Invest Clin 62(2): 103 - 111, 2021 https://doi.org/10.22209/IC.v62n2a01
Corresponding author: Jian Wang .
Department of General Surgery, Children’s Hospital of Soochow University,
Suzhou, China. E-mail :wang.medical23@gmail.com
Currarino Syndrome: lower urinary tract
function, treatment plan and outcomes.
Hongliang Xia
1
, Mingcui Fu
1
, Hangzhou Wang
2
, Xu Cao
1
, Xiangming Yan
1
, Yun Zhou
1
and Jian Wang
3
1
Department of Urology, Children’s Hospital of Soochow University, Suzhou, China.
2
Department of Neurosurgery, Children’s Hospital of Soochow University, Suzhou,
China.
3
Department of General Surgery, Children’s Hospital of Soochow University, Suzhou,
China.
Key words: Currarino syndrome (CS); video-urodynamics (VUDS); neurogenic bladder;
children; multidisciplinary.
Abstract. Currarino syndrome (CS) is a rare congenital disorder char-
acterized by anorectal malformation, sacral agenesis and presacral mass. We
performed video-urodynamics (VUDS) assessment of patients with CS to char-
acterize the lower urinary tract function, individualize management plans and
to follow outcomes. We conducted a cross-sectional study on 11 patients diag-
nosed with CS at the spina bifida multidisciplinary clinic. Lower urinary tract
function was assessed by VUDS from three months to 12 months after neuro-
surgery. All patients had sacral agenesis; nine patients had anorectal malforma-
tion (9/11, 81.8%) and five patients had a presacral mass (5/11, 45.5%). The
average age at neurosurgery was 7.9 months (range, 2–19). One patient had
bilateral vesicoureteral reflux (VUR) with increasing detrusor pressure at the
end of filling. In two patients, the detrusor activity showed weakening during
urination, while no other lower urinary tract abnormality was identified on uro-
dynamic evaluation. Six patients underwent VUDS before and after surgery; of
these, two patients showed improved bladder function after surgery, while the
remaining four patients showed no change in urodynamics. The average dura-
tion of follow-up was 27.5 months (range, 9–51). Renal function was normal
in all patients. We can conclude that patients with CS often exhibit associated
neurological abnormalities. VUDS assessment may help detect lower urinary
tract dysfunction at an early stage and facilitate timely urological intervention
to avoid kidney damage.
104 Xia et al.
Investigación Clínica 62(2): 2021
Síndrome de Currarino: función del tracto urinario inferior,
plan de tratamiento y resultados.
Invest Clin 2021; 62 (2): 103-111
Palabras clave: síndrome de Currarino (SC); videourodinámica (VUDS); vejiga neuró-
gena; niños; multidisciplinario.
Resumen. El síndrome de Currarino (SC) es un trastorno congénito poco
común que se caracteriza por malformación anorrectal, agenesia sacra y masa
presacra. Realizamos una evaluación por video-urodinamia (VUDS) de pacien-
tes con SC para caracterizar la función del tracto urinario inferior, planes de
manejo individualizados y el seguimiento terapéutico posterior. Realizamos un
estudio transversal en 11 pacientes diagnosticados de SC en la clínica multidis-
ciplinaria de espina bífida. La función del tracto urinario inferior se evaluó me-
diante VUDS de 3 a 12 meses después de la neurocirugía. Todos los pacientes
tenían agenesia sacra; nueve pacientes tenían malformación anorrectal (9/11,
81,8%) y cinco pacientes tenían una masa presacra (5/11, 45,5%). La edad
promedio en el momento de la neurocirugía fue de 7,9 meses (rango, 2-19). Un
paciente tenía reflujo vesicoureteral (RVU) bilateral con aumento de la presión
del detrusor al final del llenado. En dos pacientes, la actividad del detrusor
mostró debilitamiento durante la micción, mientras que no se identificó nin-
guna otra anomalía del tracto urinario inferior en la evaluación urodinámica.
Seis pacientes se sometieron a VUDS antes y después de la cirugía; de estos,
dos pacientes mostraron una mejor función de la vejiga después de la cirugía,
mientras que los cuatro pacientes restantes no mostraron cambios en la urodi-
námica. La duración media del seguimiento fue de 27,5 meses (rango, 9-51).
