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

Abstract

<jats:sec><jats:title>OBJECTIVE</jats:title><jats:p>It 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.</jats:p></jats:sec><jats:sec><jats:title>METHODS</jats:title><jats:p>Children 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.</jats:p></jats:sec><jats:sec><jats:title>RESULTS</jats:title><jats:p>Between 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.</jats:p></jats:sec><jats:sec><jats:title>CONCLUSIONS</jats:title><jats:p>Although 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.</jats:p></jats:sec>

Partial Currarino Syndrome in Adulthood Mistaken for a Simple Presacral Mass

“…[10] Inheritance of Currarino's syndrome is autosomal dominant in familial cases, and the homeobox gene motor neuron and pancreas homeobox-1 (MNX1) is implicated in almost all familial cases and in almost 30% of sporadic cases. [2] Cearns et al reported 10 cases of CS patients with dysraphic anomalies and noticed that constipation was the most common presenting symptom (90%). It may be associated with urinary dysfunction, lower limbs weakness and/or sacral swelling.…”

“…It may be associated with urinary dysfunction, lower limbs weakness and/or sacral swelling. [2] This association of constipation, sacral bony defect and a presacral mass, alongside with incomplete Currarino's syndrome is diagnosed later in life in only 19-20%; whereas the complete form with anal stenosis is diagnosed before the age of 10 in more than 80%. This is mainly explained by the severity of the triad in early childhood in the complete form [7].…”

“…But MRI surely remains the best imaging tool due to its ability to detect specifically the anorectal malformations and spinal anomalies, without ionizing radiation exposure. [2,6] Surgery remains the treatment of choice for these patients, mainly for fear of malignant degeneration of the presacral mass, and because conservative management with laxatives and anal dilatation are not satisfactory. [7] Multiple approaches have been described: staged posterior sagittal anorectoplasty and repair of anterior mass, a trans-sacral approach for the presacral mass, and a combined anterior and posterior approach.…”

“…[7] Multiple approaches have been described: staged posterior sagittal anorectoplasty and repair of anterior mass, a trans-sacral approach for the presacral mass, and a combined anterior and posterior approach. However, in the study of Cearns et al [2], a combined neurosurgical and general surgical approach was performed in a single operation in all 10 patients. Spinal surgery was done through a posterior midline incision and presacral mass was resected through a trans-perineal approach, with a diverting colostomy in 4 patients.…”

“…[1] Other pathologies may also be associated; these consist of spinal dysraphism, spinal cord tethering, renal/ureteral anomalies, female internal genital or uterine malformations and various types of fistulas. [2] Due to the variable phenotypical presentations of the gene mutation causing this triad, symptoms vary substantially. [3] The syndrome is diagnosed during childhood most of the times; that is mainly due to imperforation of anus.…”