Department of obstetric and gynecology, St Pierre and Iris Sud Hospitals, Free university of Brussels, Belgium.

Introduction

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.

Case report

A 42-year-old patient, G5P2, was referred to our hospital for a follow-up of her 13 weeks old pregnancy. In her obstetrical history two cesarean sections were noted. The last one was due to a twin pregnancy with breech/vertex fetal presentations 9 months before her ongoing pregnancy. It is worth of mentioning that at 5 weeks of gestation, the patient underwent an X-ray abdominal scanning due to a suspected occlusion syndrome at the emergency department. Her first echographic examination at 13 weeks of gestation revealed an intra uterine pregnancy with multiple malformations. An anterior body wall defect was the predominant feature of sonographic examination with evisceration of the heart, stomach and bowel which were found floating in the persistent extraembryonic coelom. Skeletal anomalies included hypoplasia of the left forearm with only one bone fragment being present, hypoplasia of the hand with absence of fingers and apparent kyphoscoliosis (Images 1, 2, 3, 4, 5). The amount of the amniotic fluid was normal, but the umbilical cord was not visualized because the fetus was coupled with the extraembryonic coelom. Placenta was found to be praevia and suspected to be accreta infiltrating the uterine scar without evident limits between the placenta and the myometrium and with an intense vascularization reaching even the serosa (figure 6). The diagnosis of placenta accreta was confirmed by an MRI.

A medical interruption of pregnancy was proposed to the parents. A Brindeau caesarean section was done at sixteen weeks. During operation placenta was found to infiltrate the old uterine scar which was finally removed as well as the pregnancy. Blood loss was estimated at 1700 cc and the patient was transfused. Pathologic examination (Image 7) confirmed the diagnosis of the limb body wall complex syndrome and placenta accreta.

Patient’s postoperative course was uncomplicated and she was discharged home 6 days later.

Images 1, 2: The image 1 shows the laparoschisis with the evisceration of the fetal organs into the extraembryonic coelom; the image 2 shows the fetal thoracoschisis.

Images 3, 4: The image 3 shows the fetal kyphoscoliosis; the image 4 shows the normal fetal head.

Images 5, 6: The image 5 shows a left upper limb abnormality – only one bone can be seen without the forearm and hand; the image 6 shows an enhanced abnormal blood flow within the previous C section scar reaching the uterine serosa. The placenta previa and accreta was indicated.

Image 7: Pathological specimen after the artificial abortion showing the fetus with the thoraco-abdominal celosomia, kyphoscoliosis and left upper limb abnormality.

Discussion

Definition

Limb body wall complex was described for the first time by Van Allen et al. in 1987 (1, 2). Two of the three following anomalies must be present to establish the diagnosis:

1. Thoracic and/or abdominal celosomia.
2. Exencephaly or encephalocele with a facial cleft.
3. Anomalies of the extremities.

Up to date the nosologic definition and limits are still discussed. For certain authors the anomaly consists of a poly-malformation syndrome with a thoraco- and/or abdomino-schisis associated with an eventration of the internal organs and anomalies of the extremities (3, 4). Russo et al. in 1993 (5, 6) and later Cusi et al. in 1996 distinguished two different phenotypes according to the fetoplacental relationships.

In the phenotype with the “cranio-placental attachment” a neural tube closure defect is associated with one or more complex facial clefts and an anterior coelosomy, whereas amniotic bands are inconstant and anomalies of the extremities, if any, touch primarily the upper limbs (5, 6, 7, 8).

In the phenotype with the “abdomino-placental attachment” the authors describe:

1. A persistence of the cavity of the extraembryonic coelom containing the exteriorized abdominal organs. The sac connects the cutaneous edge of the parietal defect to placental surface. The umbilical cord is always localized on the wall of this bag; it is short, non-free and is incompletely covered by the amnion.

2. Urogenital anomalies and the persistence of the primitive cloaca.

3. Rachidian anomalies.

Anomalies of the members are optional and affect primarily the lower limbs. The placenta is separated in two parts by the abdomino-placental attachment: one corresponds to the amniotic cavity containing the fetus, the other to the extraembryonic coelom containing the eventrated organs. Neither cerebral malformations nor amniotic bands have been described in this phenotype (8).

Epidemiology

The limb body wall complex syndrome is not always recognized; therefore, its   incidence is difficult to estimate. Kurosawa et al. estimated the incidence in approximately 0, 21 to 0, 31 cases per 10,000 births and found no connection to fetal sex, parental age or any other associated genetic anomalies (9, 10). More recently, Luehr et al. presented a series of 11 cases out of 33,286 births with a higher incidence: 3.3:10,000 births. Several environmental factors (tobacco, alcohol and certain drugs) were accused in this report with an assumption of a possible genetic predisposition (11).

