Malignant transformation of presacral mass in Currarino syndrome

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.

Download Full-text

Variants of Currarino Syndrome: Embryological Association and Review of Pertinent Literature

International Journal of Embryology ◽

10.1155/2014/636375 ◽

2014 ◽

Vol 2014 ◽

pp. 1-5 ◽

Cited By ~ 4

Author(s):

Rahul Gupta ◽

Shyam Bihari Sharma ◽

Praveen Mathur ◽

Ram Babu Goyal

Keyword(s):

Sacrococcygeal Teratoma ◽

Presacral Mass ◽

Wound Sepsis ◽

Causative Gene ◽

Currarino Syndrome ◽

Cloacal Malformation ◽

First Case ◽

Sacral Defect ◽

Malformation Complex ◽

Sigmoid Loop Colostomy

Currarino syndrome is a triad of sacral defect, anorectal malformation and a presacral mass. The diagnosis is usually made late in childhood and about 50% of cases are familial with autosomal dominant inheritance. We present two neonates (one with vestibular fistula, and another with cloacal malformation) with the features consistent with Currarino syndrome, but with Altman’s type II sacrococcygeal teratoma, that is, presacral mass having an external sacrococcygeal component also. We believe that this triad should be considered a variant of Currarino syndrome. In first case, excision of the mass along with coccyx, followed by primary Posterior Sagittal AnoRectoPlasty was performed in the same setting. The patient succumbed to death due to septicemia as a result of wound sepsis. Learning from the previous experience, we decided to do a diverting sigmoid loop colostomy followed by posterior sagittal excision of the mass along with coccyx, in same sitting in the second case. There was no recurrence. Though HLXB9 has been identified as the major causative gene in Currarino syndrome, exact pathogenesis is still unclear. We herein highlight the significance of this variant of Currarino syndrome and propose a theory on the basis of an embryological association between the malformation complex.

Download Full-text

Currarino Syndrome: lower urinary tract function, treatment plan and outcomes

Investigación Clínica ◽

10.22209/ic.v62n2a01 ◽

2021 ◽

Vol 62 (2) ◽

pp. 103-111

Author(s):

Hongliang Xia ◽

Mingcui Fu ◽

Hangzhou Wang ◽

Xu Cao ◽

Xiangming Yan ◽

...

Keyword(s):

Urinary Tract ◽

Anorectal Malformation ◽

Lower Urinary Tract ◽

Lower Urinary Tract Dysfunction ◽

Presacral Mass ◽

Currarino Syndrome ◽

Sacral Agenesis ◽

Lower Urinary Tract Function ◽

Tract Function ◽

Lower Urinary

Currarino syndrome (CS) is a rare congenital disorder characterized by anorectal malformation, sacral agenesis and presacral mass. We performed video-urodynamics (VUDS) assessment of patients with CS to characterize the lower urinary tract function, individualize management plans and to follow outcomes. We conducted a cross-sectional study on 11 patients diagnosed with CS at the spina bifida multidisciplinary clinic. Lower urinary tract function was assessed by VUDS from three months to 12 months after neurosurgery. All patients had sacral agenesis; nine patients had anorectal malformation (9/11, 81.8%) and five patients had a presacral mass (5/11, 45.5%). The average age at neurosurgery was 7.9 months (range, 2–19). One patient had bilateral vesicoureteral reflux (VUR) with increasing detrusor pressure at the end of filling. In two patients, the detrusor activity showed weakening during urination, while no other lower urinary tract abnormality was identified on urodynamic evaluation. Six patients underwent VUDS before and after surgery; of these, two patients showed improved bladder function after surgery, while the remaining four patients showed no change in urodynamics. The average duration of follow-up was 27.5 months (range, 9–51). Renal function was normal in all patients. We can conclude that patients with CS often exhibit associated neurological abnormalities. VUDS assessment may help detect lower urinary tract dysfunction at an early stage and facilitate timely urological intervention to avoid kidney damage.

Download Full-text

Malignant transformation in sacrococcygeal teratoma and in presacral teratoma associated with Currarino syndrome: A comparative study

Journal of Pediatric Surgery ◽

10.1016/j.jpedsurg.2014.07.014 ◽

2015 ◽

Vol 50 (3) ◽

pp. 462-464 ◽

Cited By ~ 21

Author(s):

Marc Dirix ◽

Tine van Becelaere ◽

Lizanne Berkenbosch ◽

Robertine van Baren ◽

Rene M. Wijnen ◽

...

Keyword(s):

Comparative Study ◽

Malignant Transformation ◽

Sacrococcygeal Teratoma ◽

Currarino Syndrome

Download Full-text

Complete familial currarino triad in association with hirschsprung's disease: magnetic resonance imaging features and the spectrum of anorectal malformations

Acta Radiologica ◽

10.1080/02841850600598327 ◽

2006 ◽

Vol 47 (4) ◽

pp. 422-426 ◽

Cited By ~ 17

Author(s):

O. Kilickesmez ◽

I. Hakki Gol ◽

M. Uzun ◽

C. Oruk

Keyword(s):

Magnetic Resonance Imaging ◽

Magnetic Resonance ◽

Hirschsprung's Disease ◽

Hirschsprung’S Disease ◽

Anorectal Malformations ◽

Imaging Features ◽

Resonance Imaging ◽

Presacral Mass ◽

Currarino Syndrome ◽

Hereditary Condition

Currarino syndrome, a rare hereditary condition, is defined as a partial sacral agenesis associated with a presacral mass and anorectal malformation. The authors present two siblings with complete Currarino triad and their mother with incomplete triad. The complete Currarino triad in the older sibling was associated with Hirschsprung's disease as the second reported case in the literature. Anorectal malformations, whether suspected of Currarino syndrome or not, should be examined with lumbosacral magnetic resonance imaging.

