Author(s): Rolfs, Prof. Arndt, MD, Giese, Anne Katrin, MD, Eichler, Sabrina, PhD, Szymańska, Krystyna, PhD, Ługowska, Agnieszka, MD, Laure-Kamionowska, Milena, PhD, Bekiesińska-Figatowska, Monika, PhD, Gieruszczak-Białek, Dorota, MD, Musielak, Małgorzata, PhD
A careful clinical description of two patients with Krabbe disease is followed by a discussion of radiological, biochemical, genetic, and neuropathological studies. Read more!
Globoid cell leukodystrophy (GLD, also known as Krabbe disease), whose pathophysiology is still not completely elucidated, is an inherited, metabolic, and neurodegenerative disease, caused by the deficiency of β-galactocerebrosidase (GALC) or in very rare cases by lack of active saposin A. We describe two patients, in whom first MRI changes were not suggestive of GLD. A careful clinical description of presented patients is followed by a discussion of radiological, biochemical, genetic, and neuropathological studies.
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