Abstract
We describe a 12-year-old boy with a diagnosis of familial NF1. Brain MR scan performed for right pyramidal hemiparesis disclosed a vascular dysplasia causing stenosis of the intracranial portion of the right internal carotid artery and compensatory cortical vascular congestion. This abnormality was not encountered in the other two family members affected. We discuss the pathogenesis of the hemiparesis as being ipsilateral to the vascular dysplasia and emphasize the different clinical expressions of NF1 within the same family. Given the rarity of cerebrovascular dysplasia in childhood NF1, we suggest specific study protocols be adopted to identify the true incidence of this abnormality. Brain MR scanning should be included in the diagnostic protocol of NF1 and NF1 entertained among the causes of stroke in childhood.
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