Pullon D H, Ballantyne G H, Webster D, Becroft D M
N Z Med J. 1977 Dec 14;86(601):518-21.
Two brothers were found to have athetoid cerebral palsy, mental and growth retardation and evidence of self mutilation. One had passed a renal calculus and both had high serum uric acid levels. The diagnosis of Lesch-Nyhan syndrome was confirmed by the finding of low levels of hypoxanthine-guanine phosphoribosyl transferase in erythrocytes and by autoradiography of fibriblasts. The mother, maternal grandmother, a female sibling and a maternal aunt were identified as carriers of the X-linked mutation which was responsible for the enzyme deficiency in the two male siblings.
发现两兄弟患有手足徐动型脑性瘫痪、智力和生长发育迟缓并有自残迹象。其中一人曾排出过肾结石，两人血清尿酸水平均高。红细胞中次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶水平低以及成纤维细胞放射自显影结果证实了莱施 - 奈恩综合征的诊断。母亲、外祖母、一个姐妹和一位姨妈被确定为X连锁突变的携带者，该突变导致了两名男性兄弟的酶缺乏。
