The diagnosis of Beckwith-Wiedemann syndrome in a child and psychological implications to parents – A case report

Abstract

INTRODUCTION: While Beckwith-Wiedemann syndrome is among rare genomic imprinting disorders, its diagnosis still presents challenges in clinical settings. Therefore, the aim of this work is to present different phenotypic features of this syndrome. CASE PRESENTATION: We reviewed two-month-old patient referred to the genetic unit at Rwanda military hospital, Kigali, Rwanda. Physical examinations indicated severe larger birth length (macrosomia), Overgrowth of the right side of lower limbs (hemihypertrophy/hemihyperplasia), larger tongue (macroglossia) and bigger abdomen. We performed karyotype and revealed a normal male chromosomal formula: 46,XY. CONCLUSION: Based on the phenotypic clinical features, the patient was diagnosed with Beckwith-Wiedemann Syndrome. However, cytogenetic tests performed were not advanced and should not rule out epigenetic abnormalities that should account for phenotypic features of this syndrome in our patient.

Keywords

• genome
• gene
• macroglossia
• epigenetics
• methylation