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.
Highlights
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
Variety of mutations in TSC1 and TSC2 genes have been mentioned in the literature [3, 4]
Summary
A Novel Mutation in TSC2 Gene: A 34-Year-Old Female with Pulmonary Lymphangioleiomyomatosis with Concomitant Hepatic Lesions. We present a female patient with TSC-LAM with a novel mutation in TSC2 gene. The patient 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. Considering the history of TB exposure and her resistant dyspnea, a high-resolution computerized tomography (HRCT) of the chest was recommended; as a result, diffuse atelectasis of bronchioles in both lungs was seen along with multiple thin-walled cystic lesions distributed in all pulmonary zones (Figure 3). In abdominal cuts of a chest CT some very suspicious lesions were seen in the liver and kidneys, which had the Hounsfield values of the
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