La función renal fue normal en todos los pacientes. Podemos concluir que los
pacientes con SC suelen presentar anomalías neurológicas asociadas. La eva-
luación de VUDS puede ayudar a detectar la disfunción del tracto urinario infe-
rior en una etapa temprana y facilitar la intervención urológica oportuna para
evitar daño renal.
Received: 13-11-2020 Accepted: 23-01-2021
INTRODUCTION
Currarino syndrome (CS) is a rare au-
tosomal dominant genetic disease, which
was first described by Currarino et al. in
1981 (1). The cardinal characteristics of CS
include sacral agenesis, anorectal malfor-
mation and a presacral mass (also referred
to as the Currarino triad)(2,3). The presa-
cral mass, which may lead to sacral nerve
compression or traction, is usually a my-
elomeningocele, lipomyelomeningocele, or
teratoma; in rare cases, the mass may be a
lipoma or an enterogenous cyst. CS may be
associated with intraspinal abnormalities,
such as filum terminal lipoma, intraspinal
dermoid cyst, or intraspinal lipoma, leading
to tethered cord (TC). Therefore, patients
with CS may exhibit signs of sacral nerve
dysfunction, such as constipation, lower
urinary tract symptoms, and lower limb
sensorimotor deficit (2,3).
Currarino syndrome treatment 105
Vol. 62(2): 103 - 111, 2021
Patients with CS (especially those who
require neurosurgery for correction of neu-
ral tube closure defect and release of TC) re-
quire evaluation of lower urinary tract func-
tion, urological treatment, and follow-up of
renal function. Urological evaluation and
treatment of children with spina bifida has
been shown to prevent renal damage and im-
prove life expectancy and quality of life (4).
Apart from ultrasound, magnetic resonance
imaging and renal function tests, video-uro-
dynamics (VUDS) is a particularly useful ap-
proach for assessment of lower urinary tract
function and to predict the possibility of
upper urinary tract injury in these patients
(5). Till date, only a few case reports have
described urological intervention in patients
with CS (6,7).
In this study, we retrospectively ana-
lyzed the urological evaluation and treat-
ment of patients with CS who underwent
neurosurgery at our spina bifida multidisci-
plinary clinic. Our experience may help pro-
mote individualized management of patients
with CS with the objective to better preserve
the upper urinary tract function.
MATERIALS AND METHODS
Patient selection
This was a cross-sectional study on pa-
tients diagnosed with CS at the spina bifida
multidisciplinary clinic between 2014 and
2018. The diagnostic criteria for patients
enrolled in our study were presence of sacral
agenesis in combination with one or more
of the following: presacral mass, anorectal
malformation, genitourinary malformation,
or other malformations. Data pertaining
to medical history, clinical characteristics,
investigations (ultrasound, magnetic reso-
nance imaging (MRI), renal function tests
and VUDS) and treatment outcomes were
reported.
Surgical treatment
In the spina bifida multidisciplinary
clinic, the general surgeons determined the
necessity of surgical treatment of anorectal
malformation, while the neurosurgeons de-
termined the necessity of surgical treatment
of the presacral mass, spina bifida, and/or TC.
After the surgical protocol was determined by
the general surgeon and the neurosurgeon,
the urologist evaluated the patient’s urinary
system before and after surgery.
VUDS assessment
We performed comprehensive VUDS ex-
amination of patients, including cystometry,
imaging (X-ray) monitoring, and sphincter
electromyography. Data obtained from the
examination included: bladder volume, blad-
der compliance, detrusor activity, detrusor
leak-point pressure (DLPP) or end-filling
pressure (EFP), detrusor-sphincter synergy,
bladder morphology, and presence or ab-
sence of vesicoureteral reflux (VUR).