Physiopathology

Pathogenetic origin of this syndrome is not thoroughly investigated and there are three main theories discussed below:

1. Exogenic theory: Torpin et al. described in 1965 (12) this theory which is based in amnions’ early rupture leading to the formation of amniotic bands. Several pathogenetic factors have been accused like abdominal trauma, toxic agents and oral contraception early in the first trimester. Amniotic bands interrupt embryogenesis, are responsible for deformations and mutilations of the already formed fetal structures.

2. Endogenous or vascular theory which was described by Van Allen et al. in 1987 and suggests an ischemic accident of the embryonic vessels between 4 and 6 weeks of gestation as the origin of this disease (1). According to this theory, ischemia leads to a significant loss of fetal tissue, impairment of fetal development, abdominal wall disclosure, persistence of the extraembryonic coelom and adhesion of the amnion to the necrotized fetal parts.

3. Streeter’s theory initially described in 1930 and subsequently developed by Hartwig (15) is based on the assumption of an impaired folding process of the embryon. Hartwig primarily accused an anomaly of development of the embryonic pedicle and secondarily a disruption in the caudal and lateral folds which take place later than 32nd day of gestation. These anomalies, according to authors, lead to abdominal wall defects,   persistence of the extraembryonic coelom, anomalies of the cord, placenta and membranes and the persistence of the primitive cloaca (5).

Taking for granted that these three theories cannot entirely explain the pathophysiology of this complexed syndrome, Mastroiacovo et al suggested that the limb body wall complex needs to be divided into two different entities (16, 8): the entity with placento-cranial attachment, also called “original”, and the form with palcento-abdominal attachment also called “body stalk syndrome”.

Ultrasonographic findings

Ultrasonographic diagnosis of the limb body wall complex is made at the end of the first trimester with the following anomalies constantly met (17):

• Persistence of the extraembryonic coelom is the first detected sign (8), associated with the abdominal or thoracic wall defect and eventrated organs which are difficult to identify.

• The lesions of the members: one or more members or segments are missing. Absence of this sign does not eliminate diagnosis.

• Placental attachment is either placento-cranial or abdomino-placental.

• Severe kyphoscoliosis.

Other signs can be observed according to phenotype. More specifically in the cranio-placental attachment form sonography can also detect:

• neural tube closure defects;

• broad and complex facial clefts;

• amniotic bands without a Doppler signal.

On the other hand, in cases with abdomino-placental attachment additional echographic signs are:

• urogenital anomalies e. g. renal aplasia or dysplasia, hydronephrosis, vesical extrophy;

• myelomeningocele and/or spina bifida;

• anomalies of the umbilical cord; short cord syndrome;

• abnormal adhesion of the members to the placenta or the membranes;

• a reduction in the number of active fetal movements was observed because of the fetoamniotic adherence or oligohydramnios.
  

Differential diagnosis

Numerous diseases should be excluded before establishing the limb body wall complex diagnosis with the following being the most important:

1. Amniotic band syndrome (13, 18) which is characterized by the following signs:

- constriction or asymmetrical amputation of an end of a member with a lymphedema beneath the level of constriction;
- asymmetrical cranio-facial malformation (encephalocele, cleft palate);
- celosomia;
- pseudo-syndactyly;
- amniotic bands in contact with the fetal injured pole and not vascularized (19).

Occasionally oligohydramnios, reduction of active fetal movements and boot-feet are present. Some authors consider the limb body wall complex as a severe form of amniotic band syndrome since 40% of amniotic bands are found in body stalk anomaly (20, 21).

2. Cantrell’s pentalogy (22) which is a rare congenital malformation, characterized by an anomaly of the lower part of the sternum, a diaphragmatic defect, an anomaly of the pericardium, a cardiac ectopia, intracardiac anomalies and a supra umbilical abdominal defect. Etiology is unknown but there are some hereditary forms described which are related to X chromosomes (23) as well as some cases associated to viral infections and trisomies 21, 18 and 13. Diagnosis is established echographically generally in the second trimester.

3. Cloacal extrophy which is a rare malformation with an estimated rate 0.05:10,000 births, consisted of an omphalocele, a bladder exstrophy, an anal imperforation, a myelomeningocele as well as other renal, genital and skeletal anomalies. It needs to be mentioned that there is never bladder exstrophy in the limb body wall complex (24).

Conclusion

The limb body wall complex is a syndrome with multiple malformations which can nowadays be established early and precisely thanks to the fascinating progress of sonographic technology. Curiously our case associates the limb body wall complex and the placenta praevia accreta which are two abnormalities related to the fetal annexial tissues.

References

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