SPCT-03 THORACIC SCHWANNOMA WITH NOONAN SYNDROME: CASE REPORT AND LITERATURE REVIEW

Abstract

Abstract Background NOONAN syndrome (NS) is a very rare autosomal dominant genetic disorder, with an incidence of 1/2,000 births, characterized by a polymalformative syndrome with prominent facial dysmorphia, congenital heart disease and short stature, associated with psychomotor retardation and tumor predisposition. In recent years, numerous studies have described the association of NS with Neurofibromatosis type 1 (NF1) as a clinical entity known as Neurofibromatosis-NOONAN syndrome (NFNS). The disease results in several tumors of the nervous system. We present a rare case of thoracic schwannoma associated with this syndrome. Case Description A 27-year-old male followed for NS, was admitted in our department, complaining of chronic back pain radiating into thoracic supra umbilical hemi-belt associated with paresthesias for 2 years. Clinically, he had intercostal neuralgia with a dorsal spinal syndrome. A spinal cord Magnetic Resonance Imaging (MRI) showed a paravertebral mass of D8, on the right with regular, well-limited contours, exerting anterior scalloping on the pleura, laterally invading the posterior arch and medially enlarging the foramen with the onset of intracanal extension, creating an hourglass appearance. With the thoracic surgery team, he underwent posterolateral thoracotomy of the 8th intercostal space, overlooking the costovertebral joint, for a one-piece removal tumor with no dural attachment. Preceded by tumor dissection using bipolar cautery, until the root of the 8th intercostal nerve was identified below, its efferent part lateral to the tumor, the dura mater medially and the afferent part ventrally. The nerve was then ligated. Histological appearance and immunohistochemical profile were consistent with schwannoma. Postoperative course was favorable, with regression of his intercostal neuralgia. Conclusion The occurrence of a schwannoma in a patient with NOONAN syndrome is exceptional and very rarely described. However, the NFNS entity could explain this by the predisposition of patients with Neurofibromatosis to develop benign schwannoma-like tumors.