|Year : 2017 | Volume
| Issue : 1 | Page : 35-39
Currarino syndrome: Presacral tumor mimicking Hirschsprung disease
Yu-Wei Fu1, Yao-Jen Hsu2, Chin-Hung Wei3
1 Department of Surgery, Division of Pediatric Surgery, Changhua Christian Hospital, Changhua, Taiwan
2 Department of Pediatric Surgery, Mackay Memorial Hospital, Taipei, Taiwan
3 Department of Pediatric Surgery, Mackay Memorial Hospital, Taipei; Department of Medicine, Mackay Medical College, New Taipei City, Taiwan
|Date of Web Publication||28-Feb-2017|
No. 92, Section 2, Zhongshan N. Road, Zhongshan District, Taipei City 10449
Source of Support: None, Conflict of Interest: None
Background: A presacral tumor (PT) is a rare, congenital abnormality. PTs may present similarly to Hirschsprung disease (HD) in early infancy. Through this case report, we share our experiences regarding patients with a PT mimicking HD.
Materials and Methods: The medical records of patients with a PT at our hospital were retrospectively reviewed. The parameters investigated included age, sex, presentation, imaging findings, operation procedures, pathology, and bowel and bladder function outcomes.
Results: Three patients who were aged 38, 15, and 1.5 years at the latest follow-up were identified. All patients were initially diagnosed with HD; of these patients, one had concomitant anal stenosis. The patients individually received abdominal Duhamel, abdominal Soave, and transanal Soave procedures. PTs were incidentally found after pull-through through a laparotomy in two patients and imaged in one patient. All patients had sacral bone defects that were evident on plain radiographs. The PTs in two cases were separately excised through laparotomy and the posterior approach. Postoperative bowel dysfunction was noted in all patients and was treated with permanent colostomy and regular enemas and laxatives. Two of the three patients developed neuropathic bladders and subsequent upper urinary tract injury. Sexual dysfunction was noted in the adult patient.
Conclusions: PTs may mimic HD, delaying their diagnosis. Sacral dysgenesis evident on plain radiographs is the key to early detection. Long-term surveillance is imperative.
Keywords: Bladder dysfunction, bowel dysfunction, Currarino syndrome, Hirschsprung disease, presacral tumor, sacral deformity
|How to cite this article:|
Fu YW, Hsu YJ, Wei CH. Currarino syndrome: Presacral tumor mimicking Hirschsprung disease. Formos J Surg 2017;50:35-9
| Introduction|| |
Presacral tumors (PTs) are a rare congenital anomaly frequently accompanying hindgut abnormalities. Currarino syndrome has been known as the combination of a PT, sacral deformity, and anorectal malformations (ARMs) since 1981. Low-type ARMs (e.g. anal stenosis or funnel anus) are present in the majority of cases., Hirschsprung disease (HD) is also associated with this entity.,, For patients with distal rectal obstruction, PT and HD have similar manifestations in early infancy, such as abdominal distention, vomiting, enterocolitis, and constipation. The similarity can delay PT discovery.
Here, we report our experiences regarding patients with a PT that was not detected on the first presentation.
| Materials and Methods|| |
The medical records of the patients with a PT were retrospectively reviewed at our hospital. The parameters investigated included age, sex, presentation, imaging findings, operation procedures, pathology, and bowel and bladder functional outcomes.
| Results|| |
A total of three patients were included in this study. Their clinical courses are summarized in [Table 1] and are detailed as follows:
A 34-year-old man with HD had received Duhamel pull-through during infancy. He presented to the clinic with the complaint of long-term severe constipation occurring after surgery. Abdominal radiography revealed fecal impaction in the left colon. Contrast enema indicated a massively dilated colon with rectal obstruction [Figure 1]. Ileostomy was performed; however, another laparotomy was required because the initial laparotomy failed to remove fecalomas from the anus. A few months later, during a repeat reconstruction, a PT was incidentally encountered and was excised through the abdominal approach. The sigmoid colon was then pulled through. A sacral abnormality was detected on the radiographs. Pathology revealed that the distal end of the resected colon was hypoganglionotic, and the PT was a mature teratoma. Urine retention and sexual dysfunction were noted postoperatively. After 6 months, when the stoma was closed, the patient experienced constipation and abdominal distention with intermittent cramps. The patient frequently complained of fecal soiling. Because the bowel issues could not be addressed even with enemas, the decision was made to perform a permanent colostomy at the descending colon. Because of the massively dilated colon, the patient found it difficult to pass feces through the stoma. Enemas through the stoma were required to empty the colon.
