The Currarino triad: complex of anorectal malformation, sacral bony abnormality, and presacral mass

Kirks, Donald R.; Merten, David F.; Filston, Howard C.; Oakes, W. Jerry

doi:10.1007/bf01042245

Cited by 69 publications

(46 citation statements)

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“…Currarino syndrome (CS; MIM] 176450) is an autosomic dominant congenital malformation characterized by three main clinical features: anterior sacral bone defect (typical sickle-shaped sacrum or sacral agenesis below S2), hindgut anomaly, and a presacral mass (anterior meningocele, teratoma, rectal duplication, or a combination of these) [Kenefick, 1973;Ashcraft and Holder, 1974;Currarino et al, 1981;Kirks et al, 1984]. These sites share a common embryological origin in the tail bud.…”

Section: Introductionmentioning

confidence: 99%

Spectrum ofHLXB9gene mutations in Currarino syndrome and genotype-phenotype correlation

et al. 2008

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Communicated by Sergio OttolenghiCurrarino syndrome (CS) is a rare congenital malformation described in 1981 as the association of three main features: typical sacral malformation (sickle-shaped sacrum or total sacral agenesis below S2), hindgut anomaly, and presacral tumor. In addition to the triad, tethered cord and/or lipoma of the conus are also frequent and must be sought, as they may lead to severe complications if not treated. The HLXB9 gene, located at 7q36, is disease-causing. It encodes the HB9 transcription factor and interacts with DNA through a highly evolutionarily conserved homeodomain early in embryological development.

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Section: Introductionmentioning

confidence: 99%

Spectrum ofHLXB9gene mutations in Currarino syndrome and genotype-phenotype correlation

et al. 2008

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“…A typical "scimitar sacrum" is produced by a sharply marginated, unilateral crescent defect in the lateral sacral bodies [2,9,10], as shown in all our three cases. Other associated anomalies include hydronephrosis, vesicoureteric reflux, urinary incontinence, tethering of the cord, hydrocephalus [7,11], rectovaginal fistula, bicornuate or subseptate uterus and hereditary spherocytosis [12].…”

Section: Discussionmentioning

confidence: 79%

“…In the series of Kirks et al meningocele occurs in 48 % and teratoma in 39 % [2]. Also hamartoma, enteric duplication or a combination of these [2,3] were diagnosed. In accordance with these reports, all our three patients demonstrated a presacral meningocele and a predominantly fatty mass.…”

Section: Discussionmentioning

confidence: 95%

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MRI and radiographic findings in Currarino's triad

Pfluger¹,

Czekalla²,

Koletzko³

et al. 1996

Pediatr Radiol

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Currarino's triad is a rare complex of a congenital sacral bony abnormality, anorectal malformation and a presacral mass. Intractable constipation since birth is the leading symptom of this triad, which follows an autosomal dominant mode of heredity. We report conventional radiographic and MR findings in one family consisting of a mother and her two daughters. In all three cases, radiography revealed an abnormality of the os sacrum, the so-called scimitar sacrum. MR examination, undertaken next in our institution, was applied with T1-, T2- and proton density weighted sequences in all three orientations before and after i. v. application of gadolinium diethylene-triamine-pentaacetic acid (Gd-DTPA). In two patients we were able to diagnose the complete form of the triad and in one patient an incomplete form. In any case of a radiographically diagnosed scimitar sacrum in combination with constipation, Currarino's triad should be considered. MRI, as the method of choice, should be the next step to detect a presacral mass and any anomalies of the spinal canal. The importance of early recognition lies in the high morbidity and mortality rates resulting from this disorder.

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“…Cuando está presente una fístula entre el tracto gastrointestinal y el canal medular, la meningitis es una complicación posible y terrible (7) . Anomalías del tracto urinario como la vejiga neurógena, debido a compresión local por una masa o a déficit neurológico, son menos frecuentes (8) . Y finalmente, la agenesia sacra varía desde desviación lateral del cóccix hasta la ausencia de cuerpos vertebrales sacros distales.…”

Section: Figura 5 Imágenes Axiales Consecutivas De Resonancia Magnétunclassified

Síndrome de Currarino y enfermedad de Hirschsprung: Una asociación poco frecuente

et al. 2012

Rev. chil. radiol.

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IntroducciónEl síndrome de Currarino es una malformación congénita poco frecuente en la que, a una agenesia sacra parcial se pueden asociar, en forma de triada, masa presacra, malformaciones anorrectales y urogenitales (1) . La enfermedad de Hirschsprung, también se puede asociar a dicho síndrome.El objetivo de este trabajo es recordar la asociación de ambas entidades así como sus principales hallazgos radiológicos con la finalidad de que el radiólogo, en su práctica habitual tenga en cuenta que ante un síndrome de Currarino con estenosis rectal puede deberse a un Hirschsprung y que en un niño con enfermedad de Hirschsprung debe buscar los otros componentes de la triada de Currarino.Presentamos el caso de un niño de 3 años. Desde los 2 meses de vida presenta estreñimiento con estenosis anal (que se describe como de aspecto fibroso a 1 cm del margen anal) que impide el tacto rectal, realizando dilatación anal a los 6 meses. El paciente es controlado en la consulta de cirugía persistiendo el estreñimiento y la estenosis anal, con ampolla rectal distendida, decidiendo a los 12 meses de vida la realización de cut-back y biopsia de mucosa-submucosa rectal con resultado anatomopatológico de ausencia casi completa de células agangliónicas, siendo diagnosticado de enfermedad de Hirschsprung. Persiste la clínica de estreñimiento y a los dos años y medio de edad se procede a tratamiento quirúrgico vía transanal con ampliación mediante plastia posterior y resección parcial de la zona fibrosa más posterior. Durante dicho ingreso tras enema opaco cuyos hallazgos confirman la sospecha clínica de Hirschsprung (Figura 1) se detecta ausencia de cóccix en la radiografía simple

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The Currarino triad: complex of anorectal malformation, sacral bony abnormality, and presacral mass

Cited by 69 publications

References 12 publications

Spectrum ofHLXB9gene mutations in Currarino syndrome and genotype-phenotype correlation

Spectrum ofHLXB9gene mutations in Currarino syndrome and genotype-phenotype correlation

MRI and radiographic findings in Currarino's triad

Síndrome de Currarino y enfermedad de Hirschsprung: Una asociación poco frecuente

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