Figure 1
Ultrasound
Pelvic ultrasound image showing a presacral mass that is anechoic and well-delimited between the rectum in the front and the sacrum in the back.
Currarino syndrome in a 10-month-old infant
SectionPaediatric radiology
Case TypeClinical Cases
AuthorsImen Menif1, Hela Louati1, Lilia Ben Hassine1, Lilia Lahmar1, Wiem Douira1, Ines Ammar1, Nada Sghairoun2, Mourad Hamzaoui2, Ibtissem Bellagha1
Connected authors
10 months, female
Clinical History
We present the case of a 10-month-old female patient with history of constipation since the age of 4 months. There was no delay in passing meconium in the neonatal period.
A physical examination showed a distended abdomen and anal stenosis on rectal examination.
A physical examination showed a distended abdomen and anal stenosis on rectal examination.
Imaging Findings
An abdominal radiograph showed a defect in the sacrum (Fig. 1).
A contrast enema was performed, which demonstrated anorectal stenosis with an increase in the distance between the rectum and sacrum. The rectum was displaced anteriorly (Fig. 2).
An ultrasound examination revealed an anechoic presacral mass (Fig. 3).
An MRI was undertaken to further define the pelvic mass lesion, which communicated with the dural sac. Appearances were consistent with an anterior meningocele (Fig. 4).
The infant underwent resection of the anterior meningocele with dilatation of the anal stenosis. After surgery, constipation improved. Neurological examination remained normal.
A contrast enema was performed, which demonstrated anorectal stenosis with an increase in the distance between the rectum and sacrum. The rectum was displaced anteriorly (Fig. 2).
An ultrasound examination revealed an anechoic presacral mass (Fig. 3).
An MRI was undertaken to further define the pelvic mass lesion, which communicated with the dural sac. Appearances were consistent with an anterior meningocele (Fig. 4).
The infant underwent resection of the anterior meningocele with dilatation of the anal stenosis. After surgery, constipation improved. Neurological examination remained normal.
Discussion
Currarino syndrome (or triad) is a rare condition, which has various clinical presentations. In some cases it is inherited in an autosomal dominant fashion [1]. The condition was first described in The Lancet as early as 1837 [2], but it was only in 1981 that the radiologist Currarino and his colleagues published the work that led to common usage of the term Currarino syndrome [3]. About 50 to 60% of the reported cases have a family background of these anomalies [4, 5]. The disease is caused by an autosomal dominant genetic disorder consisting of the mutation in the HLXB9 gene.
Currarino triad is known as the combination of anorectal malformation, presacral mass and anterior sacral defect [3, 4]. The presacral mass may consist of a teratoma, a meningocele or an enteric cyst [6]. The mass may remain asymptomatic, but it can also considerably increase in size and exert mass effect on the pelvic organs causing variable manifestations like chronic constipation, rectal fullness, pelvic pain or dysuria [5].
Chronic constipation is the main symptom in these patients. Other signs and symptoms may consist of bowel obstruction in neonates, perianal infections, internal genital anomalies in women, tethered spinal cord and urinary tract disorders [1].
Most often, an anterior sacral defect is identified. The first sacral vertebra is usually preserved but it may show subtle anomalies. The defect usually takes the form of a crescent-shaped deformity of the hemisacrum, which is called the “scimitar sign” [2].
Multimodal imaging including plain radiographs, bowel enema and ultrasound examination are the key for the diagnosis of Currarino syndrome. Magnetic resonance imaging is a useful imaging modality when surgical resection of the presacral mass is planned [2].
Currarino triad is known as the combination of anorectal malformation, presacral mass and anterior sacral defect [3, 4]. The presacral mass may consist of a teratoma, a meningocele or an enteric cyst [6]. The mass may remain asymptomatic, but it can also considerably increase in size and exert mass effect on the pelvic organs causing variable manifestations like chronic constipation, rectal fullness, pelvic pain or dysuria [5].
Chronic constipation is the main symptom in these patients. Other signs and symptoms may consist of bowel obstruction in neonates, perianal infections, internal genital anomalies in women, tethered spinal cord and urinary tract disorders [1].
