Moyamoya Angiopathy and 15q11.2 Gene Deletion Syndrome

Although the moyamoya angiopathy has already been associated with several genetic and chromosomal alterations, its physiopathologic mechanisms are not completely understood. We report a case of a 7-year-old male with epilepsy, autism spectrum disorder, and delayed psychomotor development whose genetic investigation showed a deletion of the 15q11.2 gene. He presented with sudden neurologic deficits and neuroimaging studies showed cerebral infarctions, bilateral hypoperfusion, and intracranial carotid artery stenosis. Medical treatment with anticonvulsants and antiplatelets was followed by bilateral cerebral revascularization surgery (encephaloduroarteriosynangiosis). There were no seizures nor ischemic events during the follow-up period. The 15q11.2 gene deletion is a rare mutation related to epilepsy, neurodevelopmental disorders, and malformations. Therefore it is noteworthy that the deletion may also be related to other delayed brain diseases still unknown. To our knowledge, this is the first report of moyamoya syndrome with concurrent 15q11.2 gene deletion.