Multiple Cranial Nerve Involvement in a Complex Case of MISME Syndrome in a Paediatric Patient: A Case Report

Abstract

Neurofibromatosis 2 (NF2) is characterised by numerous tumours in the central and peripheral nervous systems due to NF2 gene abnormalities that cause the tumour suppressor protein, Merlin, to disappear. Often referred to as Multiple Inherited Schwannomas, Meningiomas, and Ependymomas (MISME), a distinctive characteristic of NF2 is bilateral vestibular schwannomas manifesting in late adolescence with symptoms such as sensorineural hearing loss, tinnitus, and balance issues. Two distinct phenotypes, Wishart and Feiling-Gardner, characterise NF2. This case report discusses the case of a paediatric patient who presented with bilateral hearing loss, giddiness, and blurring of vision and sought a Magnetic Resonance Imaging (MRI) examination which revealed bilateral vestibular schwannomas, non vestibular schwannomas, left sphenoid wing meningiomas, multidirectional spinal schwannomas, spinal nerve sheath tumours, and lesions in the retroperitoneal region. Despite an absent family history, significant involvement of cranial nerves strongly indicates classical NF2. Management focuses on preserving function, and surgery is contemplated for symptomatic lesions and tumours causing cord compression. Gamma Knife radiosurgery and targeted therapies have been investigated.