Moyamoya angiopathy in PHACE syndrome not associated with RNF213 variants.


Department of Neurology, Alfried Krupp von Bohlen und Halbach Hospital, Alfried-Krupp-Str. 21, 45117, Essen, Germany. [Email]


Moyamoya angiopathy is a rare vasculopathy with stenosis and/or occlusion of bilateral intracranial parts of internal carotid arteries and/or proximal parts of middle and anterior cerebral arteries. PHACE syndrome is characterized by large segmental hemangiomas in the cervical-facial region. Both conditions are known to be associated in rare cases. Recently, it was discussed in the literature that RNF213 variants could be etiologically involved in this association. Here, we describe a childhood case with this rare co-occurrence in which we did not identify any rare RNF213 variant. The clinical and genetic backgrounds are discussed.


Moyamoya angiopathy,PHACE,Rare RNF 213 variants,