Holoprosencephaly (HPE) : case report and review of the literature

INTRODUCTION: Holoprosencephaly (HPE) is a complex brain malformation resulting from a medial cleavage defect of the prosencephalon into right and left hemispheres, occurring during early embryonic development. CASE PRESENTATION: We report an alobar holoprosencephaly diagnosed on imaging (obstetrica...

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Autores principales: Fedoua, Watik, Mouna, Harrad, Hasana, Said, Boufettal, Houssine, Mahdaoui, Sakher, Samouh, Naima
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10509860/
https://www.ncbi.nlm.nih.gov/pubmed/37651805
http://dx.doi.org/10.1016/j.ijscr.2023.108723
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author Fedoua, Watik
Mouna, Harrad
Hasana, Said
Boufettal, Houssine
Mahdaoui, Sakher
Samouh, Naima
author_facet Fedoua, Watik
Mouna, Harrad
Hasana, Said
Boufettal, Houssine
Mahdaoui, Sakher
Samouh, Naima
author_sort Fedoua, Watik
collection PubMed
description INTRODUCTION: Holoprosencephaly (HPE) is a complex brain malformation resulting from a medial cleavage defect of the prosencephalon into right and left hemispheres, occurring during early embryonic development. CASE PRESENTATION: We report an alobar holoprosencephaly diagnosed on imaging (obstetrical ultrasound) and revealed by a polymalformative syndrome in an 8-month-old infant. DISCUSSION: Holoprosencephaly affects the forebrain and face, causing neurological manifestations and facial anomalies of varying severity. HPE is a cerebral midline anomaly. CONCLUSION: Its fetal prognosis is extremely guarded, particularly for the alobar form.
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spelling pubmed-105098602023-09-21 Holoprosencephaly (HPE) : case report and review of the literature Fedoua, Watik Mouna, Harrad Hasana, Said Boufettal, Houssine Mahdaoui, Sakher Samouh, Naima Int J Surg Case Rep Case Report INTRODUCTION: Holoprosencephaly (HPE) is a complex brain malformation resulting from a medial cleavage defect of the prosencephalon into right and left hemispheres, occurring during early embryonic development. CASE PRESENTATION: We report an alobar holoprosencephaly diagnosed on imaging (obstetrical ultrasound) and revealed by a polymalformative syndrome in an 8-month-old infant. DISCUSSION: Holoprosencephaly affects the forebrain and face, causing neurological manifestations and facial anomalies of varying severity. HPE is a cerebral midline anomaly. CONCLUSION: Its fetal prognosis is extremely guarded, particularly for the alobar form. Elsevier 2023-08-26 /pmc/articles/PMC10509860/ /pubmed/37651805 http://dx.doi.org/10.1016/j.ijscr.2023.108723 Text en © 2023 Published by Elsevier Ltd on behalf of IJS Publishing Group Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Fedoua, Watik
Mouna, Harrad
Hasana, Said
Boufettal, Houssine
Mahdaoui, Sakher
Samouh, Naima
Holoprosencephaly (HPE) : case report and review of the literature
title Holoprosencephaly (HPE) : case report and review of the literature
title_full Holoprosencephaly (HPE) : case report and review of the literature
title_fullStr Holoprosencephaly (HPE) : case report and review of the literature
title_full_unstemmed Holoprosencephaly (HPE) : case report and review of the literature
title_short Holoprosencephaly (HPE) : case report and review of the literature
title_sort holoprosencephaly (hpe) : case report and review of the literature
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10509860/
https://www.ncbi.nlm.nih.gov/pubmed/37651805
http://dx.doi.org/10.1016/j.ijscr.2023.108723
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