currarino syndrome in a fetus, infant, child, and

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Pediatric Radiology / Radiologie p ediatrique Currarino Syndrome in a Fetus, Infant, Child, and Adolescent: Spectrum of Clinical Presentations and Imaging Findings Pablo Caro-Dom ınguez, MD a,b, * , Juan Bass, MD b , Julie Hurteau-Miller, MD c a Department of Diagnostic Imaging, Division of Pediatric Radiology, Health Time group, Cordoba, Spain b Department of Diagnostic Imaging, Children’s Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada c Department of General Surgery, Children’s Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada Abstract In 1981, Currarino et al described a triad of findings that consist of partial sacral dysgenesis, presacral mass (anterior meningocele, enteric cyst, or presacral teratoma) and anorectal malformation. Currarino syndrome exhibits variable expressivity and the clinical presentation tends to vary with the age of the subject such as spinal anomaly detected in the fetus, imperforate anus in the newborn, and intractable constipation or neurologic symptoms in the infant and older child. At any age, meningitis can be the presenting symptom and imaging is required for proper investigation. Meningitis, sepsis, urinary tract infections, and, rarely, malignant transformation of a teratoma are serious potential complications. This pictorial review describes the imaging findings, clinical history, surgical interventions, and genetic background in 5 children with this syndrome who presented in our hospital in the interval of 1 year. R esum e En 1981, Currarino et coll. ont d ecrit une triade associant une dysg en esie partielle du sacrum, une masse pr e-sacr ee (m eningoc ele ant erieure, kyste ent erique ou t eratome pr e-sacr e) et une malformation ano-rectale. L’expressivit e et la pr esentation clinique du syndrome de Currarino tendent a varier selon l’^ age du patient. Il peut s’agir d’une anomalie rachidienne chez le fœtus, d’une imperforation de l’anus chez le nouveau-n e et d’une constipation r efractaire ou de sympt^ omes neurologiques chez le nourrisson ou l’enfant plus ^ ag e. A tout ^ age, le syndrome peut se manifester sous forme de m eningite et doit faire l’objet d’une etude d’imagerie afin d’ etablir le diagnostic appropri e. Il est par ailleurs susceptible d’entra ^ ıner des complications telles qu’une m eningite, une sepsie, une infection des voies urinaires et, en de rares occasions, la transformation d’un t eratome en tumeur maligne. Cet examen iconographique pr esente les constatations radiologiques, les dossiers cliniques, les interventions chirurgicales et les caract eristiques g en etiques de cinq enfants atteints du syndrome de Currarino qui ont et e suivis a notre h^ opital au cours d’une p eriode d’un an. Ó 2016 Canadian Association of Radiologists. All rights reserved. Key Words: Currarino; Fetal; Imaging; Magnetic resonance imaging; Syndrome In 1981, Currarino et al [1] described a triad that consists of partial sacral dysgenesis or hemisacrum, presacral mass (anterior meningocele, enteric cyst, or presacral teratoma) and anorectal malformation. This congenital syndrome is thought to be caused by malformation of the caudal notochord, which leads to aberrant secondary neurulation with incomplete sep- aration of the ectodermal and endodermal layers in the developing embryo [2]. Most cases are related to an autosomal-dominant trait. In 1995, the underlying gene defect causing Currarino syndrome was localized in chromosome 7q36. Later, nearly all familial cases were found to be associated with a mutation of the gene HLXB9. Approximately 30% of sporadic cases also have HLXB9 mutation. No obvious genotype-phenotype correla- tion has been identified [3,4]. Currarino syndrome exhibits variable expressivity and may be diagnosed on prenatal ultrasound. It can present as an imperforate anus at birth, intractable constipation from anorectal stenosis or extrinsic compression from a presacral mass, or as acute meningitis [1,2,5e9]. This review describes the different clinical presentations, imaging findings, genetic profile, surgical management, and * Address for correspondence: Pablo Caro-Dom ınguez, MD, Department of Diagnostic Imaging, Pediatric Radiology, Health Time group, Avenida Conde Vallellano 5, 14004, Cordoba, Spain. E-mail address: [email protected] (P. Caro-Dom ınguez). 0846-5371/$ - see front matter Ó 2016 Canadian Association of Radiologists. All rights reserved. http://dx.doi.org/10.1016/j.carj.2016.05.007 Canadian Association of Radiologists Journal xx (2016) 1e6 www.carjonline.org

