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

Neuropediatrics. 2022 Dec;53(6):432-435. doi: 10.1055/a-1896-5817. Epub 2022 Jul 11.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Adenosine Deaminase* / genetics
  • Brain Stem Infarctions*
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Intercellular Signaling Peptides and Proteins / genetics
  • Mutation

Substances

  • Adenosine Deaminase
  • Intercellular Signaling Peptides and Proteins