[Psychotic symptoms during the evolution of dementia in muco- polysaccharidosis of Hurler-Scheie phenotype].
The case reported concerns a 17 1/2 year-old adolescent presenting with complete alpha-L-iduronidase deficiency. Its phenotype intermediate between Hurler's and Scheie's syndromes and the occurrence of a delirious and hallucinatory condition evolving with acute exacerbations on a constant subdelirious and excited state made this case particular. This case report is compared to the 30 in the Anglo-Saxon literature which shows, in addition to the rarity of psychiatric symptoms (one single case), the multiplicity of the possible phenotypes, reinforcing the hypothesis of a polyallelic or even non allelic mutation.
D000293:Adolescent; D006026:Glycoside Hydrolases / Q000172:deficiency; D006801:Humans; D008297:Male; D009083:Mucopolysaccharidoses / Q000235:genetics / Q000503:physiopathology*; D008059:Mucopolysaccharidosis I / Q000150:complications / Q000503:physiopathology* / Q000523:psychology; D009154:Mutation; D010641:Phenotype; D011618:Psychotic Disorders / Q000209:etiology*
D006026:Glycoside Hydrolases
Symptomatologie psychotique au cours de l'évolution démentielle d'une mucopolysaccharidose de phénotype Hurler-Scheie.