title: 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.affiliation: Department of Pediatric Nephrology, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: M
authors.initials: M
authors.lastname: Broyer
authors.forename: M J
authors.initials: MJ
authors.lastname: Tête
authors.forename: G
authors.initials: G
authors.lastname: Guest
authors.forename: J P
authors.initials: JP
authors.lastname: Berthélémé
authors.forename: F
authors.initials: F
authors.lastname: Labrousse
authors.forename: M
authors.initials: M
authors.lastname: Poisson
mesh_terms: D000293:Adolescent; D000328:Adult; D001284:Atrophy / Q000473:pathology; D001921:Brain / Q000473:pathology; D001927:Brain Diseases / Q000188:drug therapy* / Q000209:etiology* / Q000473:pathology; D002648:Child; D003543:Cysteamine / Q000627:therapeutic use*; D003554:Cystinosis / Q000150:complications / Q000188:drug therapy* / Q000235:genetics*; D005260:Female; D006801:Humans; D016030:Kidney Transplantation; D008279:Magnetic Resonance Imaging; D008297:Male; D011110:Polymorphism, Genetic / Q000235:genetics*
chemical_list: D003543:Cysteamine