Cerebrotendinous xanthomatosis: clinical and MRI study (a case report)

We report a patient with cerebrotendinous xanthomatosis (CTX) presenting with dementia, spastic tetraparesis and an unreported akinetic-rigid syndrome. Computed tomography (CT) showed only cerebellar abnormalities while magnetic resonance imaging (MRI) detected additional pallidal and mesencephalic...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Journal of neurology, neurosurgery and psychiatry neurosurgery and psychiatry, 1990-01, Vol.53 (1), p.76-78
Hauptverfasser:	Fiorelli, M, Di Piero, V, Bastianello, S, Bozzao, L, Federico, A
Format:	Artikel
Sprache:	eng
Schlagworte:	Achilles Tendon - pathology Adult Biological and medical sciences Brain Diseases, Metabolic - diagnosis Brain Diseases, Metabolic - genetics Cerebellum - pathology Cholesterol - blood Dementia - diagnosis Dementia - genetics Errors of metabolism Female Globus Pallidus - pathology Humans Lipids (lysosomal enzyme disorders, storage diseases) Magnetic Resonance Imaging Medical sciences Mesencephalon - pathology Metabolic diseases Xanthomatosis - diagnosis Xanthomatosis - genetics
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Beschreibung
Zusammenfassung:	We report a patient with cerebrotendinous xanthomatosis (CTX) presenting with dementia, spastic tetraparesis and an unreported akinetic-rigid syndrome. Computed tomography (CT) showed only cerebellar abnormalities while magnetic resonance imaging (MRI) detected additional pallidal and mesencephalic focal alterations. MRI findings, but not CT, correlated with the clinical picture.
ISSN:	0022-3050 1468-330X
DOI:	10.1136/jnnp.53.1.76