Abstract

Abstract Background Congenital goiter constitutes a rare cause of congenital neck masses. Goitrous enlargement can be associated with serious airway obstruction. Case description We report a term, girl baby with a large asymmetrical neck mass who presented on day 2 of life. Clinical examination revealed stridor and local examination showed an asymmetric nodular firm swelling with no signs of inflammation. The computerized tomography of the neck and fine needle aspiration cytology (FNAC) confirmed the swelling as being a multinodular goiter. The thyroid function test (TFT) was suggestive of hypothyroid status. Further investigations revealed the cause as being dyshormonogenesis probably secondary to a thyroglobulin synthetic defect. The baby was started on levothroxine supplementation (13 μg/kg/day); neck swelling markedly reduced with normalization of TFT over the next 3 weeks. To the best of our knowledge this is the first reported case of the presence of multinodularity in a baby with congenital goiter.

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