Meningocele in a congolese female with beckwith-wiedemann phenotype

Sébastien Mbuyi-Musanzayi; Toni Lubala Kasole; Aimé Lumaka; Tony Kayembe Kitenge; Leon Kabamba Ngombe; Prosper Kalenga Muenze; Prosper Lukusa Tshilobo; François Tshilombo Katombe; Célestin Banza Lubaba Nkulu; Koenraad Devriendt

doi:10.1155/2014/989425

Meningocele in a congolese female with beckwith-wiedemann phenotype

Case Rep Genet. 2014:2014:989425. doi: 10.1155/2014/989425. Epub 2014 Dec 28.

Affiliations

¹ Department of Surgery, University Hospital, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of the Congo ; Center for Human Genetics, Faculty of Medicine, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of the Congo.
² Center for Human Genetics, Faculty of Medicine, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of the Congo ; Department of Pediatrics, University Hospital, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of the Congo.
³ Department of Pediatrics, University Hospital, University of Kinshasa, P.O. Box 123, Kin XI, Kinshasa, Democratic Republic of the Congo ; Center for Human Genetics, University Hospital, KU Leuven, Campus Gasthuisberg, Herestraat 49, P.O. Box 602, 3000 Leuven, Belgium.
⁴ Unit of Toxicology and Environment, School of Public Health, University Hospital, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of the Congo.
⁵ Center for Human Genetics, Faculty of Medicine, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of the Congo ; Department of Gynecology, University Hospital, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of the Congo.
⁶ Department of Surgery, University Hospital, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of the Congo.
⁷ Center for Human Genetics, University Hospital, KU Leuven, Campus Gasthuisberg, Herestraat 49, P.O. Box 602, 3000 Leuven, Belgium.

Abstract

Beckwith-Wiedemann syndrome (BWS) is a rare congenital syndrome characterized by an overgrowth, macroglossia, exomphalos, and predisposition to embryonal tumors. Central nervous abnormalities associated with BWS are rare. We describe a one-day-old Congolese female who presented meningocele associated with BWS phenotype.