Escrever uma avaliação PREreview

Abstract: Introduction: Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder caused by mutations in the NF-1 gene located on chromosome 17q11.2, characterized by cutaneous, skeletal, and neurological manifestations. Gastrointestinal manifestations are uncommon, with mesenteric involvement being particularly rare. Case presentation: A 15-year-old male presenting with abdominal pain and features of bowel obstruction on Physical examination. Further imaging with CECT of abdomen revealed ill-defined, soft tissue mass involving the mesentery of the right lumbar and right iliac region, associated with focal dilatation of distal ileal loops. Mesentery lesions were discovered involving the ileum during surgery, involved mesentery is fully removed. Discussion: Neurofibromatosis type 1 (NF-1) is a genetic disorder with rare gastrointestinal involvement, particularly in the mesentery. Mesenteric neurofibromatosis is often asymptomatic but may cause obstruction or mimic malignancy. Imaging aids diagnosis, whilw histopathology confirms it. Complete surgical excision is ideal, but follow-up is essential due to the risk of malignant transformation. Conclusion: Early diagnosis of mesenteric neurofibromatosis enables surgical removal; otherwise, regular clinical and radiological monitoring is essential for malignancy risk.