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A case report of interventricular hemorrhage in William-Beuren syndrome.
Alghobaishi, Abdullah; Mousa, Ahmed Hafez; Almonaye, Haleema Sami; Maghrebi, Tasneem Khalid; Amin, Abeer; Al Sharif, Fawziah Alzaid.
Afiliação
  • Alghobaishi A; Department of Pediatrics, Pediatrics Critical Care Medicine, King Fahad Armed Forces Hospital, Jeddah, Saudi Arabia.
  • Mousa AH; Department of Pediatrics, Saudi German Hospital, Jeddah, Saudi Arabia.
  • Almonaye HS; College of Medicine and Surgery, Batterjee Medical College, Jeddah, Saudi Arabia.
  • Maghrebi TK; Department of Pediatrics, Saudi German Hospital, Jeddah, Saudi Arabia.
  • Amin A; Children's Health Center, Department of Pediatrics, International Medical Center, Jeddah, Saudi Arabia.
  • Al Sharif FA; College of Medicine and Surgery, Batterjee Medical College, Jeddah, Saudi Arabia.
Ann Med Surg (Lond) ; 80: 104305, 2022 Aug.
Article em En | MEDLINE | ID: mdl-36045762
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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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Ann Med Surg (Lond) Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Arábia Saudita

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Ann Med Surg (Lond) Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Arábia Saudita