Currarino syndrome: report of five consecutive patients

Duru, Soner; Karabağlı, Hakan; Türkoğlu, Erhan; Erşahin, Yusuf

doi:10.1007/s00381-013-2274-6

Cited by 15 publications

(20 citation statements)

References 27 publications

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“…CNS: Presacral mass (anterior meningocele, dermoid cyst, or teratoma), tethered cord, holocordal syringomyelia, and intraspinal lipoma …”

Section: Glossarymentioning

confidence: 99%

“…CNS: Presacral mass (anterior meningocele, dermoid cyst, or teratoma), tethered cord, holocordal syringomyelia, and intraspinal lipoma. 356,357 Oculocerebrocutaneous syndrome (OMIM: 164180) General information: Characterized by the triad of eye, brain, and skin malformations. About 40 cases reported so far.…”

Section: Lowe Oculocerebrorenal Syndrome (Omim: 309000)mentioning

confidence: 99%

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Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Wagner

Poretti

Benson

et al. 2016

Journal of Neuroimaging

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Genetic skeletal disorders (GSDs) are a heterogeneous group characterized by an intrinsic abnormality in growth and (re-)modeling of cartilage and bone. A large subgroup of GSDs has additional involvement of other structures/organs beside the skeleton, such as the central nervous system (CNS). CNS abnormalities have an important role in long-term prognosis of children with GSDs and should consequently not be missed. Sensitive and specific identification of CNS lesions while evaluating a child with a GSD requires a detailed knowledge of the possible associated CNS abnormalities. Here, we provide a pattern-recognition approach for neuroimaging findings in GSDs guided by the obvious skeletal manifestations of GSD. In particular, we summarize which CNS findings should be ruled out with each GSD. The diseases (n = 180) are classified based on the skeletal involvement (1. abnormal metaphysis or epiphysis, 2. abnormal size/number of bones, 3. abnormal shape of bones and joints, and 4. abnormal dynamic or structural changes). For each disease, skeletal involvement was defined in accordance with Online Mendelian Inheritance in Man. Morphological CNS involvement has been described based on extensive literature search. Selected examples will be shown based on prevalence of the diseases and significance of the CNS involvement. CNS involvement is common in GSDs. A wide spectrum of morphological abnormalities is associated with GSDs. Early diagnosis of CNS involvement is important in the management of children with GSDs. This pattern-recognition approach aims to assist and guide physicians in the diagnostic work-up of CNS involvement in children with GSDs and their management.

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“…CNS: Presacral mass (anterior meningocele, dermoid cyst, or teratoma), tethered cord, holocordal syringomyelia, and intraspinal lipoma …”

Section: Glossarymentioning

confidence: 99%

Section: Lowe Oculocerebrorenal Syndrome (Omim: 309000)mentioning

confidence: 99%

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Wagner

Poretti

Benson

et al. 2016

Journal of Neuroimaging

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“…Fewer than 300 cases of ASM have been reported in literature. It may be associated with a variety of congenital disorders, most frequently the Currarino triad, consisting of congenital canal stenosis, scimitar sacrum and a presacral mass [3]. The onset of symptoms is usually in early adult life secondary to gradually increasing pressure on nearby pelvic structures resulting in urinary, bowel and obstetric problems.…”

Section: Discussionmentioning

confidence: 99%

A Rare Case of Anterior Sacral Meningocele (ASM) in a Young Patient

Gambhir

Winder

Owen

2016

OJMN

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We report a 24-year-old male who presented with abdominal distension, constipation and left sided groin pain. CT and MRI of the abdomen/spine were performed which showed a large anterior sacral meningocele occupying most of the pelvic and abdominal cavity and displacement of their respective contents. Initially a posterior approach with lumbosacral laminectomy (L5 -S4) was performed. The ostium of the meningocele was identified with several nerve roots identified passing through, adjacent and into the defect. As nerve roots traversed the ostium, watertight closure was not feasible without sacrificing nerve roots. Subsequent MRI demonstrated recurrence of approximately 60% of the anterior sacral meningocele. We therefore opted to approach the ASM anteriorly via an anterior approach with the help of colorectal surgical colleague. The ASM was completely embedded within the sigmoid and upper to mid rectal mesentry, with its own vascular supply to the thick walled capsule. This case highlights the need for a combined approach due to the incorporation of the pseudomeningocele into the omentum with the development of its own blood supply.

