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

Tay-Sachs disease with conspicuous cranial computerized tomographic appearances.

K Watanabe, A Mukawa, K Muto

    Acta Pathologica Japonica
    |November 1, 1985
    PubMed
    Summary

    This case study details a 3-year-old with Tay-Sachs disease, highlighting characteristic brain imaging findings. Autopsy confirmed GM2 ganglioside accumulation and demyelination, explaining the observed CT scan patterns in late-stage disease.

    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

    Halo Structure of the Neutron-Dripline Nucleus ^{19}B.

    Physical review letters·2020
    Same author

    Japanese species of <i>Alternaria</i> and their species boundaries based on host range.

    Fungal systematics and evolution·2020
    Same author

    Sézary syndrome involving the intestinal tract.

    Clinical and experimental dermatology·2019
    Same author

    First Observation of ^{20}B and ^{21}B.

    Physical review letters·2019
    Same author

    Marine radioecology after the Fukushima Dai-ichi nuclear accident: Are we better positioned to understand the impact of radionuclides in marine ecosystems?

    The Science of the total environment·2017
    Same author

    Seasonal variations of zooplankton biomass and size-fractionated abundance in relation to environmental changes in a tropical mangrove estuary in the Straits of Malacca.

    Journal of environmental biology·2017

    Area of Science:

    • Neurology
    • Genetics
    • Pathology

    Background:

    • Tay-Sachs disease is a rare genetic disorder.
    • It leads to the accumulation of GM2 ganglioside in nerve cells.
    • This accumulation causes progressive neurodegeneration.

    Observation:

    • A 3-year-old female infant presented with typical Tay-Sachs disease symptoms.
    • Clinical diagnosis was supported by a cherry red spot and enzyme deficiency.
    • Family members were identified as carriers.

    Findings:

    • Autopsy revealed ballooning neurons, cytoplasmic bodies, and GM2 ganglioside accumulation.
    • Cranial CT scans showed characteristic late-stage changes: cortical hyperdensities and white matter hypodensities.
    • These imaging findings correlate with cerebral cortex GM2 ganglioside accumulation and severe demyelination.

    Related Experiment Videos

    Implications:

    • Cranial CT findings can be indicative of late-stage Tay-Sachs disease.
    • Understanding these pathological changes aids in diagnosis and disease management.
    • This case contributes to the pathological understanding of Tay-Sachs disease progression.