Medical Case Reports

Neurofibromatosis Type-2: A Neurocutaneous Syndrome with Constellation of Multiple CNS Tumors

Neurofibromatosis type-2 (NF-2) is a rare autosomal dominant hereditary disease caused by mutation of NF-2 gene on chromosome 22. Clinically it is characterized by presence of multiple CNS tumor types and is hence designated as central NF. Here we present a case of 20 year old male born of consainguous marriage who presented with multiple CNS tumors (vestibular schwannoma, meningioma, ependymoma and spinal neurofibroma) with juvenile posterior subcapsular cataract and café-au-lait spots. This case presents itself as a classic example of what has been described about NF-2.

Author(s):

Rajendra Kumar Pandey, Ankur Garg and Durgvijay Singh

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