Pulmonary tuberculosis in a case of Rubinstein–Taybi syndrome

Abstract

Rubinstein–Taybi syndrome is a rare genetic disease characterized by mental deficiency, broad thumbs and toes, short stature, and characteristic facial features. The syndrome has been linked to microdeletion at 16p13.3 encoding CREB-binding protein gene (CREBBP). Most reported cases of Rubinstein–Taybi syndrome are sporadic, with no firm evidence of Mendelian inheritance. We report a case of a 26-year-old male patient of Rubinstein–Taybi syndrome with pulmonary tuberculosis. The occurrence of respiratory infections in patients with this syndrome has been mentioned in the past. Systemic problems involving the respiratory system, feeding and the cardiovascular system have been noted in some individuals with this rare syndrome.