Tuberous sclerosis complex and polycystic kidney disease contiguous gene syndrome with Moyamoya disease

Pathol Res Pract. 2017 Apr;213(4):410-415. doi: 10.1016/j.prp.2016.12.027. Epub 2017 Jan 3.

Abstract

Tuberous sclerosis complex (TSC) and autosomal dominant polycystic kidney disease (ADPKD) are two diseases sharing close genetic loci on chromosome 16. Due to contiguous gene syndrome, also known as contiguous gene deletion syndrome, the proximity of TSC2 and PKD1 genes increases the risk of co-deletion resulting in a shared clinical presentation. Furthermore, Moyamoya disease (MMD) is a rare vaso-occlusive disease in the circle of Willis. We present the first case of TSC2/PKD1 contiguous gene syndrome in a patient with MMD along with detailed histopathologic, radiologic, and cytogenetic analyses. We also highlight the clinical presentation and surgical complications in this case.

Keywords: Contiguous gene syndrome; Moyamoya disease; Polycystic kidney disease; Tuberous sclerosis complex.

Publication types

  • Case Reports

MeSH terms

  • Humans
  • Kidney / pathology
  • Male
  • Moyamoya Disease / complications*
  • Moyamoya Disease / pathology*
  • Polycystic Kidney, Autosomal Recessive / complications*
  • Polycystic Kidney, Autosomal Recessive / pathology*
  • Tuberous Sclerosis / complications*
  • Tuberous Sclerosis / pathology*
  • Young Adult

Supplementary concepts

  • Polycystic kidneys, severe infantile with tuberous sclerosis