# Tuberous sclerosis presenting along with autosomal dominant polycystic kidney disease (ADPKD): A rare presentation

## TL;DR

A rare case of a 19-year-old man with both tuberous sclerosis and autosomal dominant polycystic kidney disease is presented.

## Contribution

The paper reports a rare co-occurrence of TSC and ADPKD due to a deletion involving PKD-1 and TSC-2 genes.

## Key findings

- A patient presented with hematuria, sub-ependymal nodules, and multiple renal cysts.
- The case suggests a contiguous gene deletion syndrome involving PKD-1 and TSC-2 on chromosome 16.

## Abstract

Tuberous sclerosis complex (TSC) and autosomal dominant polycystic kidney disease (ADPKD) are two different genetic diseases.
Although these two diseases are associated very rarely, the association is well recognized. This occurs due to a large deletion
involving both PKD-1 and TSC-2 genes on chromosome 16. This is also known as TSC-2/PKD-1 contiguous gene syndrome. We present a case of
a 19-year-old male, presenting with hematuria and tuberous sclerosis phenotype whose USG abdomen and CT scan of head and abdomen revealed
bilateral multiple renal cysts and sub-ependymal nodules suggestive of having Tuberous sclerosis along with ADPKD.