Shinde Sweety, Singhal Shikha
Nair Hospital, Department of Histopathology, Nair Road, Mumbai, Maharashtra, 400008, India.
BMJ Case Rep. 2009;2009. doi: 10.1136/bcr.04.2009.1811. Epub 2009 Aug 19.
Meningomyelocele is one of the commonest neural tube closure defects. A 2-month-old girl presented with meningomyelocele in the lumbosacral region that had been present since birth. She had experienced paraparesis for 1 month. Terminally, she had excessive crying, and died within 1 week of presentation. An autopsy revealed focally infected meningomyelocele with features of Arnold-Chiari II malformation. Associated malformations included polymicrogyria, neuronal heterotopias and neuronal cytomegaly in the brainstem. Cortical malformations may be detected radiologically, thus prompting surgical intervention and reduced mortality. By contrast, the presence of cytomegaly may hinder postsurgical improvement, affecting intellectual outcome in survivors in particular. New genetic revelations also offer a scope for genetic counselling in these conditions.
脊髓脊膜膨出是最常见的神经管闭合缺陷之一。一名2个月大的女孩自出生起就患有腰骶部脊髓脊膜膨出。她出现双下肢轻瘫已有1个月。临终时，她哭闹不止，并在就诊后1周内死亡。尸检发现局部感染的脊髓脊膜膨出伴有阿诺德-奇阿利II型畸形的特征。相关畸形包括多小脑回、神经元异位和脑干神经元细胞肿大。皮质畸形可通过影像学检测到，从而促使进行手术干预并降低死亡率。相比之下，细胞肿大的存在可能会阻碍术后恢复，尤其影响幸存者的智力发育。新的基因发现也为这些情况的遗传咨询提供了空间。
