Partial midgut agenesis in a premature neonate: A case report and literature review of small bowel agenesis

Introduction and importance: Small bowel agenesis (SBA) is a rare congenital abnormality characterized by the absence of part or all of the small intestine, leading to significant disruptions in nutrient absorption. While hereditary factors are suspected to contribute, the precise etiology of SBA remains largely unknown. Prenatal ultrasonography is typically used for diagnosis, but postnatal diagnosis can be based on clinical signs such as vomiting, abdominal distension, and poor growth. Surgical intervention is often necessary for management, yet the long-term prognosis varies depending on the extent of the agenesis and the presence of associated anomalies. Case presentation: We report a case of a premature neonate born at 32 weeks of gestational age, initially diagnosed with jejunal atresia. Intraoperative findings later revealed partial midgut agenesis, presenting a unique case not previously documented in existing literature. Despite surgical intervention, the patient's condition deteriorated rapidly. Clinical discussion: This case highlights the challenges in diagnosing and managing SBA, particularly when initial diagnoses such as jejunal atresia are complicated by more extensive midgut agenesis. The rarity and variability of SBA presentations necessitate a high index of suspicion and comprehensive intraoperative evaluation to accurately diagnose and manage such cases. Conclusion: Despite surgical intervention, the patient's condition worsened, leading to their passing within a week and a half. This case underscores the critical need for early and accurate diagnosis, as well as the challenges in managing SBA, with outcomes heavily dependent on the extent of intestinal involvement and associated anomalies.