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

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 non-bilious emesis. Physical examination showed considerable abdominal distension with visible bowel loops. Abdominal X-ray identified dilated bowel loops, with no evidence of perforation.