Management of a case of severe hypothyroidism complicated with massive recurrent pericardial efussion in Down syndrome

Abstract

Down’s syndrome is frequently associated with various endocrine dysfunctions, the most common being thyroid function disorders presented through a wide spectrum of manifestations, such as congenital and acquired hypothyroidism, especially the subclinical form, and less often hyperthyroidism. Symptoms of hypothyroidism are practically absent in subclinical forms, which requires regular screening for early detection of thyroid dysfunctions. We present of a clinical case from the Endocrinology Department of the „Timofei Moșneaga” Republican Clinical Hospital, successfully resolved following a multidisciplinary approach. The 25-year-old patient, diagnosed with Down syndrome since the age of 4, hospitalized in serious condition due to difficulty breathing, wet cough, dyspnea on moderate exertion, abdominal discomfort, acrocyanosis associated with hypotension and generalized edema. The presence of diffuse polyserositis was determined (hydropericardium with signs of cardiac tamponade, but without organic damage of the heart, bilateral pleurisy and minimal ascites), hormonal profile: TSH - 450 (0,17- 4,05 lU/ml), total T4- 30,2 (71,2-141 nmol/L). After performing two pericardiocentesis and active drainage of the pericardial cavity and initiating therapy with Levothyroxin 150 mcg and diuretics, she was discharged in a satisfactory condition with considerable changes in the hormones freeT4: 18 (12-22 pmol/l); TSH: 102 mlU/ml. This case illustrates the special challenges in establishing the correct diagnosis and therapeutic management of complications of severe hypothyroidism in patients with Down syndrome, such as myxedema and hydropericardium with cardiac tamponade. For this reason, increased vigilance in this category of patients and regular annual screening of thyroid dysfunctions will reduce the incidence of severe cases of thyroid pathology.