Neurofibroma Cholecystitis, a Rare Manifestation in Neurofibromatosis Type 1: A Case Report

Introduction/Purpose: Neurofibromatosis Type 1 (NFT-1) is one of the most common inherited disorders. It is due to spontaneous genetic mutations of the NF-1 gene coding for the tumor suppressor gene Neurofibromin. The incidence and prevalence of NFT-1 is among the highest for an inherited disorder with nearly 100% penetrance. Patients with NFT-1 have a higher rate of morbidity and mortality due to the development of malignancies and complications as compared to the general population.

Methods or Case Description: Our patient presented with gastrointestinal manifestations relating to NFT-1, which is an exceedingly rare occurrence. A cholecystectomy was performed for his clinically deteriorating hepatobiliary pathology secondary to a neurofibroma tumor not seen on preoperative imaging.

Outcomes: Gastrointestinal manifestations are rare, and as a result are nearly always undiagnosed. They are usually discovered only after causing severe life-threatening symptoms such as obstructive or hemorrhage which requires emergent intervention. GI tumors in NFT-1 are usually found once they are large, obstructive, or causing bleeding which by definition leads to difficulty in treatment and subsequently high morbidity and mortality rates.

Conclusion: Advanced imaging of NFT-1 patients may increase detection and aid in appropriate early treatment, of patients with occult gastrointestinal neoplasms. Currently there is a clear lack of standardized screening and treatment algorithms which might otherwise allow for the more proactive identification and surgical treatment of the intra-abdominal tumors associated with patients with NFT-1. In the interim physicians should maintain a high index of clinical suspicion, in both monitoring and treating these complex patients. More study is needed to decrease the associated morbidity and mortality in this group of patients, especially in light of the fact that the median survival from this disease is only age 31.