Limb body wall complex (LBWC)

Ashwin Borade; Ashwin S. Prabhu; Geeta S. Prabhu; Sasanga R. Prabhu

doi:https://

Ashwin Borade¹, Ashwin S. Prabhu¹, Geeta S. Prabhu², Sasanga R. Prabhu².

¹Department of Pediatrics, Amrita Institute of Medical Sciences, Kochi, India,
²Department of Obstetrics and Gynecology, Sangeeth Nursing Home, Kochi, India.

ADDRESS FOR CORRESPONDENCE
Dr. Ashwin Borade, C/O Dr. Geeta S. Prabhu, Department of Obstetrics & Gynecology, "Sangeeth" Nursing Home, South Cherlai, Kochi, Kerala 682002, India.
Email: ashwinborade@yahoo.com

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Abstract

Limb Body wall complex (LBWC) is a rare abdominal wall defect due to failure of the development of the body stalk. The incidence at birth is about 0.32 per 1, 00,000 births because of subsequent intrauterine deaths (1). We report a primigravida who presented at 26 weeks with ultrasonographic feature of LBWC. After termination of pregnancy; evaluation confirmed the anomaly of the lower embryonic parts consistent with the diagnosis of LBWC.

Keywords

Limb body wall complex, Placento-abdominal adhesion, Body wall defects.

Introduction

LBWC is sporadic, lethal abnormality characterized by severe body-wall defects with evisceration of the organs caused by the failure to form a body stalk. LBWC also known as Body Stalk Anomaly is characterized by severe scoliosis, severe pulmonary hypoplasia and giant omphalocele. The prognosis of the disease is poor and most obstetricians consider it fatal (2,3).

We present this rare congenital malformation complex highlighting the importance of early sonographic imaging findings in LBWC along with differentiation from other anterior abdominal wall defects.

Case Report

A 20 years old primigravida presented at 26wks gestation with anomaly scan report of fetus having abdominal wall defect with positional deformities and severe scoliosis. It was a first pregnancy of non-consanguineous marriage. The antenatal period was uneventful. A provisional diagnosis of LBWC was made. After explaining poor prognosis and family counseling, patient was posted for termination of pregnancy as a high-risk case. The fetus weighed 500 gm including the placenta, which was adherent to the skin margin of the anterior body wall defect. The proposita had complex fetoplacental malformation pattern with multiple congenital anomalies. Also evident were associated exencephaly, cleft palate and bilateral anophthalmos. He survived for only few minutes after birth. The most obvious features included a huge abdominal wall defect that caused evisceration of liver, stomach and the intestines. Abdominal viscera were attached directly to the placenta and were covered by ruptured sac of amnion. A rather short and broad body stalk connected the fetus to the placenta [Figure 1]. The umbilical vessels were one artery and a vein which was connecting the skin margin of the anterior body wall defect. Other abnormal features included low set misshapen and elongated ears, compressed nose, high arched palate and receded chin. Thorax was small and bell-shaped with scoliosis of the spine. The lower limbs had developed unequally and were malpositioned. Left leg was more hypoplastic with flexion contracture at the knee joint. Our patient showed the placento-abdominal adhesion phenotype. Because of the fatal nature of the disease and unwillingness of parents further investigations were not performed in this case.

Limb body wall complex

Discussion

Portal in 1685 described cases of structural defects involving limb and midline body wall anomalies (4). Limb body wall complex was described for the first time by Van Allen et al in 1987 (5). LBWC was also referred to as "congenital absence of the umbilical cord", "cyllosomus and pleurosomus" and "body stalk anomaly" (5,6,7). But in 1993, Russo et al published a critical review of the literature on limb-body wall complex, hypothesizing that the 2 limb-body wall complex phenotypes (with and without craniofacial defects) may represent different entities, with different pathogeneses. The phenotype including craniofacial defects would be caused by early vascular disruption and amnion rupture; a view also based on the frequent observation of typical constrictive amniotic bands. In contrast, limb-body wall complex without craniofacial defects, a phenotype in reality representing the body stalk anomaly, would be related to intrinsic embryonal maldevelopment, the defective folding process of the embryonic disk (8). The two phenotypes have been described as placento-cranial and placento-abdominal adhesions (3,9). There is no sex or familial predilection or known recurrence risk (3). The exact etiology of LBWC is not clear. Smith et al have suggested that LBWC results from amnion rupture caused by vascular or mechanical compression occurring between third and fifth weeks (10). The etiology includes embryonic dysplasia, exposure to teratogenic drugs and use of oral pills (9).

