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

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.

Keywords

DADA2 - fast-track exome sequencing - inflammation - vasculitis - brainstem - early stroke

Publikationsverlauf

Eingereicht: 07. März 2022

Angenommen: 06. Juli 2022

Accepted Manuscript online:
11. Juli 2022

Artikel online veröffentlicht:
22. September 2022

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