gms | German Medical Science

Objective: Neurofibromatosis Type 2 (NF Type 2) is an autosomal-dominant tumor-prone disorder characterized by bilateral vestibular schwannomas and other CNS tumors. Less known manifestations of the disease, which are especially in children the first diagnostic hallmarks are bone lesions, NF2 polyneuropathy, peripheral (plexiform) schwannomas, eye muscle paresis, juvenile cataract and retinal hamartomas. Ischemic vasculopathy, a rare but well known phenomenon in Neurofibromatosis Type 1, is so far not described as presenting symptom in NF Type 2.

Methods: We present 3 cases of young adults and children, diagnosed with Neurofibromatosis Type 2 in the course of sudden ischemic vasculopathy of the brainstem (infarctions of pons and cerebral peduncle). The MRI scans patients received because of their ischemic stroke secondarily revealed bilateral vestibular schwannomas which were previously asymptomatic and unknown. Cases were retrospectively analyzed using clinical reports and T2-weighted MRI scans.

Results: Retrospectively all patients fulfill the Manchester (modified NIH) diagnostic criteria for NF Type 2. In all patients the ischemic event in the brainstem (2 patients) plus cerebellum (1 patient) triggered the diagnosis of NF Type 2. At time of the ischemic event patients were 7, 13 and 22 years old and sufferd from dysarthria, gait disturbances, dizziness and hemiparesis. One patient has still regredient but residual signs of hemiparesis and dysarthria. The other two fully recovered. In cMRI scans all patients show bilateral vestibular schwannoma and intracranial meningeomas.

Conclusion: This first description of ischemic vasculopathy as presenting symptom in young patients with NF Type 2 needs to be investigated in a larger collective to estimate its true incidence. Also complementary genetic tests or special imaging are needed to verify the presumed vasculopathy on a morphological or biochemical basis in these patients.