ArticlePDF Available

Caudal regression syndrome: Postnatal radiological diagnosis with literature review of 83 cases ✩ , ✩✩

Authors:

Abstract and Figures

Anal atresia Imperforated anus VACTERL anomalies Genitourinary anomalies Renal agenesis CRS a b s t r a c t 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 conventional 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 filaments. The diagnosis of CRS was confirmed. Through this case report, we hope to draw attention to this rare syndrome and the wide range of associated anomalies , also to consider this syndrome on the top of differential diagnosis list once the newborn has anorectal malformation mainly imperforated anus.
Content may be subject to copyright.
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 conrmed. 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
reux; 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, buttery vertebrae, spina
bida 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 dened 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 denition 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 conrmed 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 decit 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, buttery vertebrae spina bida, 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 signicant 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
(Towghi & 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
identied in our review includes: bony vertebral dysraphism
(hypoplastic vertebrae, vertebral fusion, hemi vertebra and
buttery 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 modied 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.
REFERENCES
[1] Bhatt S, Ta n don A, Kumar Singh A, Manchanda S, Jain S,
Meena N, et al. Caudal regression syndrome. J Diagn Med
Sonogr 2016;33(2):130–3. doi: 10.1177/8756479316677012 .
[2] Kumar Y, Gupta N, Hooda K, Sharma P, Kochar P, Hayashi D,
et al. Caudal regression syndrome: a case series of a rare
congenital anomaly. Pol J Radiol 2017;82:188–92.
doi: 10.12659/pjr.900971 .
[3] Kylat R, Bader M. Caudal regression syndrome. Children
2020;7(11):211. doi: 10.3390/children7110211 .
[4] Boulas M. Recognition of caudal regression syndrome. Adv
Neonatal Care 2009;9(2):61–9.
doi: 10.1097/anc.0b013e31819de44f.
[5] Barkovich A , Moore K ,Grant E . Diagnostic imaging: pediatric
neuroradiology. 3rd ed. Philadelphia: Elsevier; 2019. chapter
6 .
[6] Singh S, Singh R, Sharma A. Caudal regression
syndrome—case report and review of literature. Pediatr Surg
Int 2005;21(7):578–81. doi: 10.1007/s00383- 005- 1451- 4 .
[7] Kapoor S, Pradhan G, Gautam V, Ratan S, Singh A. Scoliotic
deformity and asymptomatic cervical syrinx in a 9 year old
with caudal regression syndrome. J Pediatr Neurosci
2012;7(3):191. doi: 10.4103/1817-1745.106476 .
[8] Aslan H, Ya nik H, Celikaslan N, Yildirim G, Ceylan Y. Prenatal
diagnosis of caudal regression syndrome: a case report. BMC
Pregnancy Childbirth 2001;1(1):8. doi: 10.1186/1471- 2393- 1- 8 .
[9] Keppler-Noreuil K. OEIS complex
(omphalocele-exstrophy-imperforate anus-spinal defects): a
review of 14 cases. Am J Med Genet 2001;99(4):271–9.
doi: 10.1002/1096-8628(2001)9999:9999 00::
aid- ajmg1094 3.0.co;2- # .
[10] Caro-Domínguez P, Bass J, Hurteau-Miller J. Currarino
syndrome in a fetus, infant, child, and adolescent: spectrum
of clinical presentations and imaging ndings. Can Assoc
Radiol J 2017;68(1):90–5. doi: 10.1016/j.carj.2016.05.007 .
[11] Boruah D. Spectrum of MRI appearance of
Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome in
primary amenorrhea patients. J Clin Diagn Res
2017;11(7):TC30–5. doi: 10.7860/jcdr/2017/29016.10317 .
[12] Bouchahda H, Mhabrech H, Hamouda H, Ghanmi S,
Bouchahda R, Soua H. Prenatal diagnosis of caudal
regression syndrome and omphalocele in a fetus of a
diabetic mother. Pan Afr Med J 2017;27:128.
doi: 10.11604/pamj.2017.27.128.12041 .
[13] Lyn ch S. Autosomal dominant sacral agenesis: Currarino
syndrome. J Med Genet 2000;37(8):561–6.
doi: 10.1136/jmg.37.8.561 .
