Neurofibromas of the Phrenic Nerve: A Case Report and Review of the Literature

Abstract

Background: Phrenic neurofibromas are a rare pathologic entity, with 9 cases described in the English literature. They may occur in conjunction with or independently of neurofibromatosis type 1. Phrenic neurofibromas pose distinct therapeutic challenges compared with the more common phrenic schwannoma. We describe here a 12-year-old boy with neurofibroma of the left phrenic nerve presenting as dextroposition of the heart after paralysis of the left hemidiaphragm allowed herniation of abdominal contents into the left hemithorax and displaced the heart.

Method: Surgical resection of the tumor followed by diaphragmatic plication was performed to assess its degree of malignancy, reduce abdominal herniation, and improve lung capacity.

Results: The operation markedly improved his hemidiaphragmatic elevation.

Conclusions: The spectrum of management options ranges from conservative surveillance to open thoracic surgery. Functional preservation of the phrenic nerve is technically challenging, and although phrenic neurofibromas often present with absent function that cannot be recovered, surgical intervention can be fruitful in restoring lung capacity through diaphragmatic reconstruction.

Keywords: Diaphragmatic paralysis; NF1; Neurofibroma; Neurofibromatosis; Phrenic nerve.