Early fatal pontocerebellar hypoplasia in premature twin sisters.
Early fatal pontocerebellar hypoplasia in premature twin sisters.
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DOI：
10.1053/ejpn.2000.0295
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发表时间：
2000-01-01
期刊：
影响因子：
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通讯作者：
Haenggeli, C A
中科院分区：
文献类型：
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作者：
Chaves-Vischer, V;Pizzolato, G P;Haenggeli, C A
我们报告了一对同卵双胞胎姐妹篇的临床、神经放射学和神经病理学发现，她们在孕30周时出生，患有脑桥小脑发育不全（PCH），与2型PCH相似但不相同。他们表现为肌张力亢进、神经过敏、自发性和诱发性肌阵挛性抽搐（hyperkplexia）、呼吸暂停发作和进行性小头畸形。它们在7周龄时死于呼吸衰竭。
We report clinical, neuroradiological and neuropathological findings of monozygotic twin sisters born at 30 weeks' gestation, with pontocerebellar hypoplasia (PCH) similar but not identical to type 2 PCH. They presented with hypertonia, jitteriness, spontaneous and provoked myoclonic jerks (hyperekplexia), apnoeic episodes, and progressive microcephaly. They died at 7 weeks of age from respiratory failure.