101 patients with nephropathic cystinosis: Benefit of long-term cysteamine therapy Medicine 2005, 84:137-146. 10.1097/ 01.md.0000164204.00159.d4 15879904
12. Levine S Paparo G Brain lesions in a case of cystinosis Acta Neuropathol 1982, 57:217-220. 10.1007/BF00685392 7124349
13. Geelen JM Monnens LA Levtchenko EN Follow-up and treatment of adults with cystinosis in the Netherlands Nephrol Dial Transplant 2002, 17:1766-1770. 10.1093/ndt/17.10.1766 12270982
14. Thoene JG Oshima RG Crawhall JC Olson DL Schneider JA Cystinosis. Intracellular cystine depletion by aminothiols in vitro and in vivo J Clin Invest 1976, 58:180-189. 333169 932205 10.1172/JCI108448
15. Humphrey C Cysteamine for cystinosis Lancet 1978, 2:998. 10.1016/ S0140-6736(78)92569-2 82025