As the neurointervention field grows, a new side effect emerges. Delayed leukoencephalopathy (DL) is believed to be an inflammatory or allergic reaction to polymer material that is shed from catheters during endovascular procedures. We present four cases of DL after aneurysm treatment in two patients, endovascular stroke treatment and diagnostic arteriography. We present our diagnostic process, including biopsy results in two patients, our anti-inflammatory treatment and outcomes together with a review of the literature. In our series, prognosis was variable with ongoing seizures in two patients. Our literature review reveals that asymptomatic shedding of polymer material is common, occurring in a third of endovascular stroke procedures, whereas symptomatic DL occurs in <0.5% of therapeutic neuroendovascular procedures. Clinicians should be aware of this rare complication, and oral glucocorticoids seem to be a reasonable first-line treatment strategy.
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http://dx.doi.org/10.1177/19714009211029172 | DOI Listing |
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Department of Neurology, the Affiliated Children's Hospital of Xiangya School of Medicine, Central South University (Hunan Children's Hospital), Changsha, Hunan 410007, China.
Objective: To explore the clinical manifestations and genetic characteristics of a child with Leukoencephalopathy with ataxia (LKPAT) caused by a CLCN2 gene variant.
Methods: A retrospective analysis was conducted on the clinical data of a child admitted to Hunan Children's Hospital in June 2024 due to "intermittent convulsions for 13 days". Peripheral blood samples were collected from the child and his parents for whole exome sequencing, followed by Sanger sequencing validation and pathogenicity analysis of candidate variants.
Genes (Basel)
November 2024
Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.
(1) Background: Most rare disease patients endure long delays in obtaining a correct diagnosis, the so-called "diagnostic odyssey", due to a combination of the rarity of their disorder and the lack of awareness of rare diseases among both primary care professionals and specialists. Next-generation sequencing (NGS) techniques that target genes underlying diverse phenotypic traits or groups of diseases are helping reduce these delays; (2) Methods: We used a combination of biochemical (thin-layer chromatography and high-performance liquid chromatography-tandem mass spectrometry), NGS (resequencing gene panels) and splicing assays to achieve a complete diagnosis of three patients with suspected metachromatic leukodystrophy, a neurologic lysosomal disorder; (3) Results: Affected individuals in each family were homozygotes for harmful variants in the gene, one of them novel (c.854+1dup, in family 1) and the other already described (c.
View Article and Find Full Text PDFCureus
December 2024
Department of General Medicine, Vydehi Institute of Medical Sciences and Research Centre, Bangalore, IND.
Background: The defining characteristic of posterior reversible encephalopathy syndrome (PRES) is a reversible, predominantly vasogenic edema of the white matter, particularly affecting the parenchyma supplied by the posterior circulation. PRES is most commonly associated with hypertension. We present a case series of seven normotensive patients diagnosed with cancer who had posterior reversible encephalopathy syndrome.
View Article and Find Full Text PDFFront Immunol
December 2024
Laboratory of Cellular and Molecular Immunology, Institute of Microbiology of the Czech Academy of Sciences, Prague, Czechia.
The gut microbiota influences the reactivity of the immune system, and has emerged as an anti-inflammatory commensal. Here, we investigated whether its lysate could prevent severe forms of neuroinflammation in experimental autoimmune encephalomyelitis (EAE) in mice and how this preventive strategy affects the gut microbiota and immune response. Lysate of anaerobically cultured (Pd lysate) was orally administered to C57BL/6 mice in four weekly doses.
View Article and Find Full Text PDFRadiol 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.
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