# A Rare Case Report on Holoprosencephaly With Cyclopia: Jimma University Medical Center, Ethiopia

## TL;DR

This case report describes a rare and fatal brain malformation in a fetus, highlighting the importance of early ultrasound for diagnosis and counseling.

## Contribution

The report presents a rare clinical case of cyclopia, emphasizing the role of early ultrasound in diagnosing severe holoprosencephaly.

## Key findings

- A 33-year-old woman delivered a fetus with severe holoprosencephaly and cyclopia.
- Early first-trimester ultrasound is critical for diagnosing and evaluating holoprosencephaly severity.
- Accurate diagnosis aids in counseling families and making informed pregnancy decisions.

## Abstract

Holoprosencephaly is a congenital brain malformation resulting from incomplete division of the forebrain (prosencephalon) into two hemispheres during early embryonic development, typically during the 4th–6th week of gestation. Cyclopia is a rare and fatal form of holoprosencephaly characterized by severe craniofacial abnormalities resulting from incomplete cleavage of the embryonic prosencephalon, leading to the failure of separation of the orbital cavities. The prevalence is 1.31 per 10,000 for live births and 1:250 for spontaneous abortions.

This is a case report of a 33‐year‐old Gravida 5, Para 4 woman with no history of abortion and a prior history of normal vaginal deliveries, who presented to the obstetric triage with a 7‐day history of absent fetal movements. After a detailed history was taken, a physical examination and ultrasound scan confirmed an intrauterine fetal death. Termination of the pregnancy was decided after the mother was counseled on the possible outcome of the pregnancy. Induction with misoprostol per the hospital protocol was given to deliver an 1800‐g, Grade 3 macerated male fetus with a diagnosis of a severe form of holoprosencephaly with cyclopia and proboscis.

Although holoprosencephaly is rare, early first‐trimester anatomical ultrasound conducted by an experienced clinician is critical for accurate diagnosis, and evaluation of severity is pivotal for counseling families regarding expected outcomes and pregnancy termination decisions.