In the face of alobar holoprosencephaly: A case report

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Published: 2026-04-16
DOI: https://doi.org/10.7196/
Keywords:
Alobar Holoprosencephaly

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K-L Hills
Department of Paediatrics and Child Health, Rahima Moosa Mother and Child Hospital, Johannesburg, South Africa
M Khan
Department of Paediatrics and Child Health, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa
https://orcid.org/0000-0001-7123-1007
J Fredericks
Department of Paediatrics and Child Health, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa
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 characterised by a single cerebral hemisphere and 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 mono ventricle and fused thalami. This report highlights the diagnostic challenges, multifactorial aetiology and the need for multidisciplinary care in managing this complex condition, emphasising its poor prognosis and associated complications.





Article Details

Issue

SAJCH Vol. 20 No. 1

Section

Case report
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How to Cite

In the face of alobar holoprosencephaly: A case report. (2026). South African Journal of Child Health, 20(1), e3037. https://doi.org/10.7196/

References

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