Mosaic Neurofibromatosis Type 2 with Subdural Hematoma and Hydrocephalus: What Therapeutic Strategy?

ATROUNE L., SELLAMI A., DJOUADI Y., SAADEDDINE C., HACHID A., BENIDER M. ,DJAAFER M.
Neurosurgery Department Mustapha Pacha – Algiers-Algeria
*Corresponding Author: : ATROUNE L.,Neurosurgery Department , Mustapha Pacha University Hospital, Algiers, Algeria
Content
Abstract:
Neurofibromatosis type 2 (NF2) is a rare autosomal dominant genetic disease with a birth incidence of 1 in 25,000. Nearly ¾ of the NF2 gene mutations are sporadic, affecting the Merlin protein on chromosome 22q. Hence, the disease is a tumor suppressor gene on chromosome 22q, encoding Merlin protein.
We report the case of a 63-year-old man who was diagnosed with spastic tetraparesis over six months. The patient had anterior cervical meningioma, calcified right anterolateral meningioma of the foramen magnum, posterior meningioma, schwannoma of the posterior root of C7, and multiple schwannomas of the cauda equina. The diagnosis is based on the Manchester criteria (1992), which include bilateral vestibular schwannomas, first-degree relatives with NF2 and unilateral vs., first-degree relatives with NF2 OR unilateral VS AND two of the following: meningioma, cataract, glioma (intramedullary ependymoma), schwannoma, or multiple meningioma (2 or more). The patient underwent total surgical excision of the cervical meningioma, and regular MRI monitoring allowed for assessment of the lesions' evolution.
Keywords: neurofibromatosis type 2, vestibular schwannomas, meningioma
Introduction :
Neurofibromatosis type 2 (NF2) is a rare autosomal dominant genetic disease with an incidence at birth of around 1 in 25,000. However, nearly ¾ of the mutations in the NF2 gene responsible for the disease are sporadic. . NF2 is a tumor suppressor gene located on chromosome 22q encoding Merlin protein
To make a diagnosis of NF2, a patient must meet one of the following criteria: 1. Bilateral vestibular schwannomas (VS) 2. A first-degree relative with NF2 AND unilateral VS. 3. First- degree relative with NF2 OR unilateral VS AND two of the following: meningioma, cataract, glioma (intramedullary ependymoma), schwannoma. 4. Multiple meningioma (2 or more) AND two of: unilateral VS, cataract, glioma (intramedullary ependymoma) schwannoma(1,3).
The severity score is genetic. Patients with a severe genetic score are affected at a younger age with a large number of tumors requiring a statistically higher number of interventions than patients with average or mild scores (severe score: complete truncation of the NF2 gene between lesions 2, 13, not severe: mosaic or splice-site mutation exon 8 to 15 or large deletions(2).
The prognosis is functional, particularly hearing, and in severe forms the prognosis may be serious. The improvement of surgical and radiotherapy techniques and the appearance of new drugs are revolutionizing the management of this disease.
Observation :
We report the case of a 63-year-old man, received for spastic tetraparesis of progressive onset over 06 months with headaches for 01 month, neck pain as well as bilateral. The patient had no particular pathological history, the clinical examination was unremarkable, the neurological examination revealed a vestibular syndrome: tinnitus, hypoacusis. The labyrinthine Romberg sign, the deviation of the index fingers, the lateropulsions when walking, occur on the injured side, without facial paralysis, a sublesional syndrome: spastic tetraparesis with sharp reflexes with sensory disturbances: tingling and hypoesthesia of the 04 limbs.
Brain Magnetic Resonance Imaging : showed the tumoral iso signal in intermediate T1 in heterogeneous T2, the posterior of 24 by 22 mm, a thickening of the choroid plexus with moderate hydrocephalus.
The presence of a right hemispherical subdural collection of right vestibular of 10 mm, tissue filling of the middle cell, it is associated with a right lateral peribulbar formation the patient was operated on as a first "emergency" with a trephine hole for the subdural hematoma, then we continued the exploration by spinal MRI.

Objective spinal cord MRI: