[Anesthesia and intensive therapy in autonomic dysfunction].

Abstract

Familial dysautonomia (Riley-Day syndrome) is a rare genetic disorder that is transmitted via an autosomal recessive gene. The disease, typically involving Jewish children, affects the central nervous system and can be characterised by pathological deficits in peripheral autonomic and sensory neurones. The signs, which begin in early childhood, include poor perception of pain and temperature, poor co-ordination of muscles, emotional crises with hypertension and profound sweating, postural hypotension, and excessive vagal reflexes. We present the case of a 1.5-year-old child who underwent general anaesthesia for gastrostomy and fundoplication because of chronic aspiration. The technique consisted of balanced anaesthesia with invasive monitoring: intra-arterial line, central venous catheter, pulse oximetry, capnography, and monitoring of urinary output, temperature, and metabolic changes. Pulmonary problems included a dramatic decrease in SaO2 during intubation, massive bronchial secretions, and a high fluid requirement. The haemodynamic parameters remained stable. In the postoperative period, pulmonary problems included severe pneumonia with variable pulmonary shunting and requiring an inspired oxygen fraction of between 0.5 and 1.0, accompanied by bronchoconstriction, atelectasis, and profuse bronchial secretions. Controlled ventilation had to be maintained for 4 days. The cardiovascular system was unstable with intermittent episodes of bradycardia, tachycardia, and hypo- or hypertension. The patient also showed signs of autonomic crises, which were treated with diazepam. Although patients with autonomic dysfunction are at high risk in the perioperative period, they can be managed safely when therapeutic efforts are optimised.