妊娠期产前接触酒精的新生儿脑积水

摘要(中文译文)

无脑畸形（hydranencephaly，HE）是一种罕见的先天性病变，其特征为大脑半球几乎完全缺失，被脑脊液所取代，最常见的原因是宫内双侧颈内动脉闭塞；尽管母亲饮酒与胎儿神经发育异常相关，但其在无脑畸形中的直接作用仍不明确。我们报告一例42岁经产妇，整个孕期有慢性酒精使用史，于40+5周经自然阴道分娩一女婴。该新生儿表现为面部不对称及头顶部柔软肿胀，而反射完整、肌张力正常。孕晚期超声检查曾提示脑积水，出生后颅脑超声证实存在广泛脑组织破坏，大部分脑结构被液体取代。实验室检查包括TORCH筛查均无异常。患儿接受支持性治疗及父母咨询。无脑畸形通常与幼儿期死亡相关，但也有罕见长期存活病例的报道。神经影像学对于鉴别无脑畸形与重度脑积水及脑穿通畸形至关重要，治疗以支持性为主，部分病例可考虑脑室腹腔分流术。本病例强调了早期产前检出、多学科管理以及提高对潜在酒精相关胎儿脑异常认识的重要性，以指导咨询并优化结局。

Abstract

Hydranencephaly (HE) is a rare congenital condition characterized by near-total absence of the cerebral hemispheres, replaced by cerebrospinal fluid, most commonly resulting from in utero bilateral internal carotid artery occlusion; although maternal alcohol consumption is associated with fetal neurodevelopmental abnormalities, its direct role in HE remains unclear. We report a case of a 42-year-old multiparous woman with chronic alcohol use throughout pregnancy who delivered a female neonate at 40 + 5 weeks via spontaneous vaginal delivery. The neonate presented with facial asymmetry and a boggy parietal swelling, while maintaining intact reflexes and normal muscle tone. Third-trimester ultrasonography had suggested hydrocephalus, and postnatal cranial ultrasonography confirmed extensive cerebral destruction with fluid replacing most brain structures. Laboratory investigations, including TORCH screening, were unremarkable. The infant was managed with supportive care and parental counseling. Hydranencephaly is typically associated with early childhood mortality, although rare cases of prolonged survival have been described. Neuroimaging is essential for differentiating HE from severe hydrocephalus and porencephaly, and management remains largely supportive, with ventriculoperitoneal shunting considered in selected cases. This case highlights the importance of early prenatal detection, multidisciplinary management, and increased awareness of potential alcohol-related fetal brain abnormalities to guide counseling and optimize outcomes.

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