Case Report: Deficiency of Adenosine Deaminase 2 (DADA2) as a Cause of Brainstem Stroke in a 3-Year-Old Girl and the Importance of Early Fast-Track Genetic Diagnostics to Influence Therapy.

Journal Article (Journal Article)

Deficiency of adenosine deaminase 2 (DADA2) is a rare Mendelian, autoinflammatory multiorgan disease. We report the case of a 3.8-year-old female patient who was admitted with an acute brainstem stroke and was diagnosed with DADA2 by early initiation of exome sequencing. We recommend that DADA2 and a genetic workup should be taken into account, when evaluating strokes in children even if no other than neurological symptoms are evident.

Full Text

Duke Authors

Cited Authors

  • Gburek-Augustat, J; Platzer, K; Schumann, I; Starke, S; Hershfield, MS; Sorge, I; Merkenschlager, A

Published Date

  • December 2022

Published In

Volume / Issue

  • 53 / 6

Start / End Page

  • 432 - 435

PubMed ID

  • 35817355

Electronic International Standard Serial Number (EISSN)

  • 1439-1899

Digital Object Identifier (DOI)

  • 10.1055/a-1896-5817


  • eng

Conference Location

  • Germany