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Summary

Tuberous sclerosis complex (TSC) is an autosomal dominantly inherited syndrome caused by mutations in either hamartin (TSC1 gene, chromosome 9q34) or tuberin (TSC2 gene, chromosome 16p13), leading to hamartomas, tumors, and cysts of multiple organs. The extreme variability of organ involvement and phenotypic expression, manifesting over a broad age range, makes the diagnosis of tuberous sclerosis complex challenging. The clinical diagnosis of TSC is based on the presence of major and minor features; those diagnostic features involving the kidney are angiomyolipomas and cysts, both of which are often multiple and bilateral. Angiomyolipomas range from overt to microscopic to angiomyolipomatous change of the renal parenchyma. Renal disease may be the initial or only manifestation of TSC, and absence of a family history is likely, given the high incidence of new mutations.

We report a case of a newborn, affected by tuberous sclerosis complex, with a prenatally diagnosed giant cardiac rhabdomyoma associated with a large renal angiomyolipoma presenting as a duct-depending lesion not treatable by surgery. After receiving everolimus, a mammalian target of rapamycin inhibitor, we observed a rapid, significant, and durable reduction of both lesions without remarkable side effects.

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Chapter 14 - Tuberous Sclerosis Complex

Summary

Everolimus-induced near-resolution of giant cardiac rhabdomyomas and large renal angiomyolipoma in a newborn with tuberous sclerosis complex

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2 results

Chapter 14 - Tuberous Sclerosis Complex

Summary

Everolimus-induced near-resolution of giant cardiac rhabdomyomas and large renal angiomyolipoma in a newborn with tuberous sclerosis complex