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Page 1: Currarino Syndrome in a Fetus, Infant, Child, and

Canadian Association of Radiologists Journal xx (2016) 1e6www.carjonline.org

Pediatric Radiology / Radiologie p�ediatrique

Currarino Syndrome in a Fetus, Infant, Child, and Adolescent:Spectrum of Clinical Presentations and Imaging Findings

Pablo Caro-Dom�ınguez, MDa,b,*, Juan Bass, MDb, Julie Hurteau-Miller, MDc

aDepartment of Diagnostic Imaging, Division of Pediatric Radiology, Health Time group, Cordoba, SpainbDepartment of Diagnostic Imaging, Children’s Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, CanadacDepartment of General Surgery, Children’s Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada

Abstract

In 1981, Currarino et al described a triad of findings that consist of partial sacral dysgenesis, presacral mass (anterior meningocele, enteric

cyst, or presacral teratoma) and anorectal malformation. Currarino syndrome exhibits variable expressivity and the clinical presentation tendsto vary with the age of the subject such as spinal anomaly detected in the fetus, imperforate anus in the newborn, and intractable constipationor neurologic symptoms in the infant and older child. At any age, meningitis can be the presenting symptom and imaging is required forproper investigation. Meningitis, sepsis, urinary tract infections, and, rarely, malignant transformation of a teratoma are serious potentialcomplications. This pictorial review describes the imaging findings, clinical history, surgical interventions, and genetic background in 5children with this syndrome who presented in our hospital in the interval of 1 year.

R�esum�e

En 1981, Currarino et coll. ont d�ecrit une triade associant une dysg�en�esie partielle du sacrum, une masse pr�e-sacr�ee (m�eningoc�ele

ant�erieure, kyste ent�erique ou t�eratome pr�e-sacr�e) et une malformation ano-rectale. L’expressivit�e et la pr�esentation clinique du syndrome deCurrarino tendent �a varier selon l’age du patient. Il peut s’agir d’une anomalie rachidienne chez le fœtus, d’une imperforation de l’anus chezle nouveau-n�e et d’une constipation r�efractaire ou de symptomes neurologiques chez le nourrisson ou l’enfant plus ag�e. �A tout age, lesyndrome peut se manifester sous forme de m�eningite et doit faire l’objet d’une �etude d’imagerie afin d’�etablir le diagnostic appropri�e. Il estpar ailleurs susceptible d’entraıner des complications telles qu’une m�eningite, une sepsie, une infection des voies urinaires et, en de raresoccasions, la transformation d’un t�eratome en tumeur maligne. Cet examen iconographique pr�esente les constatations radiologiques, lesdossiers cliniques, les interventions chirurgicales et les caract�eristiques g�en�etiques de cinq enfants atteints du syndrome de Currarino qui ont�et�e suivis �a notre hopital au cours d’une p�eriode d’un an.� 2016 Canadian Association of Radiologists. All rights reserved.

Key Words: Currarino; Fetal; Imaging; Magnetic resonance imaging; Syndrome

In 1981, Currarino et al [1] described a triad that consists ofpartial sacral dysgenesis or hemisacrum, presacral mass(anterior meningocele, enteric cyst, or presacral teratoma) andanorectal malformation. This congenital syndrome is thoughtto be caused by malformation of the caudal notochord, whichleads to aberrant secondary neurulation with incomplete sep-aration of the ectodermal and endodermal layers in thedeveloping embryo [2].

* Address for correspondence: Pablo Caro-Dom�ınguez, MD, Department

of Diagnostic Imaging, Pediatric Radiology, Health Time group, Avenida

Conde Vallellano 5, 14004, Cordoba, Spain.

E-mail address: [email protected] (P. Caro-Dom�ınguez).

