Description
A 21/2-year-old boy had been diagnosed with primary hypothyroidism and was referred for persistently elevated thyroid stimulating hormone (TSH) despite regular supervised administration of a high dose of L-thyroxine (15 µg/kg/day) for preceding 3 months. His developmental milestones (sitting with support at 6 months of age) were normal initially. His parents then noticed progressive lethargy, sleepiness, poor feeding, constipation, hoarse cry and delayed milestones that prompted a medical consultation. Thyroid function tests done a week after his birth for unconjugated hyperbilirubinaemia were normal. When the test was repeated at about 1.5 years of age, TSH came out to be 76 µIU/mL.
Clinical examination revealed short stature, facial puffiness, macroglossia with dry and coarse skin and a small umbilical hernia (figure 1). Thyroid was palpable at eutopic location. A cutaneous haemangioma (12 cmx10 cm) was present over the left suprascapular area (figure 2). The parents stated that the...
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