Currarino syndrome: Proposal of a diagnostic and therapeutic protocol



      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.


      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.


      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.


      This protocol could give a valid contribution to the treatment of CS, allowing an early diagnosis and proposing a rational timing of multidisciplinary surgical procedures. Early diagnosis and treatment are essential to avoid morbidity and mortality from an undiagnosed presacral mass.


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        • Torre M.
        • Martucciello G.
        • Jasonni V.
        Sacral development in anorectal malformations and in normal population.
        Pediatr Radiol. 2001; 31: 858-862
        • Kalitzki M.
        Congenital malformations and diabetes.
        Lancet. 1965; 2: 641-642
        • Pang D.
        Sacral agenesis and caudal spinal cord malformations.
        Neurosurgery. 1993; 32: 755-779
        • Cama A.
        • Palmieri A.
        • Capra A.
        • et al.
        Multidisciplinary management of caudal regression syndrome (26 cases).
        Eur J Pediatr Surg. 1996; 6: 44-45
        • Currarino G.
        • Coln D.
        • Votteler T.
        Triad of anorectal, sacral, and presacral anomalies.
        Am J Radiol. 1981; 137: 395-398
        • Peña A.
        Anorectal malformations.
        Semin Pediatr Surg. 1995; 4: 35-37
        • O’Riordain D.S.
        • O’ Connel P.R.
        • Kirwan W.O.
        Hereditary sacral agenesis with presacral mass and anorectal stenosis.
        Br J Surg. 1991; 78: 536-538
        • Köchling J.
        • Karbasiyan M.
        • Reis A.
        Spectrum of mutations and genotype—Phenotype analysis in Currarino syndrome.
        Eur J Hum Genet. 2001; 9: 599-605
        • Gudinchet F.
        • Maeder P.
        • Laurent T.
        • et al.
        Magnetic resonance detection of myelodysplasia in children with Currarino triad.
        Pediatr Radiol. 1997; 27: 903-907
        • Belloni E.
        • Martucciello G.
        • Verderio D.
        • et al.
        Involvement of the HLXB9 Homeobox gene in Currarino syndrome.
        Am J Hum Genet. 2000; 66: 312-319
        • Lynch S.A.
        • Yiming W.
        • Strachan T.
        • et al.
        Autosomal dominant sacral agenesis.
        J Med Genet. 2000; 37: 561-566
        • Köchling J.
        • Pistor G.
        • Märzhäuser B.
        • et al.
        Hereditary trasmitted syndrome of anorectal, sacral and presacral anomalies. Case report and review of the literature.
        Eur J Pediatr Surg. 1996; 6: 114-119
        • Lynch S.A.
        • Bond P.M.
        • Copp A.J.
        • et al.
        A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36.
        Nat Genet. 1995; 11: 93-95
        • Seri M.
        • Martucciello G.
        • Paleari L.
        • et al.
        Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment.
        Hum Genet. 1999; 104: 108-110
        • Samuel M.
        • Hosie G.
        • Holmes K.
        Currarino Triad-diagnostic dilemma and a combined surgical approach.
        J Pediatr Surg. 2000; 35: 1790-1794
        • Borchard F.
        • Meier-Ruge W.
        • Wiebecke B.
        • et al.
        Inervationsstörungen des Dickdarms—Klassifikation und Diagnostik.
        Pathologe. 1991; 12: 171-174
        • Ilhan H.
        • Tokar B.
        • Atasoy M.A.
        • et al.
        Diagnostic steps and staged operative approach in Currarino’s triad.
        Child’s Nerv Syst. 2000; 16: 522-524
        • Pfluger T.
        • Czekalla R.
        • Koletzko S.
        • et al.
        MRI and radiographic findings in Currarino’s triad.
        Pediatr Radiol. 1996; 26: 524-527
        • Zia-ul-Miraj M.
        • Brereton R.J.
        Currarino’s triad.
        Pediatr Surg Int. 1998; 13: 437-439
        • Baltogiannis N.
        • Mavridis G.
        • Soutis M.
        • et al.
        Currarino triad associated with Hirschsprung’s disease.
        J Pediatr Surg. 2003; 38: 1086-1089
        • Martucciello G.
        • Mazzola C.
        • Favre A.
        • et al.
        Preoperative enzymo-histochemical diagnosis of dysganglionoses associated with anorectal malformations (ARM) with recto-vestibular and recto-perineal fistula.
        Eur J Pediatr Surg. 1999; 9: 96-100
        • Hunt P.T.
        • Davidson K.C.
        • Ashcraft K.W.
        • et al.
        Radiography of hereditary presacral teratoma.
        Radiology. 1977; 122: 187-191
        • Yates V.D.
        • Wilory R.S.
        • Whitington G.L.
        • et al.
        Anterior sacral defects.
        J Pediatr. 1983; 102: 239-242
        • Tander B.
        • Baskin D.
        • Bulut M.
        A case of incomplete Currarino triad with malignant transformation.
        Pediatr Surg Int. 1999; 15: 409-410
        • Norum J.
        • Wist E.
        • Bostad L.
        Incomplete Currarino syndrome with a presacral leiomyosarcoma.
        Acta Oncologica. 1991; 30: 987-988
        • Cremonesi L.
        • Firpo S.
        • Ferrari M.
        • et al.
        Double-gradient DGGE for optimized detection of DNA point mutations.
        Biotechniques. 1997; 22: 326-330
        • Pini Prato A.
        • Martucciello G.
        • Jasonni V.
        J Pediatr Surg. 2001; 36: 1364-1366
        • Lee S.C.
        • Chung Y.S.
        • Jung S.E.
        • et al.
        Currarino triad.
        J Pediatr Surg. 1997; 32: 58-61
        • Otagiri N.
        • Matsumoto Y.
        • Yoshida Y.
        Posterior sagittal approach for Currarino sindrome with anterior sacral maningocele.
        J Pediatr Surg. 2000; 35: 1112-1114