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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: RNASET2-deficient leukoencephalopathy mimicking congenital CMV infection and Aicardi-Goutieres syndrome: a case report with a novel pathogenic variant

Fig. 1

Brain CT-scan at the level of basal ganglia reveals bilateral mildly low attenuated frontal deep white matter with tiny calcified foci in the basal ganglia, most probably along lenticulostriate branches. Persistent cavum septum pellucidum is seen (white arrow) (a). Brain MRI, axial and coronal SE T2-WI and axial FLAIR sequence, illustrates diffuse brain volume loss with secondary ex vacuo type ventriculomegaly. Diffuse abnormal white matter signal, high in T2 WI an FLAIR which is more marked in frontal and temporal lobes is noticeable (bd). Left anterior temporal lobe and bilateral frontal lobes cystic changes at the white matter could be seen furthermore in FLAIR sequence (black arrow) (e, f). Brain MRI, axial SE T2-WI at the level of centrum semiovale shows diffuse abnormal high signal white matter (g). Brain MRI, axial SE T2-WI and FLAIR sequence, at the level of lower temporal lobes reveals diffuse abnormal high signal white matter in T2-WI with bilateral subcortical anterior temporal cysts confirmed in FLAIR sequence (h, i). Brain MRI, axial SE T1-WI at the level of septum pellucidum demonstrates bilateral abnormal faint low attenuated deep white matter at frontal lobes. Persistent cavum septum pellucidum and vergae are additional findings (j)

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