Coppola G, Muras I, Pascotto A
Clinic of Child Neuropsychiatry, Department of Pediatrics, Second University of Naples, Naples, Italy.
Brain Dev. 2000 May;22(3):188-92. doi: 10.1016/s0387-7604(00)00093-0.
We describe two sisters affected by pontocerebellar hypoplasia type 2 associated with microcephaly, hypertonia, severe choreiform movements, an almost complete lack of psychomotor development, and generalized tonic-clonic seizures. Clinical and neuroradiological findings ruled out other conditions associated with pontocerebellar hypoplasia, i.e. pontocerebellar hypoplasia type 1, carbohydrate-deficient glycoprotein syndrome, and olivopontocerebellar hypoplasia/atrophy.
我们描述了两名患有2型脑桥小脑发育不全的姐妹，她们伴有小头畸形、张力亢进、严重舞蹈样动作、几乎完全缺乏精神运动发育以及全身性强直阵挛发作。临床和神经放射学检查结果排除了与脑桥小脑发育不全相关的其他病症，即1型脑桥小脑发育不全、糖蛋白缺乏综合征以及橄榄脑桥小脑发育不全/萎缩。
