Background: In infants under 3 years of age acquired primary hypothyroidism caused by autoimmune thyroiditis is very rare. Hypothyroidism can manifest with different signs and symptoms and has a wide range of presentations from subclinical hypothyroidism to overt form.
Objective and hypotheses: We describe a child with an unusual hypothyroidism presentation characterized by multi-organ involvement and related to acquired autoimmune thyroiditis during a very early period of life.
Method: A 22-month-old white male patient with normal neonatal screening presented with a 6-month history of asthenia and cutaneous pallor. At general clinical and biochemical exams he showed weight gain, statural growth deceleration, poor movements, sleepy expression, instability while walking, myxoedema, bradycardia, open anterior fontanelle, changes in the face habitus, macrocytic anaemia, ascites, and high CPK, creatinine and cholesterol levels.
Results: TSH, free thyroxine (fT4), free triiodothyronin (fT3) were >200 μIU/ml, 1.39 and 0.5 pg/ml, respectively. The levels of thyroid peroxidase antibodies and thyroglobulin antibodies were high (2017 and 1743 IU/l, respectively); sonographic thyroidal evaluation demonstrated normal anatomy with non-homogeneous echotexture. Because the neonatal screening for congenital hypothyroidism was normal, a diagnosis of hypothyroidism related to autoimmune thyroiditis was determined. The thyroxin replacement therapy normalized all the clinical and biochemical abnormalities.
Conclusion: Our case could give useful learning points: i) hypothyroidism can have a misleading and multi-face clinical presentation; ii) anemia, rhabdomyolysis and high creatinine levels should always include the hypothyroidism in the differential diagnosis; iii) thyroxine replacement therapy is able to revert all the clinical manifestations related to the hypothyroidism; iv) evaluating the patients previous pictures could play an important role in resolving a diagnostic conundrum.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology