Caudal RegressnPresentation

8/14/2019 Caudal RegressnPresentation

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CAUDAL

REGRESSIONSYNDROME

PresentorDr.D.Sandeep kumar

ModeratorDr.Manoranjan reddy

Dept of Radiology SVIMS


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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.


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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


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Fixed flexion

deformity of thekneeoverwhelmed byextensivepopliteal webbing


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radiographs


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AP view of pelvis:Complete sacral

agenesis with the iliacbones fused togetherunderneath the lastlumbar vertebra

(Type IV )


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Lateral view pelvis:

Absent sacrum withB/L HYPOPLASTICFEMURS


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B/L Hypoplastic femurs


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IMAGING


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T2 sag


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T2 sag


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T2 sag


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T1 sag


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T2 AXIAL

T2 AXIAL


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diagnosis

With the back ground clinical historyand correlation with radiologicalfindings this child was diagnosed as a

case ofCaudal regression

syndrome.


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DISCUSS

ION


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Bernard Duhamel (1961) first used the term syndrome ofcaudal regression to describe the spectrum of congenitalmalformations 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.


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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 themost commonly recognized teratogeninvolved in this syndrome.


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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 are200400 times more likely to have a child with CRS than

women without diabetes, making CRS the mostcharacteristic fetal abnormality of diabetic embryopathy

(Radiology January 2004)

CLASSIFICATION Of l i


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CLASSIFICATION Of sacral agenesis


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Normal:

The iliac bones articulate withthe sacrum on either side

Type I:

Partial or total unilateral sacralagenesis

o Type II:

Partial but bilateral andsymmetrical sacral agenesis


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Type III :

Total sacral agenesis andvariable lumbar agenesis

(The iliac bones articulatedlaterally to the last lumbar

vertebra)

Type IV :

Complete sacral agenesis withthe iliac bones fused togetherunderneath the last lumbar

vertebra


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EMBRYOLOGY


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Embryologically the sacrum, conus, filum terminale andsacral nerve roots are formed by a process of canalizationand retrogressive differentiation which is usually completeby the 4th week of fetal life.

The various manifestations of caudal regression result fromdisturbance of this normal process during the third week offetal development.

This may reflect a toxic, infective or ischaemic insult andthere is a significant association with maternal diabetes.


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The neural folds come togetherin the cervical region and

fuse; closure then proceeds in arostral and caudal direction andForm the neural tube.


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Primary vs. SecondaryNeurulation

Primary:1. Starts from ectoderm2. Folds to form a tubeThis process requires

FOLATEand mustoccur for proper nervoussystem development

Secondary:

1. Starts frommesenchyme2. Condenses, thenhollows

3. Undergoes ane ithelial

S d


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SecondaryNeurulation

A mass ofmesenchyme(caudal eminence) condenses, hollows outand then joins with the neural tube formed by primary neurulation

Secondary neurulation forms the sacral and coccygeal spinalsegments.

In humans, most of the coccygeal spinal segments regress.


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Embryologic insult occurring at the mid posterior axismesoderm causes an insufficient mesoderm within thecaudal eminence leading to Caudal Dysgenesis (Caudal

Regression Syndrome) manifesting as :-Pelvic & lower extremity hypoplasia with failure of sacralspinal cord development.

Extreme cases result in sirenomelia.


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Clinical features :

characterized by a series of congenital abnormalities,including -

complete or partial agenesis of the sacrum andlumbar vertebrae associated with pelvic deformity.

The importance of the sacral defect lies in itscoexistence with defective bladder innervationwhich causes incontinence.

imperforate anus

urinary tract abnormalities

Femoral hypoplasia

flexion contractures of the lower extremities

club feet


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Loss of motor function below the level of theremaining 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 withNTD


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ANTENATALDiagnosis

Sonography first trimester :the short crown rump length .

Longitudinal sonogram shows a blunted distal cordtypical of caudal regression syndrome.

Sonography secondor third trimester :absence of sacrumshortened 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.


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JOHNNY ECK (1911 1991)


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JOHNNY ECK (1911-1991) JOHNNY Half-Boy"

At his birth midwife is said to have

cried,

"Oh, my lord, he's a brokendoll!Height 1' 6" (0.46 m)

Actor , artistPhotographer

Race car driver,

Swimmer, runner, Tight rope walker, animal

trainer,

Gymnast, orchestra conductor,

as sp aye n e a e s n severa


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as sp aye n e a e s n severaRipley's Believe It Or Not Odditoriums, wherehe was billed as

"The Most Remarkable Man Alive!"

Personal Quotes


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Personal Quotes ECK

I met hundreds and thousands of people, and nonefiner than the miniatures & the Siamese twins &thecaterpillar man &the bearded woman &the humanseal with the little flippers for hands.

I never asked them any embarrassingquestions and they never asked me, and God, it wasa great adventure.


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Take home message

When asked to comment upon hisachievements through out his life time; atthe ripe age of 79 yrs

ECK Commented ..

never repent on how you are

show the world what youare!


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Thank you..

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Caudal RegressnPresentation