0846-5371/$ - see front matter � 2016 Canadian Association of Radiologists. A

http://dx.doi.org/10.1016/j.carj.2016.05.007

Most cases are related to an autosomal-dominant trait. In1995, the underlying gene defect causing Currarino syndromewas localized in chromosome 7q36. Later, nearly all familialcases were found to be associated with a mutation of the geneHLXB9. Approximately 30% of sporadic cases also haveHLXB9 mutation. No obvious genotype-phenotype correla-tion has been identified [3,4].

Currarino syndrome exhibits variable expressivity andmay be diagnosed on prenatal ultrasound. It can present as animperforate anus at birth, intractable constipation fromanorectal stenosis or extrinsic compression from a presacralmass, or as acute meningitis [1,2,5e9].

This review describes the different clinical presentations,imaging findings, genetic profile, surgical management, and

ll rights reserved.

Page 2: Currarino Syndrome in a Fetus, Infant, Child, and

2 P. Caro-Dom�ınguez et al. / Canadian Association of Radiologists Journal xx (2016) 1e6

clinical outcome of 5 children with Currarino syndrome whoattended our hospital in the interval of 1 year. Each patientpresented at a different stage of life: a fetus (antenatalmagnetic resonance [MR]), an infant, 2 siblings during theirfirst years of life, and a teenager.

Imaging Cases

Case 1: The Fetus

The first patient is a 33 weeks gestational age fetus. A fetalMR imaging (MRI) was requested for a suspicious lumbardefect and possible presacral mass seen on prenatal ultrasoundat 32 weeks. Fetal MR confirmed signs of low-lying cord,anterior sacral defect and a mass between the defect and thebladder (Figure 1, A-C). Absence of meconium in the rectumalso raised the presence of an anorectal pathology.

The infant was born by normal vaginal delivery withoutcomplication and postnatal ultrasound (Figure 1, D-E) and MRconfirmed the anomalies adding the finding of a didelphysuterus. A colostomy was performed at 1 month of age, releaseof tethered cord at 2 months of age, and anorectal malfor-mation was corrected by sagittal anorectoplasty at 5 months ofage. The closure of the colostomy was performed at 13 months

Figure 1. The fetus with prenatal ultrasound suggesting a sacral defect. Fetal magneti

sagittal SSFP, (D, E) neonatal ultrasound, and (F) radiograph of the pelvis at 12 mont

sacral agenesis (SA), and a presacral mass (M) behind the bladder (B). The spinal c

extending to the mass. Postnatal spinal ultrasound and radiography confirm these fi

of age. A double STING (subtrigonal teflon injection) pro-cedure was performed at 33 months of age due to recurrenturinary tract infection (UTI) related to bilateral grade 2 reflux.Presacral teratoma resection was performed at 3 years of age.

Genetic consultation showed a de novo mutation sec-ondary to HLXB9 mutation. The possibility of the parents ofhaving a second child with this syndrome is <1%. After4 years and 8 months of follow-up, intermittent bladdercatheterization is still necessary due to a neurogenic bladderand recurrent UTIs. The child is otherwise well.

Case 2: The Neonate

The second patient is a term baby, born by vaginal deliveryat a community hospital after a normal pregnancy. At 9 daysof life, he was brought to the emergency department for signsof dehydration. On examination, the infant had fever andbulging fontanel. Cranial and spinal ultrasound were per-formed and showed large ventricles with thick ependymallining suggesting meningitis, low-lying cord and absence ofnormal sacrum with a presacral mass (Figure 2, A and B).MRI done on the following day confirmed these abnormalities(Figure 2C). A preoperative computed tomography scan of thepelvis was performed (Figure 2D).

c resonance (A) axial steady-state free precession (SSFP), (B) coronal SSFP, (C)

hs. Fetal magnetic resonance imaging demonstrates an anterior spinal defect (D),

ord extends below the level of the kidneys (K) with a broad-shaped conus (C)

ndings demonstrating fat signal within the mass suggestive of teratoma.

Page 3: Currarino Syndrome in a Fetus, Infant, Child, and

Figure 2. The neonate presenting with fever and dehydration. (A, B) Sagittal spine ultrasound, (C) spinal magnetic resonance imaging sagittal T1 post-

gadolinium, (D) axial computed tomography, and (E) frontal radiograph of the pelvis show a low-lying cord (arrow), signs of spinal meningitis (arrowhead), a

presacral mass (M), and deficient sacrum (S).

