Currarino syndrome: Proposal of a diagnostic and therapeutic protocol

Martucciello, G.; Torre, Michele; Belloni, Elena; Lerone, Margherita; Prato, Alessio Pini; Cama, Armando; Jasonni, Vincenzo

doi:10.1016/j.jpedsurg.2004.05.003

Cited by 109 publications

(125 citation statements)

References 26 publications

(9 reference statements)

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“…11,12 Older patients with a mild phenotype may present with chronic constipation or scoliosis due to sacral dysgenesis in late childhood or as adults. 16,17,19,21 Features of this syndrome were noted as early as 1837, 4 but it was not until the 1981 report by Currarino et al 7 that the clinical triad was defined as a syndrome that could occur from a single embryological process. Early hypotheses suggested that an aberrant association between the endoderm and notochord led to incomplete fusion of vertebral elements, resulting in sacral dysgenesis and dysraphism.…”

Section: ©Aans 2014mentioning

confidence: 99%

“…We then limited our review to clinical studies reporting at least four cases, revealing 12 studies. 2,5,6,[14][15][16][17]19,21,22,26,27 One group reported an initial series 6 that was later updated with additional patients. 5 We then completed a data abstraction form for 11 unique studies, recording the total number of patients, the number of patients with a specific type of occult dysraphism (anterior meningocele, presacral tumor, lipoma, or other spinal cord anomaly such as a syrinx, split cord malformation, and so forth), the presence of tethered cord syndrome (no study specifically defined this term), the association of tethered cord syndrome with each type of dysraphism, and the presence of MNX1 mutations.…”

Section: Literature Reviewmentioning

confidence: 99%

“…Although specific definitions of tethered spinal cord or the criteria for surgical untethering were not included in any of the study reports, these data suggest that the risk of tethered cord syndrome is much higher when a spinal lipoma is identified on MRI. 2,5,6,[14][15][16][17]19,21,22,26,27 Tethered cord syndrome, defined as neurological symp toms caused by dysfunction of the lumbosacral spinal cord when it is anatomically fixed or "tethered" to an inelastic structure such as an occult dysraphism, 25 may be more difficult to ascertain in patients with Currarino syndrome because of the presence of anorectal malformations and frequent constipation. Recently, Lee and colleagues 18 reported urodynamic findings in 12 patients with Currarino syndrome who had undergone surgery for tethered cord release.…”

Section: Literature Reviewmentioning

confidence: 99%

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Currarino syndrome and spinal dysraphism

Kole

Fridley

Jea

et al. 2014

PED

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Currarino syndrome is a rare constellation of congenital anomalies characterized by the triad of sacral dysgenesis, presacral mass, and anorectal malformation. It is frequently associated with other congenital anomalies, often including occult spinal dysraphism. Mutations in the MNX1 gene are identified in the majority of cases. The authors report a rare case of Currarino syndrome in an infant with tethered cord syndrome and a dorsal lipomyelomeningocele continuous with a presacral intradural spinal lipoma, in addition to an imperforate anus and a scimitar sacrum. They review the literature to highlight patterns of occult spinal dysraphism in patients with Currarino syndrome and their relationship to tethered cord syndrome. Approximately 60% of the patients with Currarino syndrome reported in the literature have an occult spinal dysraphism. Published studies suggest that the risk of tethered cord syndrome may be higher among patients with a lipoma and lower among those with a teratoma or anterior meningocele.

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Section: ©Aans 2014mentioning

confidence: 99%

Section: Literature Reviewmentioning

confidence: 99%

Section: Literature Reviewmentioning

confidence: 99%

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Currarino syndrome and spinal dysraphism

Kole

Fridley

Jea

et al. 2014

PED

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“…Series of patients reporting clinical data and molecular studies followed with a mutation detection rate of about 50% overall and up to 90% in familial cases [Ross et al, 1998;Belloni et al, 2000;Hagan et al, 2000;Kochling et al, 2001;Martucciello et al, 2004;Urioste et al, 2004;Garcia-Barcelo et al, 2006;Wang et al, 2006;Liang et al, 2007;Volk et al, 2007]. A broad inter-and intrafamilial phenotypic variability is observed [Ross et al, 1998;Belloni et al, 2000;Hagan et al, 2000;Kochling et al, 2001] that accounts for late-onset CS or even undiagnosed cases.…”

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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“…Rectal biopsies should be standard procedure, although in 50% megacolon congenitum can be associated anomaly. [12] Multidisciplinary surgical team work is required to ensure adequate surgical treatment.…”

Section: Discussionmentioning

confidence: 99%

Currarino Syndroma, initially misdiagnosed and treated like megacolon congenitum

2011

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AbstractCurrarino syndrome was first described as a triad by Guido Currarino, an American radiologist in 1981. It is an autosomal dominant hereditary disease known by the triad of anorectal stenosis, anterior sacral defect, and a presacral mass that is most often an anterior sacral meningocele.We represent a 3 year boy with refractory constipation from birth, which had been wrongly diagnosed and treated as Hirschsprung’s disease since early childhood. The patient underwent urgent colostomy because of water intoxication due to bowel irrigation, and following investigations (CT, MRI) revealed anorectal anomaly and presacral mass compatible with Curarrino’s syndrome.Definitive operation was done with perineal approach, posterior sagittal anorectoplasty, with interval colostomy closure 2 months after perineal operation. An uncomplicated postoperative recovery ensued. The patient’s bowel habits successfully returned to normal soon after the operation. A multidisciplinary diagnostic and therapeutic protocol is presented. Main points are rectal examination, sacrum x-Ray, molecular genetic diagnosis, radiologic evaluation of every member of Currarino syndrome families, CT scan, magnetic resonance (MR) evaluation of patient spine and pelvis and suction rectal biopsies. If the mass is a meningocele, colostomy and neurosurgical exploration should precede anoplasty due to the risk of meningitis.

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Currarino syndrome: Proposal of a diagnostic and therapeutic protocol

Cited by 109 publications

References 26 publications

Currarino syndrome and spinal dysraphism

Currarino syndrome and spinal dysraphism

Spectrum ofHLXB9gene mutations in Currarino syndrome and genotype-phenotype correlation

Currarino Syndroma, initially misdiagnosed and treated like megacolon congenitum

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