Objective: To analyze the clinical characteristics and diagnosis of multisystemic smooth muscle dysfunction syndrome(MSMDS). Method: Clinical data of a case diagnosed as MSMDS and hospitalized in our hospital in July 2016 was retrospectively analyzed. Literature search was performed at databases of PubMed, Wanfang, China National Knowledge Infrastructure and VIP with the key words "multisystemic smooth muscle dysfunction syndrome" "ACTA2" . The literature retrieval was confined from January 1980 to November 2016.The characteristics of MSMDS were summarized through review of literature. Result: A girl aged 1.6 years had recurrent cough and wheeze for more than 1 year, complicated with congenital fixed dilated pupils, patent ductus arteriosus, pulmonary hypertension, chronic lung disease, and cerebrovascular abnormalities. We had done gene analysis for the patient and found ACTA2 c. 536C>T(p.R179H) heterozygous mutations, but her parents were normal. Totally 11 reports were retrieved from foreign language literature and no report from Chinese literature could be found; the retrieved articles reported a total of 25 cases of multiple system smooth muscle dysfunction syndrome. The minimum age was 11 months, 17 cases were female, 8 were male. The clinical common characteristic is congenital fixed dilated pupils, patent ductus arteriosus, cerebrovascular disease, pulmonary hypertension, chronic lung disease, and so on. Conclusion: Genetic testing for ACTA2 gene mutations should be considered in infants presenting with congenital fixed dilated pupils and patent ductus arteriosus.
Objective: To analyze the clinical characteristics and diagnosis of multisystemic smooth muscle dysfunction syndrome(MSMDS). Method: Clinical data of a case diagnosed as MSMDS and hospitalized in our hospital in July 2016 was retrospectively analyzed. Literature search was performed at databases of PubMed, Wanfang, China National Knowledge Infrastructure and VIP with the key words "multisystemic smooth muscle dysfunction syndrome" "ACTA2" . The literature retrieval was confined from January 1980 to November 2016.The characteristics of MSMDS were summarized through review of literature. Result: A girl aged 1.6 years had recurrent cough and wheeze for more than 1 year, complicated with congenital fixed dilated pupils, patent ductus arteriosus, pulmonary hypertension, chronic lung disease, and cerebrovascular abnormalities. We had done gene analysis for the patient and found ACTA2 c. 536C>T(p.R179H) heterozygous mutations, but her parents were normal. Totally 11 reports were retrieved from foreign language literature and no report from Chinese literature could be found; the retrieved articles reported a total of 25 cases of multiple system smooth muscle dysfunction syndrome. The minimum age was 11 months, 17 cases were female, 8 were male. The clinical common characteristic is congenital fixed dilated pupils, patent ductus arteriosus, cerebrovascular disease, pulmonary hypertension, chronic lung disease, and so on. Conclusion: Genetic testing for ACTA2 gene mutations should be considered in infants presenting with congenital fixed dilated pupils and patent ductus arteriosus.