Late Infantile Onset Krabbe Disease in Siblings with Cortical Degeneration and Absence of Cerebral Globoid Cells

Abstract Krabbe disease, a disorder caused by the deficiency of lysosomal galactosylceramidase, is typically associated with cerebral white matter degeneration, cortical sparing, accumulation of macrophages (“globoid cells”), and ultrastructural needle-shaped inclusions. Two sisters presented with p...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Neuropediatrics 2004-10, Vol.35 (5), p.297-301
Hauptverfasser:	Del Bigio, M. R., Chudley, A. E., Booth, F. A., Pacin, S.
Format:	Artikel
Sprache:	eng
Schlagworte:	Age of Onset Biological and medical sciences Cerebral Cortex - pathology Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Female Humans Infant Leukodystrophy, Globoid Cell - genetics Leukodystrophy, Globoid Cell - pathology Medical sciences Neurology Short Communication Siblings Vascular diseases and vascular malformations of the nervous system
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!