Research and Reports in Neonatology (Feb 2024)
Ethmocephaly, the Rarest Sub-Type of Holoprosencephaly: A Case Report
Abstract
Girma Geta,1 Telila Mesfin,2 Mesfin Tsegaye,2 Tufa Bobe,3 Bonsa Bikila,1 Feleke Chefik Hailu,4 Tafese Dejene5 1Madda Walabu University, Goba General Hospital, Department of Midwifery, Goba, Oromia, Ethiopia; 2Madda Walabu University, Goba General Hospital, School of Medicine, Goba, Oromia, Ethiopia; 3Department of Obstetrics and Gynecology, Madda Walabu University, Goba Referral Hospital, Goba, Oromia, Ethiopia; 4Madda Walabu University, Goba General Hospital, Department of Nursing, Goba, Oromia, Ethiopia; 5Dire Dawa University, Department of Obstetrics and Gynecology, Dire Dawa, EthiopiaCorrespondence: Girma Geta, Tel +251920954580, Email [email protected]: Holoprosencephaly results from incomplete cleavage of the forebrain during embryogenesis. Clinical phenotypes vary from mild to severe. We present a case of a liveborn infant with the most severe form of holoprosencephaly, ethmocephaly, which in most cases is incompatible with survival beyond the immediate newborn period.Case: A 2000 gram, male infant was born to a 28-year-old gravida who was human immunodeficiency virus (HIV)-positive and receiving antiretroviral therapy. At birth the infant was lethargic and had poor respiratory effort with central and peripheral cyanosis. On physical examination, we found ocular hypotelorism, a 6 cm midline proboscis located above the eyes and absent nasal structures.Conclusion: Early detection by the prenatal ultrasound examination is important pregnancy and birth planning and to anticipate expected outcomes. Further study is indicated to understand the contribution of HIV infection and its treatment to the development and severity of holoprosencephaly.Keywords: ethmocephaly, holoprosencephaly, hypotelorism, proboscis
