|Year : 2017 | Volume
| Issue : 4 | Page : 1257-1259
Late presentation of the Currarino triad in a 7-year-old female child
Aditya P Singh, Vinay M Mathur, Dinesh K Barolia, Arun K Gupta
Department of Pediatric Surgery, SMS Medical College, Jaipur, Rajasthan, India
|Date of Submission||27-Apr-2017|
|Date of Acceptance||23-Aug-2017|
|Date of Web Publication||04-Apr-2018|
Aditya P Singh
Near The Mali Hostel, Main Bali Road, Falna, Dist-Pali, Rajasthan
Source of Support: None, Conflict of Interest: None
Currarino triad is a rare clinical condition. The Currarino triad refers to a specific malformation complex characterized by three main features – congenital anorectal stenosis (or any type of low anorectal malformation), anterior sacral defect, and a presacral mass that may be a meningocoele/a teratoma/an enteric cyst or a combination thereof. We are presenting here a case of late presentation of the Currarino triad in a 7-year-old female child.
Keywords: constipation, Currarino, late, triad
|How to cite this article:|
Singh AP, Mathur VM, Barolia DK, Gupta AK. Late presentation of the Currarino triad in a 7-year-old female child. Menoufia Med J 2017;30:1257-9
|How to cite this URL:|
Singh AP, Mathur VM, Barolia DK, Gupta AK. Late presentation of the Currarino triad in a 7-year-old female child. Menoufia Med J [serial online] 2017 [cited 2020 Feb 17];30:1257-9. Available from: http://www.mmj.eg.net/text.asp?2017/30/4/1257/229216
| Introduction|| |
The Currarino triad is a rare genetic anomaly resulting from abnormal separation of the neuroectoderm from the endoderm. Approximately 250 cases have been reported since it was first described in 1981. Patients with this disorder usually present with constipation and characteristic radiological findings. Early diagnosis is vital for improving patient prognosis and quality of life. We are presenting here a case of a female child at the age of 7 years with a history of constipation. She has a known case of vestibular fistula and completed all stages at the age of 10 months.
| Case Report|| |
A 7-year-old female pres ented to us with a history of constipation for the past 6 months. She has a known case of vestibular fistula, and all three stages were completed at the age of 1 year. Postoperative period was uneventful with normal bladder and bowel habits. She had taken laxative and other conservative treatment for constipation, but constipation could not be relieved. Though rectal examination revealed a loaded colon, rectal sphincter tone was found to be normal. Routine blood investigations were in normal limits including thyroid function test and serum electrolytes. Physical examination revealed an ill-defined mass in the suprapubic region.
Then the patient had an ultrasound scan which showed a large highly reflective mass seen occupying the pelvic region (fecolith) with mid-right hydroureteronephrosis, likely owing to ureteric compression. Radiograph of the pelvis including the sacrum showed sacral defect as scimitar sacrum [Figure 1]. A contrast-enhanced computed tomography of the abdomen showed presacral cystic lesion, likely sacral meningocele [Figure 2]. It showed presence of scimitar sacrum, a large homogenous bilocular thin-walled cystic lesion (61 × 59 × 51 mm) seen in presacral space behind the anorectum communicating to spinal canal, associated anal stenosis likely owing to extrinsic compression of anal canal by cyst with rectal dilatation and impacted fecolith. There was also extrinsic compression and splaying of bilateral lower pelvic ureters by loaded rectum with gross bilateral hydroureteronephrosis and anteriorly placed urinary bladder with sacral spina bifida. Patient was lost to follow-up owing to financial reason.
|Figure 1: Radiographic sacrum anteroposterior and lateral-scimitar sacrum.|
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|Figure 2: Contrast-enhanced computed tomography images (a and b) anterior meningocoele, dilated rectum with fecolith.|
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| Discussion|| |
Currarino syndrome (CS) is a rare clinical condition that was described by Currarino and colleagues in 1981. The classical presentation includes a triad of sacral anomaly, anorectal malformation, and presacral mass. This syndrome belongs to the group of persistent neuroenteric malformations. Currarino triad occurs in ~1 in 100 000 people. Anterior sacral meningoceles are the most common presacral mass in patients with CS, occurring in 60% of patients, and its presence may affect the surgical management of these patients,.
CS develops from the failure of separation of the caudal cell mass from the hindgut endoderm dorsoventrally. Secondarily, neurulation and maldevelopment of the cloaca results in occult dysraphic malformations and anorectal anomalies. Mesenchymal maldevelopment, which surrounds the spinal cord and notochord, produces a spectrum of sacral anomalies. Dural primordial anomalies give rise to anterior sacral meningocele. On the basis of these developmental aberrations, CS has got a wide spectrum of clinical presentation.
