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Neurofibromatosis 2: rare constellation of findings with extensive cranial nerve involvement
In this report, we aim to present a sporadic case of a 17-year old female patient who presented to the Radiodiagnosis department in JSS Hospital, Mysuru, India with complaints of insidious onset of difficulty in walking, motor & sensory impairment, slurring of speech, difficulty in food ingestio...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7674164/ https://www.ncbi.nlm.nih.gov/pubmed/33240459 http://dx.doi.org/10.1016/j.radcr.2020.10.050 |
Sumario: | In this report, we aim to present a sporadic case of a 17-year old female patient who presented to the Radiodiagnosis department in JSS Hospital, Mysuru, India with complaints of insidious onset of difficulty in walking, motor & sensory impairment, slurring of speech, difficulty in food ingestion, and hearing impairment. Magnetic resonance imaging revealed bilateral vestibular & non vestibular Schwannomas with extensive cranial nerve involvement, multiple spinal & falcine meningiomas, and cervicodorsal intramedullary ependymoma amongst other findings. These core features give rise to the acronym MISME, which describes Multiple Inherited Schwannomas, Meningiomas and Ependymomas. This case is being reported to highlight the rare constellation of multiple cranial nerve Schwannomas, meningiomas, ependymomas and other peripheral nerve sheath tumors in a single patient and will add to the evidence of MISME in world literature. |
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