Currarino syndrome associated with Hirschsprung's disease: Case report and literature review

摘要

We present a rare family consisting of a 10-month-old boy with complete Currarino syndrome associated with Hirschsprung's disease. His mother had been diagnosed as having incomplete Currarino syndrome. Only 11 cases of Currarino syndrome associated with Hirschsprung's disease have been reported in the literature. Our report suggests that it is necessary to perform preoperative examinations to rule out Hirschsprung's disease, if the patient presents with a history of severe defecation disorders from early childhood. Highlights ? Currarino syndrome (CS) is hereditary with autosomal dominant inheritance. ? We present a rare pediatric case of CS associated with Hirschsprung's disease (HD). ? The patient's mother had also been diagnosed as having incomplete CS.