Extremely viscous stool in a newborn leading to an early diagnosis of a life-long disease

Abstract

© BMJ Publishing Group Limited 2021. No commercial reuse. See rights and permissions. Published by BMJ. DESCRIPTION A female infant, born at 37+3 gestational weeks after an uncomplicated pregnancy, was referred to level III neonatal intensive care unit at the age of 24 hours due to a suspected bowel obstruction, with a history of not having passed meconium and some nonbilious emesis. Physical examination showed considerable abdominal distension with visible bowel loops. Abdominal Xray identified dilated bowel loops, with no evidence of perforation (figure 1). Explorative laparotomy revealed significantly dilated loops of the ileum, with otherwise normal anatomy. The distal ileum was packed with extremely thick and sticky meconium, which could barely be removed through an enterotomy (figure 2, video 1). The bowel was emptied by milking and irrigation with saline, after which an ileostomy was performed. Meconium ileus and viscous meconium were suggestive of cystic fibrosis. Laboratory tests revealed a low faecal elastase level (<15 μg/L) and a high chloride level (133 mmol/L) in a sweat test. Two