Kumar S Sakthi Selva, Palaniandavan S, Bhargavi M V, Gambeer A Selva, Nithyalakshmi G
Postgraduate, Sree Balaji Medical College and Hospitals, Chennai, Tamil Nadu.
Professor and Head of the Department,Sree Balaji Medical College and Hospitals, Chennai, Tamil Nadu.
J Assoc Physicians India. 2018 Aug;66(8):91-92.
Hashimoto's thyroiditis is a common form of chronic autoimmune thyroid disease (AITD) and it often coexists with other autoimmune diseases, but Hashimoto's thyroiditis associated with an autosomal dominant neurofibromatosis type 1 is exceedingly rare. A 30-year-old woman presented with complaints of headache for 1 year on and off. Physical examination revealed nodular swelling in the neck, cafe-au-lait spots, and neurofibromas covering the entire surface of her body. Her thyroid hormones were within normal limits. Thyroid ultrasound revealed mild altered heterogeneous echo texture, multiple nodules of varying sizes, with hyper vascularity and ultrasound-guided fine needle aspiration cytology revealed lymphocytic infiltration of the gland, suggesting Hashimoto's thyroiditis. High levels of autoimmune antibodies such as antithyroglobulin and antimicrosomal antibodies confirmed the diagnosis. When encountering a patient with Neurofibromatosis type 1, the possibility of associated autoimmune diseases should be considered. So further studies of such patients having combination of neurofibromatosis type 1 and autoimmune thyroiditis will certainly provide better understanding of this link in the near future.
桥本甲状腺炎是慢性自身免疫性甲状腺疾病（AITD）的一种常见形式，常与其他自身免疫性疾病共存，但与常染色体显性1型神经纤维瘤病相关的桥本甲状腺炎极为罕见。一名30岁女性间断性头痛1年。体格检查发现颈部结节性肿胀、咖啡斑和遍布全身的神经纤维瘤。她的甲状腺激素水平正常。甲状腺超声显示回声质地轻度不均匀改变、多个大小不等的结节，血流丰富，超声引导下细针穿刺细胞学检查显示腺体淋巴细胞浸润，提示桥本甲状腺炎。抗甲状腺球蛋白和抗微粒体抗体等高自身抗体水平确诊了该病。遇到1型神经纤维瘤病患者时，应考虑合并自身免疫性疾病的可能性。因此，对1型神经纤维瘤病与自身免疫性甲状腺炎并存的此类患者进行进一步研究，肯定会在不久的将来更好地理解这种关联。