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“…ternal genital or uterine malformations, and various types of fistulas (rectoperineal, rectourethral, rectovestibular, rectocloacal, and neurenteric fistulas have all been described). 7,13,17 Currarino syndrome has a genetic basis, and in familial cases, inheritance is autosomal dominant with low penetrance. The homeobox gene motor neuron and pancreas homeobox-1 (MNX1, formerly HLXB9) is implicated in almost all familial cases and 30% of sporadic cases of CS.…”

mentioning

confidence: 99%

“…8,15 The typical sacral anomaly is a scimitar-shaped hemisacrum with sparing of the first sacral vertebra. 1,7,23 The most common anorectal malformations are anal stenosis, rectoperineal fistula, and imperforate anus, and in most cases the presacral mass is an anterior meningocele, a teratoma, or a combined pathology. 7,9,11,17,22 It is recognized that spinal dysraphism, while not an obligatory component of the syndrome, can be a feature of CS that may require neurosurgical intervention.…”

mentioning

confidence: 99%

Currarino syndrome: repair of the dysraphic anomalies and resection of the presacral mass in a combined neurosurgical and general surgical approach

Cearns¹,

Hettige²,

Coppi

et al. 2018

Journal of Neurosurgery: Pediatrics

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OBJECTIVEIt is well established that Currarino syndrome (CS) may be associated with spinal dysraphism. Here, the authors report on 10 CS patients with dysraphic anomalies who had undergone a combined neurosurgical and general surgical approach to repair the dysraphic anomalies and resect the presacral mass in a single operation. They discuss the spectrum of spinal dysraphism that may coexist in CS in the context of its developmental etiology.METHODSChildren with a confirmed CS diagnosis who had undergone the combined operative approach were identified from a departmental database. Presenting features were recorded and preoperative imaging was analyzed to record features of the presacral mass and the dysraphic anomalies. The histopathological nature of the resected presacral mass and the outcomes postoperatively and at the last follow-up were reviewed.RESULTSBetween 2008 and 2015, 10 patients presented with CS, 9 with constipation. Median age at the time of surgery was 1.3 years. Six of the 10 patients had anorectal malformation consisting of anal stenosis, rectal stenosis, or imperforate anus. Spinal anomalies included anterior meningocele (5 cases), low-lying conus (8), terminal syrinx (4), fatty filum (5), caudal lipoma (3), and intraspinal cyst (1). In all cases, the lumbosacral spinal canal was accessed via a midline approach with laminoplasty, allowing spinal cord untethering and repair of the dysraphic anomalies. Following dural closure, the incision was extended inferiorly to incorporate a posterior sagittal approach to resect the presacral mass. The histopathological nature of the mass was mature teratoma (8 cases), complex hamartomatous malformation (1), or neurenteric cyst (1). There were no new instances of neurological deterioration, with most instances of persisting morbidity related to constipation (6 cases) or neurogenic bladder dysfunction (8). There were no infective complications, no instances of cerebrospinal fluid fistula, no recurrences of the presacral mass, and no cases of retethering of the spinal cord.CONCLUSIONSAlthough not part of the original triad, spinal dysraphic anomalies are common in CS and in keeping with a disorder of secondary neurulation. Lumbosacral MRI is an essential investigation when CS is suspected. Children are at risk of sphincter impairment due to the anorectal malformation; however, both spinal cord tethering and compression from the presacral mass may further compromise long-term continence. A combined operative approach to repair the dysraphic anomalies and resect the presacral mass is described with good postoperative and long-term outcomes.

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Currarino syndrome: report of five consecutive patients

Cited by 15 publications

References 27 publications

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

A Rare Case of Anterior Sacral Meningocele (ASM) in a Young Patient

Currarino syndrome: repair of the dysraphic anomalies and resection of the presacral mass in a combined neurosurgical and general surgical approach

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