Year : 2015  |  Volume : 8  |  Issue : 3  |  Page : 401-403

Varied manifestations of tuberous sclerosis

1 Department of Medicine, University College of Medical Sciences, New Delhi, India
2 Department of Radio-Diagnosis, University College of Medical Sciences, New Delhi, India

Correspondence Address:
Nikhil Gupta
C-158 Pushpanjali Enclave, Pitampura, New Delhi - 110 034
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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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