DOI: 10.36347/sjmcr.2017.v05i06.002

Pages: 359-363

Neurofibromatosis type I is a hamartomatous disorder with CNS, orbital, musculoskeletal, pulmonary and cutaneous manifestations. Neurofibromas are of three types – localised, diffuse and plexiform. Plexiform neurofibromas (PNF) are exclusively associated with NF1. Plexiform neurofibroma (PNF) grows along nerve roots from the main nerve root to a small distal branch. It is of two main types – internal tumour and superficial tumour. Internal PNF usually extends through multiple tissue planes and usually are not completely resectable. The risk of malignant progression is high in internal PNF. We report a case of 25-year-old female patient with NFM1 presenting with a lump in abdomen on the left side of the midline for past 1 month. Ultrasound revealed a well-defined mass in the retroperitoneum on left side along the course of genitofemoral nerve with cystic degeneration and haemorrhage in the central portion. These findings were confirmed on Computed tomography (CT) and Magnetic resonance imaging (MRI) of abdomen and pelvis and on histopathology. The unique feature of our case is a neurofibroma arising from genitofemoral nerve which is extremely rare.