Clinical polymorphism of cystinosis encephalopathy. Results of treatment with cysteamine.

Abstract

Of the 26 cystinotic patients over 19 years of age followed in our institution, 7 developed CNS complications at a mean age of 23 years. Two forms were observed. The first, associating cerebellar and pyramidal signs, mental deterioration and finally pseudo-bulbar palsy, may be called cystinosis encephalopathy. The other form resembled a stroke-like episode with coma and hemiplegia or milder symptoms. Hydrocephalus was rare and not associated with clinical symptoms in this series. Cysteamine was administered for longer than 6 months to 4 of the patients with encephalopathy. Two had an almost complete disappearance of their symptoms including the gross abnormalities of MR imaging in one; one improved partially and remained stable, and one continued to deteriorate but was suspected of non-compliance. These results suggest that cysteamine may be an effective treatment of cystinosis encephalopathy and encourage prescription of this drug in cystinosis in order to prevent this complication.

• Authors: M Broyer, M J Tête, G Guest, J P Berthélémé, F Labrousse, M Poisson
• Journal: Journal of inherited metabolic disease (J Inherit Metab Dis) Vol. 19 Issue 1 Pg. 65-75 ( 1996) ISSN: 0141-8955 [Print] United States
• PMID: 8830179 (Publication Type: Case Reports, Clinical Trial, Journal Article)

Chemical References

• Cysteamine

Topics

• Adolescent
• Adult
• Atrophy (pathology)
• Brain (pathology)
• Brain Diseases (drug therapy, etiology, pathology)
• Child
• Cysteamine (therapeutic use)
• Cystinosis (complications, drug therapy, genetics)
• Female
• Humans
• Kidney Transplantation
• Magnetic Resonance Imaging
• Male
• Polymorphism, Genetic (genetics)