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乌干达东部一名感染艾滋病毒的母亲所生新生儿患无脑叶全前脑畸形并伴有鼻眼发育不全

Alobar Holoprosencephaly with Cebocephaly in a Neonate Born to an HIV-Positive Mother in Eastern Uganda.

作者信息

Sikakulya Franck Katembo, Kiyaka Sonye Magugu, Masereka Robert, Ssebuufu Robinson

机构信息

Faculty of Clinical Medicine and Dentistry, Department of Surgery, Kampala International University Western Campus, Ishaka-Bushenyi, Kampala, Uganda.

Faculty of Medicine, Université Catholique du Graben, Butembo, Democratic Republic of the Congo.

出版信息

Case Rep Otolaryngol. 2021 Oct 25;2021:7282283. doi: 10.1155/2021/7282283. eCollection 2021.

DOI:10.1155/2021/7282283
PMID:34733564
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8560288/
Abstract

BACKGROUND

Holoprosencephaly (HPE) is a rare cerebrofacial abnormality resulting from the complete or partial failure of the diverticulation and cleavage of the primitive forebrain. It has an incidence at birth of 1:16000. . We report a case of a 2600 g newborn female delivered by an HIV-infected mother in whom an antenatal ultrasound scan at 34 weeks' gestation reported features of fetal alobar holoprosencephaly. The neonate was born with cebocephaly, a monkey-like head, and did not survive for more than 30 minutes following delivery by caesarian section despite oxygen therapy.

CONCLUSION

Alobar HPE with cebocephaly remains incompatible with life. In this resource-limited setting, the diagnosis was made clinically, and only an ultrasound scan was performed to confirm the diagnosis. Chromosomal analysis could have given more information.

摘要

背景

前脑无裂畸形（HPE）是一种罕见的脑面部异常疾病，由原始前脑的憩室化和分裂完全或部分失败引起。其出生发病率为1:16000。我们报告一例体重2600克的新生儿女性病例，其母亲为艾滋病毒感染者，妊娠34周时的产前超声扫描报告显示胎儿无脑叶型前脑无裂畸形特征。该新生儿出生时患有鼻眼发育不全、猴头样头部，剖宫产术后尽管进行了氧疗，但存活时间未超过30分钟。

结论

伴有鼻眼发育不全的无脑叶型前脑无裂畸形仍然无法存活。在这种资源有限的情况下，通过临床诊断，仅进行了超声扫描以确诊。染色体分析本可提供更多信息。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8856/8560288/3ea4a9463a3f/CRIOT2021-7282283.005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8856/8560288/a4c50175b6a3/CRIOT2021-7282283.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8856/8560288/a3db650ccef5/CRIOT2021-7282283.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8856/8560288/ec007c8921cb/CRIOT2021-7282283.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8856/8560288/4202f23ec9e9/CRIOT2021-7282283.004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8856/8560288/3ea4a9463a3f/CRIOT2021-7282283.005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8856/8560288/a4c50175b6a3/CRIOT2021-7282283.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8856/8560288/a3db650ccef5/CRIOT2021-7282283.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8856/8560288/ec007c8921cb/CRIOT2021-7282283.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8856/8560288/4202f23ec9e9/CRIOT2021-7282283.004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8856/8560288/3ea4a9463a3f/CRIOT2021-7282283.005.jpg

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