A case of incomplete Currarino triad with malignant transformation

Tander, Burak; Baskin, Didem; Bulut, Melih

doi:10.1007/s003830050615

Cited by 34 publications

(29 citation statements)

References 7 publications

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“…Interestingly, HLXB9 gene mutations are associated with a high rate of solid presacral tumor development such as benign teratoma (23/26 mutated patients compared to 12/24 for nonmutation carriers). Malignancy in CS has been reported in the literature for four children and for four adults [Ashcraft and Holder, 1974;Yates et al, 1983;Norum et al, 1991;O'Riordain et al, 1991;Tander et al, 1999;Martucciello et al, 2004;Urioste et al, 2004;Sen et al, 2008]. It may be consistent with recent studies detecting high levels of HLXB9 mRNA in hindgut, breast, and neuroendocrine tumor cells, suggesting a putative role of HB9 protein in particular types of tumor development [Neufing et al, 2003;Hollington et al, 2004].…”

Section: Genotype^phenotype Correlationsupporting

confidence: 71%

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: Genotype^phenotype Correlationsupporting

confidence: 71%

Spectrum ofHLXB9gene mutations in Currarino syndrome and genotype-phenotype correlation

et al. 2008

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“…Approximately 300 similar cases have been reported to date in the literature[1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25]. The majority of these lesions have been reported as sporadic, isolated cases.…”

Section: Discussionmentioning

confidence: 90%

“…Moreover, Ashcraft and Holder [18] reported the triad in 1974 and determined hereditary presacral teratoma and sacral defects in 21 cases; 12 of the patients concerned had anorectal stenosis. The triad is characterized as complete if all 3 anomalies are present [8,9,11,19]. …”

Section: Introductionmentioning

confidence: 99%

Currarino Triad: Surgical Management and Follow-Up Results of Three Cases

Isik¹,

Elmacı²,

Gökben³

et al. 2010

Pediatr Neurosurg

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The Currarino syndrome is a rare triad that is a combination of a presacral mass, a congenital sacral bony abnormality and an anorectal malformation. We present 4 children with complete Currarino triad who were diagnosed using MRI. Our aim was to report the neurosurgical management of Currarino syndrome in children. All of the patients had chronic constipation and pain in the lumbosacral region. In the plain radiograph, 3 patients had a sacral scimitar-shaped bony abnormality, and 1 patient had total sacral agenesis. There was a narrow anal canal or narrow ventrally displaced anus in all patients. Their anorectal malformations were characterized as anal stenoses (4 patients), associated with Hirschsprung’s disease in 2 cases. In 3 patients, MRI showed tethered cord syndrome in addition to the presacral mass. There was hydrocephalus in 1 patient. Anal stenosis was treated by anal dilatation. In 2 patients, rectal biopsy and temporary colostomy (2 patients) had been performed previously due to Hirschsprung’s disease. We performed a posterior procedure via lumbar and sacral partial laminectomy-laminoplasty and transdural ligation of the neck of the meningocele for anterior sacral meningoceles, or alternatively, tumor excision for other types of presacral lesions. Histopathologically, 3 were cases of anterior sacral meningoceles and 1 was a teratoma. One of them also had a spinal abscess. He required reoperation (twice) and appeared at the time to have improved with medical therapy. All patients improved and stabilized. There were no additional neurological deficits and no recurrence of the presacral mass over the follow-up period (6 years, on average). The family pedigree did not reveal any familial transmission pattern. In cases of Currarino triad, MRI can allow the characterization of the presacral masses. If it is an anterior sacral meningocele or a solid tumor without severe anorectal malformation, it can be managed with posterior lumbar and sacral procedures. Such approaches are performed easily by transdural ligation of the neck of the anterior sacral meningocele or through tumor excision.

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“…Prior to 1999, only a single death from malignant disease had been reported in children with Currarino syndrome (17). Accordingly, our view was that excision of the presacral masses was not a matter of any urgency.…”

Section: Presacral Tumours and The Risk Of Malignancymentioning

confidence: 89%