Creutzfeldt-Jakob-Krankheit: Bildgebungsmuster und ihre Differenzialdiagnose

Die Diagnose der sporadischen Creutzfeldt-Jakob-Krankheit stellt nach wie vor eine Herausforderung dar. Diese Übersichtsarbeit bietet einen aktuellen Überblick über die Muster dieser Erkrankung in der Neurobildgebung. Zudem werden die bildgebenden Muster zahlreicher Differenzialdiagnosen erörtert. Dadurch sollen Radiologen befähigt werden, diese seltene, aber stets tödlich verlaufende Erkrankung zuverlässig zu erkennen.

Abstract

Diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD) remains a challenge because of the large variability of the clinical scenario, especially in its early stages, which may mimic several reversible or treatable disorders. The molecular basis of prion disease, as well as its brain propagation and the pathogenesis of the illness, have become better understood in recent decades. Several reports have listed recognizable clinical features and paraclinical tests to supplement the replicable diagnostic criteria in vivo. Nevertheless, we lack specific data about the differential diagnosis of CJD at imaging, mainly regarding those disorders evolving with similar clinical features (mimicking disorders). This review provides an update on the neuroimaging patterns of sCJD, emphasizing the relevance of magnetic resonance (MR) imaging, summarizing the clinical scenario and molecular basis of the disease, and highlighting clinical, genetic, and imaging correlations in different subtypes of prion diseases. A long list of differential diagnoses produces a comprehensive pictorial review, with the aim of enabling radiologists to identify typical and atypical patterns of sCJD. This review reinforces distinguishable imaging findings and confirms diffusion-weighted imaging (DWI) features as pivotal in the diagnostic workup of sCJD, as these findings enable radiologists to reliably recognize this rare but invariably lethal disease. A probable diagnosis is justified when expected MR imaging patterns are demonstrated and CJD-mimicking disorders are confidently ruled out.

Kernaussagen

• Bei Prionenerkrankungen handelt es sich um eine heterogene Gruppe von neurodegenerativen Erkrankungen, die durch die abnorme Faltung eines natürlich vorkommenden Prionenproteins gekennzeichnet sind. Dieses abnorm gefaltete Protein wird als „Scrapie-Prionenprotein“ bezeichnet.

• Auffällige MRT-Befunde, insbesondere aus der DWI-Bildgebung, können bei sCJK-Patienten dem Einsetzen klinischer Manifestationen vorausgehen, selbst in unverdächtigen Fällen mit unauffälligen bzw. atypischen Ergebnissen in EEG und Liquoranalyse. Dieses Verfahren stellt daher den Grundpfeiler der Diagnostik dar und ermöglicht eine frühzeitige Diagnose.

• Eine Thalamusbeteiligung ist nicht pathognomonisch für die CJK-Variante und wurde auch bei sCJK berichtet, meistens bei bestimmten molekularen Subtypen. Dafür wird die Inzidenz mit bis zu 45 % angegeben.

• Trotz der bei sCJK anzutreffenden intensiven neuropathologischen, phänotypischen Beteiligung des Kleinhirns und der hohen Prävalenz von klinischen zerebellären Symptomen sind die Kleinhirnbefunde in der MRT typischerweise unauffällig.

• Veränderungen des zerebralen Kortex, der Basalganglien, des Thalamus und des Kleinhirns in der MRT können auch auf schwere akute Erkrankungen verschiedener anderer Ursachen zurückzuführen sein. Obwohl deren MRT-Merkmale denen einer sCJK ähneln können, sind Einzelheiten aus der klinischen Anamnese, zusätzliche MRT-Befunde sowie Laboruntersuchungen von wesentlicher Bedeutung, um eine zuverlässige Abgrenzung zu ermöglichen.

Schlüsselwörter

Sporadische Creutzfeldt-Jakob-Krankheit - Bildgebungsmuster - Differenzialdiagnosen

Keywords

Sporadic Creutzfeldt-Jakob Disease - neuroimaging patterns - differential diagnosis

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