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
DOI: 10.1055/a-1896-5817

DADA2 as a cause of brainstem stroke in a 3-year-old girl

Janina Gburek-Augustat

1   Division of Neuropediatrics, Leipzig University Hospital for Children and Adolescents, Leipzig, Germany (Ringgold ID: RIN70623)

,

K. Platzer

2   Institute of Human Genetics, University of Leipzig Faculty of Medicine, Leipzig, Germany (Ringgold ID: RIN70622)

,

Isabell Schumann

2   Institute of Human Genetics, University of Leipzig Faculty of Medicine, Leipzig, Germany (Ringgold ID: RIN70622)

,

Sven Starke

3   Department of Paediatric Oncology, Haematology and Haemostaseology, Leipzig University Hospital for Children and Adolescents, Leipzig, Germany (Ringgold ID: RIN70623)

,

Michael Steve Hershfield

4   Department of Medicine and Biochemistry, Duke University Medical Center, Durham, United States (Ringgold ID: RIN609772)

,

Ina Sorge

5   Department of Pediatric Radiology, University Hospital Leipzig, Leipzig, Germany (Ringgold ID: RIN39066)

,

Andreas Merkenschlager

6   Division of Neuropaediatrics, Leipzig University Hospital for Children and Adolescents, Leipzig, Germany (Ringgold ID: RIN70623)

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Deficiency of adenosine deaminase 2 (DADA2) is a rare mendelian, autoinflammatory multi-organ disease. We report the case of a 3 8/12 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 History

Received: 07 March 2022

Accepted after revision: 06 July 2022

Accepted Manuscript online:
11 July 2022

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