Case report of alobar holoprosencephaly and review of the literature

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Keywords:

DIAGNÓSTICO PRENATAL; HOLOPROSENCEFALIA; MALFORMACIONES VASCULARES DEL SISTEMA NERVIOSO CENTRAL; ULTRASONOGRAFÍA PRENATAL., PRENATAL DIAGNOSIS; HOLOPROSENCEPHALY; CENTRAL NERVOUS SYSTEM VASCULAR MALFORMATIONS; ULTRASONOGRAPHY, PRENATAL., DIAGNÓSTICO PRÉ-NATAL; HOLOPROSENCEFALIA; MALFORMAÇÕES VASCULARES DO SISTEMA NERVOSO CENTRAL; ULTRASSONOGRAFIA PRÉ-NATAL.

Abstract

Introduction: holoprosencephaly is a congenital malformation of the forebrain characterized by incomplete division of the cerebral hemispheres and midline structures, with high mortality and frequent association with facial anomalies.

Objective: to present a clinical case of alobar holoprosencephaly diagnosed prenatally by ultrasound and to discuss its clinical and prognostic implications in light of the scientific literature.

Case presentation: a 16-year-old primigravida, with no relevant medical history, presented for ultrasound screening for chromosomal abnormalities. Obstetric ultrasound revealed a single, live, and active fetus with an estimated gestational age of 12,4 weeks. Findings were consistent with alobar holoprosencephaly (absence of choroid plexuses, thalamic and cerebral fusion, persistence of a single ventricle, and absence of the interhemispheric fissure). Cranial morphology appeared normal; however, it was recommended to rule out midline facial abnormalities, such as cleft palate and hypertelorism, through a detailed second-trimester morphological ultrasound. In addition, invasive genetic studies—such as amniocentesis or chorionic villus sampling—were advised to exclude trisomy 13 or other associated chromosomal anomalies. The prognosis was considered poor, given its incompatibility with extrauterine life in most cases.

Conclusions: alobar holoprosencephaly represents the most severe form of this cerebral malformation. Early prenatal diagnosis by ultrasound is essential to classify severity, guide complementary studies, and provide genetic counseling. Accurate identification enables informing parents about the prognosis and planning an appropriate multidisciplinary management strategy.

 

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References

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Published

2025-12-16

How to Cite

1.
Chachalo-Sandoval MG, Mier-Báez CD, Chachalo-Sandoval MG. Case report of alobar holoprosencephaly and review of the literature. Rev Ciencias Médicas [Internet]. 2025 Dec. 16 [cited 2026 Jan. 3];29(1):e6978. Available from: https://revcmpinar.sld.cu/index.php/publicaciones/article/view/6978

Issue

Vol. 29 No. 1 (2025): Suplemento 1

Section

CASE REPORTS

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