Cardiac Tamponade Revealing an “APECED Syndrome”, an Unsual Manifestation in a 7-Year-Old Moroccan Girl: A Case Report

Abstract

Background: APECED or multiple endocrine deficiency autoimmune candidiasis syndrome is a rare disease characterized by the manifestation of autoimmune endocrinopathies in a peculiar sequence during infancy. The clinical diagnosis of APECED requires the presence of at least two of these three major components: Chronic mucocutaneus candidiasis, hypoparathyroidism and or primary adrenal insufficiency. Genetic testing is necessary for precise identification in certain instances, particularly those presenting with atypical or subtle symptoms. Clinical Presentation: we report a rare clinical manifestation of APECED syndrome in a 7-year-old girl from a Moroccan origin, unique child born in a 2nd consanguineous marriage, was admitted initially for cardiac tamponade revealing the underlying disease. Patient’s assessment after pericardiocentesis confirmed hypoparathyroidism disease and undiagnosed chronic onychomycosis of the nails of her right hand. A genetic test was carried out after multidisciplinary discussion between cardiologists and endocrinologists which tested positive for a mutation in the AIRE (21q22.3) gene responsible for APECED syndrome. Treatment was based on symptomatic treatment of acute pericarditis according to the guidelines of European Society of Cardiology on the management of pericarditis with a good clinical outcome associated with oral calcium supplementation and levothyroxine. Conclusion: APECED syndrome is an exceptional disease both in terms of its frequency and its pathophysiological mechanisms and requires a multidisciplinary approach. The management of APECED syndrome involves the management of the various diseases. Patients must be monitored regularly to detect the appearance of other pathological elements of the syndrome.