Cerebellar vermis defect, oligophrenia, congenital ataxia, and hepatic fibrocirrhosis without coloboma and renal abnormalities: Report of three cases
Cerebellar vermis defect, oligophrenia, congenital ataxia, and hepatic fibrocirrhosis without coloboma and renal abnormalities: Report of three cases
复制标题
DOI：
10.1055/s-2002-34492
复制
发表时间：
2002-08-01
期刊：
影响因子：
1.4
通讯作者：
Pascotto, A
中科院分区：
文献类型：
--
作者：
Coppola, G;Vajro, P;Pascotto, A
我们描述了 3 名患有小脑蚓部缺陷的儿童（2 名 10 岁和 3 岁的兄弟姐妹，1 名 13 岁的散发病例），这些缺陷与少智症、先天性共济失调和肝纤维化硬化有关。与 COACH 综合征报道的不同，不存在缺损和肾脏受累。由于一名患者的肝脏受累是亚临床的，并且早期治疗似乎可以防止疾病进展，因此对于任何患有共济失调和小脑中线缺陷的患者都应该仔细检查是否存在肝脏疾病。
We describe 3 children (2 siblings aged 10 and 3 years, and 1 sporadic case aged 13 years) with cerebellar vermis defect associated with oligophrenia, congenital ataxia, and hepatic fibrocirrhosis. Differently from what is reported in COACH syndrome, coloboma and renal involvement were absent. Since in one patient hepatic involvement was subclinical and early therapy seemed to prevent disease progression, the presence of liver disease should be carefully investigated in any patient with ataxia and midline cerebellar defects.