[Currarino syndrome. A rare cause of severe constipation. Case report and literature review].
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.
Vargas-González
R
R
Laboratorio de Inmunopatología de Puebla y Departamento de Patología, Hospital para el Niño Poblano, Puebla, México. dr.robertovargas@inmunopat.com
Paniagua-Morgan
F
F
Victoria
G
G
De la Torre-Mondragón
L
L
Manuel Aparicio
J
J
D001003:Anal Canal / Q000002:abnormalities*; D002675:Child, Preschool; D003248:Constipation / Q000209:etiology*; D004065:Digestive System Abnormalities / Q000150:complications*; D006801:Humans; D008297:Male; D012007:Rectum / Q000002:abnormalities*; D012447:Sacrum / Q000002:abnormalities*; D012720:Severity of Illness Index; D013595:Syringomyelia / Q000150:complications*