伴有小头畸形和运动障碍的脑桥小脑发育不全：两例报告
Pontocerebellar hypoplasia with microcephaly and dyskinesia: report of two cases.
作者信息
Barbot C, Carneiro G, Melo J
机构信息
Serviço de Neuropediatria, Hospital Maria Pia, Porto, Portugal.
出版信息
Dev Med Child Neurol. 1997 Aug;39(8):554-7. doi: 10.1111/j.1469-8749.1997.tb07485.x.
Abstract
We present two clinically diagnosed cases of pontocerebellar hypoplasia with microcephaly and dyskinesia (pontocerebellar hypoplasia type 2) from two different Portuguese families. Both children presented neurological involvement from birth, progressive microcephaly, exuberant chorea and dystonia, myoclonic jerks, pontocerebellar hypoplasia, and progressive cerebral cortical atrophy. One child had consanguineous parents.
摘要
我们报告了来自两个不同葡萄牙家庭的两例临床诊断为伴有小头畸形和运动障碍的脑桥小脑发育不全（2型脑桥小脑发育不全）的病例。两个孩子自出生起就出现神经系统受累，进行性小头畸形，明显的舞蹈症和肌张力障碍，肌阵挛性抽搐，脑桥小脑发育不全，以及进行性大脑皮质萎缩。其中一个孩子的父母是近亲结婚。
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