Endocrine Abstracts

JOINT2408

Introduction: Neurofibromatosis 2 (NF2) is a dominantly inherited tumor predisposition syndrome caused by mutations in the NF2 gene on chromosome 22, with a family history. Affected individuals inevitably develop schwannomas typically affecting both vestibular nerves leading to deafness. Schwannomas also occur on other cranial nerves, on spinal nerve roots, and on peripheral nerves. Meningiomas and ependymomas are other tumor features. Our objective is to report a rare case of a bilateral vestibular schwannoma associated with neurofibromatosis type 2.

Case Report: The patient was a 38-year-old male with no previous pathological family history of note. He presented with bilateral deafness for 5 years associated with tinnitus without neurological signs. The ENT examination was normal. Audiometric examinations and the Brainstem Evoked Response (BER) test showed right cophosis and sensorineural deafness at 70 dB on the left side. The patient was diagnosed on Magnetic Resonance Imaging (MRI) with a bilateral vestibular schwannoma measuring 14x10 mm on the right side grade 2 and 22x15 mm on the left side grade 3, filling the pontocerebellar cisterns and presenting an intrameatal extension, associated with six extra-axial expansive processes corresponding to supratentorial neurofibromas. A genetic investigation was performed and the diagnosis of neurofibromatosis type 2 was made. The patient was proposed for Gamma Knife radiosurgery.

Discussion/Conclusion: The NF2 is a rare disease characterized by bilateral acoustic neuromas or central nervous system tumors. This syndrome should be known because it can cause rare endocrine manifestations linked to hormonal disorders or tumors that affect the endocrine glands. NF2 represents a difficult management problem. Surgery remains the focus of current management, although watchful waiting and occasionally radiation treatment have a role. In the future, the development of tailored drug therapies aimed at the genetic level are likely to provide huge improvements for this devastating, life limiting condition.

Disclosure of interest: none declared

Key-words: Neurofibromatosis 2, Bilateral, Vestibular schwannoma, Magnetic Resonance Imaging