[Currarino syndrome--a case report].
The triad of anorectal malformation, a sacrococcygeal defect, and a presacral mass was first described by Kennedy in 1926. Currarino et al recognized these disorders as a syndrome in 1981. The Currarino syndrome (CS) belongs to the group of neurenteric malformations and is associated with chronic constipation. The presacral mass generally is a teratoma or an anterior meningocele. The anorectal malformation either is anal stenosis or agenesis. The 3 anomalies characterizing this syndrome can be ascribed to a common developmental defect or anomaly of the notochord in the early phases of embryogenesis. Currant genetic studies implicate mutations in gene HLXB9 for the autosomal dominant inherited character of the syndrome in about 50% of the patients. A rare case of Currarino syndrome is presented as a first one in our practice with the diagnostic and therapeutic problems and review of the literature.
Moshekov
E
E
Ionkov
A
A
D001003:Anal Canal / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000601:surgery; D003248:Constipation / Q000175:diagnosis / Q000209:etiology; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007223:Infant; D008588:Meningocele / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics / Q000601:surgery; D009154:Mutation; D011859:Radiography; D012007:Rectum / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000601:surgery; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics
D018398:Homeodomain Proteins; C490003:MNX1 protein, human; D014157:Transcription Factors