LIMB BODY WALL COMPLEX OR BODY STALK COMPLEX


  • This was a 22 year old lady, primi gravida who was referred for 2nd opinion for suspected fetal ascites.
  • The fetus was seen in a fixed position with spine fixed to the anterior abdominal wall. Kypho scoliosis could be made out.
  • ANT ABD WALL DEFECT AMNI BAND_1 ANT ABD WALL DEFECT AMNI BAND_2

The head was in the upper pole and appeared dolichocephalic.

 

ANT ABD WALL DEFECT AMNI BAND_5 ANT ABD WALL DEFECT AMNI BAND_4

A large anterior abdominal wall defect was seen with the liver , bowels and the viscera floating outside .

Amniotic band is seen .

ANT ABD WALL DEFECT AMNI BAND_17

The following are a few 3 D reconstruction.

TANT ABD WALL DEFECT AMNI BAND_16 ANT ABD WALL DEFECT AMNI BAND_15 ANT ABD WALL DEFECT AMNI BAND_14 ANT ABD WALL DEFECT AMNI BAND_13

The following picture shows the reconstruction of the amniotic band.

tANT ABD WALL DEFECT AMNI BAND_12

 

The chest wall seems to be intact in the pictures below.

ANT ABD WALL DEFECT AMNI BAND_11 ANT ABD WALL DEFECT AMNI BAND_10

The fetal kidneys with the renal arteries are shown in the picture below.

ANT ABD WALL DEFECT AMNI BAND_9

 

ANT ABD WALL DEFECT AMNI BAND_8

 

The abdominal wall defect was extensive and the lower abdominal wall is also not made out.

? Cloacal exstrophy is seen below.

  

ANT ABD WALL DEFECT AMNI BAND_25

 

Floating viscera are seen .

ANT ABD WALL DEFECT AMNI BAND_19 ANT ABD WALL DEFECT AMNI BAND_20

 

ANT ABD WALL DEFECT AMNI BAND_25

 

The diagnosis I offered on that day was anterior abdominal wall defect – body stalk complex with amniotic band with kyphoscoliosis of the spine.

Abdominal wall defects  http://radiopaedia.org/articles/fetal-anterior-abdominal-wall-defects

Fetal anterior abdominal wall defects can occur with a number of pathologies and include

Individual entities
Syndromes / complexes

Please visit some of the links given below

http://sonoworld.com/fetus/page.aspx?id=2420

http://www.msjonline.org/Volume1Issue2/IJRMS20130519.pdf

https://www.sonoworld.com/Fetus/page.aspx?id=2907

http://onlinelibrary.wiley.com/doi/10.1002/uog.84/pdf

 

The limb body wall complex (LBWC) is a rare variable group of congenital limb and body wall defects (involving mainly the chest and abdomen). They can include

Abdominal wall defect – abdominoschisis : usually large and left-sided 4 : almost always present

thoracic wall defect / thoracoschisis
ectopia cordis
anomalies of the lower limbs
clubfoot
brachydactyly
polydactyly
syndactyly
oligodactyly
absent limbs
scoliosis : often profound
exencephaly

 

Limb body wall complex is a rare syndrome with two distinct phenotypes described by Russo et al. in 1993: a form with a placento-cephalic attachment and another form with a placento-abdominal attachment. Diagnosis is based on various echographic signs. No case of postnatal survival is described.

 Pathogenesis of LBWC is unclear and uncertain. Three  pathogenic theories have been proposed:
1. Early amnion rupture theory (Exogenic theory) leading to the formation of amniotic bands that interrupt embryogenesis and the fetus lies outside the amniotic
cavity. It disturbs the normal development (Torpin et al, 1965).
2. Vascular disruption theory (Endogenous theory) is described as events that negatively influence normal embryonic blood supply, thereby interrupting normal
morphogenesis (Van Allan, 1987).
3. Embryonic dysgenesis or Germ disc defect with early embryonic maldevelopment. The fetal disruptions resulted from imperfect histogenesis, showing
disturbances of the embryonic folding process (Streeter theory 1930).

Body-stalk deformity occurs from complete failure of body folding along all three axes (cephalic, caudal, and lateral) . Normally after the embryo folds, the intraembryonic coelom (future peritoneal cavity) is separated from the extraembryonic coelom, and the umbilical cord subsequently forms . If this folding does not occur, then the extraembryonic cavity is not obliterated and the body-stalk is missing. This leads to congenital absence of the umbilical cord with a wide-based, peripheral insertion of the large fetal amnioperitoneal sac onto the placental chorionic plate . Aberrant cephalic folding can further produce ectopia cordis  congenital heart disease, diaphragmatic hernia with resultant pulmonary hypoplasia, and a defect in the thoracic wall and epigastrium. The lack of lateral folding is the basis for herniation of the midabdominal contents into the amnioperitoneal sac, while abnormal caudal folding results in the malformations noted with cloacal exstrophy. Severe scoliosis develops as a consequence of the irregular attachment of the fetus to the placenta 

Other possible mechanisms for body-stalk malformation include: decreased blood flow early in gestation (four to six weeks) leading to disruption and incomplete development of embryonic tissue  and early amnion rupture (before obliteration of the coelomic cavity) allowing the fetus to pass into the coelomic cavity . In the latter, direct mechanical pressure and amniotic band formation are thought to create the associated defects.

 Body-stalk anomalies are the rarest of all abdominal wall defects. The average incidence is 1 in 14,273 births 

14 thoughts on “LIMB BODY WALL COMPLEX OR BODY STALK COMPLEX

  1. kudos to you Kriz. most of what you show is greek & latin to me. the explanation part nice. I think you should be getting ready to publish all this in a Book titled Ultrasonic findings of foetal abnormalities in India- from a clinic in a semi urban locality.

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  2. Amazing pictures Krishnan, and quite difficult to interpret from our seats! Good thing you explain things so well….
    I remember my first body stalk complex in 1982… the machine had a monitor with only 64 lines. Wish I still had the pictures to show you the difference!

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  3. Hi

    Great case again! Haven’t seen one ( or similar in a long time.) Great images and reviews.
    Thanks again, we need to see more than maybe we do in our own scope of things!

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  4. I found your entry while researching LBWC. I am the parent of a child who died shortly after birth, due to LBWC. We have 50+ parents in a group, who continued their pregnancies after this diagnosis- we generally have at least one parent joining us every two months. We are desperate to find if there is any research currently being done on this disorder. We would like to participate.

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      • Hello Sarah &Jill,
        I’m very sorry for not having responded long back. I’m not aware of the research going into the LBWC . If I know of anything I’ll let you know.

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  5. Thank you so much!

    We did find researchers in the Netherlands (http://www.ncbi.nlm.nih.gov/pubmed/21472892) who are studying the PORCN gene, and who were willing to accept tissue samples from our parents, unfortunately the type of tissue they require is unable to be shipped internationally.

    I am leaving my email here, in case anyone else finds this message thread.

    info@limbbodywallcomplex.net

    (we now have over 60 families… and members requesting admission regularly)

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