Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Leukoencephalopathy with macrocephaly and mild clinical course.

Elzbieta Marszał1, Ewa Jamroz, Justyna Paprocka

  • 1Klinika Pediatrii i Neurologii Wieku Rozwojowego, Slaska Akademia Medyczna, Katowice.

Neurologia I Neurochirurgia Polska
|March 30, 2004
PubMed
Summary

Magnetic resonance imaging aids in identifying genetic leukodystrophies like van der Knaap syndrome. This study details three new cases of megalencephalic leukoencephalopathy with subcortical cysts, confirming diagnostic criteria.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Artificial intelligence-enabled integration of real-world clinical data to support clinical research: Operational design of the Regional Digital Medicine Center CMC SILESIA.

Kardiologia polska·2026
Same author

Metabolomic properties of the fluid from the surgical ligation after breast-conserving therapy and intraoperative radiotherapy.

Scientific reports·2026
Same author

Electroencephalographic abnormalities and clinical phenotypes in children with autism spectrum disorder: a single center cohort study.

Frontiers in neurology·2026
Same author

Using Artificial Intelligence to Enhance Evidence Search and Synthesis.

The American journal of nursing·2026
Same author

Revised recommendations of the Polish Medical Society of Radiology and the Polish Neurological Society for a protocol concerning routinely used magnetic resonance imaging in patients with multiple sclerosis.

Neurologia i neurochirurgia polska·2026
Same author

Artificial Intelligence and Machine Learning in Pediatric Epilepsy: A Systematic Review.

Neurology and therapy·2026

Area of Science:

  • Neurology
  • Medical Genetics
  • Radiology

Background:

  • Leukodystrophies are a group of genetic disorders affecting white matter.
  • Non-specific leukodystrophies, such as megalencephalic leukoencephalopathy with subcortical cysts (MLC), present diagnostic challenges.

Observation:

  • The study focuses on magnetic resonance (MR) patterns for identifying genetic leukodystrophies.
  • Three new cases of vacuolating leukoencephalopathy with megalencephaly were observed and analyzed.

Findings:

  • MR imaging patterns are crucial for diagnosing van der Knaap syndrome (MLC).
  • The presented patients met established clinical and neuroimaging criteria for van der Knaap syndrome.

Implications:

  • Enhanced understanding of MR characteristics aids in early and accurate diagnosis of MLC.

Related Experiment Videos

  • This research contributes to the diagnostic framework for rare genetic white matter disorders.