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 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.