Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1136/practneurol-2014-001040 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Unusual Causes of Death Due to Constipation.
Am J Forensic Med Pathol
December 2024
Forensic Pathology Unit, Royal Darwin Hospital, Darwin, Northern Territory and College of Medicine and Public Health, Flinders University, Adelaide, South Australia, Australia.
Constipation is found in individuals with intellectual disabilities, autism, and cerebral palsy. Although generally a benign condition, it may lead to life-threatening intestinal obstruction, with or without volvulus, or to stercoral ulceration with enteritis and/or perforation. Two unusual cases of lethal chronic constipation are reported to demonstrate other very rare fatal mechanisms that may occur.
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 PDFGut Instincts: Unusual Suspects in Seizure Worsening.
Epilepsy Curr
December 2024
Department of Pharmaceutics, University of Washington-Seattle.
Vanishing White Matter Disease in Children: An Unusual Association, a Novel Mutation, and a Literature Review.
Cureus
November 2024
Department of Pediatrics, Salmaniya Medical Complex, Manama, BHR.
Vanishing white matter (VWM) disease is an autosomal recessive disorder caused by mutations in the gene EIF2B encoding the subunits 1-5 of eukaryotic initiation factor 2B. Although rare, with a reported prevalence of 1:80,000 (0.001%), it was considered as one of the most common leukodystrophies.
View Article and Find Full Text PDFDiffuse Glioneuronal Tumor With Oligodendroglioma-Like Features and Nuclear Clusters Relapse in a Seven-Year-Old Boy: An Unusual Case Exhibiting Near-Tetraploidy and Chromosome 14 Diploidy.
Cureus
November 2024
Hematology and Oncology, CHRISTUS Children's, Baylor College of Medicine, San Antonio, USA.
Diffuse glioneuronal tumor with oligodendroglioma-like features and nuclear clusters (DGONC) is a rare brain tumor of the central nervous system (CNS). Although only a few cases of DGONC have been reported following the initial description of the tumor, they have a distinct DNA methylation pattern and share a recurrent chromosomal finding of monosomy 14. We encountered a seven-year-old boy who presented with seizures and was found to have a left frontal and suprasellar mass.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!