[14] OMIM Online Mendelian Inheritance in Man. Omim.org.
Available at: https://www.omim.org/ . 2022. Accessed
February 10, 2022.
... The field of view of lumbosacral spine MRI has to be extended to include the retroperitoneal structures of the genitourinary system as well as the anorectal region due to the high occurrence of associated anomalies in these structures. Associated genitourinary anomalies have been reported in 72-75% of caudal regression cases in various series [16,17]. Several renal anomalies have been reported in association with caudal regression syndrome ( Fig. 9) [18]. ...
... All types of mullerian anomalies may potentially be associated with caudal regression syndrome. Gastrointestinal anomalies are associated with caudal regression syndrome in 42-65% of cases [16,17]. Some distinct syndromes have been defined with associated gastrointestinal anomalies [18,19]. ...
... These anomalies do not affect the prognosis or require any surgical treatment or follow-up. Orthopedic anomalies are associated with caudal regression syndrome in 75-81% of cases [16,17]. Ankle and foot anomalies including congenital talipes equinovarus as well as several orthopedic issues including flexion contractures, hip dislocation, kyphoscoliosis, absent ribs, and abdominal wall defects are also frequently associated with caudal regression syndrome [3]. ...
Article
Full-text available
Caudal regression syndrome is a form of segmental spinal dysgenesis involving the caudal spinal column, ranging from segmental coccygeal agenesis to extensive thoracolumbar agenesis with varying degrees of spinal cord dysgenesis. A majority of caudal regression cases are sporadic but maternal pre-gestational diabetes mellitus is an important risk factor. Imaging is an integral part of management of caudal regression syndrome. Antenatal diagnosis on obstetric ultrasound and evaluation with fetal MRI is ideal. Early postnatal diagnosis and/or detailed evaluation with MRI is essential for early management to improve outcomes. Pang classification categorizes caudal regression syndrome into two categories based on the position of the conus while Renshaw classification is based on the degree of vertebral column agenesis. Caudal regression syndrome may be associated with several additional anomalies, both spinal and extraspinal. A number of genitourinary and gastrointestinal anomalies have been described in association with caudal regression syndrome. The field of view of MRI of the lumbosacral spine in caudal regression syndrome needs to be extended to visualize the retroperitoneal structures without the use of a saturation band. Syndromic associations may be suspected, and additional imaging performed, based on findings of extended field of view MRI of the spine. Associated sacral masses and filar abnormalities need to be identified and may also require surgical treatment. The multisystem nature of this disease necessitates a multimodality approach to the evaluation and management of caudal regression syndrome with close cooperation between pediatric neuroradiologists and body radiologists as well as multiple clinical teams. Appropriate early management with surgical correction as necessary can significantly improve prognosis and survival in caudal regression syndrome. Graphical abstract
... CRS is also sometimes referred to in the literature as caudal dysplasia sequence, sacral regression syndrome or sacral agenesis. The estimated incidence of CRS ranges from 1 to 2 per 100,000 live births, with an equal distribution between genders [1,2]. Several maternal risk factors have been identified that can increase the likelihood of CRS, including folate deficiency, maternal obesity, and exposure to teratogenic medications during pregnancy. ...
... Mild clinical presentations may even go undetected until adulthood. According to a recent case review by Qudsieh et al., the majority of diagnoses occur during infancy, typically within the first year of life, although there are rare instances where patients are diagnosed after puberty [2]. Early diagnosis of CRS is critical for ensuring optimal clinical outcomes and enhancing the patient's quality of life through timely medical interventions. ...
... The clinical presentation of CRS varies widely, ranging from asymptomatic cases to severe neurological deficits, and encompassing genitourinary, gastrointestinal, and musculoskeletal anomalies and symptoms. It is noteworthy that adults with CRS may either remain asymptomatic or develop symptoms later in life, such as lumbosacral pain, perineal discomfort, or enuresis attributed to tethered cord syndrome [2,7,8]. ...
