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Case Reports
Journal Article
Aicardi-Goutières syndrome with systemic lupus erythematosus and hypothyroidism.
Brain & Development 2013 January
We report a case of Aicardi-Goutières syndrome with systemic lupus erythematosus and hypothyroidism. A 3-year-old girl, diagnosed with Aicardi-Goutières syndrome at 9 months, was transferred to our hospital for fever of unknown origin. Severe spasticity with dystonic posturing and flexion contracture of the limbs were noted. Interstitial pneumonia with pleural effusion was evident. Immunological investigations revealed positive antinuclear antibodies and reduced thyroid function. Prompt treatment with steroids, cyclophosphamide, and levothyroxine sodium hydrate elicited a good response. It is necessary to emphasize that its possible relationship between Aicardi-Goutières syndrome and systemic lupus erythematosus and/or hypothyroidism.
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