A neglected Beckwith-Wiedemann Syndrome revealed by a severe macroglossia

Abstract

French Title: Le syndrome De Beckwick-Wiedemann neglige revele par une macroglossie severe

The Beckwick-Wiedemann is a congenital syndrome (BWS) characterised by macroglossia, and other symptoms as abdominal wall congenital defect or hemihypertrophy. Some of the hallmark symptoms can appear lately after birth rending the diagnosis difficult. We present a case of  macroglossia revealing a BWS in a 12-year-old girl, the social implications and the early surgical outcome. After a history of abdominal wall repair in early childhood, the girl was admitted to our Plastic and Reconstructive surgery department for dysarthria caused by the overgrowth tongue. The severe macroglossia, the congenital laparoschisis, and a hemi-body overgrowth lead to the BWS diagnosis. The surgical glossectomy using a keyhole technique provided good cosmetic results. The girl was lost in the follow-up screening. The frequency of congenital abnormalities is still underestimated in Africa especially in remote areas. The presence of a macroglossia might urge clinical examination seeking other BWS symptoms.

Keywords: Macroglossia, Beckwith-Wiedemann syndrome, congenital abnormality, glossectomy, Africa.