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's syndrome: MRI.

L Porto1, R Weis, C Schulz

  • 1Institut of Neuroradiology, Johann Wolfgang Goethe-University, Schleusenweg 2-16, 60528 Frankfurt/Main, Germany. Stalmann.Porto@t-online.de

Neuroradiology
|January 11, 2001
PubMed
Summary
This summary is machine-generated.

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

Beyond standard therapy: clinical transdiagnostic study evaluating mindfulness-based training as an adjunct to CBT for dissociation.

Frontiers in psychiatry·2026
Same author

Primary and secondary metastatic dissemination: multiple routes to cancer-related death.

Molecular cancer·2025
Same author

Treatment outcome of NSCLC patients with BRAF<sup>non-V600E</sup> mutations: a retrospective, multicentre analysis within the national Network Genomic Medicine (nNGM) Lung Cancer in Germany.

ESMO open·2025
Same author

MR dacryocystography - Optimising a dynamic imaging protocol for patients with epiphora.

Radiography (London, England : 1995)·2024
Same author

Radiographic morphology of canines tested for sexual dimorphism via convolutional-neural-network-based artificial intelligence.

Morphologie : bulletin de l'Association des anatomistes·2024
Same author

Applying artificial intelligence to determination of legal age of majority from radiographic data.

Morphologie : bulletin de l'Association des anatomistes·2023

Tay syndrome, a rare genetic disorder, presents with ichthyosis and hair abnormalities. MRI and spectroscopy reveal white matter changes and altered brain metabolites, consistent with dysmyelination.

Area of Science:

  • Neurology
  • Genetics
  • Biochemistry

Background:

  • Tay syndrome is a rare genetic disorder characterized by trichothiodystrophy and congenital ichthyosis.
  • This condition affects multiple systems, including the skin, hair, and neurological development.

Observation:

  • A case study of a young girl with Tay syndrome presented with sparse, short, ruffled hair, dry skin, and developmental delays.
  • Clinical observations highlighted the characteristic physical and developmental features associated with the syndrome.

Findings:

  • Magnetic resonance imaging (MRI) revealed significant abnormalities in brain white matter.
  • T2-weighted images showed a diffuse, confluent increase in signal intensity symmetrically in the supratentorial white matter, indicative of dysmyelination.
  • Magnetic resonance spectroscopy (MRS) demonstrated elevated myoinositol and reduced choline levels in the affected white matter.

Related Experiment Videos

Implications:

  • The neuroimaging findings support the diagnosis of dysmyelination in Tay syndrome.
  • Understanding these specific MRI and spectroscopy signatures can aid in earlier diagnosis and management of Tay syndrome.
  • Further research into the underlying biochemical pathways is warranted to explore potential therapeutic targets.