Cargando…

Oculomotor nerve palsy in neurofibromatosis type 2

Neurofibromatosis (NF) type 2 is a rare neurological, autosomal dominant and genetic disorder. It is caused by a mutation in the tumor suppressor gene, called NF2 gene. The disorder results in several benign tumors of the nervous system. These typically include vestibular schwannomas, meningiomas, a...

Descripción completa

Detalles Bibliográficos
Autores principales: Shahab, Aymen, Sardar, Hafsa, Akhtar, Samaa, Safdar, Anam, Safi, Muhammad Ismail, Ahmad, Izaz, Khan, Faheemullah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9471338/
https://www.ncbi.nlm.nih.gov/pubmed/36120518
http://dx.doi.org/10.1016/j.radcr.2022.08.003
_version_ 1784789051252932608
author Shahab, Aymen
Sardar, Hafsa
Akhtar, Samaa
Safdar, Anam
Safi, Muhammad Ismail
Ahmad, Izaz
Khan, Faheemullah
author_facet Shahab, Aymen
Sardar, Hafsa
Akhtar, Samaa
Safdar, Anam
Safi, Muhammad Ismail
Ahmad, Izaz
Khan, Faheemullah
author_sort Shahab, Aymen
collection PubMed
description Neurofibromatosis (NF) type 2 is a rare neurological, autosomal dominant and genetic disorder. It is caused by a mutation in the tumor suppressor gene, called NF2 gene. The disorder results in several benign tumors of the nervous system. These typically include vestibular schwannomas, meningiomas, and ependymomas. Multiple cranial nerve abnormalities affect the brain, spinal cord, nerves, and skin and cause significant morbidity in patients. We describe a 20-year-old patient, with a family history of brain tumors, with symptoms of left sided third nerve palsy. Magnetic Resonance Imaging (MRI) of the brain and orbits revealed a small sized cavernous sinus meningioma and bilateral vestibular schwannomas. As per the differential diagnosis and optimal resolution brain imaging, NF2 was diagnosed. The patient was referred for specific treatment to the neuro-oncology unit. The case is distinct as the patient presented with a parasellar meningioma leading to third nerve palsy besides bilateral vestibular schwannomas. Manchester criteria and high contrast MR imaging proved more beneficial in our patient for the diagnosis of a wider clinical spectrum of NF2.
format Online
Article
Text
id pubmed-9471338
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher Elsevier
record_format MEDLINE/PubMed
spelling pubmed-94713382022-09-15 Oculomotor nerve palsy in neurofibromatosis type 2 Shahab, Aymen Sardar, Hafsa Akhtar, Samaa Safdar, Anam Safi, Muhammad Ismail Ahmad, Izaz Khan, Faheemullah Radiol Case Rep Case Report Neurofibromatosis (NF) type 2 is a rare neurological, autosomal dominant and genetic disorder. It is caused by a mutation in the tumor suppressor gene, called NF2 gene. The disorder results in several benign tumors of the nervous system. These typically include vestibular schwannomas, meningiomas, and ependymomas. Multiple cranial nerve abnormalities affect the brain, spinal cord, nerves, and skin and cause significant morbidity in patients. We describe a 20-year-old patient, with a family history of brain tumors, with symptoms of left sided third nerve palsy. Magnetic Resonance Imaging (MRI) of the brain and orbits revealed a small sized cavernous sinus meningioma and bilateral vestibular schwannomas. As per the differential diagnosis and optimal resolution brain imaging, NF2 was diagnosed. The patient was referred for specific treatment to the neuro-oncology unit. The case is distinct as the patient presented with a parasellar meningioma leading to third nerve palsy besides bilateral vestibular schwannomas. Manchester criteria and high contrast MR imaging proved more beneficial in our patient for the diagnosis of a wider clinical spectrum of NF2. Elsevier 2022-09-09 /pmc/articles/PMC9471338/ /pubmed/36120518 http://dx.doi.org/10.1016/j.radcr.2022.08.003 Text en © 2022 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Shahab, Aymen
Sardar, Hafsa
Akhtar, Samaa
Safdar, Anam
Safi, Muhammad Ismail
Ahmad, Izaz
Khan, Faheemullah
Oculomotor nerve palsy in neurofibromatosis type 2
title Oculomotor nerve palsy in neurofibromatosis type 2
title_full Oculomotor nerve palsy in neurofibromatosis type 2
title_fullStr Oculomotor nerve palsy in neurofibromatosis type 2
title_full_unstemmed Oculomotor nerve palsy in neurofibromatosis type 2
title_short Oculomotor nerve palsy in neurofibromatosis type 2
title_sort oculomotor nerve palsy in neurofibromatosis type 2
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9471338/
https://www.ncbi.nlm.nih.gov/pubmed/36120518
http://dx.doi.org/10.1016/j.radcr.2022.08.003
work_keys_str_mv AT shahabaymen oculomotornervepalsyinneurofibromatosistype2
AT sardarhafsa oculomotornervepalsyinneurofibromatosistype2
AT akhtarsamaa oculomotornervepalsyinneurofibromatosistype2
AT safdaranam oculomotornervepalsyinneurofibromatosistype2
AT safimuhammadismail oculomotornervepalsyinneurofibromatosistype2
AT ahmadizaz oculomotornervepalsyinneurofibromatosistype2
AT khanfaheemullah oculomotornervepalsyinneurofibromatosistype2