Case report of a Rare Cause of Portal Hypertension

Williams or Williams-Beuren (WBS) is a developmental disorder with multisystemic manifestations. Chromosome 7 microdeletion underlying WBS occurs because of the unique genetic architecture in this region. Facial features change from subtle to dramatic. The extent of mental and development problems is variable. Cardiovascular, endocrine, and nervous system involvement mostly affect the morbidity and mortality. Although many systems are involved in this syndrome, portal hypertension and splenomegaly are scarcely reported. We report a case of William syndrome with moderate splenomegaly and portal hypertension.

Sedation in a patient with William Syndrome without supravalvular aortic stenosis and normal QT: Challenge still remains

William Syndrome (WS) is a rare genetic condition related to deletion of elastin gene resulting in distinctive facies, cardiovascular diseases, learning difficulties, developmental delay, unique personality characteristics, endocrine involvement, etc.1 Although successful anaesthesia is reported, literature review indicate significant major adverse cardiac events (MACE) including sudden death, as frequent.2 So anaesthetic management of these patients has proved to be challenging. The cardiovascular abnormality, corrected QT, and cardio-depressant actions of anaesthetic drugs need critical considerations.