Abstract Pulmonary complications of ataxia telangiectasia (AT) include: recurrent sinopulmonary infections with a risk of developing bronchiectasis, chronic aspiration due to dysphagia from neurodegenerative disease, and interstitial lung disease (ILD) with pulmonary fibrosis. ILD is a known but rare complication of AT. The co-occurrence of other pulmonary diseases and radiosensitivity inherent in this population makes diagnosis challenging. Here, we present a case of an 11-year-old male with AT and immunodeficiency (on monthly intravenous immunoglobulin) with a protracted and complicated clinical course, as well as approaches taken to slow disease progression after the diagnosis of ILD was made. Our patient was unable to cooperate with pulmonary function testing, increasing the difficulty of monitoring his respiratory status. He had multiple admissions for respiratory exacerbations that started at age 7 years related to sinopulmonary disease with suspected bronchiectasis, and colonization with Pseudomonas aeruginosa. A concern for pulmonary aspiration and malnutrition led to gastrostomy tube placement at age 9. His pulmonary decline became more pronounced at age 9, with two back-to-back illnesses requiring PICU admission for respiratory support. At age 10 years, he was admitted to the PICU with hypoxemic respiratory failure requiring intubation. His clinical course was complicated by a persistent left-sided pneumothorax and bronchopleural fistula, requiring two chest tubes and a blood patch for management. A CT chest was obtained at the time, which demonstrated patchy ground-glass opacities in the right lung, with areas of subpleural reticulation, and bronchiectasis in the right middle lobe. His clinical deterioration, persistent pneumothorax, and the severity of lung disease on imaging were concerning for interstitial lung disease. He was started on pulse steroids (15 mg/kg, for 3 days), which initially stabilized his disease, and he was able to discharge home on heated high-flow canula with supplemental oxygen support. Nevertheless, after 9 months of pulse steroid therapy, his respiratory status again deteriorated, and he was readmitted for acute on chronic hypoxemic and hypercapnic respiratory failure to the PICU with a pCO2 of 99.6 mmHg on blood gas on presentation. Pirfenidone (267 mg, three times a day) was started with the goal of slowing disease progression. Unfortunately, our patient continued to clinically deteriorate and died from cardiac arrest due to hypoxemic respiratory failure. Pulmonary complications are a common cause of morbidity and mortality in AT; additional research is needed to determine a timeline for screening in order to identify ILD earlier in the course and expand options for treatment. This abstract is funded by: None
Karandashova et al. (Fri,) studied this question.