Case report Anaesthetic implications of LEOPARD syndrome JAVIER TORRES MD MD , PIERANTONIO RUSSO MD MD AND JOSEPH D. TOBIAS MD MD The Departments of Child Health, Anesthesiology and Cardiothoracic Surgery, The Division of Pediatric Critical Care/Pediatric Anesthesiology, The University of Missouri, Columbia, MO, USA Summary LEOPARD syndrome is a neuroectodermal disorder presumed to result from an abnormality in neural crest cells. The acronym ‘LEOPARD’ is derived from the clinical features which include multiple lentigines, electrocardiographic abnormalities, ocular hyper- telorism, pulmonary stenosis, abnormal genitalia, retarded growth, and deafness. Given the multisystem nature of the disease process, several issues may affect the perioperative care of these patients. Of primary importance are associated conditions of the cardiovascular system including congenital heart disease, conduction disturbances, and progressive hypertrophic obstructive cardiomyopathy. The authors present a 4-year old boy who presented for anaesthetic care for repair of a ventricular septal defect and pulmonary valvotomy for congenital pulmonary stenosis. The potential perioperative implica- tions of LEOPARD syndrome are discussed. Keywords: LEOPARD syndrome; congenital heart disease; cardio- myopathy; lentigines: craniofacial abnormality; anaesthesia Introduction LEOPARD syndrome, also known as Moynahan syndrome, is classified as a cardiocutaneous syn- drome of neural crest origin (1). The acronym ‘LEO- PARD’ coined by Gorlin et al. in the 1960s is derived from the clinical features which include multiple lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal geni- talia, retarded growth and deafness (2). The disorder is transmitted as an autosomal dominant trait with high penetrance and significant variation in clinical expression. Several potential theories have been proposed to explain the pathogenesis of the syn- drome. The unifying feature of these theories is an abnormality of neural crest cell. The cells derived from the neural crest form spinal and autonomic ganglion cells, Schwann cells of peripheral nerves, as well as sympathetic terminations in the cardiac ventricles. Neural crest cells also give rise to melano- cytes thereby explaining the associated lentigines. Patients with LEOPARD syndrome most fre- quently present for evaluation and treatment of their cardiac disease which may include rhythm disturbances, congenital structural lesions, or a Correspondence to: Joseph D. Tobias, Vice-Chairman, Department of Anesthesiology, Director, Pediatric Critical Care/Pediatric Anesthesiology, Professor of Anesthesiology and Child Health, Department of Anesthesiology, The University of Missouri, 3W40H, One Hospital Drive, Columbia, MO 65212, USA (email: Tobiasj@health.missouri.edu). Pediatric Anesthesia 2004 14: 352–356 352 Ó 2004 Blackwell Publishing Ltd