Íleo meconial como primeira manifestação de fibrose cística na infância - relato de caso

Abstract

Introduction: Meconium ileus (MI) is an intestinal obstruction caused by thick meconium and represents a classic manifestation of cystic fibrosis (CF) in the neonatal period. CF is a genetic disease resulting from mutations in the CFTR gene, leading to thick secretions and multisystem involvement. The identification of MI requires investigation and exclusion of CF, enabling early diagnosis, appropriate management, and improved quality of life. Objectives: To report a case of MI as the first manifestation of CF, describing the initial clinical signs, the diagnostic process, and the clinical course over the first two years of life. Methods: This is a case report approved by the Human Research Ethics Committee of the Federal University of Uberlândia (UFU), with data obtained from electronic medical records following informed consent. A patient with MI as the initial manifestation of CF was included. Results: A female patient born by cesarean section, Apgar scores 8/9, birth weight 2.590 g, and gestational age of 36 weeks and 5 days, presented with delayed meconium passage, vomiting, and abdominal distension. She underwent laparotomy with ileostomy on the third day of life. Pancreatic enzyme replacement therapy was initiated. Newborn screening showed elevated immunoreactive trypsinogen (IRT), and CF was confirmed by genetic testing and reduced fecal elastase. The patient exhibited poor weight gain and neuropsychomotor developmental (NPDM) delay during the first year of life. An attempt at intestinal reconstruction (IR) at 6 months was unsuccessful. After dietary and enzyme dose adjustments, nutritional status improved, and definitive IR was successfully performed at 2 years of age following multidisciplinary discussion. The patient remains clinically stable. Discussion: The presence of MI mandates investigation for CF, beginning with newborn screening. When sweat chloride testing is not feasible, genetic testing represents an effective alternative diagnostic approach. Strict nutritional monitoring, with regular adjustments in dietary intake and enzyme dosages, is essential to ensure adequate growth and NPDM. The timing of IR requires a multidisciplinary approach, with nutritional status as a key prognostic factor. Conclusion: MI is a severe and frequent manifestation of CF and exclusion of this diagnosis is essential for appropriate patient management. The diagnosis and management of MI associated with CF remain a challenge in pediatric practice.