|Figure 1: (a) Massively dilated left colon. (b) Distal rectal obstruction|
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Regarding voiding function, renal echo showed a trabeculated urinary bladder, marked postvoid residue, and a right low-positioned kidney. After PT excision, renal function considerably
deteriorated. Sexual dysfunction was also noted.
An 11-year-old boy presented to the clinic with the complaint of fecal incontinence. The patient had anal stenosis since birth. The contrast study revealed remarkable megarectosigmoid. Rectal suction biopsy at 3 cm above the dentate line revealed the absence of ganglion cells. Anal dilatation was initially performed, followed by sigmoid colostomy at the age of 4 months. During abdominal pull-through at the age of 8 months, a tumor was incidentally found in the presacral space but was not excised during surgery. A bifid sacrum was noted on plain radiographs. Pathology revealed aganglionosis at the distal end of the resected rectum. Subsequently, magnetic resonance imaging (MRI) revealed a presacral mass with cystic and fatty components.
The patient had poor bowel control and complained of constant soiling every day with perianal skin excoriation. Contrast enema depicted a short and narrowing left colon, indicating colonic hypermotility [Figure 2]. Daily enemas and loperamide were required to maintain social continence. Nevertheless, the patient still occasionally complained of fecal accidents and soiling. The patient received spinal cord detethering at the age of 12 years, but the tumor was left untreated because of the family's hesitation. Renal echo revealed that both kidneys were positioned low. Video-urodynamic study revealed preserved bladder function.
|Figure 2: Lateral view of contrast enema showing a short and narrowing colon, particularly at the rectum (arrow)|
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A female newborn presented with abdominal distention since birth. Contrast enema showed a dilated sigmoid colon with distal rectum obstruction [Figure 3]. Rectal suction biopsy revealed aganglionosis, a scant nerve plexus, and normal acetylcholinesterase activity. Transanal endorectal pull-through was accomplished with uneventful recovery. An abdominal radiograph obtained when the patient was readmitted for enterocolitis revealed a bifid sacrum. MRI illustrated a PT with solid and cystic components [Figure 4]. Excision of the PT was accomplished through the posterior sagittal approach at the age of 2 months. Cerebrospinal fluid leaked from the thecal sac where the tumor was attached. The dural defect was repaired with a collagen matrix (DuraGen) and tissue glue. Pathology revealed mature cystic teratoma. At the latest follow-up at the age of 1.5 years, laxatives were required for regular bowel movement. Compared with normal preoperative findings, renal echo showed thickening of the bladder wall with left-side hydronephrosis, indicating a neuropathic bladder.
|Figure 3: Lateral view of contrast enema showing a short and narrowing colon, particularly at the rectum (arrow)|
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|Figure 4: T2-weighted magnetic resonance image. The blue arrow indicates the rectum with a rectal tube inside. The red arrow indicates a mass with solid and cystic components between the rectum and the sacrum|
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| Discussion|| |
Although PTs have been recognized as a part of Currarino syndrome for more than 30 years, diagnosing them on the first presentation is still a challenge. Because PTs are occult lesions that do not appear on the body surface, they can be misdiagnosed as merely low-type ARMs, HD, or both. Failure to detect the presence of a PT may lead to repeated procedures and complicated clinical courses. A plain radiograph of the sacrum is the first diagnostic step proposed for Currarino syndrome. In this study, from the sacral abnormalities noted on the radiographs, the presence of a mass was suspected in the presacral space [Figure 5].