3Imaging of Currarino syndrome / Canadian Association of Radiologists Journal xx (2016) 1e6

Two days later, the infant was taken to the operating roomfor a posterior approach exploration of the rectum and partialexcision of an infected presacral dermoid cyst. Closure of therectal wall and sigmoid colostomy were performed.

At 5 months of age, tethered cord release was done. At7 months of age the infant was taken to the operating room forposterior sagittal, closure of a rectal fistula and sinus, as wellas anoplasty. One month later, the colostomy was closed.

Genetic consultation showed a de novo mutation of theHLXB9 gene and duplication of 9 base pairs (not previouslyreported). After 4 years and 11 months, this child is clinicallywell with signs of mild neurogenic bladder needing inter-mittent catheterization.

Cases 3 and 4: The Young Child

Patients 3 and 4 are siblings transferred from anothercentre due to a change of residence of the family. Both were

diagnosed with Currarino syndrome by antenatal ultrasound.Their father was known for this condition, he underwentsurgery of tight spinal cord and excision of presacral dermoidcyst at our Institution 20 years ago.

Both pregnancies and deliveries were normal withoutsignificant neonatal events. Early in life, the sister wasdiagnosed with vesicoureteral reflux as well as horseshoekidney. Follow-up ultrasounds showed normal renal growthand the child remained asymptomatic. She has beenassessed by neurosurgery, urology, orthopaedics, and gen-eral surgery to evaluate her development. She never un-derwent surgery for her syndrome because she isasymptomatic and on follow-up imaging, the mass remainsunchanged. On MR, she has signs of low lying cord, a smallcomplex presacral mass, and anorectal malformation(Figure 3, A and B).

His brother was born with very mild distal glandularhypospadias, He was followed at another Hospital for

Page 4: Currarino Syndrome in a Fetus, Infant, Child, and

Figure 3. The young sister child, asymptomatic beside vesicoureteral reflux. (A) Sagittal and (B) axial T2 images show sacral deficiency (arrowhead), distention of

the rectum (R) secondary to anorectal malformation and presacral mass (M). Low-lying cord (arrow) and horseshoe kidney (discontinuous arrow) are noted.

4 P. Caro-Dom�ınguez et al. / Canadian Association of Radiologists Journal xx (2016) 1e6

frequent anal dilatations for anal stenosis during his first fewyears of life. At 2 years of age, he underwent partial excisionof a presacral teratoma at that Hospital. He presented to ourHospital at the age of 5 years of age due to constipation andsoiling accidents. He was then assessed by neurosurgery,urology and general surgery. On MRI (Figure 4), there aresigns of low lying cord, nonexpansile syrinx, presacral massand anorectal malformation Without specific further treat-ment, his clinical outcome after 3 years is very good, withoutGI or GU symptoms.

Case 5: The Teenager

Figure 4. The young brother child with constipation and soiling accidents.

Sagittal T2 image of the lumbosacral spine shows low lying cord (arrow),

associated with sacral deficiency (arrowhead), distension of the rectum (R)

secondary to anorectal malformation and a presacral solid-cystic mass (M).

Patient 5 is a boy 17 years and 6 months of age transferredto our institution from a community hospital with acomplicated history, which started 7 months before.

He initially presented with a persistent perianal abscess,which was drained under local anesthesia. He then developedmeningitis and was hospitalized for 3 weeks. He was fine for6 months when he started having fevers and recurrent pain inthe perirectal area. Under general anesthesia, the patientunderwent an attempted drainage at the community hospitalbut the procedure was aborted due to the palpation of a masson digital rectal examination.

The patient was transferred to our hospital and an MRIshowed a sacral defect with a complex solid-cystic mass(Figure 5, A and B). An abscess cavity was identified andpresumed to be either an ischiorectal abscess or a noncom-municating infected meningocele. At that time, the patientdid not have signs of sepsis or meningitis. Under ultrasound(Figure 5C), the abscess cavity was punctured, pus wasdrained, and multiple organisms including anaerobic andaerobic bacteria were identified.

