PT - JOURNAL ARTICLE AU - A.F. Geraldo AU - R. Caorsi AU - D. Tortora AU - C. Gandolfo AU - R. Ammendola AU - M. Alessio AU - G. Conti AU - A. Insalaco AU - S. Pastore AU - S. Martino AU - I. Ceccherini AU - S. Signa AU - M. Gattorno AU - A. Rossi AU - M. Severino 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