Article
Full-text available
Background: Caudal regression syndrome (CRS) is a rare congenital malformation characterized by incomplete development of the lower spine and spinal cord. Its estimated incidence ranges from 1 to 2 per 100,000 live births, leading to a spectrum of clinical presentations. Although most cases are diagnosed during childhood, only a small number of cases have been documented in adults in the medical literature. Case Report: A 27-year-old woman underwent an outpatient magnetic resonance imaging (MRI) of the thoracolumbar spine due to severe lower back pain experienced for the first time. Despite congenital leg abnormalities and multiple childhood surgeries, no further investigations were conducted at that time. MRI revealed congenital anomalies consistent with CRS, including coccygeal agenesis, L5 sacralization, and spinal cord defects. The patient also had a long-standing pilonidal cyst treated conservatively, now requiring operative treatment due to an abscess. Conclusions: This report underscores a rare case of CRS initially misdiagnosed and mistreated over many years. It emphasizes the importance of considering less common diagnoses, especially when initial investigations yield inconclusive results. This clinical case demonstrates a highly valuable and educative radiological finding. In the literature, such cases with radiological findings in adults are still lacking.
... Caudal regression syndrome is a rare disorder, with an incidence of about 1-2:100,000 according to some authors, or 1:60,000 live births according to others [3,6,9,10]. This defect is more common in boys, with an M:F ratio of 2.7:1, but in a recent review of 83 cases, there was no gender predilection [3,10]. ...
... Caudal regression syndrome is a rare disorder, with an incidence of about 1-2:100,000 according to some authors, or 1:60,000 live births according to others [3,6,9,10]. This defect is more common in boys, with an M:F ratio of 2.7:1, but in a recent review of 83 cases, there was no gender predilection [3,10]. The most common CRS defect is sacral agenesis (partial or total), with an incidence of less than 0.5% [11]. ...
... It is possible that morphogenesis disorders affecting the spine and the distal gastrointestinal tract may have a similar (or the same) genetic background since both often occur together. CRS was observed in several congenital syndromes, e.g., Currarino syndrome, VACTERL (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities) or OIES syndrome (omphalocele-exstrophy of the cloaca-imperforate anus-spinal defects) [10,[25][26][27]. In OIES syndrome, a defect involving the intraembryonic mesoderm is suspected, with a possible dependence on mutations within the homeobox genes, such as HLXB9 [26]. ...
Article
Full-text available
Abnormalities in cellular differentiation during embryo-fetal period may lead to various malformations of the spine. Caudal regression syndrome (CRS) is a group of defects with premature growth/development termination of the vertebral column. CRS can be divided into three types: sirenomelia, complete absence of the sacrum and partial absence of the sacrum. Genitourinary and gastrointestinal anomalies are common, with neurogenic bladder and bowel incontinence. Treatment of patients with CRS is complex and multidisciplinary and should be comprehensive. The most common orthopedic problems are: spinal deformity (kyphosis and scoliosis), spinopelvic instability and lower limbs deformities.
... The patients may present with a variety of skeletal malformations, with clinical manifestation as shortened trunk, flexion-rotationabduction contracture of the hip joints, flexion contracture of the knee joints, and clubfeet [7]. CRS can also manifest as a range of multisystemic malformations, including those affecting the genitourinary tract and its neural inputs, neural tube, and anorectal and cardiovascular systems [8]. Maternal ultrasound allows prenatal diagnosis, and fetal MRI can be used to confirm the syndrome [9]. ...
... The pathophysiology underlying the association between CRS and genitourinary anomalies is not yet fully understood. It is believed to result from defects in the embryonic development of caudal elements, occurring before the fourth week of gestation, due to injury in the mesodermal axis, leading to arrested development of the caudal mesoblastic yolk [8]. Therefore, when diagnosing vertebral or sacral malformations, it becomes essential to screen for potential anorectal and genitourinary abnormalities [10]. ...
