Neuropediatrics 2022; 53(06): 432-435
DOI: 10.1055/a-1896-5817
Original Article

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

Janina Gburek-Augustat
1   Division of Neuropaediatrics, Hospital for Children and Adolescents, University Hospital Leipzig, Leipzig, Germany
,
Konrad Platzer
2   Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
,
Isabell Schumann
2   Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
,
Sven Starke
3   Department of Paediatric Oncology, Haematology and Haemostaseology, Hospital for Children and Adolescents, University Hospital Leipzig, Leipzig, Germany
,
Michael Steven Hershfield
4   Department of Medicine and Biochemistry, Duke University Medical Center, Durham, North Carolina, United States
,
Ina Sorge
5   Department of Pediatric Radiology, Hospital for Children and Adolescents, University Hospital Leipzig, Leipzig, Germany
,
Andreas Merkenschlager
1   Division of Neuropaediatrics, Hospital for Children and Adolescents, University Hospital Leipzig, Leipzig, Germany
› Author Affiliations Funding None.
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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

Supplementary Material



Publication History

Received: 07 March 2022

Accepted: 06 July 2022

Accepted Manuscript online:
11 July 2022

Article published online:
22 September 2022

© 2022. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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