DIAGNOSTIC DIFFICULTIES IN CASES OF SUDDEN-DEATH IN INFANTS WITH MANDIBULAR HYPOPLASIA

Infants with mandibular hypoplasia are at risk of sudden death from ca rdiorespiratory arrest secondary to upper airway obstruction. To evalu ate diagnostic difficulties that may occur at autopsy in such infants, the autopsy files at the Adelaide Children's Hospital (AGH) for 36 ye ars, 1959 to 1994, were reviewed. Eight cases were identified (age ran ge, 2 days to 10 months; mean age, 2.2 months; male/female ratio, 5:3) . In all cases, death was considered most likely due to airway obstruc tion related to mandibular hypoplasia or its treatment. Although death occurred in the hospital in five cases, one infant suddenly collapsed at home while feeding and died, and two infants were unexpectedly fou nd dead in their cribs at home. Three infants had defined genetic synd romes. Although all the infants had histories of antemortem airway obs truction, one infant had normal oxygen saturation studies before hospi tal discharge, and one infant had a tracheostomy. Acute bronchopneumon ia was an exacerbating factor in one case. Assessment of mandibular si ze is important in any infant who dies unexpectedly; and if hypoplasia is found, careful review of the clinical details for evidence of airw ay obstruction is necessary to help distinguish these cases from sudde n infant death syndrome (SIDS). Sudden death may, however, occur in in fants with mandibular hypoplasia in spite of apparent clinical stabili ty before death with no significant recent episodes of oxygen desatura tion.