Classification of bladder risk
We classified the bladder status into
four categories according to the urodynamic
classification method proposed by Joseph
(8) and Routh et al. (4): (1) high-risk blad-
der: EFP/DLPP ≥ 40 cm H
2
O, or neurogenic
detrusor overactivity (NDO) with detrusor
sphincter dyssynergia (DSD); (2) interme-
diate-risk bladder: NDO, decreased bladder
compliance, 25 cm H
2
O EFP/DLPP < 40
cm H
2
O; (3) low-risk bladder (also known
as safe bladder): EFP/DLPP < 25 cm H
2
O,
detrusor contraction < 60 cm H
2
O without
DSD; (4) normal bladder: normal bladder
volume, bladder compliance detrusor pres-
sure change < 15 cm H
2
O, no NDO, no DSD,
detrusor contraction < 60 cm H
2
O, normal
post-void volume. We improved the classifi-
cation method according to the VUDS ex-
amination. If grade I–IV VUR appeared dur-
ing inspection, the risk may increase by one
level. A high-risk bladder may be defined if
V-level VUR get appeared.
Urological management
We used a combination of clean inter-
mittent catheterization (CIC) and oral anti-
106 Xia et al.
Investigación Clínica 62(2): 2021
cholinergic drugs for high-risk bladders, and
guided urination training for patients with
weakened detrusor activity during urination.
Follow-up plan
We developed a follow-up plan for all
patients based on bladder risk and age. The
follow-up plan included renal and bladder
ultrasound (RBUS), VUDS, and renal func-
tion tests. Occurrence of lower urinary tract
symptoms (such as a febrile urinary tract in-
fection) during follow-up is an indication for
immediate RBUS. In the event of detection
of a new abnormality on RBUS, VUDS should
be performed. Renal function tests were
concomitantly performed with RBUS; renal
function was calculated using the Schwartz
serum creatinine clearance formula (9):
eGFR=kL/SCr
where k is a constant (k value is 0.33 for pre-
mature infants < 1 year of age; 0.45 for full-
term infants < 1 year of age; 0.55 for chil-
dren aged 2–12 years and adolescent women
aged 13–21 years; 0.7 for adolescent males
aged 13–21 years). L refers to height (cm),
and SCr refers to serum creatinine (mg/dL).
Statistical analysis:
Descriptive statistics were used to re-
port continues data by Mean ± SD and cat-
egorical data by number and percent. No
further analytical statistical analysis was
conducted.
RESULTS
Patient characteristics
Our study included 11 patients (8
males, 3 females) with CS. The mean age at
diagnosis was 7.3 ± 5.2 months (range, 0–19
months). The characteristics of enrolled pa-
tients are summarized in Table I.
Outcomes of general surgical treatment
All 11 patients had sacral agenesis.
Eight patients had anorectal malformations
(8/11, 72.72%); seven patients had congen-
ital anal atresia, and one patient had anal
stenosis. Among the other malformations,
one patient had Hirschsprung disease. Of
the seven patients with anal atresia, four pa-
tients had rectoperineal fistula. Out of the
seven children with anal atresia, two were
first diagnosed as CS at the spina bifida
multidisciplinary clinic because of the com-
plication of lipomyelomeningocele, while
the remaining five patients were first diag-
nosed in the general surgery department.
All seven patients underwent surgery within
three days after birth (two underwent sig-
moidostomy and five underwent anoplasty).
Patients with stricture of anus underwent
anoplasty at the age of five months. Patients
with Hirschsprung underwent Pull-through
Procedure at 6-month-old.
Outcomes of neurosurgical treatment
The average age of patients at the time
of neurosurgery was 7.9 ± 4.9 months (range,
2–19). Sacrococcygeal MRI performed at the
spina bifida multidisciplinary clinic revealed
TC in six patients. Three patients had filum
terminal lipoma, two patients had intraspi-
nal masses (intraspinal dermoid cyst and
intraspinal lipoma, respectively), and one
patient had pilonidal sinus. All six patients
underwent mass resection and TC release
in neurosurgery. Five patients had presacral
mass (5/11, 45.5%); of these, three patients
had a lipomyelomeningocele, one had sacro-
coccygeal teratoma, and one had sacrococ-
cygeal lipoma. Lipoma resection and neural
tube reconstruction was performed in pa-
tients with lipomyelomeningocele. Tumor
resection and TC release were performed
in patients with sacrococcygeal lipoma and
teratoma.
Outcomes of urological evaluation
and treatment
All patients underwent VUDS exami-
nation at 3–12 months after neurosurgery.
