Williams–Beuren syndrome: pitfalls for diagnosis in limited resources setting

Aim
e Lumaka1,2,3,4, Rita Lukoo3, Gerrye Mubungu1,2,3,4, Paul Lumbala2,3, Gloire Mbayabo2,3, Aim
ee
Mupuala3, Prosper Lukusa Tshilobo1,2,3,4 & Koenraad Devriendt1

1Center for Human Genetics, University Hospitals Leuven, Katholieke Universiteit Leuven, Leuven, Belgium
2Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of the Congo
3Department of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of the Congo
4Institut National de Recherche Biomedical, Kinshasa, Democratic Republic of the Congo

Key Clinical Message
Patients with Williams–Beuren Syndrome can be recognized clinically, given the characteristic dysmorphism, intellectual disability, and behavior. We report on a Congolese boy with typical WBS facial characteristics. He suffered meningitis and coma at the age of 2 years then subsequently presented with profound intellectual disability and atypical behavior. The WBS was only made at age 8.2 years and confirmed with FISH testing and microarray-CGH. The present report aims to warn clinicians that infections may associate and/or modify a genetic disease as this may be observed in developing countries given the prevalence of infectious diseases.
Keywords
Central Africa, Democratic Republic of Congo, phenotype, Williams syndrome

©2016. The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.