RT Journal Article
SR Electronic
T1 Widening the Neuroimaging Features of Adenosine Deaminase 2 Deficiency
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
DO 10.3174/ajnr.A7019
A1 A.F. Geraldo
A1 R. Caorsi
A1 D. Tortora
A1 C. Gandolfo
A1 R. Ammendola
A1 M. Alessio
A1 G. Conti
A1 A. Insalaco
A1 S. Pastore
A1 S. Martino
A1 I. Ceccherini
A1 S. Signa
A1 M. Gattorno
A1 A. Rossi
A1 M. Severino
YR 2021
UL http://www.ajnr.org/content/early/2021/02/25/ajnr.A7019.abstract
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