Open AccessWilliams–Beuren syndrome: pitfalls for diagnosis in limited resources setting
Author(s) -
Lumaka Aimé,
Lukoo Rita,
Mubungu Gerrye,
Lumbala Paul,
Mbayabo Gloire,
Mupuala Aimée,
Tshilobo Prosper Lukusa,
Devriendt Koenraad
Publication year - 2016
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.476
Subject(s) - medicine , intellectual disability , pediatrics , facial dysmorphism , pediatric infectious disease , intensive care medicine , psychiatry , genetics , biology , gene , phenotype
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.