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

Recurrent seizures in metachromatic leukodystrophy

T Balslev1, M A Cortez, S I Blaser

  • 1Division of Neurology, The Hospital for Sick Children, University of Toronto, Ontario, Canada.

Pediatric Neurology
|November 21, 1997
PubMed
Summary

Recurrent seizures are common in metachromatic leukodystrophy (MLD), affecting nearly half of patients within two years. Juvenile onset MLD shows a higher prevalence of complex partial seizures.

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

How isolation of key information and allowing clarifying questions may improve information quality and diagnostic accuracy at case handover in paediatrics.

Advances in health sciences education : theory and practice·2020
Same author

Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in α-Dystroglycan-Related Muscular Disorders.

AJNR. American journal of neuroradiology·2020
Same author

Absence Seizures as a Feature of Juvenile Myoclonic Epilepsy in Rhodesian Ridgeback Dogs.

Journal of veterinary internal medicine·2017
Same author

Diagnostic Utility of Wireless Video-Electroencephalography in Unsedated Dogs.

Journal of veterinary internal medicine·2017
Same author

Systemic availability of guanidinoacetate affects GABAA receptor function and seizure threshold in GAMT deficient mice.

Amino acids·2016
Same author

HINCUTs in cancer: hypoxia-induced noncoding ultraconserved transcripts.

Cell death and differentiation·2013

Area of Science:

  • Neurology
  • Genetics
  • Pediatric Neurology

Background:

  • Metachromatic leukodystrophy (MLD) is a rare genetic disorder affecting the central nervous system.
  • Seizures are a known complication, but their prevalence and specific types in early MLD are not well-characterized.

Observation:

  • A retrospective study analyzed 18 patients with MLD, focusing on seizure development within the first two years of symptom onset.
  • Recurrent seizures were observed in 29% of patients within 12 months and 46% within 24 months.

Findings:

  • Seven patients developed recurrent seizures, with a higher incidence in juvenile-onset MLD.
  • Complex partial seizures were more common in juvenile-onset MLD, while generalized seizures predominated in late infantile-onset MLD.

Related Experiment Videos

Implications:

  • Recurrent seizures are a significant clinical feature of MLD, occurring across different disease stages.
  • Understanding seizure patterns can aid in early diagnosis and management of MLD, especially in juvenile-onset cases.