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A Behavioral Screen for Heat-Induced Seizures in Mouse Models of Epilepsy
Published on: July 12, 2021
ACTA2 mutation is responsible for multisystemic smooth muscle dysfunction syndrome with seizures: A case report and
Wen-Xian Yang1, Hang-Hu Zhang2, Jia-Ni Hu2
1Department of Pediatrics, Shaoxing University School of Medicine, Shaoxing 312000, Zhejiang Province, China.
Background:
ACTA2 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 by ACTA2 gene 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.
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 (c.536G>A) was identified in the ACTA2 gene, resulting in generation of p.R179H. Finally, 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.
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.
Insights
Multisystem smooth muscle dysfunction syndrome (MSMDS), caused by ACTA2 gene mutations, can lead to seizures. Genetic testing is crucial for diagnosing MSMDS and preventing misdiagnosis, especially in pediatric epilepsy cases.
Area of Science:
- Genetics
- Neurology
- Cardiology
Background:
- ACTA2 gene mutations cause Multisystem Smooth Muscle Dysfunction Syndrome (MSMDS), a condition affecting multiple organs.
- MSMDS is known for aortic and cerebrovascular lesions, but its link to seizures is less understood.
- This study highlights seizures as a potential manifestation of MSMDS.
Observation:
- A pediatric patient presented with a 7-year history of asthma and seizures.
- Cerebral imaging revealed brain vessel stiffness and paraventricular abnormalities.
- Genetic analysis identified a heterozygous ACTA2 gene mutation (c.536G>A, p.R179H).
Findings:
- The patient was diagnosed with MSMDS combined with epilepsy.
- Cerebrovascular and white matter injuries are implicated as causes of seizures in MSMDS.
- Successful seizure control was achieved with sodium valproate treatment.
Implications:
- MSMDS presents with diverse clinical features and distinct cranial imaging findings.
- Early diagnosis through gene detection is vital to prevent misdiagnosis.
- Understanding the link between MSMDS and epilepsy can improve patient management.
