Presentation
Developmental delay with axial hypotonia, delayed language and motor skills. Initial metabolic workup normal. Re-evaluation after initial MRI 2 years prior.
Patient Data
Bilateral relatively symmetric scattered subcortical white matter T2-FLAIR hyperintensities which are T1 hypointense, predominantly in the frontal and parietal lobes with sparing of U-fibres and subependymal white matter (stable since last MRI roughly 2 years prior).
Two punctate T2 hyperintensities which suppress on FLAIR in the anterior pons, likely perivascular spaces.
Gyration and myelination, as well as brain morphology, are otherwise normal.
Lumbar puncture did not elucidate an aetiology for the developmental delay. Further workup with transcriptome analysis revealed elevated blood levels of type-I interferons, which, in the absence of recent infection, is suggestive of an interferonopathy. Brain CT scan was requested to search for calcifications.
Bilateral scattered punctate parenchymal calcifications predominating in the putamina and to a lesser extent in the white matter.
Case Discussion
Diagnosis of moderate Aicardi-Goutières syndrome was confirmed by paediatric neurologists after confirming a mutation in the RNaseH2B gene, involved in the interferon pathway.
Case courtesy of Dr An Lesage, MD.
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