Title: Familial Tuberous Sclerosis with Unilateral Renal Angiomyolipoma: A Case Report from Eastern India

Authors: Ankur Ghosh, ShyamSundar Chaudhary, Soumya P. Tirkey

 DOI:  https://dx.doi.org/10.18535/jmscr/v6i8.100

Abstract

Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous genodermatosis. Sporadic cases have been reported. We report two cases of TSC in a family with unilateral renal angiomyolipoma. A 25 year male farmer and his offspring, 6 year old girl, born of non consanguineous marriage, presented with facial angiofibroma, hypomelanotic macules and unilateral renal angiomyolipoma. Computerised tomography revealed subependymal calcification on lateral ventricles in both the patients.

Keywords: Tuberous sclerosis complex, angiofibroma, angiomyolipoma, subependymal nodule

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