Forthcoming Issue Vol. 20 No. 1 In the face of Alobar Holoprosencephaly: A Case Report

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Published: 2025-12-12
DOI: https://doi.org/10.7196/
Keywords:
Alobar Holoprosencephaly

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Kelsey-Lynne Hills
Department of Paediatrics and Child Health, Rahima Moosa Mother and Child Hospital
Mahtaab Khan
`Department of Paediatrics and Child Health. University of the Witwatersrand
https://orcid.org/0000-0001-7123-1007
Joy Fredericks
Department of Child and Paediatrics. University of Witwatersrand
https://orcid.org/0000-0001-5091-0772

Abstract

Holoprosencephaly (HPE) is a rare congenital brain malformation caused by incomplete forebrain cleavage during embryogenesis. Alobar HPE, the most severe form, is characterized by a single cerebral hemisphere, absent midline structures, accompanied by severe facial anomalies. We present the case of a neonate with alobar HPE, diagnosed postnatally, displaying facial dysmorphism, seizures, and global hypertonia. Genetic testing revealed no chromosomal or significant genetic anomalies. Neuroimaging confirmed characteristic findings, including a monoventricle and fused thalami. This report highlights the diagnostic challenges, multifactorial aetiology, and the need for multidisciplinary care in managing this complex condition, emphasizing its poor prognosis and associated complications.

Article Details

Issue

SAJCH Vol 19 No. 4

Section

Research
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How to Cite

Forthcoming Issue Vol. 20 No. 1: In the face of Alobar Holoprosencephaly: A Case Report. (2025). South African Journal of Child Health, 19(4). https://doi.org/10.7196/

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