Clinical Diagnosis of Leopard Syndrome

Abstract

Introduction: Leopard syndrome is an autosomal dominant genodermatosis, whose most frequent phenotypic findings are multiple lentigines or café-au-lait spots, electrocardiographic abnormalities, ocular hypertelorism, valvular pulmonary stenosis or hypertrophic cardiomyopathy, genital abnormalities, growth retardation and deafness. However, none of these are pathognomonic or constant. Objective: To report a case of Leopard syndrome whose diagnosis was based on clinical criteria. Case report: A 16-year-old male adolescent presented a skin condition disseminated over almost the entire body surface, multiple ephelides and lentigines of variable size and color, café-au-lait and black coffee spots associated with unilateral cryptorchidism and cardiovascular alterations clinically manifested by syncope and bradycardia, conduction disorders on the electrocardiogram and myxomatous degeneration of the mitral, tricuspid and pulmonary valves; with mild to moderate insufficiency of these valves and elongated mitral valve leaflets on echocardiogram. The patient was evaluated by a multidisciplinary team, which agreed that the clinical findings were conclusive of Leopard syndrome. Conclusions: It is possible to diagnose Leopard syndrome according to clinical criteria. Early diagnosis, assessment of cardiovascular complications and multidisciplinary care are essential for proper treatment of the patient.