CASE 11048 Published on 24.06.2013

Sonographic findings in limb body wall complex or cyllosomas

Section

Paediatric radiology

Case Type

Clinical Cases

Authors

Arvinder Singh1, Poonam Ohri1, Sohan Singh1, Harbhajan Kaur2, Neelam Gauba1, Suman Bhagat1, Bhupinder Wassan1

1.Radiodiagnosis Department, Government Medical College Amritsar,Punjab, India;
2.Obstetrics & Gynae Department, Government Medical College Amritsar,Punjab, India;
Email:arvinderdr@rediffmail.com
Patient

24 years, female

Categories
Area of Interest Foetal imaging ; Imaging Technique Ultrasound, Image manipulation / Reconstruction
Clinical History
A 24-year-old woman with 21 weeks of gestation was referred by Obstetrics department to Radiodiagnosis Department for routine antenatal sonography. She was G1P0A0 at the time of scanning. She gave a history of non- consanguineous marriage and was not on any drugs or chronic medication.
Imaging Findings
Antenatal sonography showed a live fetus with 21 weeks gestation. Foetal skull was deformed giving ‘lemon head’ appearance with marked dilatation of the lateral ventricles [Fig.1]. Fetal spine was short [Fig.2]. The anterior thoracoabdominal wall was absent and abdominal contents were in direct contact with the extra-embryonic coelomic fluid. A well-defined cystic lesion measuring about 3.4 x 2.3 cm was seen in abdomen [Fig.3]. Partial ectopic cordis was noted with apex of heart protruding through the thoracic defect [Fig.4]. Only one lower limb was detected which showed ‘club foot’ appearance [Fig.5]. Umblical cord was short and showed a single umblical artery [Fig.6]. Amniotic fluid was adequate.
Post natal examination of fetus showed absence of anterior thoracoabdominal wall with herniation of intra-abdominal contents. Ectopia cordis was noted. The caudal region of fetus was absent with single lower limb having club foot appearance [Fig.7].The diagnosis of LBWC was finally confirmed postnatally.
Discussion
Limb body wall complex is a rare polymalformative fetal syndrome of unknown aetiology which results in abnormalities of head, heart, lung, diaphragm, kidney or gonadal abnormalities. It was first described by Van Allen et al in 1987. 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 characterised 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. The presence of two of the following three malformations:
1. Exencephaly/Encephalocele with facial clefts
2.Thoraco and/or Abdominoschisis
3.Limb defects [1].

The reported prevalence of limb body wall complex is 1 in 14,000 live births. A variety of hypotheses to explain the pathogenesis of body stalk anomaly include embryonic dysplasia, teratogenic exposure in early pregnancy, mechanical damage due to early amnion rupture and vascular disruption of the early embryo. [2, 3]

Ultrasonographic detection of abdominoschisis, scoliosis, abnormalities of the lower extremities, a single umbilical artery, a short umbilical cord and an extremely elevated level of alpha feto proteins is the key to the early diagnosis. Ultrasonographically, the principal findings are thoracoabdominal defect, limb anomalies, spinal and cord abnormalities. The severity of the defects and a distorted appearance of the fetus make recognition of the fetal parts difficult in almost all cases of LBWC. Spinal abnormalities range from scoliosis usually severe to spinal dysraphic defects. The umbilical cord is short and adherent to the placental membranes. A single umbilical artery is commonly present, similar to our case presentation [4]. Fetuses with LBWC predominantly present abdominal wall defects and limb anomalies with or without craniofacial defects [5].

Differential diagnosis of LBWC are gastroschisis, omphalocele, ectopia cordis, cloacal dystrophy, urachal cyst [6].

The importance of early antenatal diagnosis of this condition lies in differentiating it from gastroschisis which has better prognosis [3].

Teaching Point

LBWC or Cyllosomes is a rare multiformative abnormality comprising of head, spinal and limb deformaties with anterior abdominal defect. Raised alpha feto protein along with sonography is the key to the diagnosis.
Differential Diagnosis List
Type II limb body wall complex- thoracoabdominoschisis
Omphalocele
Gastroschisis
Final Diagnosis
Type II limb body wall complex- thoracoabdominoschisis
Case information
URL: https://www.eurorad.org/case/11048
DOI: 10.1594/EURORAD/CASE.11048
ISSN: 1563-4086

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