CAUDAL

REGRESSION
SYNDROME
Presentor
Dr.D.Sandeep kumar

Moderator
Dr.Manoranjan reddy
Dept of Radiology SVIMS
 Case history:
13 yr old boy was brought to the neuro surgery department.
 Chief complaints :

Difficulty in walking without support

Deformity of both legs since early childhood
Rectal and urinary incontinence.
 Family history :

Offspring of a diabetic mother.

non-consanguinous parents.
 Intelligence : normal
 no dysmorphic craniofacial features

 Hearing and vision : normal.

 Orthopaedic abnormalities:
 Spinal-pelvic instability,
 knee-flexion contracture associated with popliteal
webbing are the prominent orthopaedic abnormalities
No associated upper limb abnormalities.

MOTOR development:
 normal over the both upper limbs
 weakness of the both lower limbs
 Fixed flexion
deformity of the
knee
overwhelmed by
extensive
popliteal webbing
radiographs
AP view of pelvis:
Complete sacral
agenesis with the iliac
bones fused together
underneath the last
lumbar vertebra
(Type IV )
 Lateral view pelvis:
 Absent sacrum with
B/L HYPOPLASTIC
FEMURS
B/L Hypoplastic femurs
IMAGING
T2 sag
T2 sag
T2 sag
T1 sag
T2 AXIAL

T2 AXIAL
 diagnosis
 With the back ground clinical history
and correlation with radiological
findings this child was diagnosed as a
case of
“Caudal regression
syndrome.”
 ION
S S
CU
DI S
Bernard Duhamel (1961) first used the term “syndrome of
caudal regression” to describe the spectrum of congenital
malformations consisting of anomalies:
 of the rectum,
 the urinary & genital systems,
 the lumbosacral spine &
 the lower limbs .
The most severe end of the spectrum is fusion of the lower
limbs and major organ malformations.
This is known as “Sirenomelia” or mermaid syndrome.
 Incidence
 CRS occurs in approximately 1 per 7500 births
.
 It is an uncommon malformation seen in 0.1-
0.25:10,000 of normal pregnancies.
 Males and females are affected equally.
 Nearly all cases are sporadic.
 Although the specific cause of CRS has not
been fully elucidated,hyperglycemia is the
most commonly recognized teratogen
involved in this syndrome.
 CRS occurs in up to 1% of pregnancies of women with
diabetes.
 up to 22% of cases of CRS are associated with either
type I or type II diabetes mellitus in the mother.
 Women with diabetes who are dependent on insulin are
200–400 times more likely to have a child with CRS than
women without diabetes, making CRS the most
characteristic fetal abnormality of diabetic embryopathy

 (Radiology January 2004)

CLASSIFICATION Of sacral agenesis
 Normal:
The iliac bones articulate with
the sacrum on either side

Type I:
Partial or total unilateral sacral
agenesis

o Type II:
Partial but bilateral and
symmetrical sacral agenesis
 Type III :
Total sacral agenesis and
variable lumbar agenesis
(The iliac bones articulated
laterally to the last lumbar
vertebra)

 Type IV :
Complete sacral agenesis with
the iliac bones fused together
underneath the last lumbar
vertebra
EMBRYOLOGY
 Embryologically the sacrum, conus, filum terminale and
sacral nerve roots are formed by a process of canalization
and retrogressive differentiation which is usually complete
by the 4th week of fetal life.
 The various manifestations of caudal regression result from
disturbance of this normal process during the third week of
fetal development.
 This may reflect a toxic, infective or ischaemic insult and
there is a significant association with maternal diabetes.
The neural folds come together
in the cervical region and
fuse; closure then proceeds in a
rostral and caudal direction and
Form the neural tube.
Primary vs. Secondary
Neurulation

Primary:
1. Starts from ectoderm
2. Folds to form a tube
This process requires
“FOLATE” and must
occur for proper nervous
system development

Secondary:
1. Starts from
mesenchyme
2. Condenses, then
hollows
3. Undergoes an
epithelial
 Secondary
Neurulation

A mass of mesenchyme(caudal eminence) condenses, hollows out

and then joins with the neural tube formed by primary neurulation
Secondary neurulation forms the sacral and coccygeal spinal
segments.
In humans, most of the coccygeal spinal segments regress.
Embryologic insult occurring at the mid posterior axis
mesoderm causes an insufficient mesoderm within the
caudal eminence leading to “Caudal Dysgenesis (Caudal
Regression Syndrome)” manifesting as :-
Pelvic & lower extremity hypoplasia with failure of sacral
spinal cord development.
Extreme cases result in “sirenomelia”.
 Clinical features :
 characterized by a series of congenital abnormalities,
including -
 complete or partial agenesis of the sacrum and
lumbar vertebrae associated with pelvic deformity.
 The importance of the sacral defect lies in its
coexistence with defective bladder innervation
which causes incontinence.
 imperforate anus

 urinary tract abnormalities

 Femoral hypoplasia

 flexion contractures of the lower extremities

 club feet
 Loss of motor function below the level of the
remaining normal spine
 sensation tends to be present at much more
caudal levels
 often associated with anomalies of the
gastrointestinal tract and heart as well as with
NTD
 ANTENATAL Diagnosis
 Sonography first trimester :
the short crown – rump length .
Longitudinal sonogram shows a blunted distal cord
typical of caudal regression syndrome.
 Sonography second or third trimester :
absence of sacrum
shortened femurs.
 legs flexed and abducted at the hips(FROG like position)
 clubfeet.
 detects associated urinary anomalies,
such as renal agenesis, cystic dysplasias, caliectasis and
gastro-intestinal anomalies, such as duodenal atresia.
 JOHNNY ECK (1911-1991)
JOHNNY Half-Boy "
At his birth midwife is said to have
cried,
"Oh, my lord, he's a broken
doll!“
Height 1' 6" (0.46 m)
Actor , artist
Photographer

Race car driver,

Swimmer, runner,

 Tight rope walker, animal

trainer,
Gymnast, orchestra conductor,
Was displayed in the late 1930s in several
Ripley's Believe It Or Not Odditoriums, where
he was billed as
"The Most Remarkable Man Alive!"
Personal Quotes
…ECK
 “I met hundreds and thousands of people, and none
finer than the miniatures & the Siamese twins &the
caterpillar man &the bearded woman &the human
seal with the little flippers for hands.
I never asked them any embarrassing
questions and they never asked me, and God, it was
a great adventure.”
 Take home message
 When asked to comment upon his
achievements through out his life time; at
the ripe age of 79 yrs
ECK’ Commented …..
“never repent on how you are…
show the world what you
are…!”
Thank you..