Williams–Beuren syndrome: pitfalls for diagnosis in limited resources setting. Issue 3 (12th February 2016)

• Record Type: Journal Article
• Authors: Lumaka, Aimé; Lukoo, Rita; Mubungu, Gerrye; Lumbala, Paul; Mbayabo, Gloire; Mupuala, Aimée; Tshilobo, Prosper Lukusa; Devriendt, Koenraad
• Is Part Of: Clinical case reports. Volume 4:Issue 3(2016)
• Page Start: 294
• Page End: 297
• Publication Date: 2016-02-12
• Subjects: Central Africa -- Democratic Republic of Congo -- phenotype -- Williams syndrome; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.476
• Languages: English
• ISSNs: 2050-0904

Abstract

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. Abstract : 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.