- December 28, 2015
- Posted by: emobile
- Category: Uncategorized
A case of Limp Body Wall Complex:
Limb body wall complex (LBWC) is a rare fetal poly malformative syndrome characterized by exencephaly/encephalocele (with or without craniofacial defect), thoraco and/or abdominoschisis, and limb defects. The diagnosis is based essentially on any two of the three features described above. The incidence at birth is about 0.21-0.31 per 10,000 deliveries, with only 245 cases described in the literature. The pathogenesis of this malformation is not clear and most of the postulations are still being debated. LBWC is invariably fatal, so it is important to make an early and correct sonographic diagnosis so that an appropriate management can be instituted. We present a case report of a newborn with LBWC born at 38 weeks gestation to a 20-year-old primigravida.
The mother was a booked, unmarried 20-year-old primigravida with an uneventful antenatal period. There was no history of consanguinity or family history of any malformation. There was no history of use of herbal medication or other drugs other than the ones prescribed during the antenatal period. No clinical evidence of oligohydramnios or polyhydramnios was noted during the antenatal period. However, an ultrasonogram done at 33 weeks suggested the presence of gastroschisis with a breech presentation. She was subsequently counselled for caesarean section at 38 weeks because of persistence of breech presentation. A live, but depressed, baby with an Apgar score of 3 and 4 in the first and tenth minutes after birth respectively, was delivered via an elective caesarean section and weighing 2.14 kg. A physical examination showed a large abdominal wall defect of about 10 cm with the evisceration of the entire small and large intestine, stomach, and liver.
The anus was absent and no discernible external genitalia were noted. The umbilical cord was at the skin margin of the anterior body wall defect and contained one artery and one vein. The chest was asymmetric and there were no major craniofacial deformities, except for low set ears. The right lower limb was absent while the left lower limb had a clubfoot with extreme vagus. The baby’s clinical condition did not improve despite all resuscitative effort and was certified dead about 1 h after delivery. No further investigations, including an autopsy, were done because of the parent’s refusal to give their consent. Discussion
LBWC is also known as the body-stalk syndrome. It is a rare clinical entity characterized by exencephaly/encephalocele with or without craniofacial defect (56%), thoraco- and/or abdominoschisis, and limb defect (95%). . Most fetuses are aborted, either spontaneously or by medical induction. Most of the remaining babies are stillborn, while postnatal survival for a significant duration is extremely rare. This was the case with our patient who was barely alive for 1hour. The pathogenesis is unclear and debatable. However, four of such pathogenic mechanisms have been proposed. These include the early amnion rupture theory, vascular disruption theory, disturbance of embryonic folding process, and germ disc defect with early embryonic mal development.
The diagnostic criteria for LBWC are still being debated, but the most commonly used is the one by Van Allen et al. 1987, in which a diagnosis is made based on the presence of two of the following three features, exencephaly/encephalocele with or without craniofacial defect, thoraco- and/or abdominoschisis, and limb defect. The debate about these diagnostic criteria is predicated on the scenario where an infant with encephalocele and limb defect is also said to have LBWC. Some authorities consider this to be inappropriate, given that the primary anomaly is the body wall defect. As a result, Martinez-Frias in 1997 suggested that those cases with body wall defect be classified in two main group: Gastroschisis, for cases with isolated (and usually small) body wall defect and LBWC, for those cases with body wall defect associated with other malformations, deformations, or disruptions, regardless of their clinical pattern and the possible etiology or pathogenic mechanism.
He further suggested that these two groups be separated from amniontic band syndrome (ABS) without body wall defect. There are two distinct phenotypes of LBWC described by Russo et al., the placentocranial adhesion phenotype which may comprise craniofacial defect, facial cleft, amniotic adhesion and amniotic band sequence. The second is the placentoabdominal adhesion phenotype in which there is no craniofacial defect but may have imperforate anus, urogenital abnormalities, lumbosacral meningomyelocele and kyphoscoliosis. Our patient presentation looks like the placentoabdominal phenotype. The two phenotypes are thought to be the consequences of different pathogenic mechanism. While the placentocranial adhesion phenotype is attributable to early vascular disruption, the placento-abdominal phenotype is attributable to intrinsic embryonal maldevelopment. Van Allen et al. divided the occurrence of limb defect in LBWC into three pathogenic groups. These include those due to disruption of embryonic vessels and surrounding tissues (84%), those due to amniotic bands and adhesions (16%), and those due to deformation versus hemorrhage (44% with clubfeet). Some limb defects may also be caused by other pathogenic mechanisms based on a study of limb defect from 25 fetuses with LBWC. Though limb defects are present in a vast majority of cases, the absence of a limb is seen in less than 10% of the cases and upper limb involvement is uncommon.
Our patient had complete absence of the right lower limb while the left lower limb had club foot. Additionally, cardiac defects, bowel atresia, and renal agenesis/dysplasia are commonly associated with LBWC. However, we could not confirm any of these in our patient because of the refusal of patient’s parent for an autopsy. The lethal nature of LBWC makes it absolutely necessary for an early prenatal diagnosis. Ultrasonographic detection of abdominoschisis, scoliosis, abnormalities of lower extremities, a single umbilical artery demonstrated by a color doppler, short umbilical cord and extremely elevated level of maternal serum alpha feto protein is the key to early diagnosis. It is also important that LBWC be differentiated from common abdominal wall defects such as gastroschisis, omphalocele and uncommon entities like ectopia cordis, amniotic band syndrome, cloacal dystrophy, and urachal cyst.Unfortunately, our patient was misdiagnosed as gastroschisis, a condition that is mostly benign. Perhaps, a routine, comprehensive anomaly scan for all pregnant women in the second trimester by a trained and experience radiologist may help to reduce cases of misdiagnosis.
Matthias M Okposio. Etal
Lily Hospital, Warri