CASE REPORT
Combined Neurosurgical and Gastrointestinal Surgical Approach Using Omental Flap for Adult Currarino Syndrome: A Case Report
2026 年 13 巻 p. 295-299
詳細
2026 年 13 巻 p. 295-299
Currarino syndrome is a rare congenital disorder characterized by a triad of sacral agenesis, presacral mass, and anorectal malformation. Although it is typically diagnosed in infancy or childhood, adult presentation is rare and poses unique diagnostic and surgical challenges. We present the case of a 45-year-old woman diagnosed with Currarino syndrome during pregnancy after incidental discovery of a presacral mass associated with tethered spinal cord and sacral agenesis. Over time, the mass enlarged, causing rectal obstruction and abdominal pain. A combined neurosurgical and gastrointestinal surgical approach was used to perform tethered cord release and mass resection without cerebrospinal fluid leakage, owing to autologous omental flap placement. There were no postoperative complications except for transient urinary retention and numbness in the left foot. Adult cases of Currarino syndrome require individualized, multidisciplinary surgical management. A combined neurosurgical and gastrointestinal surgical approach, incorporating preventive techniques such as autologous omental flap placement, can result in favorable outcomes with minimal complications.
Currarino syndrome is a rare congenital disorder first described by Currarino et al.1) in 1981. It is characterized by a classical triad of partial sacral agenesis, presacral mass, and anorectal malformation.1) The syndrome is often inherited in an autosomal dominant pattern, and is linked to mutations in the MNX1 gene located on chromosome 7q36, a homeobox gene critical for caudal embryonic development.2-4)
Most cases are diagnosed during infancy or childhood, typically presenting with symptoms such as chronic constipation, anorectal anomalies, or mass effect from a presacral lesion,5) which is often a teratoma, anterior meningocele, or dermoid cyst.6) However, a subset of patients remains undiagnosed until adulthood,7) often presenting with progressive symptoms caused by mass enlargement or spinal cord tethering. Adult presentations pose diagnostic and therapeutic challenges due to delayed recognition, complex anatomy, and altered tissue planes from prior surgeries or chronic pathological changes.
Herein, we report a rare adult case of Currarino syndrome presenting with a symptomatic presacral mass and tethered cord, successfully managed using a combined neurosurgical and gastrointestinal (GI) surgical approach. This case highlights the importance of multidisciplinary management and surgical strategies to prevent complications such as cerebrospinal fluid (CSF) leakage.
A 45-year-old woman presented to the emergency department with progressive lower abdominal pain and worsening constipation. At age 27, she was diagnosed with Currarino syndrome during her second pregnancy, based on the incidental finding of a well-circumscribed presacral mass about 5 cm in size, along with a fatty filum terminale associated with a low-lying conus medullaris (Figure 1a). Given her minimal symptoms, she was initially managed conservatively. Over the subsequent years, the patient experienced progressive constipation and abdominal discomfort. At age 45, magnetic resonance imaging (MRI) and computed tomography (CT) revealed enlargement of the presacral mass, causing mechanical compression of the rectum; sacral hypoplasia was also observed (Figure 1b-d). Neurological examination showed no motor or sensory deficits in the lower extremities. However, urodynamic studies indicated borderline bladder compliance without subjective urinary symptoms. Family history was notable for her second daughter also being diagnosed with Currarino syndrome, suggesting familial inheritance, although genetic testing was not performed. The daughter underwent repair of a presacral lipoma during her infancy.
(a) Sagittal T2-weighted MRI at age 27 showing a presacral mass and a low-lying conus with tethered cord. (b) Sagittal T2-weighted MRI at age 45 demonstrating enlargement of the presacral mass (*) to approximately 10 cm in diameter. (c) Preoperative schematic illustration showing the enlarged presacral mass (arrow). (*) indicates the urinary bladder and (**) indicates an ovarian cyst. (d) Three-dimensional reconstructed CT image showing sacral dysplasia. (e) Postoperative sagittal T2-weighted MRI at one week. The arrowhead indicates the omentum used for dural repair. (f) Postoperative schematic illustration showing dural reconstruction with an autologous omental flap (arrowhead) after resection of the presacral mass. (*) indicates the urinary bladder and (**) indicates an ovarian cyst. (g) Postoperative sagittal T2-weighted MRI at 1.5 years, showing that the presacral mass had enlarged but exhibited no further growth.
CT: computed tomography; MRI: magnetic resonance imaging
Given the progressive symptoms caused by both the enlarging presacral mass and the tethered spinal cord, a surgical plan was developed involving neurosurgery and GI surgery. The neurosurgical team first performed a midline lumbosacral laminectomy. The filum terminale was attached to the mass through the anterior dural defect. After transection of the filum terminale and dural closure, posterior part of the mass was dissected from surrounding tissue and resected as much as possible from posterior side. Subsequently, the patient was repositioned to the supine position, and the GI surgical team accessed the presacral space via a lower midline abdominal incision to remove the mass. Dense adhesions from prior cesarean section and chronic inflammation complicated the dissection. The mass was carefully separated from surrounding structures, including the rectum and pelvic vessels. Major bleeding occurred primarily during the anterior dissection because the tumor capsule was firmly adherent to branches of the internal iliac vessels and the presacral venous plexus. In such cases, meticulous hemostasis and preparation for massive transfusion are essential. To prevent postoperative CSF leakage, an autologous omental flap was harvested and placed over the sutured dura, covering the dural defect without additional fixation such as suturing (Figure 1e and f). The total operative time was 16 hours and 24 minutes, with an estimated intraoperative blood loss of 4,970 mL.
