Atypical Intestinal Lesions in a Patient with Neurofibromatosis Type 1: A Case Report
DOI:
https://doi.org/10.22516/25007440.1114Keywords:
Neurofibromatosis, Neurofibroma, Gastrointestinal stromal tumor, Atypical intestinal lesionsAbstract
Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder that can manifest as multiple tumors or plexiform lesions in the gastrointestinal tract and extraintestinal sites. Gastrointestinal involvement occurs in 10%–25% of patients, with neurofibromas being the most common lesions, typically located in the small intestine. When multiple tumors are found in the small intestine, they are often gastrointestinal stromal tumors (GISTs). This case report presents a 55-year-old woman with a history of NF1, characterized by neurofibromas and café-au-lait spots across her body. She was evaluated as an outpatient in the endoscopy unit at Unión de Cirujanos S. A. S. in Manizales, Colombia, within the Gastroenterology Surgical Clinic Service at Universidad de Caldas. The patient underwent ileocolonoscopy after a positive fecal occult blood test. She denied abdominal pain, hematochezia, rectal bleeding, or melena. Ileocolonoscopy revealed nodular lesions ranging from 3 to 5 mm in the distal ileum. Endoscopic resection was performed on one lesion, which was sent for histopathological examination.
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