(Table II) Six patients underwent both pre-
and post-operative VUDS. Of these, two pa-
Currarino syndrome treatment 107
Vol. 62(2): 103 - 111, 2021
tients who had intermediate-risk bladder on
preoperative VUDS assessment (right grade
III VUR and DLPP 28cm H
2
O, respectively)
showed low-risk bladder on postoperative
VUDS assessment (resolution of right VUR
and decrease of DLPP to 20 cm H
2
O, respec-
tively). One patient had preoperative EFP 35
cm H
2
O with right grade II VUR, which was
classified as high-risk bladder. This patient
had postoperative EFP 44 cm H
2
O with bilat-
eral VUR (left grade II, right grade III), and
worse postoperative lower urinary tract func-
TABLE I
CHARACTERISTICS OF THE PATIENTS.
No Gender Age at
diagnosis
Sacral
agenesis
ARM Age at
ARM
surgery
Presacral mass Other
malformations
Age at
Neurosurgery
1 F 5 m Ye s Anal atresia 5 m,
2 d
No Pilonidal sinus,
Right solitary
kidney
6 m
2 F 1 d Ye s
Anal atresia
with fistula
2 d
Lipomyelo-
meningocele
Hydrocephalus 3 m
3 M 7 m Ye s Anal atresia 2 d No
Intraspinal
dermoid cyst,
Craniostenosis,
Dextrocardia
with VSD
7 m
4 M 11 m Ye s
Anal atresia
with fistula
1 d No
Intraspinal
lipoma,
Syringomyelia
11 m
5 M 8 m Ye s No No
Sacrococcygeal
lipoma
No 8 m
6 M 13 m Ye s
Anal atresia
with stula
1 d No
Filum terminal
lipoma
13 m
7 F 19 m Ye s
Rectal
stenosis
5 m No
Filum terminal
lipoma
19 m
8 M 7 m Ye s Anal atresia 6m, 1d No
Filum terminal
lipoma
7 m
9 M 6 m Ye s
Hirschsprung
disease
6 m
Lipomyelo-
meningocele
Left duplex
kidney
9 m
10 M 2 m Ye s No No
Sacrococcygeal
teratoma
Polydactyly 2 m
11 M 1 d Ye s Anal atresia
with fistula
3 d Lipomyelo-
meningocele
Left solitary
kidney with
hydronephrosis,
Bilateral
cryptorchidism,
Right radial
deficiency
2 m
ARM: anorectal malformation; m, months; d, days; VSD, ventricular septal defect.
108 Xia et al.
Investigación Clínica 62(2): 2021
TABLE II
UROLOGICAL EVALUATION AND MANAGEMENT.
No VUDS before
neurosurgery
Neurosurgery VUDS after
neurosurgery
Urological
management
Follow-
up(months)
eGFR
(mL/
min/1.73m
2
)
1 No Spinal cord
untethering
EFP 10 cm
H
2
O, Low risk
bladder
RBUS once a year 51 101.7
2 No Lipoma
resection and
neural placode
reconstruction
DLPP 18 cm
H
2
O, Low risk
bladder
RBUS once a year 48 123.6
3 EFP 35 cm
H
2
O, Right
VUR, High
risk bladder
Dermoid cyst
resection and
Spinal cord
untethering
EFP44 cm
H
2
O, Bilateral
VUR, High risk
bladder
CIC +
anticholinergics,
RBUS once every
6 m, VUDS once
a year
42 109.1
4 EFP 5 cm
H
2
O, Low
risk bladder
Lipoma resection EFP 11 cm
H
2
O, Low risk
bladder
RBUS once a year 36 140.3
5 EFP 14 cm
H
2
O, Low
risk bladder
Lipoma resection
and Spinal cord
untethering
EFP 9 cm
H
2
O, Low risk
bladder
RBUS once a year 33 102.5
6 EFP 18
cm H
2
O,
Right VUR,
Intermediate
risk bladder
Filum terminal
transection
EFP 24 cm
H
2
O, VUR
disappeared,
Low risk
bladder
RBUS once every
6 m, VUDS once
every 2 y
24 128.1
7 Detrusor
underactivity,
Low risk
bladder
Filum terminal
transection
Detrusor
underactivity,
Low risk
bladder
Urination training,
RBUS once every
6 m, VUDS once
every 2 y
21 129.6
8 No Filum terminal
transection
Detrusor
underactivity,
Low risk
bladder
Urination training,
RBUS once every
6 m, VUDS once
every 2 y
15 109.8
9 No Lipoma
resection and
neural placode
reconstruction
EFP 7 cm
H
2
O, Low risk
bladder
RBUS once a year 12 111.3
10 No Teratoma
resection
EFP 12 cm
H
2
O, Low risk
bladder
RBUS once a year 12 104.7
11 DLPP 28
cm H
2
O,
Intermediate
risk bladder
Lipoma
resection and
neural placode
reconstructionn
DLPP 20 cm
H
2
O, Low risk
bladder
RBUS once a year 9 93.7
VUDS, video-urodynamics; DLPP, detrusor leak-point pressure; EFP, end-filling pressure, VUR, vesicoureteral reflux;
RBUS, renal and bladder ultrasound.