His familial history was remarkable with a father and 2maternal aunts known for meningocele. After 1 year, heremained clinically asymptomatic and was transferred to anadult hospital for follow-up.

Page 5: Currarino Syndrome in a Fetus, Infant, Child, and

Figure 5. The teenager with persistent perianal abscess. (A) Axial T2 fat saturated, (B) sagittal T1-fat sat postcontrast, and (C) transrectal ultrasound images

show sacral insufficiency, a presacral cystic mass (M) in close contact with the rectum (arrow), and associated inflammatory changes (arrowhead). Ultrasound

guided transrectal drainage was performed and pus was obtained from an infected meningocele.

5Imaging of Currarino syndrome / Canadian Association of Radiologists Journal xx (2016) 1e6

Discussion

In this article, through 5 different pediatric patients, themost frequent radiological findings of Currarino syndromehave been described. These findings include a 1) sacro-coccygeal defect, which can range from an asymmetricsacral deformity such as a hemisacrum with scimitar orsickle shape [7,10e12] to a total sacral agenesis, a 2) pre-sacral mass, and in this study 2 were sacral teratomas, 1dermoid cyst, 1 anterior meningocele,and 1 remains unre-sected (patient 3). In the literature, anterior meningocele isthe most frequent nature of the presacral masses. Teratomas,enteric cysts, dermoid or epidermoid cysts, lipomas,hamartomas, or rectal duplications are reported. Malignanttransformation of a presacral teratoma has been described,but is rare [13]. 3) Anorectal malformations, including analstenosis with or without a fistula, anal atresia or ectopia,imperforate anus, and cloacal anomalies are part of thesyndrome [5e8].

Other associated manifestations include malformations ofthe urogenital system that comprise horseshoe kidneys, sig-moid kidneys, single pelvic kidneys, neurogenic bladders,multicystic kidneys, vesicouretral reflux, and partial or com-plete duplication of the vagina, clitoris, or uterus. Some ofthese anomalies have been seen in our population. Associatedintraspinal anomalies include low-lying spinal cord, hydro-filum, intraspinal lipoma, and hydrocephalus [6,10,11]. Thereare incomplete forms of Currarino syndrome with absence of1 or 2 characteristics, particularly in relatives of patients withCurrarino syndrome [9,11,12]. Heterozygote patients can beasymptomatic and remain unrecognized. However, 80% ofcases are diagnosed before 16 years of age [6,11].

Better knowledge of the different clinical signs andsymptoms of Currarino syndrome at different stages of lifeenhances appropriate imaging and prompt diagnosis of thiscondition. The imaging approach includes a radiograph ofthe sacrum for detection of sacral defect in patients withunexplained severe constipation or anal anomalies. Pelvicand spinal MRI is required for the evaluation of a presacralmass and to detect associated intraspinal anomalies [5,8,11].In newborn and infant before 4 months, spinal ultrasound is

very useful and pelvic sonography is required for every pa-tient with Currarino syndrome to explore for associatedurogenital anomalies.

The treatment is often surgical to prevent eventual com-plications such as meningitis, perianal sepsis, urinary tractinfections, and, rarely, malignancy transformation of a tera-toma [8,9,11,13].

Conclusion

Currarino syndrome is a rare hereditary syndrome thatincludes anorectal malformation, sacrococcygeal defect andpresacral mass. It usually manifests as persistent constipationin a child but its clinical presentation is variable.

Better knowledge of the different clinical signs and symp-toms of Currarino syndrome at different stage of life enhancesappropriate imaging and prompt diagnosis of this condition.

Early recognition of Currarino syndrome with adequatesurgical treatment prevents eventual serious complicationssuch as meningitis, sepsis, urinary tract infection, and, rarely,malignant transformation of a presacral mass.

References

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[8] Ilhan H, Tokar B, Atasoy MA, Kulai A. Diagnostic steps and staged

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Eur J Pediatr Surg 1996;6:114e9.

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aging in Currarino triad. Eur Radiol 1999;9:1348e53.

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[13] Tander B, Baskin D, Bulut M. A case of incomplete Currarino triad

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