English

Abstract

Beckwith - Wiedemann Syndrome (BWS) usually present at birth is an overgrowth disorder, characterized by variable spectrum of clinical findings. The classical features include macrosomia, macroglossia, midline abdominal wall defects, hypoglycaemia in neonates and ear creases. We present a six-month-old female child with history of difficulty in sucking. Macrosomia with macroglossia was present on general examination. The infant had continuous murmur which was best heard at infraclavicular area. Mild hepatomegaly with splenomegaly was present on per abdominal examination. Echocardiography study revealed moderate size patent ductus arteriosus (PDA) with left to right shunt without pulmonary hypertension which was closed by PDA device. Beckwith - Wiedemann syndrome is an overgrowth disorder in paediatrics age group. It is estimated that BWS has an incidence of 1 in 13,700 population with equal chances in both male and female.1 An American pathologist, Dr. John Bruce and a German paediatrician named Dr. Hans-Rudolf Wiedemann, had suggested about this condition separately. Initially it had been termed EMG (exomphalos, macroglossia, and gigantism) syndrome which was thereafter referred to as Beckwith Wiedemann syndrome. Genetically BWS is said with an alteration of the organic phenomenon at the petit arm of chromosome 11 (11p15) causing over activity of growth factor IGF - 2 gene and/or no active copy of the inhibitor gene of cell proliferation - CDKN1C. Child presents with the mixture of congenital abdominal wall defects as exomphalos, macroglossia and gigantism. Some additionally present also with hemihypertrophy port-wine stain, midface hypoplasia, prominent occiput, genitourinary anomalies like enlarged kidneys, musculoskeletal abnormalities, cardiac defects and deafness.2,3 These children may grow at an accelerated pace during the latter half of the antenatal period continuing in the initial few years of life. Though, their adult heights are usually in the normal range. Here, we report a six-month-old female infant, who presented with evident features of BWS with congenital heart disease.