Publications by authors named "Vasco S Abreu"
Article Synopsis
- The study assesses the efficacy of dynamic susceptibility contrast-enhanced (DSC) MRI parameters in differentiating between primary CNS lymphoma (PCNSL), glioblastoma, and metastasis in brain tumors.
- A cohort of 39 patients was analyzed, focusing on five DSC parameters: relative cerebral blood volume (rCBV), percentage of signal recovery (PSR), and others, to evaluate their diagnostic performance.
- Results indicated that rCBV was highly effective in distinguishing metastasis and glioblastoma from PCNSL, while PSR also showed significant differences, particularly identifying metastatic tumors compared to glioblastoma.
Article Synopsis
- The eye-of-the-tiger sign is characterized by distinct changes in the globus pallidus on T2-weighted MRI, typically associated with pantothenate kinase-associated neurodegeneration (PKAN) but not exclusive to it.
- Although primarily linked to PKAN, similar MRI findings can occur in other conditions, including cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS), which is associated with a specific genetic mutation.
- This report presents two CANVAS cases that also exhibited the (pseudo-)eye-of-the-tiger sign, suggesting that this imaging characteristic may have multiple potential diagnoses.
CLCN2-related leukoencephalopathy is a rare autosomal-recessive disease caused by a loss-of-function mutation in the ClC-2 chloride channel, which is fundamental in ion and water brain homeostasis. With only 31 cases published in the literature, its precise pathophysiology is uncertain, clinical manifestations are nonspecific and little is known in terms of prognosis. Neuroimaging plays a fundamental role in the identification of CLCN2-related leukoencephalopathy, which has a typical magnetic resonance imaging pattern that, when recognized, should promote proper genetic study for diagnostic confirmation.
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