[P1-205] A Case Report of Multi-deficiency of Smooth Muscles with ACTA2 Mutation
[Introduction] ACTA2 gene codes α2-smooth muscle actin (α2-SMA). Heterozygous missense mutations in ACTA2 cause multi-deficiency of Smooth Muscle. It is characterized by distinct systemic arteriopathy and cerebrovascular disease. We report here the clinical course in a case with heterozygous missense mutations in ACTA2 presented with cerebral infarction.
[Case] The patient is a 4-year-old girl with chronic lung disease, who took an operation of patent ductus arteriosus at National Cerabral and Cardiovascular Center. She presented with the right hemiplegia during mycoplasma pneumonia in National Center of Child Health and Development. Her brain MRI showed cerabral infarction in the middle cerebral artery (MCA) area, then she started to take edaravone intravenously, and aspirin per os. We performed steroid pulse therapy for possible mycoplasma vasculitis, but it was ineffective. The MRI showed also bilateral and multiple, old infarction, and MRA showed abnormally straight and thin intracranial arteries without Moyamoya vessels, suggested ACTA2 mutation. Because gene test showed heterozigous R179H mutation in ACTA2 gene, she was diagnosed as multi-dysfunction of smooth muscle. Since then, she had no other infarction. However, because brain SPECT with acetazolamide challenge showed that her left cerebrovascular reserve capacity is very low, direct and indirect operations for revascularizations were required.
[Conclution] In cases with repetitive infarctions in childhood and specific intracranial arteriopathy without Moyamoya vessels, ACTA2 gene mutations test and systemic check should be taken into consideration.
[Case] The patient is a 4-year-old girl with chronic lung disease, who took an operation of patent ductus arteriosus at National Cerabral and Cardiovascular Center. She presented with the right hemiplegia during mycoplasma pneumonia in National Center of Child Health and Development. Her brain MRI showed cerabral infarction in the middle cerebral artery (MCA) area, then she started to take edaravone intravenously, and aspirin per os. We performed steroid pulse therapy for possible mycoplasma vasculitis, but it was ineffective. The MRI showed also bilateral and multiple, old infarction, and MRA showed abnormally straight and thin intracranial arteries without Moyamoya vessels, suggested ACTA2 mutation. Because gene test showed heterozigous R179H mutation in ACTA2 gene, she was diagnosed as multi-dysfunction of smooth muscle. Since then, she had no other infarction. However, because brain SPECT with acetazolamide challenge showed that her left cerebrovascular reserve capacity is very low, direct and indirect operations for revascularizations were required.
[Conclution] In cases with repetitive infarctions in childhood and specific intracranial arteriopathy without Moyamoya vessels, ACTA2 gene mutations test and systemic check should be taken into consideration.