Neurological phenotype of ADA2 deficient patients: a cohort study.
Merelijne A VerschoofLaura C C van MeenenM Valérie E AndriessenDaniëlle M C BrinkmanSylvia KamphuisTaco W KuijpersHelen L LeavisG Elizabeth LeggerCatharina M Mulders-MandersAnne P J de PagterAbraham RutgersGijs T J van WellJonathan M CoutinhoA Elisabeth HakJoris M van MontfransFemke C C KlouwerPublished in: European journal of neurology (2023)
Neurological manifestations, especially TIA/ischemic stroke, are common in patients with ADA2 deficiency and frequently are the presenting symptom. Because it is a treatable cause of young stroke, for which antiplatelet and anticoagulant therapy are considered contraindicated, awareness among neurologists and pediatricians is important. Screening for ADA2 deficiency in young patients with small-vessel ischemic stroke without an identified cause should be considered.