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DOI: 10.1055/s-2006-927362
© Georg Thieme Verlag KG Stuttgart · New York
Zerebrale Bildgebung bei Morbus Wilson
Cerebral Imaging for Wilson DiseasePublication History
eingereicht: 4.8.2006
angenommen: 30.11.2006
Publication Date:
15 February 2007 (online)
![](https://www.thieme-connect.de/media/roefo/200703/lookinside/thumbnails/10.1055-s-2006-927362-1.jpg)
Zusammenfassung
Dem Morbus Wilson liegt eine autosomal rezessiv vererbte Kupferstoffwechselstörung zugrunde, welche mit einer gestörten biliären Kupferexkretion und einem erhöhten freien Serumkupferspiegel einhergeht. Dieses führt zu einer toxischen Kupferakkumulation in Geweben, insbesondere in der Leber und im Gehirn. Klinisch überwiegt daher eine hepatische und/oder extrapyramidale Symptomatik. Unbehandelt führt die Erkrankung zum Tod. Zerebrale Veränderungen sind am sensitivsten mit der Magnetresonanztomografie nachweisbar. Pathologische Befunde betreffen schwerpunktmäßig die Basalganglien, das Mittelhirn und den Hirnstamm. Je nach Therapieverlauf und Schweregrad der neurologischen Symptomatik zeigen sich sowohl Signalanhebungen als auch Signalabsenkungen in T1-gewichteten (T1w) und T2-gewichteten (T2w) Bildern, welche unter einer suffizienten Therapie reversibel sein können. Hyperintense Areale in T2w-Bildern sind durch eine Ödembildung, Gliose, Demyelinisierung oder einer zystischen Degeneration hervorgerufen. Signalanhebungen in T1w-Bildern finden sich bei Patienten mit hepatischer Insuffizienz und unterliegen vermutlich Manganablagerungen. Hypointensitäten in T2w-Bildern werden vermutlich durch den paramagnetischen Effekt der Kupferakkumulation verursacht. Neuere Untersuchungen zeigen außerdem eine Korrelation zwischen dem klinischen Schweregrad und Veränderungen in diffusionsgewichteten Sequenzen. Obwohl bildgebende Verfahren in der primären Diagnostik eines M. Wilson eine eher untergeordnete Rolle spielen, müssen die genannten, zerebralen Veränderungen insbesondere bei Patienten mit extrapyramidalen Störungen differenzialdiagnostisch an einen M. Wilson denken lassen. MR-Verlaufsbeobachtungen können ein Baustein der Therapiekontrolle sein, da ein Persistieren bzw. eine Progredienz hyperintenser Signale in T2w-Bildern ein Therapieversagen reflektiert.
Abstract
Wilson disease is an autosomal recessive inherited copper metabolic disorder that is characterized by diminished biliary excretion of copper and a raised serum level of free copper. This leads to a toxic copper accumulation, particularly in the liver and the brain. Therefore, clinical symptoms are dominated by hepatic and extrapyramidal symptoms. Untreated Wilson disease has an unfavorable outcome. Cerebral changes are depicted most sensitively by magnetic resonance tomography. Pathological findings mainly focus on the basal ganglia, the midbrain and the brainstem. Depending on the therapy and the severity of the neurological symptoms, signal increase as well as signal decrease may be observed in T1-weighted (T1w) and T2-weighted (T2w) images and can be reversible when using an appropriate therapy. Hyperintense areas in T2-weighted images are induced by edema, gliosis, demyelinisation or cystic degeneration. Signal increase in T1-weighted images are found in patients with hepatic insufficiency and are probably due to manganese deposits. Signal decrease in T2-weighted images is probably caused by the paramagnetic effect of the copper accumulation. Furthermore, recent studies show a correlation between the clinical severity and changes in diffusion-weighted sequences. Although cross-section imaging plays a rather subordinate role in the primary diagnostics of Wilson disease, the described cerebral changes in patients with extrapyramidal disturbances should include Wilson disease in the differential. Persistent or progressive hyperintense lesions in T2-weighted images reflect therapy failure, and clinical recovery correlates to an improvement in MR images. Therefore, repeat MR imaging can be used to monitor medical therapy.
Key words
manganese - brain - basal ganglia - CT - MR imaging
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Dr. Kjel Andersen
Institut für Diagnostische Radiologie, Universitätsklinikum Düsseldorf
Moorenstr. 5
40225 Düsseldorf
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