Anaesthethic management on a pediatric patient with Sengers syndrome. Case report

Abstract

Sengers Syndrome is an autosomal recessive mitochondrial myopathy caused by mutations of the acylglycerol kinase gene, which leads to an abnormal musculoskeletal and myocardial lipid and glycogen accumulation. It is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy and lactic acidosis (especially under stress condition). Therefore, cataract surgery might be indicated. Currently there is no treatment or management formalised for this disease, meaning it is a challenge in clinical practice. We introduce a case of perioperative anaesthetic management on a patient with Sengers Syndrome, considering its interest as it is one of the first known cases undergoing general anaesthesia.