Neurodevelopmental outcome in prenatally diagnosed isolated agenesis of the corpus callosum
Neurodevelopmental outcome in prenatally diagnosed isolated agenesis of the corpus callosum
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DOI：
10.1111/j.1651-2227.2008.00688.x
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发表时间：
2008-04-01
期刊：
影响因子：
3.8
通讯作者：
Marret, S.
中科院分区：
文献类型：
--
作者：
Chadie, A.;Radi, S.;Marret, S.
目的：评估产前诊断为孤立性胼胝体发育不全（ACC）的儿童的长期神经发育结果。我们回顾性分析了1991年1月至2003年11月在法国上诺曼底地区出生的20名产前诊断为孤立性ACC的儿童的数据。我们收集了产前和产后神经影像学检查结果的数据，结果：随访3 ~ 16年。ACC完全性11例（55%），部分性2例（10%），发育不良3例（15%），伴纵裂囊肿4例（20%）。11例（55%）患者的神经发育结局正常，包括8例完全性ACC; 5例（25%）患者中度残疾，4例（20%）患者重度残疾。在3的4例严重残疾，出生后的脑磁共振成像（MRI）显示额外的主要脑abnormality.Conclusion：神经发育的结果是好的，在我们的大多数患者与孤立的ACC，80%的患者有正常的结果或中度残疾。产前诊断为孤立的ACC可能不需要终止妊娠。仔细解释产前脑MRI是至关重要的，以发现相关的脑异常，更长的后续行动是必要的，以寻找中度残疾。
Aim: To evaluate long-term neurodevelopmental outcomes in children with prenatally diagnosed, isolated agenesis of the corpus callosum (ACC).Methods: We retrospectively reviewed data for 20 children born between January 1991 and November 2003 in the Haute-Normandie region of France with a prenatal diagnosis of isolated ACC. We collected data on pre-and postnatal neuroimaging findings, clinical features at birth and neurodevelopmental outcomes.Results: Follow-up ranged from 3 to 16 years. ACC was complete in 11 patients (55%), partial in 2 (10%), hypoplastic in 3 (15%) and associated with an interhemispheric cyst in 4 (20%). Neurodevelopmental outcome was normal in 11 (55%) patients, including 8 with complete ACC; moderate disability was present in 5 (25%) patients and severe disability in 4 (20%) patients. In 3 of the 4 patients with severe disability, postnatal cerebral magnetic resonance imaging (MRI) showed additional major cerebral abnormalities.Conclusion: Neurodevelopmental outcome was good in most of our patients with isolated ACC, with 80% of patients having normal outcomes or moderate disabilities. A prenatal diagnosis of isolated ACC may not warrant termination of pregnancy. A carefully interpreted prenatal cerebral MRI is crucial to detect associated cerebral abnormalities; a longer follow-up is necessary to look for moderate disabilities.