Late Presentation of Giant Intrathoracic Neurofibroma with Significant Mediastinal Shift: A Case Report and Review of the Literature

Intrathoracic tumours in patients with Von Recklinghausen’s disease have been widely reported, but there are very few cases of reported intrathoracic giant benign neurofibroma with marked mediastinal shift and superior vena cava syndrome. Patients that present with this pathology should be adequately investigated. Surgical resection has been considered curative. 1. Introduction Patients with neurofibromatosis type I (Von Recklinghausen’s disease) are prone to developing benign and malignant tumours of the thorax in addition to its cutaneous, orthopedic, and neurologic manifestations. Benign intrathoracic nerve sheath tumours include neurofibroma, schwannomas, and ganglioneuroma arising either de novo or from transformation of neurofibroma [1]. Neurofibromas involving the vagus nerve [2, 3], recurrent laryngeal nerve [4], and phrenic nerve [5] have all been reported. A rapidly growing benign intrathoracic tumour arising from the sympathetic trunk after lobectomy has been reported [6]. However, only very few cases of giant intrathoracic neurofibroma with mediastinal shift or superior vena cava syndrome have been reported [7–9]. 2. Case Report A 23-year-old student presented to us with left side chest pain of 16 months duration and bulging left anterior chest wall of 6 months duration. General examination revealed multiple cutaneous neurofibroma and café-au-lait spots (Figure 1). Chest examination revealed a bulging left anterior chest wall and thoracic kyphoscoliosis. Trachea was deviated to the right, and apex beat was located at the 5th right intercostal space, midclavicular line. The entire anterior chest wall was dull to percussion, and breath sounds were absent. Neck veins were distended with facial and left upper limb oedema. Figure 1: Multiple cutaneous neurofibroma and café-au-lait spots (circled in red). Chest radiograph revealed homogenous opacification of the entire left hemithorax with marked mediastinal shift to the right (Figure 2). Figure 2: Chest radiograph showing homogenous opacification of the entire left hemithorax with marked mediastinal shift to the right. Chest CT scan revealed nonenhancing mass, isodense to surrounding muscle completely occupying the entire left hemithorax (Figure 3). Incisional biopsy was taken via left minithoracotomy. Macroscopy revealed whitish tissue that was soft in consistency. Microscopy revealed an unencapsulated benign neoplastic lesion composed of nodules of interwoven fibromyxoid connective tissue stroma. Features were in keeping with neurofibroma with no evidence of malignancy. Figure 3: Chest CT scan