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Radiology Case Reports 17 (2022) 4636–4641
Available online at www.sciencedirect.com
journal homepage: www.elsevier.com/locate/radcr
Case Report
Caudal regression syndrome: Postnatal radiological
diagnosis with literature review of 83 cases
✩ , ✩✩
Hana’ Qudsieh, MD
a , ∗
, Emad Aborajooh, MD
b
, Abdallah Daradkeh
c
a
Department of Medicine and Radiology, Faculty of Medicine, Mutah University, Karak, 61710, Jordan
b
General Surgery and Anesthesia Department, Faculty of Medicine, Mutah University, Karak, 61710, Jordan
c
Faculty of Medicine, Mutah University, Karak, 61710, Jordan
Article history:
Received 11 August 2022
Revised 5 September 2022
Accepted 11 September 2022
Keywords:
Caudal regression
Sacral agenesis
Anal atresia
Imperforated anus
VACTERL anomalies
Genitourinary anomalies
Renal agenesis
CRS
Caudal regression syndrome (CRS) is a rare congenital disorder characterized by arrest of
caudal spinal growth and associated with wide spectrum multisystemic anomalies. Herein,
we presented a case of a newborn baby who did not pass meconium due to imperforated
anus and was referred to the pediatric surgeon for urgent diverting loop colostomy. The con-
ventional X-ray, abdominal ultrasound and abdominal pelvic magnetic resonance imaging
(1.5 T) at 2-month-old age revealed right kidney agenesis, sacrococcygeal agenesis, vertebral
bodies dysraphism and the spinal cord ends at D12-L1 with anterior and posterior bands of
the terminating laments. The diagnosis of CRS was conrmed. Through this case report,
we hope to draw attention to this rare syndrome and the wide range of associated anoma-
lies, also to consider this syndrome on the top of differential diagnosis list once the newborn
has anorectal malformation mainly imperforated anus.
© 2022 The Authors. Published by Elsevier Inc. on behalf of University of Washington.
This is an open access article under the CC BY-NC-ND license
( http://creativecommons.org/licenses/by-nc-nd/4.0/ )
Introduction
Caudal regression syndrome (CRS) is a rare congenital dis-
order with incidence around 1-2:100,000 [1] . It was rst de-
scribed by Geoffroy Saint-Hilaire and Hohl in 1852 [1] . It
Abbreviations: CRS, Caudal regression syndrome; DM, Diabetes mellitus; GIT, Gastrointestinal tract; VACTERL, Ver teb ral defects, Anal
atresia, Cardiac defects, Esophageal atresia with or without tracheoesophageal stula, Renal and Limb anomalies); NVD, Normal vagi-
nal delivery; ARM, Anorectal malformation; MSK, Musculoskeletal; VCUG, Voiding cysto urethrogram; MRI, Magnetic resonance imaging
technique; NA, Not available; Lt, Left.; NICM, Non-iodinated contrast media; Rt, Right; T2 WI’s, T2-weighted images; VUR, Ves ico ureteral
reux; VSD, Ventricular septal defect; ASD, Atrial septal defect; PDA, Patent ductus arteriousus.
✩ Competing Interests: The authors declare that they have no competing interests.
✩✩ Funding: The authors declare that they have no funding.
∗Corresponding author.
E-mail addresses: hanaqudsieh@mutah.edu.jo , hqud_80@yahoo.com (H. Qudsieh).
consists of a spectrum of structural defects of the cau-
dal spinal region either closed or open spinal dysraphism
[2 ,3] . CRS includes incomplete development of the sacrum
and sometimes involves lumbo-thoracic spine in variable de-
gree [1–6] . Patients with CRS may have also cord tethering
[7 ,8] .
https://doi.org/10.1016/j.radcr.2022.09.037
1930-0433/© 2022 The Authors. Published by Elsevier Inc. on behalf of University of Washington. This is an open access article under the
CC BY-NC-ND license ( http://creativecommons.org/licenses/by-nc-nd/4.0/ )
Radiology Case Reports 17 (2022) 4636–4641 4637
Var i a ble degree of caudal regression can be associated with
other syndromes like; VAC T ERL (Vertebral defects, Anal atre-
sia, Cardiac defects, Esophageal atresia with or without tra-
cheoesophageal stula, Renal and Limb anomalies), OIES syn-
drome, Currarino syndrome, and Mayar Rockitanski Kauser
Hauser syndrome MRKHS [9–11] . The clinical presentations of
CRS are variable according to the level of spinal lesion and
the presence of associated anomalies. Affected infants appear
typically to have a small pelvis, small at buttocks and bilat-
eral buttock dimples with a short intergluteal cleft. Also, pa-
tients may have neurogenic bladder and variable degrees of
limb deformity [1–5] .
