engleski

Sudden death under anesthesia of the child with Williams syndrome

Williams syndrome (WS) is a rare genetic disorder which involves the elastin gene and is characterized by developmental abnormalities, craniofacial dysmorphic features and cardiac anomalies. WS occurs in approximately 1 in 10, 000 births worldwide. Sudden death has been described as a very common complication associated with anesthesia, surgery and procedures in this population. We present a case of a two-months-old child who was admitted to hospital because of inguinal hernia incarceration. At the beginning of anesthesia, he became pale and started to breathe heavily. Electrocardiography (ECG) reveled wide QRS complexes with frequency of 130-150 bpm. Resuscitation was unsuccessful. The autopsy was performed the following day. There was no evidence of trauma. External examination revealed the elfin face characteristics including a long philtrum, wide mouth, full lips, prominent lower lip, small chin (micrognathia), a flat nasal bridge and puffiness around the eyes. Internal examination revealed cerebral oedema, biventricular hypertrophy, hydrothorax and hydroperitoneum. The ascending aorta, above the coronary ostia, and both pulmonary arteries were diffusely narrowed with severe thickening of the wall. There were also some superficial mucosa erosions with the blood content inside the small intestine. Inguinal canal was expended on the right side, without incarceration. We concluded that the cause of death was heart failure due to congenital aortic stenosis and biventricular hypertrophy.

Williams syndrome ; sudden death ; anesthesia

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