Article ID Journal Published Year Pages File Type
6214234 International Journal of Pediatric Otorhinolaryngology Extra 2014 5 Pages PDF
Abstract

Neurofibromatosis 2 (NF2) is a genetically inherited tumor predisposition syndrome. It predisposes to the development of multiple tumors of the central nervous system including schwannomas, meningiomas and ependymomas. Bilateral vestibular schwannomas (VS) are pathognomonic for the disease. In childhood, non-auditory symptoms often mark the onset of the NF2, such as facial palsy, peripheral neuropathy, and neurosurgical emergencies. In this article, we describe the case of a 6-year-old child presenting with an ischemic brain-stem stroke, who was later diagnosed with NF2. We report the clinical and genetic findings and review the previous literature on vasculopathy reported in association with NF2, with a focus on the symptoms presenting at disease onset. For our case patient, an unpublished germline mutation resulting in frameshift (c.876_877insT) was identified on blood screening. We report our full multidisciplinary assessment with vascular angiography, volumetric MRI and audiometry. Vasculopathy is not currently included in the criteria traditionally used for diagnosis of NF2. We suggest that vascular stroke in childhood may be considered a presenting symptom for NF2.

Related Topics
Health Sciences Medicine and Dentistry Otorhinolaryngology and Facial Plastic Surgery
Authors
, , , , , , , ,