A 54-year-old man with familial dysautonomia (FD) presented to the emergency room with respiratory failure. He had a history of neurogenic dysphagia with aspiration pneumonias requiring yearly hospitalizations (Supplementary Video). He had been recommended a gastrostomy tube placement to avoid oral nutrition, which he refused. On admission, he was unconscious. Breathing resumed after cardiopulmonary resuscitation and oral and upper respiratory airway suction. Chest computed tomography revealed a dilated esophagus containing undigested macaroni and pneumonia (Fig. 1).

Neurogenic dysphagia leading to aspiration pneumonia is a cardinal feature of FD and can be the presenting neonatal feature [1, 5]. Protective airway reflexes, mediated by the glossopharyngeal nerve, and orofacial sensation mediated by the trigeminal nerve, are lacking, and food and liquids are easily aspirated into the lung [2, 3]. Most patients with FD will develop chronic lung disease, due in part to recurrent aspiration. A high number of patients eventually require gastrostomy-tube only feedings. Megaesophagus, presumably due to impaired autonomic innervation, has also been reported in patients with FD [4].