ACTA2 mutation is responsible for multisystemic smooth muscle dysfunction syndrome with seizures: A case report and review of literature

Figure 1 Cerebral magnetic resonance imaging (axial T1-weighted, T2-weighted, fluid attenuated inversion recovery images) for the patient with multi-systemic smooth muscle dysfunction syndrome multiple. A-C: Cerebral Magnetic resonance imaging showed multiple aberrant signal shadows in bilateral paraventricular; D: There was no enhancement in contrast-enhanced scan; E: Lateral projection of magnetic resonance angiography indicated abnormally straight course of intracranial arteries.

Figure 2 Sequencing analysis results for the patient and her parents. The gene sequence map of the child showed the change of c.536G>A (the nucleotide cytosine mutation of coding region 536 became thymine). No mutation was identified in the sequencing data of her father and mother. A: The patient; B: Her father; C: Her mother; Green shadow indicated mutation sites.