title: Tay's syndrome: MRI.
abstract: Tay's syndrome is a trichothiodystrophy associated with congenital ichthyosis. We report the findings on MRI and spectroscopy in a young girl with sparse, short, ruffled hair, dry skin and delayed milestones. T2-weighted images showed prominent diffuse confluent increase in signal symmetrically in all the supratentorial white matter. These findings are similar to those in a previously described case, and consistent with dysmyelination. Spectroscopy showed increased myoinositol and decreased choline.
authors.affiliation: Institut of Neuroradiology, Johann Wolfgang Goethe-University, Schleusenweg 2-16, 60528 Frankfurt/Main, Germany. Stalmann.Porto@t-online.de
authors.forename: L
authors.initials: L
authors.lastname: Porto
authors.forename: R
authors.initials: R
authors.lastname: Weis
authors.forename: C
authors.initials: C
authors.lastname: Schulz
authors.forename: P
authors.initials: P
authors.lastname: Reichel
authors.forename: H
authors.initials: H
authors.lastname: Lanfermann
authors.forename: F E
authors.initials: FE
authors.lastname: Zanella
mesh_terms: D001921:Brain / Q000473:pathology*; D002675:Child, Preschool; D003711:Demyelinating Diseases / Q000473:pathology; D005260:Female; D006201:Hair Diseases / Q000473:pathology; D006801:Humans; D007057:Ichthyosis / Q000473:pathology*; D008607:Intellectual Disability / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D013577:Syndrome