|Figure 5: (a) Hemisacrum (case 1). (b and c) Bifid sacrum (cases 2 and 3, respectively)|
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Compared with ARMs, HD alone with a PT is less discussed. In addition to their similar manifestations, the pathology from rectal biopsies can be confusing between HD and PTs. Aganglionosis with increased acetylcholinesterase activity and hypertrophic nerves is typical in HD, whereas patients with a PT can present with absent ganglion cells but a range of enzyme activity and nerve bundles. A transition zone on contrast enemas is essential for diagnosing HD. However, unlike the smooth narrowing colonic lumen in a typical transition zone, an abrupt transition zone on the distal rectum is observed for the presacral mass [Figure 1]b and [Figure 3]. MRI is the preferred imaging modality to confirm the presence of the tumor and its components. The majority of the pathology has been reported to be benign, including teratomas, dermoid cysts, lipomyelomeningocele, and mixed tumors.,
The necessity of PT excision is debatable. Dirix et al. stated that none of 14 patients aged between 51 days and 27.4 years with Currarino syndrome had an excised presacral teratoma with malignant transformation. This study demonstrated a low risk of malignant transformation for PTs, concluding that surgical treatment may be unnecessary. By contrast, numerous studies have documented presacral malignancies presenting with a primary nonexcised tumor or recurrence in both adulthood and childhood. Meningitis is related to this entity., A nonexcised PT may increase in size, persistently compressing the rectum. The evidence indicates that surgery is essential to prevent potential disastrous consequences.
The posterior sagittal approach has been advocated for PTs and is associated with several advantages., First, because PTs may be connected to the spinal canal, cerebrospinal fluid is prone to leakage during tumor excision. The posterior sagittal approach is helpful in detecting the defect and repairing it immediately. Therefore, it is advisable that PT excision be performed in collaboration with a neurosurgeon. Second, because of the occurrence of distal rectal obstruction caused by extrinsic tumor compression or the aganglionotic rectum, resection or proctoplasty can be performed simultaneously. Resection of the aganglionotic segment should be conservative. Extensive pull-through may create a hypermotile colon. Patients with PTs are susceptible to poor sphincter control because of defective sacral innervation. The combination of colonic hypermotility and poor sphincter control makes the management of incontinence more difficult.
In this case series, all three patients had significant bowel dysfunction. A later diagnosis results in poorer bowel function. In case 1, the extrinsic tumor compression to the rectum contributed to long-term constipation and subsequent megacolon. The patient could not have regular bowel movement even after PT excision and stoma creation because the bowel was massively dilated and became atonic. In case 2, the hypermotile colon made the maintenance of social continence challenging. In case 3, constipation occurred soon after surgery but could be addressed with laxatives. Congenital disorder of bowel motility and sphincters contributes to bowel dysfunction. Early detection and bowel management are essential to minimize complications and improve quality of life.
Voiding function in patients with PTs has rarely been reported until recently., Pio et al. reported that only 2 of 16 patients (12.5%) with a presacral mass developed neuropathic bladders. In this study, bladder function was negatively altered after PT excision, causing hydronephrosis (cases 1 and 3) and elevated creatinine levels (case 1). In case 2, which did not receive PT excision yet, bladder function was preserved. Erectile dysfunction was noted in case 1. During surgery, the sacral innervation may be damaged to various degrees, impairing bladder and sexual functions. The patient and the family should be fully informed about the possibility of sequelae. Bladder function should be closely monitored and managed to prevent upper urinary tract injury.
| Conclusion|| |
Early detection of sacral deformities or a presacral mass by paying attention to the sacrum on a regular plain radiograph is the key to diagnosing PT s and avoiding unnecessary surgery. Physicians should be alert to atypical HD pathologic findings of rectal biopsies. Long-term surveillance is imperative for bowel function, bladder function, sexual function, and tumor recurrence.
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Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]