Neurofibromatosis Type 1 Associated with Hashimoto's Thyroiditis: Coincidence or Possible Link.

摘要: Introduction. Hashimoto's thyroiditis is a common form of chronic autoimmune thyroid disease (AITD) and often coexists with other diseases, but associated an autosomal dominant neurofibromatosis type 1 exceedingly rare. Case Presentation. A 30-year-old Bengali woman presented to the OPD complaints aching pain tingling sensation in her hands feet. Physical examination revealed dysmorphic facies, nodular swelling neck, cafe-au-lait spots, neurofibromas covering entire surface body. Her hormones were within normal limits. Thyroid ultrasound cystic area left lobe gland, ultrasound-guided fine needle aspiration cytology lymphocytic infiltration suggesting thyroiditis. High levels antibodies such as antithyroglobulin antimicrosomal confirmed diagnosis. Conclusion. When encountered patient Neurofibromatosis 1, physician should be careful about possibility concomitant disease. Clinical presentation Noonan syndrome overlaps recent studies have implicated mutation NF1 gene etiology NFNS. More extensive reports further investigations patients having combination will certainly provide better understanding this link near future.