Although the mechanism stills unclear, baby born for dia-
betic mothers has 200-400-fold increased risk of CRS [3] . How-
ever, most CRS cases are born for non-diabetic mothers [3 ,4] .
At embryonic level, it is strongly believed that CRS is a result
of defects in the development of caudal elements prior to the
fourth week of gestation [6–8] . This defect is due to injury in
the mesodermal axis leading to variable degree of arrest in the
development of the caudal mesoblastic yolk [6–8] . Maternal di-
abetes, hypoperfusion, toxins and genetic predisposition have
been suggested as possible causes for this injury [2 ,3 ,6–8 ].
We present a case of newborn with CRS and VACTERL as-
sociation that was diagnosed postnatally. A thorough search
among the published literature using PubMed search engine
was done.
Case presentation
A male newborn weighing 3 kg was referred to the pediatric
surgery team with diagnosis of imperforated anus. The full-
term newborn was vaginally delivered for primigravida other-
wise healthy 22-year-old lady. The pregnancy went unevent-
fully. He was the offspring of non-consanguineous parents.
He was admitted to neonatal intensive care unit, started on
intravenous uid and investigations were done to rule out
other anomalies. Clinically he showed no dysmorphic cranio-
facial features and no abnormalities in both upper and lower
limbs with normal heart sounds. His chest X-rays showed nor-
mal both lung elds and nasogastric tube in the stomach. Ab-
domen and pelvis X-rays revealed dilated bowel loops with ab-
sence of gas in the pelvis. Multiple vertebral spine anomalies
were recognized as hemivertebrae, buttery vertebrae, spina
bida in the thoraco-lumbo-sacral spine, 13 ribs, scoliosis and
partial sacrococcygeal agenesis or dysgenesis ( Figs. 1 A-C).
Moreover, ultrasonic examination of the abdomen revealed
aplastic right kidney, otherwise grossly normal solid organs.
Echocardiogram was normal as well. After 24 hours, a divert-
ing loop colostomy in the left upper quadrant was performed.
The newborn hospitalized for 11 days then discharged with
stable condition. Two months later, MRI abdomen pelvis and
lumbar spine was done using SIMENS 1.5 Tesla. Adapted se-
quences were: Sagittal: T1WI’s, T2WI’s, STIR/ Axial: T1WI’s,
T2WI’s/ Coronal: T2WI’s fat suppression. The ndings shown
in Figure 2 , right kidney agenesis, sacrococcygeal agenesis and
the spinal cord ends at D12-L1 with anterior and posterior
bands of the terminating laments.
Discussion
CRS is a rare congenital disorder results from abnormal caudal
spinal growth [12 ,13] . According to OMIM, the inheritance is
Autosomal dominant AD on gene VANGL1/ LOCATION 1P13.1.
[14] .
CRS is dened also in some literatures as “heterogeneous
constellation of congenital caudal anomalies affecting the
caudal spine, spinal cord, hindgut, urogenital system and
lower limbs” [13 ,14] . The former denition mixed up the CRS
with its associated anomalies, therefor the radiological def-
inition of CRS for only “the caudal spinal growth regres-
sion” should be used in a separate picture from its associated
anomalies [5] . Va r i a ble degree of spinal caudal regression can
be seen in association with other syndromes [5 ,9–11 ]. The fol-
lowings syndromes are associated with CRS:
1. VAC T ERL associations: Vert ebral defects, Anal atresia, Car-
diac defects, Esophageal atresia with or without tracheoe-
sophageal stula, Renal and Limb anomalies [5] .
2. OIES syndrome or cloacal exstrophy is a rare congenital
anomaly that affects the lower abdominal wall structures
of infant in utero. Four features of OEIS Complex include:
Omphalocele, Exstrophy of bladder and rectum, Imperfo-
rated anus, and Spinal defect [9] .
3. Currarino syndrome: it is a triad of ndings that con-
sist of partial sacral dysgenesis, presacral mass (ante-
rior meningocele, enteric cyst, or presacral teratoma)
and anorectal malformation [10] .
4. Mayar Rockitanski Kauser Hauser Syndrome MRKHS, es-
pecially type II, congenital absence of uterus and upper
vagina with normal appearing ovaries and fallopian tubes.
It may be associated with non-gynecological anomalies
as cardiac, urological, skeletal, vertebral systems including
sacrococcygeal agenesis [11] .
