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先天性脑积水、胼胝体发育不全及前脑囊肿伴鼻孔过多：一种神经嵴病变。

Congenital Hydrocephalus, Corpus Callosum Agenesis, and Prosencephalic Cyst with Supernumerary Nostril: A Neurocristopathy.

作者信息

Gupta Rahul, Barolia Dinesh Kumar, Goyal Manisha

机构信息

Department of Paediatric Surgery, SMS Medical College, Jaipur, Rajasthan, India.

Department of Paediatrics, SMS Medical College, Jaipur, Rajasthan, India.

出版信息

Asian J Neurosurg. 2018 Oct-Dec;13(4):1239-1243. doi: 10.4103/ajns.AJNS_128_17.

DOI:10.4103/ajns.AJNS_128_17
PMID:30459905
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6208241/
Abstract

A 3-month-old-male infant presented with enlargement of head since birth. Clinical and radiological evaluation revealed congenital hydrocephalus, corpus callosum agenesis, prosencephalic cyst, and cranial vault deficiency with supernumerary nostril on the left side. Right ventriculoperitoneal shunt (Chhabra shunt) surgery was performed. The patient did well postoperatively. Parents of the patient have been counseled for repair of supernumerary nostril. Congenital hydrocephalus with corpus callosum agenesis is rare. Furthermore, supernumerary nostril is a very rare anomaly with <40 cases reported in the literature till date. To the best of our knowledge, congenital hydrocephalus, corpus callosum agenesis, prosencephalic cyst, and cranial vault deficiency associated with supernumerary nostril have not been reported till date. We herein briefly review the pertinent literature and describe the embryopathogenesis of this rare association. We propose that this association is a neurocristopathy.

摘要

一名3个月大的男婴自出生以来头部不断增大。临床和影像学评估显示为先天性脑积水、胼胝体发育不全、前脑囊肿以及伴有左侧多余鼻孔的颅顶缺损。实施了右脑室腹腔分流术（Chhabra分流术）。术后患者情况良好。已建议患者父母对多余鼻孔进行修复。先天性脑积水合并胼胝体发育不全较为罕见。此外，多余鼻孔是一种极为罕见的畸形，迄今为止文献报道的病例不足40例。据我们所知，先天性脑积水、胼胝体发育不全、前脑囊肿以及伴有多余鼻孔的颅顶缺损迄今为止尚未见报道。在此，我们简要回顾相关文献并描述这种罕见关联的胚胎发病机制。我们认为这种关联是一种神经嵴病。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9886/6208241/2ec0c5c2a105/AJNS-13-1239-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9886/6208241/e4afa3bf5d49/AJNS-13-1239-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9886/6208241/3b9d43036bfc/AJNS-13-1239-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9886/6208241/944f9ecb4585/AJNS-13-1239-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9886/6208241/3a9dd64e8265/AJNS-13-1239-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9886/6208241/d7f4dd18ccc4/AJNS-13-1239-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9886/6208241/b6f2d5c04dd1/AJNS-13-1239-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9886/6208241/2ec0c5c2a105/AJNS-13-1239-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9886/6208241/e4afa3bf5d49/AJNS-13-1239-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9886/6208241/3b9d43036bfc/AJNS-13-1239-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9886/6208241/944f9ecb4585/AJNS-13-1239-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9886/6208241/3a9dd64e8265/AJNS-13-1239-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9886/6208241/d7f4dd18ccc4/AJNS-13-1239-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9886/6208241/b6f2d5c04dd1/AJNS-13-1239-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9886/6208241/2ec0c5c2a105/AJNS-13-1239-g007.jpg

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本文引用的文献

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2
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Aesthetic Plast Surg. 2015 Aug;39(4):574-7. doi: 10.1007/s00266-015-0501-0. Epub 2015 May 28.
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Supernumerary nostril: Congenital adrenal hyperplasia with a rare congenital anomaly.
与颅神经嵴细胞基因突变相关的脑积水
Orthod Craniofac Res. 2025 May 13. doi: 10.1111/ocr.12942.
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Supernumerary Nostril: A Rare Anomaly.额外鼻孔：一种罕见的异常情况。
Indian J Otolaryngol Head Neck Surg. 2023 Apr;75(Suppl 1):840-842. doi: 10.1007/s12070-022-03454-x. Epub 2023 Jan 9.
额外鼻孔：先天性肾上腺增生合并一种罕见的先天性异常。
Ann Maxillofac Surg. 2014 Jul-Dec;4(2):193-4. doi: 10.4103/2231-0746.147133.
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