Dugas M, Le Heuzey M F, Mayer M
Arch Fr Pediatr. 1985 May;42(5):373-5.
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.
该病例报告涉及一名17岁半的青少年,其表现为完全性α-L-艾杜糖醛酸酶缺乏。其表型介于Hurler综合征和Scheie综合征之间,且出现了一种谵妄和幻觉状态,在持续的亚谵妄和兴奋状态下急性加重,使得该病例较为特殊。本病例报告与盎格鲁-撒克逊文献中的30例病例进行了比较,结果显示,除了精神症状罕见(仅有1例)外,还存在多种可能的表型,这强化了多等位基因甚至非等位基因突变的假说。