Neurofibromatosis with diffuse intestinal ganglioneuromatosis: a case report

Neurofibromatosis type 1 (NF-1), a rare autosomal dominant disorder, arises from NF1 gene mutations affecting neurofibromin, a Ras GTPase regulator. These mutations activate Ras proteins, triggering clinical symptoms such as skin spots, epilepsy, pain, and tumors. Although gastrointestinal stromal tumors are well-known in NF-1, diffuse intestinal ganglioneuromatosis remains an extremely rare complication.

This paper reports a case of a 23-year-old male patient with NF1 who underwent a right hemicolectomy due to a cecal mass. Pathological findings were consistent with diffuse intestinal ganglioneuromatosis. Eight months after the surgery, the patient underwent an amputation due to the progressive enlargement of a tumor in his right lower limb, which had been present for 20 years. Pathological results confirmed NF1. Due to the high likelihood of tumor recurrence if only the mass in the right lower limb were to be resected, a surgery involving the amputation of the right lower limb along with the tumor removal was ultimately performed, followed by the installation of a prosthesis postoperatively. To date, the tumor has not recurred. However, due to psychological or skeletal developmental issues, the patient has not regained the ability to walk.

This case represents a rare occurrence of neurofibromatosis accompanied by diffuse intestinal ganglioneuromatosis. The discovery and reporting of this rare case enhance the clinical understanding of neurofibromatosis (particularly in terms of uncommon complications) and enrich the clinical spectrum of neurofibromatosis and its complications, offering new insights and approaches for future treatment of similar cases.