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| http://dx.doi.org/10.4103/1817-1745.111438 | DOI Listing |
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Hyperintense lesions of the middle cerebellar peduncle and beyond: a pictorial essay.
Radiol Bras
January 2025
Faculdade de Ciências Médicas da Universidade Estadual de Campinas (FCM-Unicamp), Campinas, SP, Brazil.
The middle cerebellar peduncle (MCP) is the largest afferent system of the cerebellum and consists of fibres from the cortico-ponto-cerebellar tract. Specifically, several relevant diseases can present with hyperintensity in the MCP on T2-weighted/fluid-attenuated inversion recovery (T2/FLAIR) magnetic resonance imaging sequences, including multiple sclerosis; acute disseminated encephalomyelitis; neuromyelitis optica spectrum disorder; progressive multifocal leucoencephalopathy; hepatic encephalopathy; osmotic demyelination syndrome; multiple system atrophy; fragile X-associated tremor/ataxia syndrome; megalencephalic leucoencephalopathy with subcortical cysts; spinocerebellar ataxias; hemi-pontine infarct with trans-axonal degeneration; and diffuse midline glioma with the histone H3K27M mutation. The aim of this pictorial review is to discuss the imaging findings that are relevant for the differential diagnosis of diseases presenting with MCP hyperintensity on T2/FLAIR sequences.
View Article and Find Full Text PDFBackground: Megalencephalic leukoencephalopathy with subcortical cysts (MLC), a rare and progressive neurodegenerative disorder involving the white matter, is not adequately recapitulated by current disease models. Somatic cell reprogramming, along with advancements in genome engineering, may allow the establishment of human models of MLC for disease modeling and drug screening. In this study, we utilized cellular reprogramming and gene-editing techniques to develop induced pluripotent stem cell (iPSC) models of MLC to recapitulate the cellular context of the classical MLC-impacted nervous system.
View Article and Find Full Text PDFImaging in atypical van der knaap disease with subependymal nodular heterotopia: A case report.
Radiol Case Rep
February 2025
Junior Resident, Department of Radiodiagnosis, Kempegowda Institute of Medical Sciences Hospital and Research Centre, Rajiv Gandhi University of Health Sciences, Bangalore, 560004, Karnataka, India.
Here, we discuss a rare and to our knowledge, the first case of an atypical Van der Knaap's disease in a 6-year-old boy who presented with motor difficulties, developmental delay, cognitive impairment, seizures. The objective of this report is to highlight its unusual findings on MRI including internal capsule, brainstem, cerebellum involvement; subependymal nodular heterotopia, subependymal cysts, cortical laminar necrosis along with typical findings of megalencephalic leukoencephalopathy and subcortical cysts. The study also underscores the clinical implications of this complex pathology, with emphasis on comprehensive neuroradiological evaluation for atypical presentations to guide better diagnostic and management outcomes.
View Article and Find Full Text PDFMovement disorders in Megalencephalic Leukoencephalopathy with subcortical cysts - A case series.
Parkinsonism Relat Disord
November 2024
Movement Disorder Centre, Institute of Neurosciences Kolkata, 185, Acharya Jagadish Chandra Bose Rd, Elgin, Kolkata, West Bengal, 700017, India. Electronic address:
Background: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) has been described in the literature mostly as early-onset leukodystrophy with cerebellar ataxia being the main clinical phenotype. However, other associated movement disorders have also been reported discretely.
Cases: Here, we present seven cases of MLC.
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