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A 5-year-old boy was referred with a history of multiple subcutaneous nodules since infancy. He was born at 42 weeks gestation with a birth weight of 3.2 kg. At 8 months of age, he was noted to have an excessive weight gain by the health visitor and was subsequently diagnosed with primary hypothyroidism and commenced on levothyroxine 50 μg once daily. He had a normal newborn congenital hypothyroidism screen. The thyroid autoimmune antibodies were normal.
By the age of 5 years, he had delayed walking, speech and learning difficulties. Mother gave a history of surgically removed calcified lesions on her back. His weight and height at presentation were 35.5 kg (+3.8 standard deviation score (SDS)) and 121.4 cm (1.6 SDS), respectively. On examination, he had multiple subcutaneous nodules over and behind the left knee, left forearm, right ankle, chest and abdomen (figures 1 and 2). Investigations revealed a normal thyroid function on current …