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Título

Adenosine Deaminase 2 Deficiency Syndrome (DADA2): A Case Report of a rare autoinflammatory neurological disease

RESUMO

Clinical case: 35-year-old woman, born in southern Brazil, presented with livedo reticularis, reactive C protein (RCP) constantly elevated (30-50mg/dL), and mononeuritis multiplex. In addition, she had recurrent unexplained fever, and anemia since childhood. At 22 years old, she was hospital admitted due to a third cranial nerve impairment, probably caused by an ischemic event. She received anticoagulants for a couple of months, which were discontinued by her neurologist due to a normal cranial MRI. In her family history, she had a 5-year-old sister, who also had livedo reticularis, and died due to cerebral aneurysms, and alveolar hemorrhage. The complementary investigation showed low levels of IgM, and negative tests for ANA, rheumatoid factor, ANCA, cryoglobulin, and antiphospholipid antibody. The serological tests for infectious diseases were also negative (VDRL, HIV, hepatitis B, and C testing). The thoracic and abdominal magnetic resonance angiography discarded vessel stenosis or aneurysms. Clinical and complementary exam data were compatible with medium vessel vasculitis, suggesting a polyarteritis nodosa phenotype. She was treated with corticosteroids, methotrexate, and tocilizumab. Even under treatment, she presented with an acute ischemic stroke located in the mesencephalon. Her clinical syndrome, associated with a positive familiar history, makes the diagnosis of DADA2 plausible, and the next step would be the molecular test. Considering this hypothesis, anti-TNF drug adalimumab was prescribed, and oral anticoagulant warfarin was immediately stopped. Discussion: Adenosine deaminase-2 deficiency (DADA-2) is described as an autoimmune disease caused by mutations in the CECR1 (ADA-2) gene. Vasculopathy involving small and medium-sized vessels is one of the main clinical manifestations of DADA-2. It is one of the rare causes of stroke in young people, associated with varied systemic manifestations, such as polyarteritis nodosa (PAN), livedo reticularis, ulcerations of the extremities, arthritis, recurrent infections, and peripheral neuropathy. Immunosuppressive drugs can prevent further attacks and morbidity; on the other hand, anticoagulants and antiplatelets are not recommended. Final Comments: The reported case highlights the importance of considering DADA-2 as a differential diagnosis in patients with recurrent neurological deficits at a young age, associated with systemic manifestations, especially regarding prompt treatment.