A Tuberous Sclerosis Family with TSC1 (c.1030-1G>A) Mutation Found through a Female Presenting as Multiple Ground Glass Nodules in Chest Computed Tomography Incidentally

نویسندگان

  • Ting-Ting Zhao
  • Yong-Sheng Wang
  • Yan Li
  • Miao Ma
  • Ai-Mei Li
  • Hou-Rong Cai
  • Xiang-Shan Fan
  • Fan-Qing Meng
  • Li-Yun Miao
چکیده

Chest computed tomography (CT) screening is becoming more popular in China. Therefore, more and more rare diseases and early stages of lung diseases were found. Here, we reported a case who presented as multiple ground glass nodules incidentally found in chest CT scan who had been suspected as synchronous multiple primary lung cancer (SMPLC) and/or metastatic cancer. She was finally diagnosed as tuberous sclerosis complex (TSC), an autosomal‐dominant disorder characterized by the formation of hamartomatous lesions in the skin, eyes, kidney, and central nervous system.[1,2] Tuberous sclerosis complex 1 (TSC1) gene mutation (c.1030‐1G>A) was found in her and her family members. This is a very rare report in China.

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عنوان ژورنال:

دوره 130  شماره 

صفحات  -

تاریخ انتشار 2017