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

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 synch...

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Veröffentlicht in:中华医学杂志:英文版 2017, Vol.130 (20), p.2510-2512
Hauptverfasser: 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
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Sprache:eng
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Zusammenfassung: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 fort-nation of hanaartomatous lesions in the skin, eyes, kidney, and central nervous system. 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.
ISSN:0366-6999
2542-5641