Download Full-text

Currarino syndrome and spinal dysraphism

Journal of Neurosurgery Pediatrics ◽

10.3171/2014.3.peds13534 ◽

2014 ◽

Vol 13 (6) ◽

pp. 685-689 ◽

Cited By ~ 19

Author(s):

Matthew J. Kole ◽

Jared S. Fridley ◽

Andrew Jea ◽

Robert J. Bollo

Keyword(s):

Imperforate Anus ◽

Congenital Anomalies ◽

Rare Case ◽

Spinal Dysraphism ◽

Tethered Cord ◽

Tethered Cord Syndrome ◽

Presacral Mass ◽

Occult Spinal Dysraphism ◽

Spinal Lipoma ◽

Currarino Syndrome

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.

Download Full-text

Complete Currarino Syndrome Recognized in Adulthood

Journal of Clinical Imaging Science ◽

10.4103/2156-7514.152339 ◽

2015 ◽

Vol 5 ◽

pp. 10

Author(s):

Sinan Akay ◽

Bilal Battal ◽

Bulent Karaman ◽

Yalcin Bozkurt

Keyword(s):

Magnetic Resonance Imaging ◽

Magnetic Resonance ◽

Bone Defect ◽

Anorectal Malformation ◽

Imaging Findings ◽

Resonance Imaging ◽

Presacral Mass ◽

Currarino Syndrome ◽

Complete Form

Currarino syndrome is a hereditary pathology that is characterized by sacrococcygeal bone defect, presacral mass, and anorectal malformation. Sacrococcygeal bone defect is almost always a part of the syndrome. The complete form of this entity displays all three abnormalities and is very uncommon. In this report, we present the magnetic resonance imaging findings of a case with complete form of Currarino syndrome recognized in adulthood.

Download Full-text

Currarino Syndrome in a Fetus, Infant, Child, and Adolescent: Spectrum of Clinical Presentations and Imaging Findings

Canadian Association of Radiologists Journal ◽

10.1016/j.carj.2016.05.007 ◽

2017 ◽

Vol 68 (1) ◽

pp. 90-95 ◽

Cited By ~ 7

Author(s):

Pablo Caro-Domínguez ◽

Juan Bass ◽

Julie Hurteau-Miller

Keyword(s):

Clinical Presentation ◽

Clinical History ◽

Imaging Findings ◽

Presacral Mass ◽

Surgical Interventions ◽

Currarino Syndrome ◽

Pictorial Review ◽

Clinical Presentations ◽

The Subject ◽

Tract Infections

In 1981, Currarino et al described a triad of findings that consist of partial sacral dysgenesis, presacral mass (anterior meningocele, enteric cyst, or presacral teratoma) and anorectal malformation. Currarino syndrome exhibits variable expressivity and the clinical presentation tends to vary with the age of the subject such as spinal anomaly detected in the fetus, imperforate anus in the newborn, and intractable constipation or neurologic symptoms in the infant and older child. At any age, meningitis can be the presenting symptom and imaging is required for proper investigation. Meningitis, sepsis, urinary tract infections, and, rarely, malignant transformation of a teratoma are serious potential complications. This pictorial review describes the imaging findings, clinical history, surgical interventions, and genetic background in 5 children with this syndrome who presented in our hospital in the interval of 1 year.

Download Full-text

Neurosurgical management of Currarino syndrome: A case series and review of literature

Surgical Neurology International ◽

10.25259/sni-26-2019 ◽

2019 ◽

Vol 10 ◽

pp. 70

Author(s):

Alexander M. Tucker ◽

Peter Morgenstern ◽

Daniel Diaz ◽

Shaina Sedighim ◽

Donald Shaul ◽

...

Keyword(s):

Case Series ◽

Laparoscopic Approach ◽

Pediatric Neurosurgery ◽

Anorectal Malformations ◽

Surgical Approaches ◽

Dural Defect ◽

Presacral Mass ◽

Intraoperative Complication ◽

Currarino Syndrome ◽

Posterior Procedure

Background: The Currarino syndrome (CS), defined by the triad of anorectal malformations, sacral bone deformities, and presacral masses, is rare. There are few surgical series that discuss conservative management versus the surgical approaches to these lesions. Here, we describe utilizing a combined anterior and posterior approach for resecting these lesions in four patients. Methods: Four patients with CS were treated with two-stage approaches performed by a multidisciplinary team, including pediatric neurosurgery and general surgery. The first anterior laparoscopic approach mobilized the presacral mass from its ventral attachments. The second posterior procedure detethered the spinal cord, repaired the dural defect, and facilitated removal of the presacral mass. Results: Gross total resection of all four presacral masses was accomplished without intraoperative complication; all patients clinically improved. Conclusion: The CS is characterized by a large presacral mass. Here, one must rule out malignancy and also consider diagnosis/resection due to the risks for malignant transformation. The operative approach we described in four patients utilized standard anterior mobilization of the mass, followed by posterior detethering, dural repair, and ultimate resection.

Download Full-text