Article
Full-text available
Patient: Female, 13-year-old Final Diagnosis: Distal vaginal atresia Symptoms: Amenorrhea • pelvic mass • pelvic pain Clinical Procedure: — Specialty: Obstetrics and Gynecology Objective Congenital defects/diseases Background Caudal regression syndrome (CRS) is a rare anomaly characterized by maldevelopment of the caudal half of the body and can involve the genitourinary system. This report presents the case of a 13-year-old girl diagnosed with CRS and previously unknown distal vaginal atresia, presenting with monthly pelvic pain. Case Report A 13-year-old pre-menarcheal patient with CRS sought emergency care due to debilitating monthly pelvic pain persisting for 3 months. Pelvic examination revealed the absence of a vaginal opening, and a rectal exam showed a 5-cm large bulge anteriorly, along with a 2-cm fibrous septum in the distal portion of the vagina. Pelvic ultrasound and magnetic resonance imaging confirmed the presence of hematometrocolpus and hematosalpinx on the right adnexa, while the left ovary was not identified. Treatment commenced with fixed anal-gesia and combined continuous oral contraception. Due to the persistent pain and uncertainty regarding the anatomy of the internal reproductive organs, diagnostic laparoscopy with drainage of the hematocolpus was performed 2 weeks later. Six months later, after multidisciplinary discussion, definitive surgery (pull-through vaginoplasty) was carried out, allowing for emotional preparation for postoperative dilation. One year after the definitive surgery, the patient remains asymptomatic, experiencing regular withdrawal bleeding with no signs of obstruction. Conclusions Patients with musculoskeletal anomalies should undergo urogenital tract evaluation. Timely identification of distal vaginal atresia is pivotal for devising appropriate treatment and averting complications. During the acute phase, laparoscopic drainage can alleviate symptoms and clarify anatomy, without compromising the success of subsequent definitive surgery.
... The atypicality of the direct and indirect signs of anal atresia accounts for the low accuracy of prenatal ultrasound diagnosis [19][20][21]. To some extent, anal atresia is more accurately diagnosed by MRI than by ultrasound [22]. ...
Article
Objective: Caudal regression syndrome (CRS) is a rare and fatal anomaly that can easily be missed in prenatal two-dimensional (2D) ultrasonography. This retrospective analysis aimed to determine the performance of combined 2D and three-dimensional (3D) ultrasound for the prenatal diagnosis of CRS. Methods: We retrospectively analyzed 168 fetuses diagnosed with spinal lesions by combined 2D and 3D ultrasound at the First Affiliated Hospital of Anhui Medical University from January 2016 to June 2022. We analyzed the sonographic characteristics of these cases and assessed the diagnostic value of ultrasound in fetal CRS. Results: Fourteen fetuses were confirmed to have CRS after labor induction and postpartum, and 13 of these were correctly identified by prenatal ultrasound imaging. The sensitivity, specificity, accuracy, and Youden index of prenatal ultrasound were 85.7%, 93.5%, 92.9%, and 0.79, respectively. Conclusion: The typical prenatal sonographic features of CRS include different degrees of lumbar and sacrococcygeal spine loss combined with abnormal lower limb development. Prenatal ultrasound can assess the extent and location of lesions, highlighting its high diagnostic value.
Article
Full-text available
Caudal Regression Syndrome (CRS) or Caudal dysgenesis syndrome (CDS) is characterized by maldevelopment of the caudal half of the body with variable involvement of the gastrointestinal, genitourinary, skeletal, and nervous systems. CRS affects 1–3 newborn infants per 100,000 live births. The prevalence in infants of diabetic mothers is reported at 1 in 350 live births which includes all the variants. A related condition is sirenomelia sequence or mermaid syndrome or symmelia and is characterized by fusion of the legs and a variable combination of the other abnormalities. The Currarino triad is a related anomaly that includes anorectal atresia, coccygeal and partial sacral agenesis, and a pre-sacral lesion such as anterior meningocele, lipoma or dermoid cyst. A multidisciplinary management approach is needed that includes rehabilitative services, and patients need a staged surgical approach.
Article
Full-text available
Introduction: Mayer-Rokitansky-Kuster-Hauser (MRKH) synd-rome is a malformation in female genital tract due to interrupted embryonic development of para-mesonephric ducts leading to uterine and proximal vagina aplasia or hypoplasia. Aim: To analyse the MRI findings in females suspected of MRKH syndrome in a primary amenorrhea workup. Materials and methods: A cross-sectional study comprising of 11 patients of MRKH syndrome presented in a tertiary care centre from March 2016 to February 2017 evaluated in 1.5 Tesla MRI scanner. Results: Normal positioned small vestigial uterus demonstrated in two patients (18.2%) and complete uterine and proximal vaginal agenesis were noted in nine patients (81.8%). The mean volume of rudimentary right uterine bud was 2.26 mL ±3.3 (SD) and left uterine bud was 1.27 mL±1.1 (SD). The mean volume of right ovary was 4.74 mL±2.58 (SD) and left ovary was 4.65 mL±2.2 (SD). The mean developed vaginal length was 26.2 mm±6.34 (SD). Conclusion: The rudimentary uterine buds associated with MRKH syndrome always maintained caudal relationship with ovary. Ovaries or rudimentary uterine buds can be ectopic and should be recognized with MRI before undergoing fertility treatment. Following MRI diagnosis, surgery allows patients to have sexual function with possible attainment of reproduction after assisted reproduction technique or surrogacy.
