Open AccessCongenital complete arhinia with alobar holoprosencephaly
Author(s) -
Adwoa Pokuaa Boakye-Yiadom,
Samuel Blay Nguah,
Haruna Mahama,
Gyikua PlangeRhule
Publication year - 2022
Publication title -
ghana medical journal
Language(s) - English
Resource type - Journals
eISSN - 2616-163X
pISSN - 0016-9560
DOI - 10.4314/gmj.v56i3.14
Subject(s) - medicine , respiratory distress , holoprosencephaly , pediatrics , anencephaly , apnea , continuous positive airway pressure , congenital hypothyroidism , pregnancy , surgery , anesthesia , obstructive sleep apnea , fetus , thyroid , biology , genetics
Congenital arhinia is a life-threatening, rare craniofacial disorder, which, when not identified and managed early can cause severe respiratory distress at birth due to upper airway obstruction. Since neonates are obligate nasal breathers, simultaneous sucking and breathing requirement in neonates with arhinia leads to respiratory distress. Inspiration and expiration through the oral passage alone may result in thoracic retraction, thereby further exacerbating respiratory distress. We report a rare case of congenital complete arhinia with alobar holoprosencephaly in a 9-month-old. With no family history of congenital malformations, maternal risk factors and uneventful pregnancy, a term female neonate was delivered vaginally without immediate post-delivery respiratory distress. Examination revealed microcephaly, absent fontanelles, fused cranial sutures and bilateral microphthalmia. Breathing was spontaneous, with no immediate signs of respiratory distress. An additional diagnosis of alobar holoprosencephaly was made after a head computed tomography (CT) scan was done. Management included the initial stabilisation phase of supplemental oxygen and an orogastric tube for feeding. The baby did not require both tracheostomy and gastrostomy tubes, as she was not in severe respiratory distress requiring a tracheostomy tube nor having difficulties feeding with the orogastric tube.