Published online Jun 28, 2014. doi: 10.3748/wjg.v20.i24.7979
Revised: February 9, 2014
Accepted: March 19, 2014
Published online: June 28, 2014
Processing time: 191 Days and 9.4 Hours
We report the case of a 25-year-old male with Neurofibromatosis type I (NF-1), who presented at the time of admission with clinical findings of an acute abdomen caused by a mechanical obstruction. Computerized tomography showed a volvulus of the terminal ileum with mesenteric swirling as the cause of the patient’s symptoms. Consecutive exploratory laparotomy confirmed the diagnosis and 70 cm of the small intestine was resected due to an affection of the mesentery by multiple neurofibromas. The gastrointestinal tract is affected in approximately 10% of patients with NF-1, however the mesentery is almost always spared. Here we describe the unique case of a patient with a volvulus caused by mesenteric manifestation of von Recklinghausen’s disease, emphasizing the role of surgery in a team of multidisciplinary specialists to treat this multiorganic disease.
Core tip: Neurofibromatosis type I (NF-1) is one of the most common single gene disorders known for its phenotypical presentation with café au lait macules and neurofibromas. Although every organ system can be involved, the intra-abdominal manifestation is rare. To the best of our knowledge, this is the first reported case of a patient with mesenteric involvement of NF-1 manifesting as a volvulus, underscoring the role of surgery in this heterogeneous disease.