Most often, an anterior sacral defect is identified. The first sacral vertebra is usually preserved but it may show subtle anomalies. The defect usually takes the form of a crescent-shaped deformity of the hemisacrum, which is called the “scimitar sign” [2].
Multimodal imaging including plain radiographs, bowel enema and ultrasound examination are the key for the diagnosis of Currarino syndrome. Magnetic resonance imaging is a useful imaging modality when surgical resection of the presacral mass is planned [2].
Differential Diagnosis List
Currarino syndrome
VATER syndrome
Caudal regression syndrome
Final Diagnosis
Currarino syndrome
References
[1] Lynch SA, Wang Y, Strachan T et al (2000) Autosomal dominant sacral agenesis: Currarino syndrome. J Med Genet 37: 561 – 6. (PMID: 10922380)
[2] Bryant T (1837) Case of deficiency of the anterior part of the sacrum, with a thecal sac in the pelvis, similar to the tumour of spina bifida. Lancet 1: 258-360
[3] Currarino G, Coln D, Votteler T (1981) Triad of anorectal, sacral, and presacral anomalies. AJR 137:395-8. (PMID: 6789651)
[4] Thambidorai CR, Muin I, Razman J, Zulfiqar A (2003) Currarino triad with dual pathology in the presacral mass: report of a case. Dis Colon Rectum 46(7):974-7 (PMID: 12847376)
[5] Gardner PA, Albright AL (2006) \"Like mother, like son:\" hereditary anterior sacral meningocele. Case report and review of the literature. J Neurosurg 104(2 Suppl):138-42. (PMID: 16506502)
[6] Djordjevic I,Jovanovic D,Grujic B (2011) Currarino Syndroma, initially misdiagnosed and treated like megacolon congenitum. Central European Journal of Medicine 6(6):723-26
Case information
| URL: | https://www.eurorad.org/case/12465 |
| DOI: | 10.1594/EURORAD/CASE.12465 |
| ISSN: | 1563-4086 |
Figure 2
Abdominal radiogram
Abdomen X-ray showing a marked scimitar defect in the sacral bone.
Figure 3
Barium enema
Anal stenosis with increase of the distance between the rectum and the sacral bone. The rectum is displaced forward. A bone defect of a part of the sacrum is also noted.
Figure 4
Magnetic resonance imaging
Sagittal (a) and axial (b) T2-weighted imaging showing a presacral mass originating from the dural sac. The mass has the signal of cerebrospinal fluid.
Note that the anterior meningocele displaced the rectum forward.
Ultrasound
Pelvic ultrasound image showing a presacral mass that is anechoic and well-delimited between the rectum in the front and the sacrum in the back.
Department of Radiology.Pediatric Hospital Bechir Hamza, Bab Saadoun, Tunis, Tunisia.
Department of Radiology.Pediatric Hospital Bechir Hamza, Bab Saadoun, Tunis, Tunisia.
Abdominal radiogram
Abdomen X-ray showing a marked scimitar defect in the sacral bone.
Department of Radiology. Pediatric hospital Bechir Hamza, Bab Saadoun, Tunis, Tunisia.
Department of Radiology. Pediatric hospital Bechir Hamza, Bab Saadoun, Tunis, Tunisia.
Barium enema
Anal stenosis with increase of the distance between the rectum and the sacral bone. The rectum is displaced forward. A bone defect of a part of the sacrum is also noted.
Department of Radiology.Pediatric hospital Bechir Hamza, Bab Saadoun, Tunis, Tunisia.
Department of Radiology.Pediatric hospital Bechir Hamza, Bab Saadoun, Tunis, Tunisia.
Magnetic resonance imaging
Sagittal (a) and axial (b) T2-weighted imaging showing a presacral mass originating from the dural sac. The mass has the signal of cerebrospinal fluid.
Note that the anterior meningocele displaced the rectum forward.
Department of Radiology.Pediatric Hospital Bechir Hamza, Bab Saadoun, Tunis, Tunisia.
Department of Radiology.Pediatric Hospital Bechir Hamza, Bab Saadoun, Tunis, Tunisia.