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PT  - JOURNAL ARTICLE
AU  - Geraldo, A.F.
AU  - Caorsi, R.
AU  - Tortora, D.
AU  - Gandolfo, C.
AU  - Ammendola, R.
AU  - Alessio, M.
AU  - Conti, G.
AU  - Insalaco, A.
AU  - Pastore, S.
AU  - Martino, S.
AU  - Ceccherini, I.
AU  - Signa, S.
AU  - Gattorno, M.
AU  - Rossi, A.
AU  - Severino, M.
TI  - Widening the Neuroimaging Features of Adenosine Deaminase 2 Deficiency
AID  - 10.3174/ajnr.A7019
DP  - 2021 May 01
TA  - American Journal of Neuroradiology
PG  - 975--979
VI  - 42
IP  - 5
4099  - http://www.ajnr.org/content/42/5/975.short
4100  - http://www.ajnr.org/content/42/5/975.full
SO  - Am. J. Neuroradiol.2021 May 01; 42
AB  - SUMMARY: Adenosine deaminase 2 deficiency (OMIM #615688) is an autosomal recessive disorder characterized by a wide clinical spectrum, including small- and medium-sized vessel vasculopathies, but data focusing on the associated neuroimaging features are still scarce in the literature. Here, we describe the clinical neuroimaging features of 12 patients with genetically proven adenosine deaminase 2 deficiency (6 males; median age at disease onset, 1.3 years; median age at genetic diagnosis, 15.5 years). Our findings expand the neuroimaging phenotype of this condition demonstrating, in addition to multiple, recurrent brain lacunar ischemic and/or hemorrhagic strokes, spinal infarcts, and intracranial aneurysms, also cerebral microbleeds and a peculiar, likely inflammatory, perivascular tissue in the basal and peripontine cisterns. Together with early clinical onset, positive family history, inflammatory flares and systemic abnormalities, these findings should raise the suspicion of adenosine deaminase 2 deficiency, thus prompting genetic evaluation and institution of tumor necrosis factor inhibitors, with a potential great impact on neurologic outcome.DADA2adenosine deaminase 2 deficiencyTNFtumor necrosis factorPANpolyarteritis nodosaPRESposterior reversible encephalopathy syndrome