Perinatology.
2024 Dec;35(4):146-151. 10.14734/PN.2024.35.4.146.
A Case Report of Alobar Holoprosencepha ly with Cyclopia and Arrhinia: The Long est-Surviving Infant without Life-Sustain ing Interventions
- Affiliations
-
- 1Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
- 2Cell and Gene Therapy Institute for Future Medicine, Samsung Medical Center, Seoul, Korea
- 3Department of Health Science and Technology, Samsung Advanced Institute for Health Sciences & Technology (SAIHST), Sungkyunkwan University, Seoul, Korea
- KMID: 2563893
- DOI: http://doi.org/10.14734/PN.2024.35.4.146
Abstract
- Holoprosencephaly (HPE) is a rare congenital disorder characterized by the incomplete separation of the prosencephalon. The clinical spectrum of HPE depends on the subtypes observed on imaging, which includes lobar, semilobar, and alobar variants. Cyclopia, the most severe form of alobar HPE, is typically associated with early postnatal death within a few days. We report the case of a female infant was born at 38 weeks and 6 days of gestation, weighing 2,410 g, to a 39-year-old mother via vaginal delivery. She was the second baby of dichorionic-diamniotic twins. The neonate was born with multiple defects including facial anomalies such as cyclopia and arrhinia and was diagnosed with alobar HPE with cyclopia. This condition was suspected prenatally at 17 weeks of gestation and confirmed postnatally using brain magnetic resonance imaging. The cause of death in our patient was aspiration pneumonia with aggravated central apnea, and she survived for 8 months (240 days) with comfort care alone, without aggressive life support. This is the first report of an infant with alobar HPE, cyclopia, and arrhinia surviving for 240 days with only comfort care, marking the longest documented survival for this typically lethal condition without invasive interventions.
