Turkish Journal of Physical Medicine and Rehabilitation 2007 , Vol 53 , Num 1

Unusual Presentation of Neurofibromatosis Type 2 with Hemiparesis and Ataxia

Güneş Yavuzer 1 ,Duygu Geler Külcü 2
1 Ankara Üniversitesi Tıp Fakültesi, Fiziksel Tıp ve Rehabilitasyon Anabilim Dalı, Ankara
2 Haydarpaşa Numune Eğitim ve Araştırma Hastanesi, Fiziksel Tıp ve Rehabilitasyon Kliniği, İstanbul, Türkiye

Neurofibromatosis 2 (NF2) is an autosomal-dominant disease, which is characterized by vestibular Schwannomas (acoustic neurinoma) as well as tumors of the peripheral and central nerve system, demonstrating a variety of expression. In this study, an 18 year-old girl referred to our unit with left hemiparesis and gait imbalance is presented. During her stay in hospital; by examining detailed history of complains physical examination, magnetic resonance imaging and genetic analysis, she had the diagnosis of Neurofibromatosis 2. The hemiparesis and ataxia resolved completely after treatment with a rehabilitation program and she left our unit walking without any support. Since early diagnosis of NF2 remains the single most important factor for the best outcome, altough it is a rare condition, NF2 must be examined in differential diagnosis in such cases.

Keywords : Neurofibromatosis 2, hemiparesis, ataxia