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Alexander disease is a rare form of leukodystrophy caused by heterozygous mutations in the gene encoding glial fibrillary acidic protein (GFAP). Brain cavitation in the white matter, predominantly distributed in the frontal periventricular area, has been described in some cases. Here, we present a case of a 1-year-old boy with neonatal Alexander disease caused by the p. Tyr366Cys GFAP variant, with rapid and widespread white matter cavitation. This case broadens the radiological spectrum of Alexander disease and suggests a possible genotype-phenotype correlation between the p. Tyr366Cys variant and cavitation.

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Developmental venous anomaly (DVA) is a venous malformation that is usually asymptomatic and rarely requires treatment. We report a case of a rare subtype DVA with arteriovenous shunt, presenting with headache, nausea, aphasia, and seizure in a 15-year-old girl. Contrast-enhanced magnetic resonance imaging (MRI) showed a well-defined T2 prolongation area with heterogeneous swelling mainly in the cortex and white matter of the left inferior frontal gyrus; a brain tumor was suspected. However, MRI performed 10 days later showed a slightly smaller and less swollen lesion in the left inferior frontal gyrus, cortical laminar necrosis, gyrus enhancement, cortical and subcortical hemorrhage, and an elevated apparent diffusion coefficient in the acute phase; with these findings, venous infarction was diagnosed. Finally, with angiographic findings, DVA with an arteriovenous shunt was diagnosed. The present case shows the importance of being aware of the possibility of both malignancy and venous infarction for the differential diagnosis of a mass lesion in the cerebrum. Moreover, the anticardiolipin antibody level was continuously increased, suggesting thrombophilia as a possible cause of venous infarction, in addition to abnormal venous return caused by DVA with an arteriovenous shunt.