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

Nov 4, 2021World journal of clinical cases

ACTA2 gene mutation linked to widespread smooth muscle problems and seizures: A case report and literature review

AI simplified

Abstract

A heterozygous mutation in the gene ACTA2 was identified in a 7-year-old girl diagnosed with multisystem smooth muscle dysfunction syndrome (MSMDS) and epilepsy.

The patient experienced recurrent cough, asthma, and seizures over a period of 7 years.
Cardiac imaging revealed several abnormalities, including a patent ductus arteriosus measuring 0.68 cm and pulmonary hypertension.
Cerebral imaging showed stiffness in brain vessels and multiple aberrant signals in the paraventricular regions.
Four seizure episodes were recorded prior to treatment, with no seizures reported after one year of sodium valproate administration.
MSMDS may present with diverse clinical features and specific imaging characteristics related to cerebrovascular injury.

AI simplified

BACKGROUND: gene is a specific gene that encodes actin α2. Multisystem smooth muscle dysfunction syndrome (MSMDS) is a multisystem disease characterized by aortic and cerebrovascular lesions caused bygene mutations. There have been many reports of cardiac, pulmonary and cerebrovascular lesions caused by MSMDS; however, few studies have focused on seizures caused by MSMDS. ACTA2ACTA2

CASE SUMMARY: Our patient was a girl aged 7 years and 8 mo with recurrent cough, asthma and seizures for 7 years. She was diagnosed with severe pneumonia, congenital heart disease, cardiac insufficiency, and malnutrition in the local hospital. Cardiac ultrasonography revealed congenital heart disease, patent ductus arteriosus (with a diameter of 0.68 cm), left coronary arteriectasis, patent oval foramen (0.12 cm), tricuspid and pulmonary regurgitation, and pulmonary hypertension. Cerebral magnetic resonance imaging and magnetic resonance angiography indicated stiffness in the brain vessels, together with multiple aberrant signaling shadows in bilateral paraventricular regions. A heterozygous mutation (G>A) was identified in thegene, resulting in generation ofFinally, the girl was diagnosed with MSMDS combined with epilepsy. The patient had 4 episodes of seizures before treatment, and no onset of seizure was reported after oral administration of sodium valproate for 1 year. c.536ACTA2p.R179H.

CONCLUSION: MSMDS has a variety of clinical manifestations and unique cranial imaging features. Cerebrovascular injury and white matter injury may lead to seizures. Gene detection can confirm the diagnosis and prevent missed diagnosis or misdiagnosis.

Full Text

We can’t show the full text here under this license. Use the link below to read it at the source.

View full text ↗

Abstract

Full Text

Related papers

what lands in your inbox each week: