• Keita Kanamori, Yuri Sakaguchi, Kyoji Tsuda, Satoshi Ihara, and Sahoko Miyama.
• Department of Neurology, Tokyo Metropolitan Children's Medical Center, 2-8-29 Musashidai, Fuchu, Tokyo 183-8561, Japan. Electronic address: kanamori-k@ncchd.go.jp.
• Brain Dev. 2021 Apr 1; 43 (4): 585-589.

IntroductionsA specific mutation in the ACTA2 gene is known to cause multisystemic smooth muscle dysfunction syndrome, which is associated with cerebrovascular diseases and various organ disorders. Cerebral infarctions resulting from severe vasculopathy can be refractory; however, there are no previous reports describing the detailed clinical course of recurrent cerebral infarctions due to an ACTA2 mutation. Herein, we report a patient with an ACTA2 mutation who experienced multiple refractory cerebral infarctions in early childhood.Patient DescriptionThe patient was aged 1 year and 5 months at her first episode of cerebral infarction. Arteriopathy due to an ACTA2 mutation was diagnosed based on the characteristic cerebrovascular findings and abnormal physical findings, such as bilateral dilated pupils. Bilateral encephaloduroarteriosynangiosis and encephalogaleosynangiosis were performed after the first episode. Because the cerebral infarctions recurred postoperatively, administration of cilostazol followed by bosentan was started. However, despite these treatments she experienced seven cerebral infarctions by age 2 years and 6 months.InterpretationCerebral infarctions in patients with a specific ACTA2 mutation can occur even in early childhood, recur frequently, and cause severe motor and cognitive impairment. Physicians should be highly aware of this disease and be ready to provide the medical and surgical interventions necessary to minimize the disabling sequelae.Copyright © 2020 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

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