title: Aicardi-Goutières syndrome with systemic lupus erythematosus and hypothyroidism.
abstract: 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.
authors.affiliation: Department of Pediatrics, Iwate Medical University School of Medicine, 19-1 Uchimaru, Morioka 020-8505, Japan. iz4a-kmi@asahi-net.or.jp
authors.forename: Atsushi
authors.initials: A
authors.lastname: Kamei
authors.forename: Manami
authors.initials: M
authors.lastname: Akasaka
authors.forename: Nami
authors.initials: N
authors.lastname: Soga
authors.forename: Yu
authors.initials: Y
authors.lastname: Suzuki
authors.forename: Mare
authors.initials: M
authors.lastname: Uchide
authors.forename: Shoichi
authors.initials: S
authors.lastname: Chida
mesh_terms: D020274:Autoimmune Diseases of the Nervous System / Q000150:complications*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007037:Hypothyroidism / Q000150:complications*; D008180:Lupus Erythematosus, Systemic / Q000150:complications*; D009421:Nervous System Malformations / Q000150:complications*