Currarino syndrome treatment 109
Vol. 62(2): 103 - 111, 2021
tion. This patient was treated with CIC and
an oral anticholinergic drug (oxybutynin). In
the remaining three patients, both pre- and
post-operative VUDS revealed low-risk blad-
der. Five patients had undergone only post-
operative VUDS. Two patients who showed
low detrusor activity, prolonged urination
but less residual urine during urination,
were classified as low-risk bladder group.
Both patients underwent urination train-
ing. VUDS results in the remaining three pa-
tients showed low-risk bladder.
Outcomes of urology follow-up
The follow-up plan for individual pa-
tients was based on the bladder risk (Table
III). The mean follow-up time in the en-
tire cohort was 27.5±14.5 months (range,
9–51). One patient developed febrile urinary
tract infection. No new abnormal manifesta-
tions were detected by ultrasound examina-
tion in any of the patients. One patient had a
left solitary kidney with hydronephrosis and
the symptoms were not aggravated. Renal
function remained normal in all patients.
DISCUSSION
The embryological pathogenesis of CS
was elaborated by Currarino et al. in 1981(1).
In the early embryonic stage, the mesoderm
extends to the tail to surround the notochord
and form the vertebral body. Abnormal adhe-
sions between the endoderm and neuroec-
toderm prevent the fusion of the vertebral
body. Abnormal adhesion between the intes-
tine formed by endoderm and the neural tube
formed by the notochord leads to the main
characteristic malformation of CS. The three
main features of CS may not always manifest
simultaneously. Sacral agenesis (the primary
diagnostic criteria) may occur in combina-
tion with other malformations such as ano-
rectal malformation, urinary malformation,
reproductive system malformation, or ner-
vous system malformation.
In addition to the Currarino triad, we
observed the following malformations in-
volving multiple systems in our cohort. Uri-
nary system malformations: isolated kidney,
hydronephrosis, renal duplication. Nervous
TABLE III
FOLLOW-UP PLAN OF UROLOGY DEPARTMENT.
Multidisciplinary clinic after birth
Medical history, physical examination, spinal MRI, ultrasound
Multidisciplinary assessments in departments of general surgery, neurosurgery,
orthopedics, urology, and imaging.
VUDS examination before and after operation
High-risk bladder Age < 12 m, RBUS after 3 m,
VUDS after 6 m
Occurrence of lower urinary tract
symptoms (such as a febrile urinary
tract infection) during follow-up is an
indication for immediate RBUS. In the
event of detection of a new abnormality
on RBUS, VUDS should be immediately
performed.
Age ≥12 m, RBUS after 6 m,
VUDS after 1 year
Intermediate-risk
bladder
Age < 12 m, RBUS after 3 m,
VUDS after 1 year
Age≥ 12 m, RBUS after 6 m,
VUDS after 2 years
Low-risk and normal
bladder
Age <12 m, RBUS after 6 m,
VUDS after 1 year
Age ≥ 12 m, RBUS after 12 m,
VUDS after 2 years
VUDS, video-urodynamics; RBUS, renal and bladder ultrasound.
