Neonatal Graves’ disease: Eyes that spoke first

An 11-day-old male baby, born at 37 weeks to a mother with active Graves’ disease and strongly positive thyroid-stimulating hormone (TSH) receptor antibodies (TRAb), presented with feeding diaphoresis, suck–rest–suck cycle, loose stools, respiratory distress, staring look [Figure 1], and neck swelling noticed at birth. On examination, the baby had tachycardia, hepatomegaly, respiratory distress, and cardiogenic shock with high-output cardiac failure. Thyroid profile showed severe thyrotoxicosis (TSH <0.01 µIU/mL [normal range 1.2–13.1 µIU/mL]; total thyroxine [TT4] >24 µg/dL [normal range 8–21.8 µg/dL]; total triiodothyronine [TT3] 595 ng/dL [normal range 105–387 ng/dL] with elevated TRAb levels >50 IU/L [normal range <2.5 IU/L]). Echocardiography showed severe pulmonary hypertension with cardiac dysfunction. The baby was managed with continuous positive airway pressure ventilation, propranolol at 1 mg/kg/day, methimazole at 0.5 mg/kg/day, and supportive care, with significant clinical improvement within a week of initiation of therapy with biochemical improvement in TT4 and TT3 after 3 weeks (TSH: <0.01 µIU/mL [normal range 0.35–5.5 µIU/mL]; TT4: 14.06 µg/dL [normal range 3.2–12.6 µg/dL]; TT3: 3.73 ng/mL [normal range 0.87–1.78 ng/mL]). The child is being followed up every 2–4 weeks with the same dose of methimazole.

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Figure 1: 11-day old baby with neonatal Graves’ disease showing exophthalmos (staring look).

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Neonatal Graves’ disease is a rare but potentially life-threatening condition caused by transplacental transfer of maternal thyroid-stimulating immunoglobulins (TSI/TRAb) from mothers with Graves’ disease. This corresponds to 1–2% of mothers with Graves’ disease, or 1 in 50,000 newborns.^[1] It is usually transient and resolves within 3–12 weeks as maternal antibodies disappear from the infant’s circulation.^[1-3] Clinical manifestations include irritability, tachycardia, feeding difficulty, poor weight gain, diaphoresis, goiter, exophthalmos, loose stools, and respiratory distress. Severe complications may include thrombocytopenia, jaundice, hepatosplenomegaly, pulmonary hypertension, cardiogenic shock, and high-output cardiac failure. Diagnosis is established by suppressed TSH with elevated T3 and T4 levels along with positive TRAb. In infants born to mothers treated with antithyroid drugs during pregnancy, symptoms may become apparent only after 8–10 days of life once the effects of maternal medications wane.^[2,3] Close monitoring of heart rate, growth, and thyroid function is essential. Management includes propranolol, methimazole, iodine, glucocorticoids, respiratory support, and treatment of cardiac failure when indicated.^[3] The characteristic eye sign, staring look is very helpful in arriving at a diagnosis in newborn period.