Cystic fibrosis in a child with situs inversus, a distinctively unusual association

Cystic fibrosis is the most frequently witnessed potentially lethal autosomal recessive, genetic disease but its incidence is extremely low in South-Asian population. We report a case Cystic Fibrosis in a patient with Situs inversus, a condition not witnessed in medical literature of Pakistan or more captivatingly even Asia. The patient was a three and half years old male child presenting with a history of fever, cough and jaundice. Physical examination lead to the initial diagnosis of situs inversus, which was confirmed by the chest radiograph, echocardiography and ultrasound of abdomen. Further evaluations were conducted to establish the cause of respiratory symptoms. The findings of pansinusitis as evidenced by the radiography and an exceedingly high sweat chloride concentration of 100 mmol/L resulted in the conclusive diagnosis of Cystic Fibrosis.