Objective: To report a unique case of adolescent-onset autoimmune hyperthyroidism presenting with chorea and carbohydrate hyperphagia (CH).

Background: Autoimmune hyperthyroidism [Graves’ disease (GD)] can cause chorea, but is less frequently reported in adolescents; it can be subtle and may be misinterpreted as general restlessness. Patients usually have accompanying canonical clinical features of hyperthyroidism, but less discernible features of GD such as CH may not be recognized and could lead to diagnostic delay.

Method: We describe a case of an adolescent male who presented with a different symptom, who after a detailed clinical assessment had the hallmarks of GD chorea.

Results: A 14-year-old male was referred to the neurology clinic with concerns about his handwriting and concentration in class. On further probing, he confessed to tremors in his fingers for a few months. There was no other relevant past medical or family history. The neurologist (DSS) noted the patient to be subtly fidgety in the chair, which the guardian had dismissed as “being due to his hormones”. On general examination, he had normal vital signs, no goiter, but a low body mass index (BMI) of 17, which prompted a detailed nutritional history when it was revealed that he had also been eating a lot more carbohydrates but kept losing weight. Full neurological examination revealed chorea, a fine postural tremor, and a kinetic tremor on drawing the Archimedes spiral, with no other pyramidal, extrapyramidal, sensory, or cerebellar signs.

Targeted laboratory tests revealed: TSH <0.005 µIU/mL, high free T3 and T4, and positive thyrotropin receptor antibody. A Tc99m pertechnetate scan showed diffuse thyromegaly with increased trapping at 3.9%, all consistent with GD. The patient’s abnormal movements responded well to gabapentin 300mg/day, but his other symptoms and thyroid function tests were refractory to standard medical therapy (carbimazole) over several months. Eventually he required radioactive iodine therapy (RAI), which resulted in complete resolution of all his symptoms. At his last review his BMI had risen to 19.7 and his performance in class had improved.

Conclusion: Our case highlights the importance of picking unreported clues in the clinical history (CH) and examination (low BMI, chorea), as well as resolution of chorea in medically refractory GD using RAI.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/medically-refractory-graves-disease-presenting-as-chorea-and-carbohydrate-hyperphagia-in-a-kenyan-adolescent/