RT Journal Article
SR Electronic
T1 Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 2
OP 10
DO 10.3174/ajnr.A7362
VO 43
IS 1
A1 Benjamin, P.
A1 Sudhakar, S.
A1 D’Arco, F.
A1 Löbel, U.
A1 Carney, O.
A1 Roux, C.-J.
A1 Boddaert, N.
A1 Hemingway, C.
A1 Eleftheriou, D.
A1 Mankad, K.
YR 2022
UL http://www.ajnr.org/content/43/1/2.abstract
AB SUMMARY: The genetic interferonopathies are a heterogeneous group of disorders thought to be caused by the dysregulated expression of interferons and are now commonly considered in the differential diagnosis of children presenting with recurrent or persistent inflammatory phenotypes. With emerging therapeutic options, recognition of these disorders is increasingly important, and neuroimaging plays a vital role. In this article, we discuss the wide spectrum of neuroradiologic features associated with monogenic interferonopathies by reviewing the literature and illustrate these with cases from our institutions. These cases include intracerebral calcifications, white matter T2 hyperintensities, deep WM cysts, cerebral atrophy, large cerebral artery disease, bilateral striatal necrosis, and masslike lesions. A better understanding of the breadth of the neuroimaging phenotypes in conjunction with clinical and laboratory findings will enable earlier diagnosis and direct therapeutic strategies.AGSAicardi-Goutières syndromeICCintracranial calcificationsIFNinterferonSLEsystemic lupus erythematosusSAVISTING-associated vasculopathy of infancyWMHwhite matter hyperintensities