Although, there is an increased risk of CRS among ba-
bies born for diabetic mothers, our patient was born for non-
diabetic mother.
CRS diagnosis can be conrmed antenatally in the rst
trimester by noting a short Crown Rumb Length [12] . Sono-
graphic fetal anomalies detailed scan between 18 and 22
weeks of gestation is very helpful in diagnosis of CRS. Scan
ndings that is suggestive of CRS include sacrococcygeal dys-
genesis with blunt end conus medullaris [2] . Also, the scan
may reveal other CRS associated anomalies as renal agene-
sis or limb anomalies [2] . Unfortunately, in our present case,
CRS was diagnosed postnatally as the scan was not done an-
tenatally. The postnatal investigations that were done due to
the presence of imperforated anus in our present case reveal
the diagnosis of CRS/VACTERL association.
The neuroradiological picture of CRS is variable and de-
pends upon the extent of the disease and the site of spinal
regression ranging from mild sensory and motoric decit of
the lower limbs to neurogenic bladder and fecal incontinence
as well as limb paralysis with xed abnormal limb position
[4 ,2 ,13] . Syrinomelia (fused lower limbs) was considered in
some literature as severe form presentation of CRS [1 ,13] .
Our present case had CRS with VACTERL association i.e.
sacral agenesis with left renal agenesis, imperforated anus
4638 Radiology Case Reports 17 (2022) 4636–4641
Fig. 1 –(A) Anterior view X-ray at day of birth showed dilated large and small bowel with absence of gas in the pelvis,
multiple vertebral spine anomalies (hemi-vertebrae, buttery vertebrae spina bida, 13 ribs, scoliosis and sacrococcygeal
agenesis or dysgenesis), (B) lateral view X-ray showed caudal regression (red arrow), and (C) 9 days post-diverting
colostomy, showed signicant reduction of bowel caliber.
Fig. 2 –(A) MRI coronal T2 WI’s fat suppression showed Rt kidney aplasia with spinal scoliosis, (B) sagittal T2WI’s the cords
end at D12-L1 with anterior and posterior bands inferior to conus medullaris (blue arrow), sacrococcygeal dysgenesis (red
arrow) was noted as well.
Radiology Case Reports 17 (2022) 4636–4641 4639
Table 1 –The presence of different multisystemic CRS-associated anomalies for 83 cases of 46 papers in our literature
review.
Author and year Age Gender Maternal
DM
Spine and cord
anomalies
Limb
anomalies
GI
anomalies
Cardiorespiratory
anomalies
Genitourinary
anomalies
(Karthiga et al., 2021) 8 months Male Ye s Ye s Yes No No No
(Khushdil et al., 2017a) Newborn Female Ye s Yes Ye s Ye s No Yes
(Mehdi et al., 2021a) Newborn Male Yes Yes Ye s No Ye s Yes
(Sharmin et al., 2018) Newborn Male Yes Yes Ye s No No No
(Aggarwal et al., 2012) 3 years Male No Yes Ye s No No No
(Islam et al., 2017) Infant NA No Yes Ye s Ye s No Yes
(Shojaee et al., 2021) 32 weeks
stillbirth
NA No Yes Ye s Ye s No Yes
(Akhaddar, 2020) 2 years Male Yes Ye s Ye s No No No
(Ponde et al., 2021) 14 months Male NA Yes No No No No
3 years Male NA Ye s No No No No
3 days Male NA Yes No Ye s No No
(Bicakci et al., 2014a) 30 months Fema le Ye s Ye s Yes No No Ye s
(Puneeth et al., 2014) 10 months Fema le Ye s Ye s No No No No
(Szumera et al., 2018) 6 years Femal e NA Ye s Ye s No No Yes
6 years Male NA Ye s Ye s No No Yes
(Seidahmed et al., 2014) Newborn Female No Ye s Yes Ye s Ye s Yes
Newborn NA No Yes Yes Ye s No Ye s
31-week
preterm
newborn
NA No Yes Ye s Ye s Yes Ye s
35 weeks
preterm
newborn
NA No Yes Ye s Ye s No Yes
14 years Female Ye s Ye s Yes No No Ye s
4 years Female No Ye s Ye s No Yes Ye s
(Zaw & Stone, 2002) Newborn NA Ye s Ye s Yes No No No
