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.
Journal
Neuropediatrics
ISSN: 1439-1899
Titre abrégé: Neuropediatrics
Pays: Germany
ID NLM: 8101187
Informations de publication
Date de publication:
12 2022
12 2022
Historique:
pubmed:
12
7
2022
medline:
11
11
2022
entrez:
11
7
2022
Statut:
ppublish
Résumé
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.
Substances chimiques
Adenosine Deaminase
EC 3.5.4.4
Intercellular Signaling Peptides and Proteins
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
432-435Informations de copyright
Thieme. All rights reserved.
Déclaration de conflit d'intérêts
None declared.