DOI: 10.36347/sjmcr.2023.v11i08.027

Pages: 1537-1541

Objective: To report a case of a preterm infant with meconium ileus at birth and cystic fibrosis. Background: The meconium ileus corresponds to the obstruction of the terminal ileum by an abnormally thick meconium; it is observed most often in neonates with cystic fibrosis. Case description: a female infant was born by cesarean delivery section on severe pre-eclampsia with oligohydramnios and intrauterine growth restriction, weighing 1230 g at 36 weeks of gestational age, with Apgar scores of 10/10. His mother was a 26-year-old G2P2 who had attended three prenatal consultations with negative serology for vertical infections. Immediately after birth, the newborn was referred to our neonatal critical care unit due to severe abdominal distension. the Newborn had a delay in meconium emission of more than 48 hours. an abdominal X-ray showed significant intestinal distension and a barium enema was performed showing meconium plugs with a colon of normal topography and caliber, initially put on antibiotic therapy with enema by gastroraphy twice a day, an etiological assessment was carried: A genetic study was conducted, revealing that the newborn is a carrier of a variant (c.1521-1523delCTT,p.Phe508del F50 del) associated with a classic form of cystic fibrosis in a homozygous state and the first immunoreactive trypsinogen (IRT) was > 1300 ug/l (reference value >1000 ug/l), in view of the non-improvement the newborn benefited from an ileostomy. Comments: This case illustrates the rapid evolution of CF in a premature patient with meconium ileus as the first clinical manifestation.