Congenital Lymphatic Malformation and Aortic Aneurysm in a Patient with TSC2 Mutation

Neuropediatrics. 2020 Feb;51(1):57-61. doi: 10.1055/s-0039-1694985. Epub 2019 Sep 10.


We present a 7-year-old boy with tuberous sclerosis and congenital segmental lymphedema (CSL) of the left leg, as well as two aortic aneurysms. He was treated with everolimus (EVE) since the age of 14 months. His CSL regressed under treatment with EVE. His first aneurysms required operative intervention at age of 17 months. Four months afterward a new aortic aneurysm had been detected above the Dracon graft, but this one remained stable since that time. The patient didn't experience severe side effects. EVE has been well tolerated without disturbance of somatic growth or serious adverse effect.

Publication types

  • Case Reports

MeSH terms

  • Antineoplastic Agents / pharmacology
  • Aortic Aneurysm / etiology*
  • Child
  • Everolimus / pharmacology
  • Humans
  • Lymphedema / congenital*
  • Male
  • Tuberous Sclerosis / complications*
  • Tuberous Sclerosis / drug therapy
  • Tuberous Sclerosis / genetics*
  • Tuberous Sclerosis Complex 2 Protein / genetics*


  • Antineoplastic Agents
  • TSC2 protein, human
  • Tuberous Sclerosis Complex 2 Protein
  • Everolimus