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Case Reports

Indian Pediatrics 2003; 40:891-894 

Limb Body Wall Complex


Sanjeev Managoli
Pushpa Chaturvedi
Krishna Y. Vilhekar
Nitin Gagane*

From the Departments of Pediatrics and Pathology *, Mahatma Gandhi Institute of Medical Sciences, Sevagram, Wardha, Maharashtra-442 102, India.

Correspondence to: Dr. Sanjeev Managoli, Lecturer, Department of Pediatrics, Kasturba Hospital, Mahatma Gandhi Institute of Medical Sciences, Sevagram, Wardha, Maharashtra-442 102, India. E-mail: [email protected]
 

Manuscript received: November 1, 2002;Initial review completed: December 30, 2002;Revision accepted: February 26, 2003.

 

Abstract:

A case of Limb body wall complex is reported in a preterm, Low birth weight and stillborn neonate. The proposita had abdominal wall defect with evisceration of the organs into an amnio-peritonial sac, a short body stalk, torsion of spine with scoliosis and limb defects. Unusual associations present in this case were absent thymus, interstitial calcification in kidney and a history of exposure to birth control pills during first two months post-conception.

Key words: Limb body wall complex

 

Limb body wall complex (LBWC) is a constellation of severe body-wall defects with evisceration of the organs caused by the failure to form a body stalk. It is characterized by absent or short umbilical cord, failure of fusion of amnion and chorion, with associated severe spinal scoliosis, and limb defects(1-2). We report here a rare case of this multiple congenital malformation complex with some unusual associations such as an association with use of oral contraceptive pills (OCP) by mother during the first 2 months post conception and presence of an accessory spleen and exstrophy of bladder. Absent thymus and interstitial calcification in kidney, seen in our proposita, to the best of our knowledge have not been described earlier.

Case Report

A 22-year-old, unbooked primigravida with severe oligohydroamnios delivered spontaneously, a 32-week stillborn weighing 1680 grams (including the placenta) at Kasturba Hospital, M.G.I.M.S., Sevagram. The proposita had complex fetoplacental malformation pattern with multiple congenital anomalies. Mother conceived while taking OCP that she continued to take in the first 2 months post conception. Mother was not able to recall the exact name of this OCP. There was no history of consanguinity or any family history of malformations.

On clinical examination (Fig. 1), the most obvious features included a huge left-sided 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. The umbilical vessels, one artery and a vein, were embedded in an amniotic sheet, which was connecting the skin margin of the anterior body wall defect to a circumvellate placenta. The anus was not visible and no discernable external genitalia were noted. Other abnormal features included asymmetrical face with medial epicanthal folds, low set misshapen and elongated ears, compressed nose, high arched palate and receded chin (Potter facies). Thorax was small and bell shaped with scoliosis of the spine. The lower limbs had developed unequally and were malpositioned. Right leg was more hypoplastic with clubfoot and flexion contracture at the knee joint. The left leg showed a pescavus deformity.

Fig. 1. Newborn with abdominal wall defect, evisceration of the abdominal organs and lower limb defects.

Skeletal survey revealed pneumothorax and collapsed lungs on both the sides. Mandible, maxilla and the nasal bone were hypoplastic. Upper limbs were normal. There was scoliosis and torsion of the spine. The long bones of the right lower limb were underdeveloped with hypoplastic clubfoot. There was splaying of pelvic bones and hypoplasia of the sacrum. The cranial ultrasound examination (USG) was normal.

Autopsy confirmed the above skeletal and USG abnormalities. A huge abdominal wall defect, extending from the distal part of the sternum to the suprapubic region, involving more of the left side was observed. This caused evisceration of liver, stomach and the intestines. Margins of liver were ill-defined and scattered over the ruptured membranes of amnion. An accessory spleen was present in addition to a normal spleen. The colon ended blindly in a large meconium filled pouch; there was anal atresia. The urogenital anomalies included hypoplastic kidneys and absent gonads. The ureters drained into a rudimentary bladder, which opened to the exterior. Thymus was absent and both the lungs were hypoplastic. Diaphragm was present. Heart showed a large atrial septal defect and primitive single ventricle. Histopathology of the kidneys, and the lungs showed marked immaturity. Right kidney showed interstitial calcification. Liver showed extramedullary haemopoiesis. Gonads could not be localized but a mass of suspected gonad, which was embedded in the membranes, was histologically detected as testicular tissue. Karyotyping was not possible due to culture failure.