(Bicakci et al., 2014b) 30 months Fema le Ye s Ye s Yes No No Ye s
(Duesterhoeft et al., 2007) Infant Male NA Yes Ye s Ye s Yes Ye s
20 weeks
gestation
NA NA Yes Ye s Yes Yes Ye s
stillborn at 23
weeks
NA NA Yes Ye s No Yes Yes
Infant Female NA Yes No Ye s No Ye s
Infant Male NA Yes Ye s No No Ye s
(Fukada et al., 1999) 6 weeks Femal e NA Ye s Ye s No No No
(Gedikbasi et al., 2009) Stillbirth NA NA Yes Ye s Ye s No No
(Griffet et al., 2011) 1 year Male No Yes Ye s No No Ye s
(Das et al., 2002) Newborn Male No Yes Yes Ye s Ye s Yes
(Duh et al., 2007) 10 days Male No Yes Ye s Ye s No Yes
(Lorenzo et al., 1991) Newborn Male No Ye s Yes Yes No Ye s
(Miller, 1972) Newborn Male No Yes No No No Ye s
(Romeo et al., 2000) Newborn Female No Ye s Yes Ye s No No
(Mihmanli et al., 2001) 3 months Fema le Ye s Ye s Yes No No Ye s
(Bouchahda et al., 2017) Newborn Male Ye s Ye s Yes No Ye s No
(Martucciello et al., 2004) Newborn Fem ale NA Yes No Yes No Ye s
Newborn Female NA Yes No Ye s No No
Newborn Female NA Yes No Ye s No Ye s
Newborn Female NA Yes No Ye s No Ye s
Newborn Female NA Yes No Ye s No Ye s
Newborn Male NA Yes No Yes No No
(Shah et al., 2006) 3 years NA No Ye s No No No No
(Pappas et al., 1989) Newborn Male NA Ye s Yes No No Ye s
(Guirgis et al., 2003) 10 weeks Femal e No Yes Ye s Ye s No Yes
(Turnock & Brereton, 1991) 2 days Male NA Ye s No No No Ye s
(Tsugu et al., 1999) 6 months Fema le NA Ye s Yes Yes No Ye s
(Singer et al., 2005) Newborn NA NA Yes Ye s No Ye s Yes
(Rubenstein & Bucy, 1975) 15 months Male NA Ye s Yes No No Yes
Newborn Female NA Yes Ye s No No Ye s
5 years NA NA Ye s No No No Ye s
(Bohring et al., 1999). 20 weeks Femal e No Yes Ye s Yes No No
Infant Male No Yes Ye s No Ye s Yes
Infant NA Yes Ye s Ye s No No Yes
Infant Female NA Ye Ye s Yes No Ye s
Newborn Male Yes Yes Ye s Ye s Yes Ye s
Newborn Male No Yes Yes No No Ye s
Infant Female No Yes Ye s No Ye s No
Newborn Female No Ye s Yes Ye s No Ye s
Stillborn 22
weeks
Male No Yes Ye s No No Ye s
Stillborn NA No Yes Ye s No No No
Stillborn Male No Yes Ye s No No No
Infant Male No Yes No No Ye s No
Infant NA Yes Ye s Ye s Yes No Ye s
Infant Female No Yes Ye s IA Ye s Yes
Infant Female No Yes Ye s No Ye s No
( continued on next page )
4640 Radiology Case Reports 17 (2022) 4636–4641
Table 1 ( continued )
Author and year Age Gender Maternal
DM
Spine and cord
anomalies
Limb
anomalies
GI
anomalies
Cardiorespiratory
anomalies
Genitourinary
anomalies
(Khushdil et al., 2017) Newborn Female No Ye s No No No Yes
(Tubbs & Oakes, 2006) Newborn Male Yes Ye s Ye s No Yes Ye s
(Yegin et al., 2005) 9 days Male Ye s Ye s Yes No Ye s Ye s
(Toguri et al., 1981) 4 years Fema le NA Ye s Ye s Yes No Ye s
(Hentschel et al., 2006) Newborn Male No Ye s Ye s No Yes Ye s
(Krenova et al., 2010) Infant Fem ale Ye s Yes Ye s No No Ye s
(Hirano et al., 1998) Infant Fe male No Ye s Yes Ye s No Ye s
34 months Fema le NA Ye s Yes Yes Ye s Yes
(Towghi & Housman, 1991) Newborn NA No Ye s Ye s Yes No Ye s
Newborn NA No Yes Yes Ye s Ye s Yes
Newborn NA No Yes Yes Ye s Ye s Yes
Newborn NA Yes Yes Ye s Ye s No Yes
(Kokrdova, 2013) 18-week
gestational age
NA Yes Ye s Ye s No No Yes
20-week
gestational age
Female Yes Ye s Ye s No Yes Ye s
(Gonzalez et al., 1985) Newborn Male Yes Yes Ye s Ye s No Yes
(Mehdi et al., 2021) Newborn Male Yes Yes Ye s No Ye s Yes
and multilevel vertebral anomalies (dysraphism). The low
level spinal regression in our cases with absence of dysmor-
phic facial gluteal and limb clinical features, the presence of 3
components of VACT E RL association, the presence of thirteen
ribs and vertebral dysraphism characterize our present case.
