Abstract
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.
Highlights
In the rest of this article, we describe both characteristic and and white matter hyperintensities (WMH) (Online Supplemental Data).[13,21] more unusual neuroradiologic features associated with interfero
CT is recommended in patients in whom interferonopathies are suspected and no calcifications are seen on MR imaging.[18]
Neuroimaging is essential in interferonopathies, in which neuroinflammation is a predominant feature, as in Aicardi-Goutières syndrome (AGS)
Summary
Common neuroimaging findings across the interferonopathies include intracerebral calcifications and T2 white matter hyperintensities (WMH) (Online Supplemental Data). IFN signaling pathway are affected (Online Supplemental neuroimaging can sometimes have normal findings, and Data).[1,3,13] For example, loss-of-function mutations in ubiquitin- the lack of neuroimaging findings, like intracranial calcifications, specific peptidase 18 (USP18), which is a negative regulator of type does not exclude an interferonopathy, certainly early on in the dis-
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