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Refractory cerebral infarction in a child with an ACTA2 mutation
Keita Kanamori1, Yuri Sakaguchi1, Kyoji Tsuda2
1Department of Neurology, Tokyo Metropolitan Children's Medical Center, 2-8-29 Musashidai, Fuchu, Tokyo 183-8561, Japan.
A rare ACTA2 gene mutation can cause severe, recurrent childhood cerebral infarctions. This case highlights the need for early recognition and aggressive management of this rare vasculopathy to prevent devastating neurological outcomes.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- A specific mutation in the ACTA2 gene is linked to multisystemic smooth muscle dysfunction syndrome, causing cerebrovascular diseases and organ disorders.
- Cerebral infarctions from severe vasculopathy can be refractory, with limited documented cases of recurrent events in early childhood due to ACTA2 mutations.
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