Franck Katembo Sikakulya, Sonye Magugu Kiyaka, Robert Masereka, Robinson Ssebuufu
{"title":"Alobar Holoprosencephaly with Cebocephaly in a Neonate Born to an HIV-Positive Mother in Eastern Uganda.","authors":"Franck Katembo Sikakulya, Sonye Magugu Kiyaka, Robert Masereka, Robinson Ssebuufu","doi":"10.1155/2021/7282283","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>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. <i>Case Presentation</i>. 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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":45872,"journal":{"name":"Case Reports in Otolaryngology","volume":null,"pages":null},"PeriodicalIF":0.4000,"publicationDate":"2021-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8560288/pdf/","citationCount":"3","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Case Reports in Otolaryngology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1155/2021/7282283","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2021/1/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"OTORHINOLARYNGOLOGY","Score":null,"Total":0}
引用次数: 3
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. Case Presentation. 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.
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