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The central nervous system in Tay syndrome
J R Ostergaard1, T Christensen
1Department of Pediatrics A, University Hospital of Aarhus, Denmark.
Neuropediatrics
|December 1, 1996
Summary
Tay syndrome, a neurocutaneous disorder, involves brittle hair and developmental delays. This study highlights significant white matter hypomyelination in the brain and cerebellum, confirmed by MRI and evoked response tests.
Area of Science:
- Neuroscience
- Genetics
- Dermatology
Background:
- Trichothiodystrophy (brittle sulfur-deficient hair) is a key indicator of autosomal recessive neurocutaneous syndromes.
- Tay syndrome presents with trichothiodystrophy, ichthyosis, short stature, developmental delays, and neurological signs.
- The underlying cause of neurological issues in Tay syndrome remains unclear.