Grave’s disease in a case of Goldenhar syndrome

Abstract

Goldenhar syndrome (GS) is a malformation complex that involves structures arising from the first and second branchial arches. Graves’ disease is an autoimmune disorder resulting in the excessive production of thyroid hormones and is the most common cause of hyperthyroidism in children. We are reporting this case since the clinical association of Graves’ disease in GS has never been reported before and is a rare association of the syndrome. An 11-year-old developmentally normal child presented to us with swelling in front of her neck for the past 6 months associated with loss of weight, increased appetite, increased frequency of defecation, and palpitations. On examination, there was diffuse swelling in the thyroid region that moved with deglutition and did not move with protrusion of the tongue. The child also had an asymmetrical face with bilateral conjunctival dermoid and bilateral preauricular skin tag and pretragal sinus tract on the left side. Hence, a provisional diagnosis of goitre with features of hyperthyroidism in a child with first and second branchial arch syndrome was considered. Technetium 99 scan confirmed diagnosis of Graves’ disease. The child was started on carbimazole and propranolol and gradual improvement in symptoms noted. Propranolol was given for 3 months until symptoms such as palpitations and anxiety subsided and then stopped. Carbimazole was continued.