Familial dysautonomia: deep sedation and management in endoscopic procedures

Familial dysautonomia is a rare genetic disorder that affects the development of the central nervous system, causing GI dysfunction. Because of an improved prognosis, elective surgical procedures are more common and present a unique problem to the anesthesiologist. All patients reported in the literature underwent these interventions under general anesthesia in the operating theater. We report our preliminary experience with deep sedation in the endoscopy room in patients with this rare syndrome.

Four girls (7-16 yr old) underwent percutaneous endoscopic gastrostomy insertion and/or endoscopic retrograde cholangiopancreaticography. Preprocedure management consisted of adequate hydration and anxiolysis. Intraprocedure management consisted of stabilization of an erratic autonomic nervous system. Midazolam (0.1-0.2 mg/ kg) was administered i.v. before the procedure. Deep sedation was accomplished with propofol i.v. (0.5-1 mg/kg) and maintained with a propofol drip (50-100 microg/kg/min). Recovery was managed in the gastroenterology unit of our facility.

Body temperature, ventilation, heart rate, blood pressure, oxygen saturation, and end-tidal CO2 were stable during the endoscopies. The patients regained consciousness at the end of the endoscopy and were able to drink or to eat as normal. Pain that could precipitate a crisis was present in two patients and was successfully treated with a simple analgesic. No other complications occurred.

This rare genetic disorder presents unique management problems to the anesthesiologist, resulting in morbidity and mortality when general anesthesia is used. Our patients received appropriate management before endoscopy, and we performed the procedure under deep sedation. No complications occurred. We are thus confident that deep sedation in the endoscopy suite is safe in this rare syndrome.