Neurofibromatosis 2: rare constellation of findings with extensive cranial nerve involvement

Hiremath, Rudresh; Dakshin, Vishnu; Agrawal, Shweta

doi:10.1016/j.radcr.2020.10.050

Cited by 1 publication

(3 citation statements)

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“…NF2 is inherited as an autosomal-dominant condition [ 1 ]. Of note, 50% of the cases are autosomal-dominant, while the remaining 50% are associated with a de-novo mutation.…”

Section: Discussionmentioning

confidence: 99%

“…Neurofibromatosis is a genetic disorder of the nervous system that causes tumors to form in the brain, spinal cord, and nerves [ 1 ]. The condition is further classified into neurofibromatosis type I (NF1) and neurofibromatosis type II (NF2).…”

Section: Introductionmentioning

confidence: 99%

“…The diagnosis of NF2 is usually made in the second and third decades of life, and most patients are aged 18-24 years. The patients with a family history of NF2 should be screened as early as 10-12 years of age followed by annual MRI screening until they reach 40 years of age [ 1 ]. NF2 is caused by a mutation on chromosome 22 [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

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Neurofibromatosis Type Two: A Case With Both Intracranial and Spinal Lesions

Banerjee¹,

Agarwal²

2021

Cureus

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We discuss the case of a 36-year-old male patient who presented with gait impairment. On examination, he had clinical findings of cervical myelopathy. The patient was evaluated with an MRI of the brain and spine, which revealed multiple spinal tumors, some causing significant canal stenosis. The spinal tumors involved the cervical, thoracic, and lumbar regions. There were both intramedullary and extramedullary tumors with an extraspinal extension. The patient's MRI brain also revealed bilateral vestibular schwannomas. His family history was negative. He subsequently underwent surgery for multiple spinal lesions followed by debulking of the rightsided vestibular schwannoma. The radiological findings of both intramedullary and extramedullary spinal tumors affecting the spinal cord and extensively involving the cervical, thoracic, and lumbar regions, and the requirement of spinal and cranial surgery concurrently make this a challenging neurosurgical case.

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“…NF2 is inherited as an autosomal-dominant condition [ 1 ]. Of note, 50% of the cases are autosomal-dominant, while the remaining 50% are associated with a de-novo mutation.…”

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%