Moshekov E, Ionkov A
Khirurgiia (Sofiia). 2006(3):59-60.
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.
肛门直肠畸形、骶尾部缺损和骶前肿块三联征最早由肯尼迪于1926年描述。1981年，库里亚里诺等人将这些病症确认为一种综合征。库里亚里诺综合征（CS）属于神经肠畸形组，与慢性便秘有关。骶前肿块通常是畸胎瘤或前脑膨出。肛门直肠畸形要么是肛门狭窄，要么是肛门闭锁。该综合征的三个特征性异常可归因于胚胎发育早期脊索的共同发育缺陷或异常。目前的基因研究表明，约50%的患者中，基因HLXB9的突变与该综合征的常染色体显性遗传特征有关。本文报告了一例罕见的库里亚里诺综合征病例，这是我们临床实践中的首例，同时讨论了诊断和治疗问题并回顾了相关文献。
