ANESTHETIC AND PERIOPERATIVE MANAGEMENT OF A CHILD WITH FAMILIAL DYSAUTONOMIA (RILEY-DAY SYNDROME)

Familial dysautonomia (Riley-Day syndrome) is a rare genetic disorder that is transmitted via an autosomal recessive gene. The disease, typi cally involving Jewish children, affects the central nervous system an d can be characterised by pathological deficits in peripheral autonomi c and sensory neurones. The signs, which begin in early childhood, inc lude poor perception of pain and temperature, poor co-ordination of mu scles, emotional crises with hypertension and profound sweating, postu ral 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 consi sted of balanced anaesthesia with invasive monitoring: intra-arterial line, central venous catheter, pulse oximetry, capnography, and monito ring of urinary output, temperature, and metabolic changes. Pulmonary problems included a dramatic decrease in SaO2 during intubation, massi ve bronchial secretions, and a high fluid requirement. The haemodynami c parameters remained stable. In the postoperative period, pulmonary p roblems included severe pneumonia with variable pulmonary shunting and requiring an inspired oxygen fraction of between 0.5 and 1.0, accompa nied by bronchoconstriction, atelectasis, and profuse bronchial secret ions. Controlled ventilation had to be maintained for 4 days. The card iovascular system was unstable with intermittent episodes of bradycard ia, tachycardia, and hypo- or hypertension. The patient also showed si gns of autonomic crises, which were treated with diazepam. Although pa tients with autonomic dysfunction are at high risk in the perioperativ e period, they can be managed savely when therapeutic efforts are opti mised.