Airway Management in an Infant with Alobar Holoprosencephaly and Cebocephaly Associated with Maternal Diabetes Mellitus

Abstract

We report a case of alobar holoprosencephaly (HPE) and cebocephaly associated with uncontrolled maternal type 1 (insulin-dependent) diabetes mellitus. Alobar HPE is the most severe form of HPE. Patients with cebocephaly have ocular hypotelorism and a proboscis with a single, blind-ended nostril. Shortly after our patient was born, we were consulted for airway management, as the parents’ goal was to bringtheir child home. A tracheostomy tube was placed, and choanal atresia repair was eventually performed. The infant was never decannulated, however, and she died at the age of 9 months of acute respiratory distress syndrome secondary to an upper respiratory infection. To the best of our knowledge, this case represents the longest reported survival of an infant with alobar HPE and cebocephaly. Decisions regarding the care of these infants should be made in a collaborative, multidisciplinary fashion, with special attention paid to the primary caregivers’ goals of care.