New inflammatory and genetic condition manifesting with recurrent strokes at young age: DADA-2

Case presentation: A 8-year-old girl, born in southeast Brazil, was taken to the neurologist by her parents investigate repeated unexplained neurological deficits. When she 4 years old, presented with livedo reticularis, abdominal pain, fever, and lower digestive hemorrhage. She extensively investigated, showing increased ESR RCP, negative tests for ANA, rheumatoid factor, ANCA, cryoglobulin, antiphospholipid antibody, serological screening infectious diseases. This event interpreted as a possible polyarteritis nodosa (PAN), treatment corticoids azathioprine prescribed. Despite of treatment, at 7 focal seizures followed left hemiparesis, dysarthria, dysphagia. Three months later, progressed right amaurosis, due ischemic neuritis optic nerve; one year tetraparesis, worse limbs. Her MRI showed midbrain, cerebral peduncles, basal ganglia, thalamic lesions different times occurrence. Besides, parenchymal microhemorrhages hemosiderin deposits middle temporal gyrus were identified. did not have any similar history among family, consanguineous. Considering complete rheumatologic investigation, inflammatory proofs persistently elevated, vasculopathy involving small medium-sized vessels, diagnosis adenosine deaminase-2 deficiency (DADA2) plausible. Enzymatic test that patient deficient plasma ADA2 activity (0.3mU/g protein; reference: 25–285mU/g protein). Immunosuppressive prescribed Adalimumab.