ABSTRACTLimb body wall complex /Body stalk anomaly refers to a rare complicated polymalformative fetal malformationsyndrome of uncertain etiology.LBWC was first described byVan Allen et al; in (1987)1.The two of the three following anomalies must be present to establish the diagnosis:1. Exencephaly /Encephalocele with facial clefts.2. Thoraco –Abdominoschisis/ventral body wall defects. 3.Limb defects.No case of postnatal survival is reported so far. It presents twodistinct phenotypesdescribed by Russo et al. (1993)2and later Cusi et alin (1996)3, according to the foetoplacental relationships.1. Placento-cranial and 2.Placento-abdominal types.Limb body wall complex is invariably fatal and incompatible with life. Serum alpha-fetoprotein measurement and ultrasonography examination is the key to the prenatal diagnosis and followed by medical termination of pregnancy.Among the 168 livebirths at S.V.S. Medical College& hospital Mahaboonagar (INDIA) during the periodof 2010-2011 we came across an aborted female fetus. It was weighing 1800gms, 30 weeks of gestation diagnosed by antenatal ultrasonography as ventral body wall defect. It was associated with ompholocele, severe scoliosis and limb defects.Its confirmation of the diagnosis of Limb body wall complex with Placento-abdominal type was done by postmortem fetography.
Key words: limb body wall complex (LBWC); ultrasonography;abdominal defects; fetal malformations.
LBWC refers to a rare combination of disruptive and lethal abnormalities which starts early in the gestational process. It is characterized by the presence of an abdominal wall defect associated with variable spectrum of limb and visceral anomalies. It is also known as Body stalk syndrome.
Russo et al(2) have proposed two clearly distinguishable phenotypes:
The “Placento-cranial” and“Placento-abdominal”adhesion phenotype. The first phenotype shows craniofacial defects and amniotic bands while the second phenotype is without craniofacial defects and presents urogenital anomalies, anal atresia andabdominal placental attachment with a persistence of the extra-embryonic coelom.LBWC has no sex or familial predilectionor known recurrence risk. Karyotype study has been reported to be normal in all LBWC.The prognosisof LBWC is fatal and necessitates an early antenatal diagnosis followed by medical termination of pregnancy. The present case was diagnosed by prenatal ultrasonography and laterfollowed medical termination of pregnancy. The aborted female fetus 30 weeks old,diagnosed as LBWC of Placento-abdominaltype with several unusual features. In our index case, apart from thoracoabdominoscisis and limb defects presentsan interesting feature the two lobes of liver are separated by the stomach and duodenum.
A CASE REPORT
A 22 years old primi with 32 weeks of gestation presented to S.V.S. Hospital Mahaboonagar (A.P. INDIA.) came for routine antenatal checkup. Ultrasonography scanning was done.(Fig-2) She was G1P0A0, at the time of scanning. She gave a history of non-consanguineous marriage, did not take any drugs or chronicmedication. Ultrasound scans revealed live female fetus with 30 weeks of gestation. The scan also revealed a large abdominal wall defect through which abdominal contents herniated into the extra embryonic coelom, with marked scoliosis and limb defects. The patient was informed of poor prognosis and after counseling she was selected for termination of the pregnancy.Subsequently she aborted female fetus completely along with placenta and membranes. The diagnosis of LBWC was confirmed after delivery and detailed autopsy was done in Anatomy dissection hall.
n Live female fetus corresponding to 30wks gestation.
n BPD 74mm – corresponding to 30 weeks.
n Femur length – 58mm corresponding to 30weeks – 3 days.
n Head circumference – 268mm corresponding to 29weeks – 2 days
n Abdominal circumference – 216mm corresponding to 26 weeks
n Marked scoliosis of the spine
n Left upper limb was shorter than the rightupper limb.
n Malformation of fetal abdominal viscera and abdominal organs with evidence of exomphalous.
n Placenta – posterior, grade II – upper uterine segment
n Weight of the fetus –1185Gmsapproximately.
EXTERNALFEATURES-The present female fetus with LBWC showed placento-abdominalattachment. It revealed large ventral body wall defect through which abdominal contents herniated(Fig-1).The eviscerated organs formed a complex mass covered with membranes. The umbilical cord was short adherent to the eviscerated mass. On clear examination herniated mass included left lung, liver, stomach, spleen, small intestine and largeintestine. Theabdominal circumference was markedly diminished(fig-9).No anomalies were seen at the cranial region.Facial profile, fetal eyes and ears, palate and lips, and neck region was normal(Fig-3).Right hand with syndactyly between 3rd and 4th fingers(Fig-4).
Left shoulder joint hyperextended, forearm short and with only two digits (Fig-5).
The left great toe was small with constriction and right foot showed syndactyly of 4th and 5th toes (Fig-6).Back of the trunk showed marked scoliosis towards the right lateral side and highly prominent nuchal region(Fig-7, 8).
The External genitalia wereambiguous with small anal orifice(Fig-10).
Brain was soft.No cardiac anomalies found(Fig-12).Right lungnormal, within the thoracic cavity but left lung hypoplastic and present in the extra embryonic coelom (Fig-11). Diaphragm was absent.
The intra- abdominal anatomy was in apparent disarray.While the fetal stomach and urinary bladder were readily visualized, the exact location of remaining anatomy (i.e.kidney, liver, and bowel)could not be established.
Abdomen showed evidence of malrotation of stomach(fig-13&14).The two lobes of liver separated by stomach and duodenum (Fig-13&14). Spleen was normal, small intestine and large intestine filled with meconium present outside the abdominal cavity and covered by membranes. (Fig-14).
