Plexiform Neurofibroma in the Retropharyngeal Space

Abstract

Introduction: Neurofibromatosis type 1 NF1 is an autosomal dominant genetic syndrome resulting from a mutation of the NF1 tumor suppressor gene. Its clinical presentation is characterized by neurofibromas on the skin, associated with café-au-lait spots that can appear from birth.

Objective: To present a clinical case with plexiform Neurofibroma in the retropharyngeal space.

Clinical case: A 3-year-old male patient with a history of neurofibromatosis type 1 with clinical manifestation given by plexiform neuroma with involvement in the nasopharynx and oropharynx. In addition, a mobile hard mass was palpated, not adhered to deep planes in the V cervical space on the right side, approximately 4 cm. It is diagnosed by biopsy, and due to its unfavorable location, management with selumetinib is considered, showing response in terms of tumor size reduction, in a short-term follow-up.

Conclusions: In neurofibromatosis type 1 (NF1), the treatment options are varied, including surgical management, and in those who are not viable due to their unfavorable location, the use of mitogenic activation protein kinase inhibitors can be considered, suggesting the need for close follow-up due to the possibility of recurrence.