A case of ACTG2 visceral myopathy diagnosed by early comprehensive gene analysis

Abstract

 The patient was found megacystis from the fetal stage, and after birth, he had dysuria and vomiting repeatedly after feeding, so he was suspected allied disorders of Hirschsprung’s disease. Although full thickness intestinal biopsy is recommended for differential diagnosis, in this case, comprehensive gene analysis early after birth could diagnose ACTG2 visceral myopathy without invasive examination. Although the complications and severity of this disease vary widely, many cases have been reported to have pathological genetic abnormalities. Early diagnosis and prediction of poor prognosis may be useful in determining management strategies.