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- W4383824930 abstract "Case presentation: We describe the case of a 75-year-old female, with no past relevant comorbidities. The onset was of mental confusion and imbalance, within two weeks progressing to dysphonia, dysphagia and spastic quadriparesis. Brain MRI showed hyperintense T2/FLAIR (T2-weighted-FluidAttenuated Inversion Recovery) lesions in white matter, with cortical sparing, restricted diffusion and gadolinium enhancement. Demyelinating diseases and central nervous system lymphoma hypothesis were made. Two months later a brain biopsy was performed. Diffuse white matter vacuolar impairment was found and no inflammatory infiltrate, resembling Canavan’s disease. The patient had progressive clinical worsening, with prolonged hospitalization and poor general condition at discharge, not enduring further investigation. She deceased after 8 months of symptoms onset. Discussion: The diagnosis of acute leukoencephalopathies is challenging and neuroimaging may be helpful. Diffusion, contrast enhancement and corticosubcortical relation in magnetic resonance imaging (MRI) can present valuable clues. In this case, for example, acute disseminated encephalomyelitis was less likely due to the MRI evidencing dissemination in time. To better address malignancy, brain biopsy was mandatory. Not only cancer was excluded, but the demyelination was revealed to possibly be neurodegenerative, which was neither clinically nor radiographically evident. The vacuolar pattern found is described in Canavan disease, a rare leukoencephalopathy with onset at 1–4 months age, and mean survival of months to few years. In literature there is only another report, cataloged in our Pathology department, of a 43-yearold male with similar clinical, imaging and histological findings. This case may illustrate a not yet cataloged disease, maybe an unknown presentation of Canavan disease spectrum, adding one more differential diagnosis for acute leukoencephalopathies." @default.
- W4383824930 created "2023-07-11" @default.
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- W4383824930 date "2023-01-01" @default.
- W4383824930 modified "2023-10-15" @default.
- W4383824930 title "A new presentation or a new disease? An acute leukoencephalopathy resembling Canavan’s" @default.
- W4383824930 doi "https://doi.org/10.5327/1516-3180.141s1.581" @default.
- W4383824930 hasPublicationYear "2023" @default.
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