Yiş Uluç, Dirik Eray, Gündoğdu-Eken Asli, Başak A Nazli
Division of Child Neurology, Gaziantep Children's Hospital, Gaziantep, Turkey.
Turk J Pediatr. 2009 Nov-Dec;51(6):610-2.
Dentatorubral pallidoluysian atrophy is a neurodegenerative disease that generally presents in adulthood. Although rare, it can be observed in childhood due to extreme expansion of the triplet repeat size during spermatogenesis. The diagnosis in childhood is very difficult in the absence of family history. Here we describe a 12-year-old girl with dentatorubral pallidoluysian atrophy who presented with progressive myoclonic epilepsy and ataxia. Family history exhibited similarly affected cases on the paternal side. Molecular testing for dentatorubral pallidoluysian atrophy revealed abnormal "cytosine-adenine-guanosine" expansion in the atrophin-1 gene.
齿状核红核苍白球路易体萎缩症是一种通常在成年期出现的神经退行性疾病。虽然罕见，但由于精子发生过程中三联体重复序列大小的极端扩增，在儿童期也可观察到。在没有家族史的情况下，儿童期的诊断非常困难。在此，我们描述了一名12岁患有齿状核红核苍白球路易体萎缩症的女孩，她表现为进行性肌阵挛癫痫和共济失调。家族史显示父系有类似受影响的病例。齿状核红核苍白球路易体萎缩症的分子检测显示萎缩素-1基因存在异常的“胞嘧啶-腺嘌呤-鸟苷”扩增。
