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; Konrad Platzer; Isabell Schumann; Sven Starke; Michael Steven Hershfield; Ina Sorge; Andreas Merkenschlager

doi:10.1055/a-1896-5817

Neuropediatrics, Table of Contents

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

¹Division of Neuropaediatrics, Hospital for Children and Adolescents, University Hospital Leipzig, Leipzig, Germany

,

Konrad Platzer

²Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

,

Isabell Schumann

²Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

,

Sven Starke

³Department of Paediatric Oncology, Haematology and Haemostaseology, Hospital for Children and Adolescents, University Hospital Leipzig, Leipzig, Germany

,

Michael Steven Hershfield

⁴Department of Medicine and Biochemistry, Duke University Medical Center, Durham, North Carolina, United States

,

Ina Sorge

⁵Department of Pediatric Radiology, Hospital for Children and Adolescents, University Hospital Leipzig, Leipzig, Germany

,

Andreas Merkenschlager

¹Division of Neuropaediatrics, Hospital for Children and Adolescents, University Hospital Leipzig, Leipzig, Germany

› Author Affiliations

Abstract

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

Full Text

References

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Supplementary Material

Supplementary Material