Chest Computed Tomography Findings in Familial Dysautonomia Patients: A Model for Aspiration

Background: Lung disease in patients with familial dysautonomia is caused mainly by recurrent aspiration of gastric contents, food and liquids swallowed incorrectly. Objective: To describe chest computed tomography findings in patients with familial dyautonomia. Methods: A retrospective analysis of chest CT findings was performed for 34 FD patients (15 females, 19 males) with a mean age of 18 +/- 12.8 years. Results: The CT revealed bronchial wall thickening (in 94% of the patients), atelectasis (in 73%), ground glass opacities (in 53%), focal hyperinflation (in 44%), fibrosis (in 29%) and bronchiectasis (in 26%). The extrapulmonary abnormalities were scoliosis (79%) and esophageal dilatation (35%). Silent fractures were noted in two vertebral bodies and one rib. Conclusions: Pulmonary changes were consistent with chronic inflammation in the bronchi and interstitial tissues. Ground glass opacities and fibrosis support the theory that these changes could be due to gastric aspiration. Bronchiectasis is less frequent. Esophageal dilatation with fluid overflow adds to aspiration. Fractures can be asymptomatic and are often missed.