Bulakhova L A, Semenova I A, Pen'kovskaia N P
Zh Nevropatol Psikhiatr Im S S Korsakova. 1984;84(9):1350-3.
The authors describe the clinical picture of hereditary purinosis with predominantly psychopathological manifestations in 12 boys, aged 12-15 years, identified among slightly oligophrenic children on the basis of the psychopathological similarity with the classical Lesh-Nyhan syndrome and the determination of the activity of purine phosphoribosyl transferases in erythrocyte lysates. The authors believe that diagnostically significant in such cases is a specific complex of disorders at the instinctive-emotional, psychomotor and intellectual levels. They also claim that this variant of hereditary purinosis is more prevalent than the classical one.
作者描述了12名年龄在12至15岁男孩的遗传性嘌呤代谢障碍的临床症状,这些症状主要为精神病理学表现。这些男孩是在轻度智力发育迟缓儿童中发现的,基于与经典莱施-奈恩综合征在精神病理学上的相似性以及对红细胞裂解液中嘌呤磷酸核糖转移酶活性的测定。作者认为,在这些病例中具有诊断意义的是本能情绪、精神运动和智力水平上特定的一组障碍。他们还声称,这种遗传性嘌呤代谢障碍的变体比经典类型更为常见。