Jejunal Atresia With a Rare Association: A Case Report and Literature Review.

Jejunoileal atresia, a common cause of neonatal intestinal obstruction, typically manifests shortly after birth. This case report highlights a rare instance of a late preterm female neonate presenting with type 4 jejunoileal atresia along with proximal rectal atresia, an exceedingly uncommon combination. Initial symptoms included bilious emesis and failure to pass meconium, leading to surgical correction of jejunoileal atresia. However, postoperative complications, including vomiting and jaundice, prompted further investigation, revealing rectal atresia during a fluoroscopic study on day 29. Subsequent surgery was required to address the rectal atresia, resulting in additional challenges such as short bowel syndrome and infection. The complexity of diagnosis and management underscores the importance of thorough evaluation of the lower gastrointestinal tract in neonates with jejunoileal atresia to prevent misdiagnosis and reduce the need for multiple surgeries. Rectal atresia, which is a very rare anorectal abnormality, in combination with jejunoileal atresia is considered an incredibly unusual, exceptionally unique case; as to our knowledge, no similar presentation had previously occurred. Prompt identification and simultaneous treatment of both conditions can help mitigate complications, minimize the risk of necrosis and perforation, and improve overall outcomes. Comprehensive management strategies that encompass thorough diagnostic evaluation and coordinated surgical interventions are crucial for optimizing the care of neonates with complex intestinal malformations, ensuring timely resolution of symptoms, and reducing long-term morbidity.

Very Early Onset of Fistulizing Inflammatory Bowel Disease With RIPK1 Mutation: A Case Report.

Infantile inflammatory bowel disease (IBD) is a very rare subgroup of IBD that develops in children younger than two years with genetic susceptibility, especially in those with monogenic defects. This type, when compared with IBD in older children, is more resistant to conventional medical treatment and presents with more complications that require more surgical interventions. Our patient is a male with first-degree consanguineous parents. He was 16 months old when he presented with multiple perianal fistulas, fissures, abscesses, diarrhea, fever, and failure to thrive. He underwent a protective double-barrel ileostomy and surgical repair of the perianal disease. Crohn's disease was confirmed after endoscopy and biopsy. A genetic workup was done and revealed receptor-interacting protein kinase 1 (RIPK1) mutations. Conventional pediatric IBD treatment was initiated after surgery, including tumor necrosis factor antagonist adalimumab 40 mg subcutaneously weekly for five months. Despite treatment, he presented with dysuria and a colovesical fistula. The patient underwent secondary surgical repair.