A Novel Mutation in TSC2 Gene: A 34-Year-Old Female with Pulmonary Lymphangioleiomyomatosis with Concomitant Hepatic Lesions. (15th February 2018)

• Record Type: Journal Article
• Authors: Nadiri, Mehdi; Raeisi, Mortaza; Mousavi Aghdas, Seyed Ali
• Other Names: Al-Saad Samer Academic Editor.
• Is Part Of: Case reports in pulmonology. Volume 2018(2018)
• Publication Date: 2018-02-15
• Subjects: Lungs -- Diseases -- Periodicals; Respiratory organs -- Diseases -- Periodicals; Respiratory infections -- Periodicals; Lung Diseases; Respiratory Tract Diseases; Respiratory Tract Infections; Lungs -- Diseases; Respiratory infections; Respiratory organs -- Diseases; Periodicals; Case Reports; Electronic journals; Periodicals; 616.2
• DOI: 10.1155/2018/5928231
• Languages: English
• ISSNs: 2090-6846

Abstract

Abstract : Tuberous sclerosis complex (TSC) is an autosomal dominant disease resulting from mutation(s) in TSC1 or TSC2 genes. TSC is associated with the formation of hamartomas in the brain, heart, eyes, skin, kidneys, and lymphangioleiomyomatosis (LAM) of the lungs. LAM is almost restricted to women in reproductive age. Different mutations in TSC1 and TSC2 genes have been reported in the literature. Here, we present a female patient with TSC-LAM with a novel mutation in TSC2 gene. The patient also had multiple hepatic angiomyolipomas, which is a relatively less-reported manifestation of the disease. The impact of this mutation on the pattern of disease presentation and response to treatment is not clear yet.