A case report of interventricular hemorrhage in William-Beuren syndrome

BACKGROUND: Williams syndrome (WS) (also as known Williams-Beuren Syndrome) is a neurodevelopmental disorder caused by deletion of chromosomes 7q11.23. WS phenotype is very variable but usually it is associated with a distinctive pattern of cognitive abilities. CASE PRESENTATION: 9-year-old female p...

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Detalles Bibliográficos
Autores principales: Alghobaishi, Abdullah, Mousa, Ahmed Hafez, Almonaye, Haleema Sami, Maghrebi, Tasneem Khalid, Amin, Abeer, Al Sharif, Fawziah Alzaid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9422350/
https://www.ncbi.nlm.nih.gov/pubmed/36045762
http://dx.doi.org/10.1016/j.amsu.2022.104305
Descripción
Sumario:BACKGROUND: Williams syndrome (WS) (also as known Williams-Beuren Syndrome) is a neurodevelopmental disorder caused by deletion of chromosomes 7q11.23. WS phenotype is very variable but usually it is associated with a distinctive pattern of cognitive abilities. CASE PRESENTATION: 9-year-old female patient known case of developmental delay and precocious puberty presented to the emergency department with altered level of consciousness, elevated blood pressure of 230/160 with a provisional diagnosis of hypertensive encephalopathy. CONCLUSIONS: In our patient, the strongest indications for establishing the diagnosis included the classic elfin face and multisystemic involvement. Later on genetic analysis confirmed our diagnosis.

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