1.
Neuropediatrics
; 53(6): 432-435, 2022 12.
Artículo
en Inglés
| MEDLINE
| ID: mdl-35817355
RESUMEN
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.