Neuropediatrics
DOI: 10.1055/a-1896-5817
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)
› Author Affiliations PDF Download Buy Article Permissions and ReprintsDeficiency 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 HistoryReceived: 07 March 2022
Accepted after revision: 06 July 2022
Accepted Manuscript online:
11 July 2022
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