Cystic fibrosis (CF) is a multisystem disorder that occurs as a result of autosomal recessive congenital transmission of CF transmembrane conductance regulator (CFTR) gene mutation on chromosome 7. Because it is considered a disease of the Caucasian pediatric population or due to lack of awareness, it is rarely considered in developing countries like ours. This case report presents the first case of cystic fibrosis ever reported in Ethiopia and possibly East Africa, that of a 17-year-old female diagnosed with the disease following a CT scan of her abdomen and chest. She was initially misdiagnosed and treated for tuberculosis (TB) as she was a chronic cougher. Perhaps due to epidemiological evidence, there is an obstinate tendency of blaming tuberculosis (TB) for almost every case of chronic cough with fibro-bronchiectatic lung parenchymal changes in Ethiopia. Once a diagnosis of TB is posted on such patients, their diagnosis remains in the circle of TB reinfection, relapse or resistance, followed by multiple phases of anti-mycobacterial drugs. This could lead to hazardous implications, including unnecessary prolonged anti-mycobacterial treatments, possibility of developing drug resistance, and mismanagement-related patient morbidity. This patient's chest and abdominal CT findings, including bronchiectasis, hepatic steatosis, pancreatic lipomatosis, micro-gallbladder and proximal colonic wall thickening, led to the diagnosis of CF. This article, presenting the first documented case of CF in the region, is meant to be a helpful reminder for clinicians and radiologists to also consider presumably "rare" illnesses like CF rather than blaming TB for every chronic cough and highlights the importance of abdominal CT features in the diagnosis of CF.
Keywords: CFTR; Ethiopia; bronchiectasis; colonic wall thickening; cystic fibrosis; hepatic steatosis; micro-gallbladder; pancreatic lipomatosis.
© 2024 Adela et al.