[Psychotic symptoms during the evolution of dementia in muco- polysaccharidosis of Hurler-Scheie phenotype]

Arch Fr Pediatr. 1985 May;42(5):373-5.
[Article in French]

Abstract

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.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Adolescent
  • Glycoside Hydrolases / deficiency
  • Humans
  • Male
  • Mucopolysaccharidoses / genetics
  • Mucopolysaccharidoses / physiopathology*
  • Mucopolysaccharidosis I / complications
  • Mucopolysaccharidosis I / physiopathology*
  • Mucopolysaccharidosis I / psychology
  • Mutation
  • Phenotype
  • Psychotic Disorders / etiology*

Substances

  • Glycoside Hydrolases