Erschienen in:
13.03.2022 | Letter to the Editor
T1-hyperintensity in the pulvinar (“Pulvinar sign”) in Klinefelter (47, XXY) syndrome: a case report
verfasst von:
Luca Panebianco, Laura D’Acunto, Bruna Nucera, Fabrizio Rinaldi, Paolo Manganotti, Raffaele Nardone, Francesco Brigo
Erschienen in:
Acta Neurologica Belgica
|
Ausgabe 2/2023
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Excerpt
Hyper-intensity in both pulvinar nuclei in T1-weighted MRI sequence, known as “Pulvinar sign” (PS), might be encountered in Fabry disease (FD) [
1], an inherited lysosomal storage disorder caused by absent or markedly deficient activity of the lysosomal enzyme alpha-galactosidase A, leading to abnormal accumulation of glycosphingolipids in the plasma and cellular lysosomes of different organs and tissues, manifesting with progressive renal failure, cardiac disease, cerebrovascular disease, peripheral neuropathy, and skin lesions [
2]. …