摘要
背景/目的:Currarino综合征(CS)是以骶骨畸形、肛门直肠畸形(ARM)及骶前肿块为特征的尾部退化综合征的一种罕见形态。作者回顾性地分析了这一综合征的系列病例。
Background/purpose The Currarino syndrome (CS) is a peculiar form of caudal regression syndrome (CRS) characterized by the association of hemisacrum, anorectal malformation (ARM), and presacral mass. The authors analyzed retrospectively their series, and they propose a multidisciplinary diagnostic and therapuetic protocol that until now has not been introduced. Methods A series of 6 patients with CS is presented. Five of them were treated initially in other centers. None of them had an early diagnosis. All presented associated anomalies; in 50% , Hirschsprung's disease (HD) and other dysganglionoses were present. One patient died of a presacral ectopic nephroblastoma. Results Depending on the expressivity, 3 types of CS can be identified, complete, mild, and minimal. Dysganglionoses and HD can be considered part of CS. A multidisciplinary diagnostic and therapeutic protocol is presented. Main points are sacrum x-Ray, molecular genetic diagnosis, radiologic evaluation of every member of CS families, magnetic resonance (MR) evaluation of patient spine and pelvis, suction rectal biopsies, and search for associated anomalies. Conclusions This protocol could give a valid contribution to the treatment of CS, allowing an early diagnosis and proposing a rational timing of multi-disciplinary surgical procedures. Early diagnosis and treatment are essential to avoid morbidity and mortality from an undiagnosed presacral mass.