Article
Full-text available
The caudal regression syndrome is defined as total or partial agenesis of the sacrum and lumbar spine, frequently associated with other developmental malformations (orthopedic, neurological, genito-urinary, gastrointestinal…). Prenatal diagnosis is possible through fetal ultrasound (US) and magnetic resonance imaging (MRI). A case of fetal caudal regression syndrome with omphalocele from a diabetic mother is presented, demonstrating the sonographic, MRI, CT and X-Ray features diagnostic. We will also discuss neonatal findings, risk factors and prognosis of this condition.
Article
Full-text available
Background Caudal regression syndrome is a rare, neural tube defect characterized by an abnormal development of the caudal aspect of the vertebral column and the spinal cord., It results in neurological deficits ranging from bladder and bowel involvement to severe sensory and motor deficits in the lower limbs. Maternal diabetes, genetic factors and some teratogens have been shown to be associated with its pathogenesis. Caudal regression syndrome is usually diagnosed initially by antenatal ultrasound with more definitive diagnosis made by antenatal or postnatal MRI. In this case series, we report four cases of caudal regression syndrome in different age groups including prenatal, infant and adult. Case Report We are presenting multimodal imaging findings of 4 cases of caudal regression syndrome in 4 different age groups including fetus, infant, early childhood and adult. The pathogenesis, associated risk factors, complications, treatment options and prognosis of caudal regression syndrome are discussed as well. Conclusions Caudal regression syndrome is a rare entity, characterized by sacrococcygeal dysgenesis with an abrupt termination of a blunt-ending spinal cord. Ultrasound and fetal MRI can be used to make a prenatal diagnosis, while MRI is the imaging modality of choice in adults. Early detection and prompt treatment is very important to decrease the risk of complications, and thus, to improve the prognosis.
Article
Full-text available
We report late presentation of caudal regression syndrome in a 9 year old presenting with a scoliotic deformity. She in addition had an asymptomatic cervical syrinx and vitiligo. We discuss the reasons for this unusual constellation of symptomatology present in our case.
Article
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.
Article
Caudal regression syndrome, also referred to as caudal dysplasia and sacral agenesis syndrome, is a rare congenital malformation characterized by varying degrees of developmental failure early in gestation. It involves the lower extremities, the lumbar and coccygeal vertebrae, and corresponding segments of the spinal cord. This is a rare disorder, and true pathogenesis is unclear. The etiology is thought to be related to maternal diabetes, genetic predisposition, and vascular hypoperfusion, but no true causative factor has been determined. Fetal diagnostic tools allow for early recognition of the syndrome, and careful examination of the newborn is essential to determine the extent of the disorder. Associated organ system dysfunction depends on the severity of the disease. Related defects are structural, and systematic problems including respiratory, cardiac, gastrointestinal, urinary, orthopedic, and neurologic can be present in varying degrees of severity and in different combinations. A multidisciplinary approach to management is crucial. Because the primary pathology is irreversible, treatment is only supportive.
Article
Autosomal dominant sacral agenesis is characterised by a partial agenesis of the sacrum typically involving sacral vertebrae S2-S5 only. Associated features include anorectal malformation, a presacral mass, and urogenital malformation. Together, these features have been defined as the Currarino syndrome. Recently, HLXB9 has been identified as the major causative gene in Currarino syndrome allowing identification of asymptomatic heterozygotes. In this review, we have performed an analysis of medical publications, and our own additional cases, to identify the range of malformations and complications that occur. We have also estimated risks of malformation in heterozygotes by using Weinburg's proband method on families personally known to us in order to provide accurate genetic counselling information.