CS is an autosomal dominant disorder and the result of mutations in the homeobox gene HLXB9 on chromosome 7,. However, a genotype-phenotype correlation has not been reported. Currarino and colleagues in their review suggested that this triad may be familial, with autosomal dominant inheritance and variable penetrance. Many patients show an asymptomatic hemisacrum without any other life-threatening complications; one-third of the patients with CS are asymptomatic and may be diagnosed late in life. Clinically these lesions occur equally in both sexes in childhood, but a female preponderance is seen in adults. Our case was also diagnosed at the age of 7 years.
The lesion may remain asymptomatic or be manifested by nonspecific symptoms such as constipation and urinary or reproductive symptoms owing to local pressure effect. Pressure on nerve roots may lead to sciatica, decreased detrusor and rectal tone, and paresthesia in the lower sclerotomes. In pregnancy, it may lead to dystocia during labour. Meningitis is a rare but important complication usually occurring secondary to iatrogenic manipulation of the sac or more infrequently, owing to pressure erosion of the anterior sacral meningocoele into the rectum. A tethered cord is associated with meningitis, one of the potentially lethal complications of CS. A mortality of 30% has been reported in cases managed without surgery.
The most frequent findings of the triad include a sacrococcygeal defect, which can be categorized as total sacral agenesis or a partial asymmetric deformity like a hemisacrum with 'scimitar' or 'sickle' shape. This sacral deformity is widely believed to always be present in cases of Currarino triad; thus, we propose that pelvic radiographs could be used as an initial screening tool. A presacral mass is another component of the triad and may include anterior meningoceles (most frequent), teratomas, enteric cysts, dermoid or epidermoid cysts, lipomas, hamartomas, or rectal duplications. Anorectal malformations are the final diagnostic characteristic and include anorectal stenosis with or without a blind-ending fistula, anal atresia or ectopia, imperforate anus, and cloacal anomalies. Other manifestations include urogenital system malformations such as horseshoe kidneys, sigmoid kidneys, single pelvic kidney, neurogenic bladders, multicystic kidneys, vesicouretral reflux, and partial or complete duplication of the vagina, clitoris, or uterus,
Intraspinal anomalies include spinal cord tethering, hydrofilum, intraspinal lipoma, and hydrocephalus. There are incomplete forms of CS with absence of one or two characteristics, particularly in relatives of patients with CS. The percentage of patients with a family history of triad-associated anomalies has been reported to be as high as 56.9%. We suggest that first-degree relatives should be offered a pelvic radiograph as a relatively inexpensive screening test as cases can be asymptomatic and unrecognized until adulthood. However, 80% of cases are diagnosed before the age of 16 years. A presacral mass has been observed in 92–100% of patients with CS,. The reported incidence of tethered cord with CS is variable (14–57%).
The imaging approach includes radiographs, MRI, and ultrasound. An abdominal radiograph is often obtained initially and can detect the sacral defect, which raises concern about the syndrome in patients with unexplained severe constipation, especially in combination with anal anomalies. Constipation is the most common symptom. Our case also had constipation. Pelvic and spinal MRI is mandatory for evaluation of the presacral mass and to detect a probable associated intraspinal anomaly. For completeness, ultrasound is suggested as the modality of choice to screen for associated urogenital anomalies. Computed tomography is useful to visualize the sacral agenesis component as well as the cyst and associated tumor, if any.
Management of CS depends on the existence of a presacral mass, an anorectal malformation, and a fistula between the colon and spinal canal. Various therapeutic strategies have been reported ,,. Surgical treatment of a presacral mass may involve a posterior sagittal approach, a sacral laminectomy, or an anterior abdominal approach when the presacral mass is too large. The posterior sagittal approach with or without anorectoplasty has been reported as the best method of treating an anorectal malformation with the simultaneous excision of the presacral mass. For an anterior sacral meningocele, dural ligation of the neck of the meningocele is generally performed.
To deal with these malformations, posterior sagittal anorectoplasty is the best approach.
Conservative treatment may be considered only in small lesions in males with no associated tumors. Surgical management is recommended in all other cases as there is no possibility of spontaneous regression. Proper recognition of the characteristic imaging findings can lead to an early diagnosis and improve patient prognosis and quality of life.
| Conclusion|| |
Owing to rarity and varied presentation of the CS, there is always chance to miss the diagnosis at initial workup for anorectal malformation. It is always advisable to be suspicious when hemisacral anomaly is found on plain radiographic film. Necessary measures must be taken to rule out the diagnosis of CS. Otherwise, it may pose significant problem to both the patient and surgeon.
This study was supported by Dr. Annu Bhandari, Radiologist, Senior professor, SMS Medical College, Jaipur.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2]