DOI:10.2214/AJR.06.0487
AJR 2007; 189:S29-S31
© American Roentgen Ray Society
AJR Teaching File: Child with Chronic Constipation
Wessam B. Bou-Assaly1,
Anna Illner,
Lisa Delaney and
Richard Gunderman
1 All authors: Department of Radiology, Indiana University School of Medicine,
6833 Walnut Bend Rd., Indianapolis, IN 46254.
Received May 4, 2006;
accepted after revision August 1, 2006.
Address correspondence to W. B. Bou-Assaly
(wissiba{at}hotmail.com)
Keywords: chronic constipation • congenital malformations • Currarino syndrome • developmental anomalies • gastrointestinal radiology • neuroimaging • pediatric radiology
Case History
An 8-year-old boy was referred for evaluation of chronic constipation.
After review of normal basic laboratory results, a barium enema was ordered to
rule out anatomic abnormalities. When performing the enema, difficulty was
encountered passing the catheter through the anus, and the radiologist
performing the study realized the anus was too narrow. This led to evaluation
with a spine MRI.
Radiologic Description
Barium enema showed impacted stool filling the sigmoid colon and rectum.
When performing the study, the anal caliber was noted to be severely narrowed.
More important, the pelvic radiograph obtained before barium injection showed
sacral abnormalities with dysplastic lower sacral vertebra (Figs.
1A and
1B).
The spine MRI again revealed the sacral abnormalities with dysplastic lower
sacral vertebrae. The axial and sagittal unenhanced T1 and T2 sequences (Figs.
1C,
1D,
1E,
1F), showed a bilobulated
presacral mass, grossly homogeneous, with T1 hypointense and T2 hyperintense
signal characteristics, different from the CSF signal. No fatty or calcified
components were noted within this lesion. A central enhancing septation was
observed in the contrast-enhanced T1 images (Figs.
1G and
1H). The axial T1 and T2 images
also showed a small CSF signal tract coursing anteriorly through the S3
vertebral cleft toward the cystic lesion, but without obvious communication
with it.
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Fig. 1C —8-year-old boy with chronic constipation. Unenhanced axial T1
MRI image shows sacral hypoplasia with associated presacral bilobulated T1
hypointense mass lesion (arrow), whose signal is identical to
intrathecal CSF signal.
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Fig. 1D —8-year-old boy with chronic constipation. Axial T2 MR image
also shows bilobular, well-defined, hyperintense presacral mass lesion
(arrow). Markedly distended rectosigmoid colon is obvious on this
sequence.
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Differential Diagnosis
The differential diagnosis in this patient is caudal regression, Currarino
syndrome, sacrococcygeal teratoma, and isolated sacral agenesis.
Diagnosis
The diagnosis is Currarino syndrome with presacral teratoma.
Commentary
The findings of sacral bone defect with a presacral mass associated with an
anorectal malformation like an anal stenosis in a child complaining of
constipation evoked the diagnosis of Currarino syndrome. Currarino syndrome is
a rare hereditary syndrome, autosomal dominant in most cases, consisting of an
anorectal malformation, a sacrococcygeal defect, and a presacral mass
[1–6].
Other frequent associations include urologic, gynecologic, and nervous
system anomalies. The congenital malformation is presumably caused by abnormal
separation of the neuroectoderm from the endoderm. The causative gene was
identified as the HLXB9 homeobox gene on chromosome 7q36
[1,
2,
7,
8].
The main clinical complaint is an intractable constipation that is due to
the combination of the anorectal stenosis, extrinsic compression from the
presacral mass, and the associated neurologic factors
[1,
2,
5,
7–10].
The most frequent findings include a sacrococcygeal defect, which is
obligatory for the diagnosis and can be a total sacral agenesis or a partial
asymmetric deformity like a hemisacrum with "scimitar" or
"sickle" shape [2,
4,
9,
11]; a presacral
mass—those described in the literature include anterior meningocele
(most frequent), teratomas, enteric cysts, dermoid or epidermoid cysts,
lipomas, hamartomas or rectal duplications—while malignant
transformation is rare [1,
3–5,
9]; and anorectal
malformations, including anorectal stenosis with or without a blind-ending
fistula, anal atresia or ectopia, imperforate anus, and cloacal anomalies
[1,
3–5,
7,
9].
The other associated manifestations include malformations of the urogenital
system that comprise horseshoe kidneys, sigmoid kidneys, single pelvic
kidneys, neurogenic bladders, multicystic kidneys, vesicouretral reflux, and
partial or complete duplication of the vagina, clitoris, or uterus.
Associated intraspinal anomalies include spinal cord tethering, hydrofilum,
intraspinal lipoma, and hydrocephalus
[2,
7,
9]. There are incomplete forms
of Currarino syndrome with absence of one or two characteristics, particularly
in relatives of patients with Currarino syndrome
[1,
9,
11]. All first-degree
relatives should be offered a pelvic radiograph. Cases can be asymptomatic and
unrecognized until adulthood, but 80% of cases are diagnosed before the
patient is 16 years old [3,
9].
The imaging approach includes a radiograph of the sacrum that can detect
the sacral defect and raises concern about the syndrome in patients with
unexplained severe constipation, especially when anal anomalies are present.
Pelvic and spinal MRI are mandatory for the evaluation of the presacral mass
and to detect a probable associated intraspinal anomaly
[1,
4,
9]. Pelvic sonography is
required for every Currarino syndrome patient to explore associated urogenital
anomalies. CT myelography can be helpful for presacral tumor with suspicion of
anterior meningocele and retrorectal fistula. Given the increased radiation
with CT and the wider availability of MRI, CT myelography is limited to cases
in which MRI is not available
[9,
11].
The treatment is often surgical to prevent eventual dramatic complications
like meningitis, perianal sepsis, urinary tract infections, and, rarely,
malignancy transformation of a teratoma
[1–3,
10].
The caudal regression syndrome may associate lumbosacral agenesis and anal
atresia with other urogenital abnormalities. The sacral defect tends to be
more extensive, involving the first sacral vertebra and often the lumbar and
thoracic vertebrae too. There is no association with a presacral mass
[7]. The sacrococcygeal
teratoma most often presents in the postcoccygeal region. The underlying
sacral bone is often normal, and no anal malformations are associated
[7]. Isolated sacral agenesis
can occur as a consequence of diabetic embryopathy or be of unknown cause. No
presacral mass or anorectal malformations are usually noted.
Objective
The objective of this article is to recognize the association of spinal
abnormalities and presacral mass with anorectal malformations in a child
evaluated for chronic constipation. Early diagnosis with adequate treatment
prevents eventual serious complications including meningitis from fistula to
the thecal sac or from bone erosion, meningocele rupture, perianal sepsis,
urinary tract infection, and, rarely, malignant transformation of a
teratoma.
Conclusion
Currarino syndrome is a rare hereditary syndrome that associates anorectal
malformation, sacrococcygeal defect, and presacral mass, and usually presents
in children with chronic constipation. Early diagnosis with adequate surgical
treatment prevents eventual serious complications such as meningitis, sepsis,
urinary tract infection, and rarely, malignant transformation of a presacral
mass.
References
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Case History
Radiologic Description
