European Journal of Biomedical and Pharmaceutical Sciences

STATUS EPILEPTICUS AS A RARE CLINICAL PRESENTATION OF NEUROFIBROMATOSIS 2

Vivek Mohanty*, Ankith Bhasi, Sumanyu Suresh and Monika Pathania

ABSTRACT

Background: Neurofibromatosis 2 (NF2) is a rare genetic disorder of the nervous system usually diagnosed based on clinical and radiological findings. NF2 patients usually have positive family history with one or more 1st degree relative affected. Patients most commonly present with difficulty in hearing due to Vestibular Schwannomas. Presentation: Here we highlight an interesting case of 22 year old male who presented to Emergency Department in status epileptics and on further investigation was found to have multiple tumours (Bilateral Schwannomas, meningiomas, neurofibromas) and posterior subcapsular cataract consistent with NF2. Electroencephalogram (EEG) showed left focal epileptiform discharges. He was managed with antiepileptics and planned for surgical intervention for remaining tumours. Conclusion: Most patients of NF 2 have positive family history and symptoms appear at earlier age and are mostly related to Vestibular Schwannomas which is the most common tumour. However our patient had atypical initial presentation and combined with absence of family history and late age of presentation and absence of other symptoms made this a diagnostic challenge and a rare presentation.

Keywords: Neurofibromatosis 2, Schwannomas, Meningiomas, Posterior subcapsular cataract, status epilepticus.