Limb body wall complex or body stalk complex or cyllosomas: a case report

Abstract

Limb body wall complex (LBWC) is also called Body stalk complex and Cyllosomas. 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. Limb body wall complex / Body stalk anomaly refers to a rare complicated polymalformative fetal malformation syndrome of uncertain etiology and results in head, heart, lung, diaphragm, kidney or gonadal abnormalities. LBWC was first described by Van Allen et al; in (1987). The two of the three following anomalies must be present to establish the diagnosis: 1. Exencephaly / Encephalocele with facial clefts, 2. Thoraco-Abdominoschisis / ventral body wall defects and 3. Limb defects. LBWC arises as a result of early amnion disruptions or error in embryonic development. If all components of the syndrome are present, the condition is lethal. LBWC is invariably fatal and incompatible with life. No case of postnatal survival is reported so far. Serum alpha-fetoprotein measurement and ultrasonography examination is the key to the prenatal diagnosis and followed by medical termination of pregnancy. It presents two distinct phenotypes described by Russo et al (1993) and later Cusi et al in (1996), according to the foetoplacental relationships: 1. Placento-cranial and 2.Placento-abdominal types. Among the 168 live births at S.V.S. Medical College & hospital Mahabubnagar (INDIA) during the period of 2010-2011 we came across an aborted female fetus. It was weighing 1800gms, 30 weeks of gestation diagnosed by antenatal ultrasonography as ventral body wall defect. It was associated with ompholocele, severe scoliosis and limb defects. Its confirmation of the diagnosis of Limb body wall complex with Placento-abdominal type was done by postmortem fetography.