Arch Fr Pediatr. 1985 May;42(5):373-5.

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

[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.

PMID:: 3935090; [PubMed - indexed for MEDLINE]

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Hurler-Scheie phenotype: a report of two pairs of inbred sibs. [Hum Genet. 1979]
Hurler-Scheie phenotype: a report of two pairs of inbred sibs.
Kaibara N, Eguchi M, Shibata K, Takagishi K. Hum Genet. 1979; 53(1):37-41.
Review The clinical spectrum of alpha-L-iduronidase deficiency. [Am J Med Genet. 1985]
Review The clinical spectrum of alpha-L-iduronidase deficiency.
Roubicek M, Gehler J, Spranger J. Am J Med Genet. 1985 Mar; 20(3):471-81.
Hybridization studies of fibroblasts from Hurler, Scheie, and Hurler/Scheie compound patients: support for the hypothesis of allelic mutants. [Hum Genet. 1980]
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Fortuin JJ, Kleijer WJ. Hum Genet. 1980 Feb; 53(2):155-9.
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[Compound Hurler-Scheie disease in 3 siblings].
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[Psychotic symptoms during the evolution of dementia in muco- polysaccharidosis ...
[Psychotic symptoms during the evolution of dementia in muco- polysaccharidosis of Hurler-Scheie phenotype].
Arch Fr Pediatr. 1985 May ;42(5):373-5.

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

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