Beckwith-Wiedemann Syndrome: A Case Report at the Gynaeco-Obstetric and Pediatric Hospital in Yaounde, Cameroon

Abstract

Beckwith-Wiedemann syndrome is a rare congenital syndrome, but one of the most common among overgrowth syndromes. It was described firstly by Beckwith in 1963. The incidence of BWS is about 1:13 700 births, with an equal sex distribution. It is characterized by macrosomia, macroglossia, omphalocele and anterior abdominal wall defects. It is a complex multigenic disorder caused by dysregulation of the gene printed on chromosome 11p. 15. A relationship has been established between assisted fertilization methods and its occurrence. This syndrome predisposes to childhood cancer. Its incidence is not known in developing countries such as Cameroon due to the rarity of reported cases, variability in the presentation of the syndrome, financial constraints and lack of access to genetic and molecular studies. In our opinion, we are reporting the first case of Beckwith-Wiedemann syndrome in our country. We present here the case of a newborn female baby delivered at the gyneco-obstetric and pediatric hospital in Yaounde and admitted to our neonatology unit. The diagnosis was made on the basis of clinical signs suggestive of Beckwith-Wiedemann syndrome. She presented an omphalocele diagnosed on antenatal ultrasound, macrosomia, macroglossia and ear abnormalities. The case is presented to raise awareness and highlight the particularity of the management of this rare disease.