Beckwith-Wiedemann Syndrome- A Rare Case Report. -

Introduction: Beckwith–Wiedemann syndrome (BWS) is a pediatric overgrowth disorder presents with classical features of exomphalos, macroglossia, and gigantism. Estimated incidence rate of Beckwith wiedemann syndrome is 1 in 13,700 in population. The incidence of BWS is equal in males and females. Presentation of Case: An 18 months female child was brought by parents with hypertrophy in the right upper and lower extremity since birth. Patient was delivered normally with no congenital malformations like exomphalos, macroglossia but she had frequent episodes of hypoglycemia. Ultrasonography (USG) of abdomen to rule out organomegaly and intraabdominal malignancy done which showing no abnormality. Discussion: BWS patient have increase chances of congenital abnormalities and medical complications, including abdominal wall defects, organomegaly, renal anomalies and cardiac malformations. Wilms tumor is the most common cancer in children with Beckwith-Wiedemann syndrome. It occurs in about 5-7% of all children with Beckwith-Wiedemann syndrome. Patients with Beckwith-Wiedemann syndrome (BWS) may require frequent feedings or diazoxide. Conclusion: Beckwith-Wiedemann syndrome is a rare type of congenital disorder. Early diagnosis and detection of intra abdominal malignancy should be prompt for better outcome. Phenotypic variability is more with BWS and thus certain diagnostic criteria are not fit for every patient.