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

BACKGROUND ACTA2 gene is a specific gene that encodes actinα2.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.

Fracture of proximal radius combined with dislocation of the radial head:a case report

Forearm fractures are prevalent which include radius fractures,ulna fractures,or both radius and ulna fractures.Proximal radius fractures combined with dislocations of the radial heads are rare and easily misdiagnosed.The authors present and discuss a case of proximal radius fractures associated with radial head dislocations.A 36 years old male was admitted to the hospital due to pain and activity limitation in his left elbow for 7 hours due to a car accident.An X-ray of the left elbow joint revealed a“left radius fracture with surrounding soft tissue edema”.During the procedure,the radial head was found to be dislocated forward.A 3.0 mm anchor was used to fix the annular ligament.Radius fractures combined dislocations of the radial heads are rare and may be missing the diagnosis.Before undergoing surgery,the possibility of elbow dislocation should be evaluated.Wire anchors can provide reliable fixation.