LBWC is a polymalformative fetal malformation syndrome with the essential features of exencephaly / encephalocele with facial clefts, thoraco- and / or abdominoschisis and limb defects. For diagnosis two or three of above features are required. ln our proposita, the two diagnostic features were abdominoschisis and limb defects, further supported by severe scoliosis of the spine. Other defects include cardiac defects, bowel atresia, renal agenesis / dysplasia, urogenital anomalies, absent or short umbilical cord etc (9,10). Limb defects in LBWC are seen in 96% cases and include club foot (32%), oligodactyly (12%), arthrogryposis/web (12%), absent limb (9%), single forearm bone (8%), single lower leg bone (6%), pseudosyndactyly (5%), split hand/foot (5%), radial/ulnar hypoplasia (4%), rotational defect (4%), and preaxial poly-dactyly (3%) (3,12). Other malformations include absent diaphragm (74%), abnormal pulmonary lobulations (50%), trilobulated liver (4%), polysplenia (4%), absent gall bladder (29%), amniotic bands (40%) and single umbilical artery. Cardiac malformations reported are primitive ventricle (53%), common atrium (46%), truncus arteriosus (23%), atrial septal defect (15%), membranous VSD (8%), hypoplastic right ventricle (8%) and ectopia cordis (8%). Gastrointestinal anomalies seen are nonrotated intestine (96%), intestinal atresia (22%), anal atresia (17%), shorted intestines (4%) and Ladd's bands (4%). Renal abnormalities reported are unilateral absent kidney (30%), bilateral absent kidney (4%), hydronephrosis (17%), renal dysplasia (9%), and hypoplastic kidneys (4%). Urogenital abnormalities seen are abnormal external genitalia (32%), absent gonad (30%) and extrophy of bladder (4%) (2,9).

Prenatal diagnosis is possible by detection of very high maternal serum alpha-fetoprotein and by transvaginal ultrasound examination at the end of the first gestational trimester (1,3,6). The ultrasonographic features are a major abdominal wall defect, severe kyphoscoliosis, a short or absent or rudimentary umbilical cord and limb abnormalities (3,13). The colour flow imaging demonstrates single umbilical artery with abnormal fetoplacental attachment (3). LBWC is an almost uniformly lethal and must therefore be distinguished from other nonlethal fetal abdominal wall defects, such as gastroschisis or omphalocele (8). Gastroschisis is usually an isolated right paraumbilical defect, easy to diagnose. The differential diagnosis of omphalocele may be more challenging because this midline defect is frequently associated with other anomalies.

Early diagnosis can be followed by medical termination of the pregnancy. We highlight this case for it's rarity and also suggest attention should be given for early ultrasonographic diagnosis of this anomaly.

Contributors: ASP reviewed the literature and drafted the initial manuscript. AB was involved in designing the article, revision of manuscript. GSP was involved in designing the article, revision of manuscript and will act as a guarantor for the paper. SRP were involved in the management of the patient and in critical revision of the manuscript.

Competing Interest: None

Contributor Statement

ASP reviewed the literature and drafted the initial manuscript. AB was involved in designing the article, revision of manuscript. GSP was involved in designing the article, revision of manuscript and will act as a guarantor for the paper. SRP were involved in the management of the patient and in critical revision of the manuscript.

Acknowledgement

None

Compliance with Ethical Standards

Funding

None

Conflict of Interest None

References

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