110 Xia et al.
Investigación Clínica 62(2): 2021
system malformation: hydrocephalus, cra-
niostenosis, TC, syringomyelia, intraspinal
mass. Limb malformations: absence of ra-
dius, polydactyly. Genital malformations:
cryptorchidism. Cardiovascular malforma-
tions: dextrocardia, ventricular septal de-
fect. Therefore, other factors apart from the
embryological abnormalities might lead to
multiple malformations.
In our study, three patients with CS had
lipomyelomeningocele and postoperative
VUDS assessment revealed low-risk bladder
in all of them. However, long-term follow-
up of bladder function is required. Other
causes of lower urinary tract dysfunction
may include primary or secondary TC, sacral
nerve development defect, intraspinal mass,
sphincter complex injury during anoplasty,
or nerve injury during neurosurgery.
The present study focuses on the urolog-
ical evaluation and management of patients
with CS. Lee et al. retrospectively analyzed
the urinary symptoms and urodynamics be-
fore and after TC release in 14 patients with
CS (6). Pio et al. reported the clinical symp-
toms, imaging findings, and urodynamics
of 16 patients with CS (7). Our study used
VUDS to evaluate the bladder function of pa-
tients with CS. The risk of bladder function
was classified based on the results of VUDS.
According to the severity of bladder risk, we
performed individualized clinical manage-
ment to protect renal function.
In 2007, Joseph developed a risk index
for bladder based on urodynamic assessment
comprising of DLPP, NDO, and DSD (8).
Tarcan et al. proposed that the predictive
sensitivity of DLPP 20 cm H
2
O for upper uri-
nary tract injury is higher than that of 40 cm
H
2
O (10). However, there are several deter-
minants of the risk of upper urinary tract in-
jury in these patients. The bladder risk classi-
fication proposed by Joseph is an important
tool to guide treatment decision-making for
neurogenic bladder. However, the risk rating
does not incorporate the results of imagen
examination. Therefore, we incorporated the
results of imaging examination in the risk
classification of bladder. For grade I to IV
VUR and/or lack of smoothness of the blad-
der wall, the bladder risk increases by one
level. A high-risk bladder should be defined
when V grade VUR occurs.
Based on our experience, we have de-
veloped a comprehensive multidisciplinary
diagnostic, therapeutic, and long-term fol-
low-up plan for these patients (Table III).
We hope that this plan will provide a viable
treatment for CS and all other diseases that
may lead to neurogenic bladder disease.
Some limitations of this study should
be acknowledged. First of all, CS is a rare
disease, since the spina bifida multidisci-
plinary clinic was established in 2014, lim-
ited sample-sized patients with CS have
received standardized and comprehensive
treatment at our center. This low sample
size has limited us to only perform a cross-
sectional study and no analytical assessment
was possible. So, the proposed interpreta-
tions and approaches are concluded qualita-
tively, as there was a huge heterogeneity in
terms of the differences in the disease mani-
festations, surgeries that patients received,
and their urological managements. Sec-
ondly, patients enrolled in the study did not
undergo systematic genetic studies. Thirdly,
the follow-up time of patients in this study
was relatively short, and the function of the
lower urinary tract of patients with CS may
change over time. Therefore, long-term fol-
low-up is necessary. Finally, our study did not
research the lower urinary tract symptoms.
Since most of the patients were too young
to receive systematic urination training, we
were unable to assess the lower urinary tract
symptoms, such as urgency or urinary incon-
tinence. In addition, most of the symptoms
were reported by the parent or the caregiver,
which may have introduced an element of
bias.
We conclude that CS has a complex
phenotype. The diagnosis and treatment ne-
cessitates multidisciplinary collaboration.
Urologists play an important role in protect-
ing renal function, preventing progression
Currarino syndrome treatment 111
Vol. 62(2): 103 - 111, 2021
to end-stage renal disease, and in prolonging
life expectancy. Patients with CS often ex-
hibit sacral nerve development abnormality
or injury to sacral nerves. VUDS assessment
may help detect lower urinary tract dysfunc-
tion before the onset of lower urinary tract
symptoms. A comprehensive urological in-
tervention plan should be formulated based
on the results of VUDS assessment.
ACKNOWLEDGEMENT
General Project of Jiangsu Commission
of Health (Grant No. H2017067), Project of
Suzhou Science and Technology Plan (Grant
No.SYSD2019117).
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