Plexiform neurofibromatosis of the lower back: A rare case report

INTRODUCTION: Plexiform neurofibromatosis is a relatively rare manifestation of Type 1 neurofibromatosis (NF-1). This condition leads to gross disfiguration along with functional disability. We are presenting a case of 49 year male with Plexiform neurofibromatosis of lower back. The aim of this rare case report is also to discuss the management difficulties encountered. PRESENTATION OF CASE: A 49 year male presented to us with gradually increasing swelling over the lower back which was present since his 10 years of age. He had already undergone debulking surgery for the same swelling 10 years back. For the last 2 years the swelling had increased in significant amount. He gave history of similar swellings in his father and grandfather. Proper examination revealed multiple café au lait macules, giant plexiform neurofibroma over lower back and multiple nodular swellings all over the body (neuroma). Biopsy report from previous surgery showed neurofibroma. He underwent debulking surgery. The procedure went for 12 h continuous. Intraoperatively, the mass was highly vascular and excessive bleeding was encountered. About 3 L of blood loss was there and patient received 12 units of blood products. DISCUSSION: Plexiform neurofibromas are uncommon and may occur in around 30 % patients with NF-1. The genetic defect lies in chromosome 17 that encodes a protein neurofibromin. It causes disfiguration and severe distress to patients. Debulking surgery is one of the treatments to decrease the difficulties occurred from the mass. The aim of this report is to discuss the difficulties occurred in surgical intervention of this rare condition like excessive blood loss. CONCLUSION: Although timely intervention could limit the disfigurement and morbidity associated with large lesion, due to unpredictable natural course and growth pattern, it is difficult to decide best time to intervene surgically. Registration of such rare case facilitates patient monitoring and development of appropriate treatment protocols.