Postoperatively, the patient developed transient urinary retention and left lower extremity sensory disturbance. These symptoms resolved within a few weeks with conservative management. Histopathological examination confirmed the mass to be a teratoma. Follow-up MRI 6 months later revealed recurrence of the teratoma; however, no further tumor growth has been observed over 3 years of follow-up. The patient is scheduled to undergo careful follow-up with an annual MRI (Figure 1g). The patient reported complete resolution of her preoperative bowel symptoms. Although MNX1 genetic testing was not performed at the time of treatment, genetic testing is currently being considered for the patient and her family members.
Consent for publication was obtained from the patient.
This case describes a 45-year-old woman with Currarino syndrome who presented with progressive constipation and abdominal pain caused by an enlarging presacral mass and a tethered spinal cord. She was successfully treated with a combined neurosurgical and GI surgical approach.
The surgical approach to presacral tumors is typically determined by tumor location: an anterior approach is preferred for lesions located above the S3 level, a posterior approach for those below S3, and a combined approach is used for large or complex lesions.8) Various surgical strategies have been reported, including anterior, posterior, and combined approaches, each with specific advantages and limitations (Table 1). The posterior approach provides direct access for spinal cord detethering and facilitates secure dural closure; however, it may limit access to anterior components of the mass. In contrast, the anterior approach offers better exposure of the presacral space, facilitating mass resection, but makes cord untethering and dural closure technically difficult. The combined approach effectively addresses both spinal and presacral components, but is associated with longer operative time and increased surgical invasiveness.
Summary of the Advantages and Disadvantages of Different Surgical Approaches for Currarino Syndrome
| Approach | Advantages | Limitations | Indications |
|---|---|---|---|
| Posterior | Allows spinal cord untethering | Limited access to anterior tumors; restricted working space | Small tumors; cases requiring untethering |
| Anterior | Direct access to the tumor; can address gastrointestinal anomalies | Impossible to perform untethering; difficult dural closure | Large tumors; anorectal malformations; history of abdominal surgery |
| Combined | Enables both tumor removal and untethering; safe with specialist collaboration | Longer operative time | Large tumors with spinal cord tethering; recurrent or adult cases |
Table 2 summarizes the clinical features and management strategies of previously reported adult cases of Currarino syndrome,9-13) including this case. Ages ranged from 30 to 58 years, with a wide variety of presacral mass and spinal cord anomaly. Three patients were treated using a posterior approach, while the remaining three underwent a combined surgical approach. A key concern in presacral mass resection, particularly in the presence of dural defects, is the prevention of CSF leakage, a serious and potentially persistent complication. A combined approach with GI surgeons allows for safe and effective access to the presacral region.9,10) In our case, an autologous omental flap was used to cover the dural defect and to reinforce the surgical site. This technique has proven effective in reducing the risk of postoperative CSF leakage. Omental grafts have been effectively utilized for dural repair in skull base surgeries and spinal tumor resections.14-16) In procedures such as this case, the omentum can be employed as a pedicled flap, providing a well-vascularized and reliable method for dural defect coverage.
Summary of Previously Reported Adult Cases of Currarino Syndrome Requiring Surgery
| Author, year | Age, sex | Symptoms | Presacral mass | Spinal cord anomaly | Operative approach | Dural reconstruction | Complications |
|---|---|---|---|---|---|---|---|
| F: female; GI: gastrointestinal; M: male | |||||||
| Verma et al. (9), 2023 | 30, M | Chronic constipation, weakness, tiredness, fatigue, and severe anemia | Meningocele | Meningocele | Combined posterior + GI approach | Primary closure | None |
| Chakhalian et al. (10), 2017 | 36, F | Intermittent constipation, and bilateral L4-L5 radiculopathy | Meningocele | Meningocele | Combined posterior + GI approach | Primary closure | None |
| Emoto et al. (11), 2018 | 44, M | Progressive chronic constipation | Large teratoma | Meningocele | Posterior | Not mentioned | None |
| Kansal et al. (12), 2012 | 45, F | Low back pain, and episodes of fever, headache, and vomiting | Meningocele with epidermoid | Tethered cord (low-lying conus at L3) | Posterior | Primary closure | None |
| Haga et al. (13), 2003 | 58, F | Recurrent back pain and fever (meningitis) and mild vesicorectal dysfunction | Meningocele with epidermoid cyst | Meningocele | Posterior | Primary closure at cyst neck | None |
| Present case | 45, F | Progressive constipation and abdominal pain | Teratoma | Tethered cord, low-lying conus | Combined posterior + GI approach | Primary closure with omental reconstruction | Transient urinary retention and left leg numbness |
Adult cases often present with complicating factors such as adhesions from previous abdominal surgeries, more advanced sacral ossification, and subtler neurological symptoms compared to pediatric cases. These factors increase the technical difficulty and elevate the risk of perioperative complications. A multidisciplinary approach combining tethered cord release with presacral mass resection is an effective and safe strategy for managing this complex condition. The use of an autologous omental flap appears to be beneficial in preventing CSF leakage and supporting secure surgical repair.
We thank Alexander Zaboronok, assistant professor of the Department of Neurosurgery, University of Tsukuba, for professional and language revision.
All authors have no conflict of interest.
IRB approval for a case report is waived at the Tsukuba University Hospital.
Informed consent was obtained from the patient for the publication of this case report and the accompanying images.