Literature review
A thorough search among the published literature using
PubMed search engine using “caudal regression syndrome”
keywords with human and English language lters results
in about 46 applicable articles present 83cases of postna-
tal diagnosis of CRS. The following data were collected for
each patient: age, gender, maternal diabetes, and the pres-
ence of associated congenital anomalies namely; spine and
cord anomalies, limb anomalies, gastroenterology anoma-
lies, genitourinary anomalies and cardiorespiratory anoma-
lies ( Table 1 ). About 65% of cases were diagnosed within the
rst month postnatally, while 85% were diagnosed within
the rst year, less than 1% diagnosis delayed to the puberty
age. Almost all patients who were diagnosed within the rst
month of life, had either imperforated anus or apparent limb
anomalies. Additionally, there was no gender predilection.
Only one third of cases delivered for diabetic mother. All re-
viewed patients had partial or complete sacral agenesis (The
main criteria for CRS diagnosis) which was diagnosed either
antenally by ultrasound or postnatally by conventional X-ray
and MRI; however, associated higher level of spinal agenesis
was not rare.
The most common spine and CNS anomalies which were
identied in our review includes: bony vertebral dysraphism
(hypoplastic vertebrae, vertebral fusion, hemi vertebra and
buttery vertebrae), tethered cord, and high abrupt termina-
tion of the spinal cord at various levels and spinal column
malalignment (scoliosis and kyphosis).
About 81% of patients had limbs and other bones anoma-
lies (excluding the spine anomalies), the lower limb was in-
volved primarily in all these patients. Short limb, talipes eqi-
novarus, popliteal webbing and abnormal posture were fre-
quent limb ndings. The incidence of genito-urinary anoma-
lies was 72%, the most common is renal agenesis followed by
neurogenic bladder, variable degree of hypoplastic /dysplastic
urinary system and external genatalia agenesis/dysgenesis.
About 42% of patients had gastroenterology anomalies, the
most common is ano-rectal malformation, and imperforated
anus was the most encountered gastrointestinal anomaly.
Rectal stula and esophageal atresia were not uncommon.
The cardiovascular and respiratory anomalies were seen in
24% of patients. The most common associated cardiac anoma-
lies were: patent ductus arteriousus, ventricular septal de-
fect, arterial septal defect, pulmonary hypoplasia/dysplasia
and the vascular anomalies which involved the pulmonary
artery, and aorta with its branches.
Dysmorphic facial features like Potter face, abnormal
gluteal contour, shallow natal cleft and posterior dimple was
seen in less than13%.
This literature review showed the wide variation of pa-
tients radiological and clinical presentation of congenital
anomalies associated with CRS.
Conclusion
CRS is a rare congenital anomaly that may be associated with
wide spectrum of multisystem anomalies. It should be consid-
ered in patient with imperforated anus. CRS assessment can
be done by X-rays, ultrasound and MRI. X-rays is more infor-
mative for vertebral dysraphism and bony anomalies in new-
born compared to MRI (1.5 Tesl a ).
Ethics approval
Our research was approved by institutional ethics committee.
Radiology Case Reports 17 (2022) 4636–4641 4641
Consent for publication
Our research does not contain any personal data, photos or
clinical trial for medication or radiation or any hazard; how-
ever, written consent form was signed by both parents, more-
over agreement of institutional ethics committee.
Availability of data and material
The data that support the ndings of this study are avail-
able from the computerized patient medical archived le in
the hospital, but restrictions apply to the availability of these
data, which were used under license for the current study, and
so are not publicly available. Data are however available from
the authors upon reasonable request and with permission of
[M.O.H hospitals].
Authors’ contributions
All authors have made substantial contributions to the con-
ception, design of the work; acquisition, interpretation of data,
they have drafted and revised it, and they have approved the
submitted version and the modied version.
Patient consent
The parents of the newborn patient agreed (without any nan-
cial compensation/award) to use and publish the radiological
images as well as the clinical data of their son without men-
tion any personal data like patient name, family name, date
of birth or hospital also no personal photo were allowed to be
published.
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