Rare Form of Congenital Cystic Bronchiectasis in a Filipino Adult

Abstract

Background: Tuberculosis remains to be the most common lung infection in the Philippines. Compliance to medication leads to significant improvement. A portion of the population however remains untreated leading to complication such as bronchiectasis. In the approach to treatment, etiologies such as a possible genetic abnormality must be considered aside from a post inciting event. Case: This is a case of D.A. 20 year old, female who came in due to difficulty of breathing. She grew up having recurrent upper and lower respiratory tract infection. She was previously treated with pulmonary tuberculosis for 6 months last 2011. She was initially admitted at the COVID wards during the surge because any patient with pulmonary complains with bilateral infiltrates will be tagged as COVID suspect until a negative RT PCR result becomes available. She was admitted with complains of difficulty of breathing with desaturation. Her body mass index is 12.8 which is underweight. Pertinent physical examination shows bilateral coarse crackles with clubbing which suggest a chronic disease. Complete work up was done. Echocardiography which revealed an ejection fraction of 74%, severe pulmonary hypertension with dilated right atrium and right ventricle. Chest radiography revealed bronchiectatic changes with infiltrates while a confirmatory chest computed tomography scan revealed post infection pulmonary fibrosis with cystic bronchiectasis both lung fields. Spirometry revealed a severe obstructive ventilatory defect with no response to bronchodilator and a probable restrictive ventilatory defect which explains why the patient had higher frequency of admissions. Paranasal sinus xray to rule out Kartagener's syndrome was done which revealed normal results. Microbiologic studies such as sputum TB culture and sputum gene xpert was negative. The sputum culture revealed Stenotrophomonas maltophilia which was treated with intravenous antibiotics. To rule out other possible differentials for the cystic bronchiectasis, karyotyping was facilitated which revealed a normal female karyotype (46 XX). She was managed as a case of cor pulmonale, post tuberculous bronchiectasis, bacterial pneumonia, with considerations of mucociliary defects such as cystic fibrosis. It was unfortunate that a sweat chloride test was not done as it was not available in the country. Conclusion: In a country with endemic infectious pulmonary diseases such as tuberculosis, there is an anticipated sequelae of post infection bronchiectasis and fibrosis. Even if resources are scare and diagnostic tests are limited, repeated lung infection in a young patient warrants further investigation as congenital causes of structural lung diseases may initially present as an infectious process. (Figure Presented).