Discussion

Limb body wall complex (LBWC) represents a set of disruptive abnormalities having in common the failure of closure of the ventral wall, and a shortened or absent umbilical cord(1,2) There is failure of fusion of the amnion and chorion. The diagnosis of this entity is based on two of the three following characteristics (a) exencephaly/ encephalocele and facial clefts; (b) thoraco and/or abdominoschisis; and (c) limb defects(2-5). The association of any abdominal wall defects and scoliosis implies the diagnosis of LBWC(3). ln our proposita, the two diagnostic features were abdominoschisis and limb defects, further supported by severe torsion and scoliosis of the spine.

LBWC is also referred to as "congenital absence of the umbilical cord", "cyllosomus and pleurosomus" and "body stalk anomaly"(1-3) The incidence of LBWC is 1 : 14,273 birth(6). There is no sex predilection and the risk of recurrence is negligible(1,3). The etiology of this anomaly is not clear. Chromosome defects have not been identified. In a largest collection of 25 fetuses with LBWC reported by Van Allen, et al.(2), pregnancy abnormalities by history included removal of intrauterine device 6 weeks post last menstrual period in one mother; tubal ligation with general anesthesia 4 weeks post conception in one; reported illicit drug abuse in two; and use of birth control pills during the first two months post conception in one. Till date no other case of LBWC in association with birth control pills during the first trimester of pregnancy is reported. There is a strong association with cocaine abuse during the first trimester of pregnancy(7). ln our case there was history of exposure to birth control pills (exact preparation not known) during the first 2 months post conception. However more observations are required to comment on the role of birth control pills in the etiopathogenesis of LBWC.

The pathogenesis of limb body wall complex is uncertain though two major hypotheses are currently formulated. One theory is an early rupture of the amnion with mechanical compression between the 3-5th embryonic weeks(1,3). The other theory is the vascular disruption theory(1,2). Malformation of the body stalk results from a defect in the germ disc leading to an abnormal body folding, an abnormal amniotic cavity formation and a failure to obliterate the extraembryonic coelom. This accounts for absent or short umbilical cord and broad insertion of the amnio-peritoneal membrane onto the placental chorionic plate(3). Aplasia or hypoplasia of the paraspinous or thoracolumbar musculature is responsible for the severe scoliosis(2,6). The limb defects are due to the mechanical rupture through the amnion in the presence of a persistent extraembryonic coelom(3,6).

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%)(5).

Internal malformations in LBWC are seen in 95% cases and include cardiac anomalies (43%), absent diaphragm (74%), abnormal pulmonary lobulations (50%), gastrointestinal (100%), trilobulated liver (4%), polysplenia (4%), absent gall bladder (29%), renal (65%) and urogenital abnormalities (56%). Other malformations include amniotic bands (40%) and single umbilical artery(1-3,8). 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). Absent thymus and interstitial calcification in kidney, seen in our proposita, have not been described earlier.

In view of the dismal prognosis, early antenatal diagnosis is important allowing for earlier, and less traumatic termination of pregnancy(3). Prenatal diagnosis is possible by detection of very high maternal serum alpha-fetoproteins and by transvaginal ultrasound examination at the end of the first gestational trimester(1,6). Postnatally, the examination of placenta, umbilical cord and the membranes is crucial in confirming the diagnosis of LBWC(3,4).

Contributors: SM diagnosed the condition and drafted the manuscript; he will act as guarantor. NG performed autopsy and histology. PC and KYV co-drafted and critically evaluated the manuscript.

Funding: None.

Competing interest: None stated.

 

 References


 

1. Angtuaco TL. Fetal Anterior Abdominal Wall Defects. In: Callen PW (ed). Ultrasonography in Obstetrics and Gynecology. 4th edn. Philadelphia: Saunders 2000. pp. 507-512.

2. Van Allen MI, Curry C, Gallagher L. Limb body wall complex: 1. Pathogenesis. Am J Med Genet 1987; 28: 529-548.

3. Lockwood CJ, Sciocia AL, Hobbins JC. Congenital absence of the umbilical cord resulting from maldevelopment of embryonic folding. Am J Obstet Gynecol 1986; 155: 1049-1051.

4. Colpaert C, Bogers J, Hertveldt K, Loquet Dumon J, Willims P. Limb body wall complex: 4 new cases illustrating the importance of examining placenta and umbilical cord. Pathol Res Pract 2000; 196: 783-790.

5. Van Allen MI, Curry C, Walden CE, Gallagher L, Patten RM. Limb body wall complex: II. Limb and Spine Defects. Am J Med Genet 1987; 28: 549-565.

6. Mann L, Ferguson-Smith MD, Desai M, Gibson AA, Raine PA. Perinatal assessment of anterior abdominal wall defects and their prognosis, Prenat Diagn 1984; 4: 427-435.

7. Viscarello RR, Ferguson DD, Nores J. Limb body wall associated with cocaine abuse: Further evidence of cocaine’s teratogenicity. Obstet Gynecol 1992: 80: 523-526.

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