Report on a child with neurofibromatosis type 2 and unilateral moyamoya: further evidence of cerebral vasculopathy in NF2
Letter to Editor
Recently, Lascelles et al. reported on three children with neurofibromatosis type 2 (NF2) and intracerebral vasculopathy and/or ischemic strokes [1]. In our opinion, this report is particularly relevant given that our understanding of features in pediatric patients with NF2 continues to develop as more such reports are published.
NF2 is a rare disorder due to heterozygous mutations in the homonymous gene. Affected patients develop bilateral acoustic schwannomas and are prone to develop central and peripheral meningiomas, ependymomas, and neurinomas. They often present ophthalmological and dermatological findings, some of which are congenital.
Herein, we report an additional case of vasculopathy in a young boy with NF2, caused by an unreported intragenic duplication of NF2. He presented at 11.5 years of age with bilateral scotoma and papilledema in the left eye related to a meningoendothelial meningioma of the left middle cranial fossa. After subtotal removal of the...
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