Kidneys were large and malrotated, ureters inserted laterally into the kidney and urinary bladder was normal(Fig-15).There was partial lack of pelvic organs and perineum,with presence of one ovary, one fallopian tube on the left side and uterus rotated to the left (Fig-16).Plain radiographs showed marked scoliosis and limb defects (fig-8).
Congenital malformations of the ventral abdominal wall occur in many forms, ranging from exomphalous to gastroschisis to more complexes, such as Pentalogy of Cantrell and LBWC.Limb body wall complex is an entity characterized by the presence of an abdominal wall defect associated with variable spectrum of visceral and limb anomalies. The diagnostic criteria for LBWC are still being discussed, but the most commonly quoted are those originally set forth by Van Allen et al in 1987,(1) i.e., the presence of two of the following three malformations.
1. Exencephaly / Encephalocele with facial clefts; (2) Thoracoand /or Abdominoschisis;
(3) Limb defects.
Coelosomia is found in all cases, its variable coexists with encephalic, visceral or limb anomalies. LBWC results from defect in early embryonic folding process. The chance of recurrence in the next pregnancy is very low. This congenital anomaly has no sex or family predilection. LBWC in association with other malformations makes the prognosis poor.
Two main phenotypes have been described in the literature.(Russo et al 1993)2
1. Fetuses with craniofacial defects (placento-cranial)-whose characteristics are
(a) Encephalocele or exencephaly always associated with facial clefts and
(b) Amniotic bands b/w the cranial defects and placenta.
2.Fetuses without craniofacial defects (placento-abdominal)– they often presents with urogenital anomalies, anal atresia,lumbosacral meningocele and placental anomalies like presence of short cord , persistence of extra embryonic coelom and intact amnion .
Pathogenesis of LBWC is unclear and uncertain. However three pathogenic theories have been proposed:
1.Early amnion rupture theory.(Exogenic theory) leading to the formation of amniotic bands that interrupt embryogenesis. (Torpin et al, 1965)4
2. Vascular disruption theory.(Endogenous theory) Van Allan, 19871
3. Embryonic dysgenesis or Germ disc defect with early embryonic maldevelopment. (Streeter theory1930) showing disturbances of theembryonic folding process.This Theory was subsequently modified by(Hartwig et al.1989)5.
The placento-cranialphenotype is related to early vascular disruption, while placento-abdominalphenotype is attributable to embryonic maldevelopment.
The present case has the characteristics of the placento-abdominal phenotype, seems to favor with embryonic maldevelopment i.e. disturbances of the embryonic folding process, presenting with ventral body wall defect and limb anomalies.(Hartwig et.al.1989)5
The predominant feature of sonographic findings is evisceration of theabdominal contents. The eviscerated organs formed a complex mass covered with membranes floating in the persistent extra embryonic coelom. The umbilical cord was short adherent to the eviscerated mass.The herniated organs included are left lung, liver, stomach, spleen, small intestine and large intestine. The urinary anomalies are malrotated kidneys and genital abnormalities are one ovary,one fallopian tube on the left side and small rotated uterus was also present. The abdominal circumference was markedly diminished.
The internal malformations of the urinary and genital systems are usually associated with LBWC. They suggest abnormal mesodermal development. The placodes related to abnormal embryonic folding add cells to the intermediate mesoderm that forms the urogenital system in the trilaminar disc.(Hartwig et al 1989)5
H.Saadi, K.Sfakianoudis, D. Thomas(2007)6in their study reported anterior wall defect with herniation of the abdominal contents, skeletal defects in the upper limb and kyphoscoliosis.
Martinez –Frias7determined the presence of body wall defects with evisceration of thoracic and /or abdominal organs and other congenital abnormalities with or without limb deficiencies is considered to be the LBWC. The present study is in agreement with above authors because it also includes anterior body wall defects with evisceration of thoracic and abdominal contents, limb defects and severe scoliosis with prominent nuchal region.Epidemiology ofthe LBWC syndrome is not always recognized. Its incidence is difficult to estimate. Kurosawa et al8 estimated the incidence in 0.21 to 0.31 cases per 10,000 births. He found no connection to fetal sex, parental age or any associatedgenetic anomalies.Luer et al9 reported higher incidence3.3:10,000 births and presented series of cases with teratogenic causes, means environmental factors of natural or chemical origin may have come into contact with during pregnancy.(tobacco, alcohol and certain drugs.)There have been research studies done which suggest a connection with anti-convulsant drugs with the LBWC. Further evidence of cocaine’s teratogenicity is also associated with theLBWC.Viscarello et al 199210 .In this present case, it was found that karyotype was normal, 46xx as reported by Van Allen etal1andNegishi et al.11Theetiology was unknown. No teratogen has been implicated. Nogenetic abnormality and familial recurrence has been reported. The pathogenesis of malformations related to LBWCof the present case was unknown.
CONCLUSION LBWC is a syndrome with multiple malformations and with very poor prognosis compared to isolated exomphalos or gastroschisis. Pregnancy should be terminated onestablishing correct diagnosis which requires careful ultrasonographic examination of the fetus whenever ventral body wall defect with other malformations is suspected.Exomphalous requires chromosomal analysis (seen in trisomies 13, 18&, 21) andisolated gastroschisis is the most benign of all.Thus it is important to distinguish between these entities,as it will influence the choice of the treatment.
It is my hope that this case will stimulate lively discussion and give all of us an opportunity to learn something new about these rare disorders.
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