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.
Publication
, Journal Article
Gburek-Augustat, J; Platzer, K; Schumann, I; Starke, S; Hershfield, MS; Sorge, I; Merkenschlager, A
Published in: Neuropediatrics
December 2022
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.
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Published In
Neuropediatrics
DOI
EISSN
1439-1899
Publication Date
December 2022
Volume
53
Issue
6
Start / End Page
432 / 435
Location
Germany
Related Subject Headings
- Neurology & Neurosurgery
- Mutation
- Intercellular Signaling Peptides and Proteins
- Humans
- Female
- Child, Preschool
- Child
- Brain Stem Infarctions
- Adenosine Deaminase
- 3213 Paediatrics
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APA
Chicago
ICMJE
MLA
NLM
Gburek-Augustat, J., Platzer, K., Schumann, I., Starke, S., Hershfield, M. S., Sorge, I., & Merkenschlager, A. (2022). 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, 53(6), 432–435. https://doi.org/10.1055/a-1896-5817
Gburek-Augustat, Janina, Konrad Platzer, Isabell Schumann, Sven Starke, Michael Steven Hershfield, Ina Sorge, and Andreas Merkenschlager. “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 53, no. 6 (December 2022): 432–35. https://doi.org/10.1055/a-1896-5817.
Gburek-Augustat J, Platzer K, Schumann I, Starke S, Hershfield MS, Sorge I, et al. 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. 2022 Dec;53(6):432–5.
Gburek-Augustat, Janina, et al. “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, vol. 53, no. 6, Dec. 2022, pp. 432–35. Pubmed, doi:10.1055/a-1896-5817.
Gburek-Augustat J, Platzer K, Schumann I, Starke S, Hershfield MS, Sorge I, Merkenschlager A. 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. 2022 Dec;53(6):432–435.
Published In
Neuropediatrics
DOI
EISSN
1439-1899
Publication Date
December 2022
Volume
53
Issue
6
Start / End Page
432 / 435
Location
Germany
Related Subject Headings
- Neurology & Neurosurgery
- Mutation
- Intercellular Signaling Peptides and Proteins
- Humans
- Female
- Child, Preschool
- Child
- Brain Stem Infarctions
- Adenosine Deaminase
- 3213 Paediatrics