Distal intestinal obstruction syndrome as a presenting manifestation of cystic fibrosis in an infant

Abstract

Cystic fibrosis (CF) is a rare autosomal recessive multisystem disorder. The classical presentation of CF is recurrent pneumonia, pancreatic insufficiency, and failure to thrive. We reported a 12-month-old infant who presented with abdominal distension, constipation, and vomiting for 10 days. On examination, the abdomen was distended, a mass was felt in the right lower quadrant, and bowel sounds were sluggish. There was a history of recurrent pneumonia and the passing of bulky and oily stool. Based on history and clinical findings, a working diagnosis of CF with distal intestinal obstruction syndrome (DIOS) was kept. She was started on medical therapy and responded well. On subsequent investigation, a diagnosis of CF was confirmed. In conclusion, a high index of suspicion of DIOS should be kept in a child with suspected CF, as medical management can be life-saving and avoid surgical intervention.