Vargas-González R, Paniagua-Morgan F, Victoria G, De la Torre-Mondragón L, Manuel Aparicio J
Laboratorio de Inmunopatología de Puebla y Departamento de Patología, Hospital para el Niño Poblano, Puebla, México.
Rev Gastroenterol Mex. 2008;73(2):80-4.
The association of congenital anorectal malformation, sacral defect and a presacral mass is known as the Currarino syndrome described for the first time in 1981. Currarino et al. proposed that abnormal endoectodermal adhesions and notochordal defects in early fetal life may result in a fistula between the gut and the spinal ca- nal with enteric elements ventrally and neural elements dorsally. In over 80% of cases, the syndrome is diagnosed during the first decade of life. Intractable constipation since birth is the leading symptom of this triad, which follows an autosomal dominant mode of heredity. Rectal examination, plain radiographs and magnetic resonance imaging are the main tools for the diagnosis. The medical therapy is poorly successful and, therefore, combined medical and neurosurgical assessment and management for all cases of Currarino syndrome are recommended. The authors present a case of a patient with the classic features of this syndrome and briefly review the relevant literature.
先天性肛门直肠畸形、骶骨缺损和骶前肿块的关联被称为库拉里诺综合征,于1981年首次被描述。库拉里诺等人提出,胎儿早期内胚层异常粘连和脊索缺陷可能导致肠道与脊髓之间形成瘘管,肠道成分位于腹侧,神经成分位于背侧。超过80%的病例在生命的第一个十年内被诊断出来。自出生以来的顽固性便秘是这三联征的主要症状,其遗传方式为常染色体显性遗传。直肠检查、X线平片和磁共振成像为主要诊断手段。药物治疗效果不佳,因此,建议对所有库拉里诺综合征病例进行药物和神经外科联合评估与治疗。作者介绍了一例具有该综合征典型特征的患者,并简要回顾了相关文献。