Deficiency of adenosine deaminase 2 (DADA2) is a rare autosomal recessive autoinflammatory disorder manifesting with variable clinical features, including systemic inflammation, vasculopathy, and recurrent ischemic or hemorrhagic strokes. Recurrent strokes have been well-established as part of the spectrum of DADA2 in keeping with the presentation of our patient. However, movement disorders in DADA2 have not been well-described. We report a case presenting with childhood-onset recurrent febrile illness, recurrent ischemic strokes, progressive generalized dystonia, intellectual disability and vasculitic rash. Neuroimaging revealed old pontine and bilateral thalamic infarcts while blood investigations revealed elevated inflammatory markers, pancytopenia and immunodeficiency. This case highlights the importance of recognizing DADA2 as a potentially treatable cause of early-onset stroke and movement disorder, emphasizing the need for timely diagnosis and targeted therapy.
Lim et al. (Wed,) studied this question.