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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… Click to show full abstract
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.
Keywords:
deaminase dada2;
brainstem stroke;
year old;
adenosine deaminase;
deficiency adenosine;
dada2
Journal Title: Neuropediatrics
Year Published: 2022
Link to full text (if available)
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Journal Title: Neuropediatrics
Year Published: 2022
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!