2014Otorhinolaryngology Clinics - An International JournalRequires access

Neurofibromatosis II

Rashmi Sharma, Parmod Kalsotra, Rohan Gupta, Nitika Gupta, Ghanshyamdev Gupta

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Abstract

ABSTRACT Neurofibromatosis type II is an inherited autosomal dominant syndrome, characterized by multiple neoplasms of the central and peripheral nervous system associated with ocular abnormalities. The most common tumor associated with the disease is the vestibulocochlear schwannoma, and as many as 10% of patients with this tumor have neurofibromatosis type 2. In this report, we aim to present a 36-year-old female who presented with chief complaints of unilateral tinnitus, and, during her workup, which included cranial and whole spine magnetic resonance imaging, we found bilateral acoustic neuroma with multiple meningiomas. Based on clinical and imaging findings, the diagnosis of neurofibromatosis type 2 was made.

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ABSTRACT Neurofibromatosis type II is an inherited autosomal dominant syndrome, characterized by multiple neoplasms of the central and peripheral nervous system associated with ocular abnormalities. The most common tumor associated with the disease is the vestibulocochlear schwannoma, and as many as 10% of patients with this tumor have neurofibromatosis type 2. In this report, we aim to present a 36-year-old female who presented with chief complaints of unilateral tinnitus, and, during her workup, which included cranial and whole spine magnetic resonance imaging, we found bilateral acoustic neuroma with multiple meningiomas. Based on clinical and imaging findings, the diagnosis of neurofibromatosis type 2 was made.

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Available abstract

ABSTRACT Neurofibromatosis type II is an inherited autosomal dominant syndrome, characterized by multiple neoplasms of the central and peripheral nervous system associated with ocular abnormalities. The most common tumor associated with the disease is the vestibulocochlear schwannoma, and as many as 10% of patients with this tumor have neurofibromatosis type 2. In this report, we aim to present a 36-year-old female who presented with chief complaints of unilateral tinnitus, and, during her workup, which included cranial and whole spine magnetic resonance imaging, we found bilateral acoustic neuroma with multiple meningiomas. Based on clinical and imaging findings, the diagnosis of neurofibromatosis type 2 was made.

Key concepts: Neurofibromatosis, Neurofibromatosis type 2, Schwannoma, Medicine, Tinnitus, Acoustic neuroma, Magnetic resonance imaging, Vestibulocochlear nerve

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