| CASE REPORT | |
| Year : 2015 | Volume : 8 | Issue : 3 | Page : 401-403 | |
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Varied manifestations of tuberous sclerosis Correspondence Address: Source of Support: None, Conflict of Interest: None DOI: 10.4103/0975-2870.150504 |
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| Tuberous sclerosis complex (TSC) is a rare autosomal dominant disease. The prevalence of TSC is estimated to be 1 in 95,136 in general population and in those <6 years of age, it is 1 in 14,608. It is an autosomal dominant neurocutaenous disease and in about 80% of cases it is caused by a de novo mutation. The relationship between cardiac rhabdomyomas and TSC is well established. The cardiac rhabdomyomas may arise anywhere in the myocardium but are more commonly seen in the left ventricle. However, in our case an interventricular septal rhabdomyoma was seen. Angiomyolipomas (AMLs) occur in up to 80% of patients with TSC. Bilateral renal AMLs were seen in our case. There was evidence of systemic involvement in form of lymphangiomyomatosis and subependymal hamartomas. | |
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