A case of infantile-onset Graves

Abstract

SummaryGraves' disease is an autoimmune disorder presenting with hyperthyroidism and the disease is rare in the childhood. A two-year-old female patient was admitted to our clinic for her evident orbital puffiness. Physical examination revealed propitosis, tachycardia and a hyperpigmented spot with a diameter of 6x4 cm on the skin of the left hemithorax. Thyroid function tests were as follows: fT4: 4,00 ng/dl (N:0,8-1,9), fT3: 7,7 pg/ml (N:1,57-4,71), TSH:0,004 uIU/ml (N:0,4-5), anti-thyroglobulin: <20 IU/mL (N:0-50), anti-thyroid peroxidase: 45,7 IU/mL (N:0-50). To distinguish Graves' disease and Mc Cune Albright syndrome, TSH receptor antibody (TRAb) level and bone survey (X-ray) were evaluated. The TRAb level was 57 IU/L (N:0-9) and there was no finding consistent with fibrous dysplasia on bone X-rays. Propylthiouracil was started with a diagnosis of Graves' disease. In her clinical follow-up, propylthiouracil was switched to methimazole because of a potential risk of hepatotoxicity. TRAb titers remained high and propitosis persisted. There was no evidence of ophthalmopathy on orbital magnetic resonance imaging (MRI). In this report, we described a patient with Graves' disease who presented with proptosis because the disease and its ocular manifestations occur rarer in children compared to adults. Mc-Cune Albright syndrome was also discussed as a differential diagnosis. (Turk Arch Ped 2013; 48: 332-325)