Anaesthesia and orphan disease

Abstract

Huntington’s disease is an autosomal dominant disorder that affects the basal ganglia with a prevalence of four to 10 per 100 000 people. Onset is typically between 30 and 50 years of age. There is also a juvenile onset of the disease wherein the symptoms begin before aged 20; this occurs in 10% of affected persons. This latter group is more prone to seizures, has impaired glucose metabolism and often inherits the disease in a sex-linked manner from the father. Genetic tests can confirm the diagnosis, even prenatally. Symptoms include choreic movements, personality disorders and impairment of swallowing and gag reflexes. The anaesthetic management of a patient with Huntington’s disease provides particular challenges due to the risk of pulmonary aspiration and altered responses to anaesthetic drugs. Prolonged apnoea of between 1 and 2 h has been reported after the use of thiopentone and suxamethonium, and there is an increased sensitivity to anticholinergics. Whether these patients have low levels of atypical pseudocholinisterases remains unanswered. We know of no previous reports of the use of sugammadex in the anaesthetic management of patients with Huntington’s disease. We have obtained the patient’s written consent for publication of this case report.