Leukodystrophien im Erwachsenenalter: Diagnostik Schritt für Schritt

Die klinische Manifestation von adulten Leukodystrophien ist oft unspezifisch, doch kann die MRT bei der Sicherung der Diagnose helfen, vor allem in den Frühstadien der Erkrankung bei präsymptomatischen Patienten und Trägern. In diesem Artikel wird ein schrittweises Vorgehen bei der Diagnosesicherung von Leukodystrophien im Erwachsenenalter in Form eines Algorithmus vorgeschlagen, um die Bandbreite der Differenzialdiagnosen einzugrenzen.

Abstract

Leukodystrophies usually affect children, but in the last several decades, many instances of adult leukodystrophies have been reported in the medical literature. Because the clinical manifestation of these diseases can be nonspecific, MRI can help with establishing a diagnosis. A step-by-step approach to assist in the diagnosis of adult leukodystrophies is proposed in this article. The first step is to identify symmetric white matter involvement, which is more commonly observed in these patients. The next step is to fit the symmetric white matter involvement into one of the proposed patterns. However, a patient may present with more than one pattern of white matter involvement. Thus, the third step is to evaluate for five distinct characteristics – including enhancement, lesions with signal intensity similar to that of cerebrospinal fluid, susceptibilityweighted MRI signal intensity abnormalities, abnormal peaks at MR spectroscopy, and spinal cord involvement – to further narrow the differential diagnosis.

Kernaussagen

• Die symmetrische Beteiligung der weißen Substanz im MRT-Bild ist ein wesentlicher Befund bei Patienten mit Leukodystrophien im Erwachsenenalter, da Leukodystrophien häufig mit erblichen Störungen assoziiert sind.

• T2w und FLAIR-MRT-Sequenzen sind am besten geeignet, um die Beteiligung der weißen Substanz zu bestimmen.

• Manchmal zeigt ein und derselbe Patient mehr als ein Beteiligungsmuster der weißen Substanz im Verlauf der Erkrankung und eine bestimmte Leukodystrophie kann sich mit mehr als einem dieser Muster manifestieren. In dieser Situation hilft die Suche nach charakteristischen Befunden (Schritt 3), die möglichen Differenzialdiagnosen einzuschränken und gezielt spezifische bestätigende Untersuchungen durchzuführen.

• Das periventrikuläre Muster ist wahrscheinlich das häufigste aller Muster und unzählige verschiedene Erkrankungen, einschließlich anderer Erkrankungen als Leukodystrophien, können sich mit einer periventrikulären Beteiligung manifestieren.

• Das Peak-Muster in der MR-Spektroskopie könnte als ein potenzieller nicht invasiver Biomarker des Therapieansprechens bei behandelbaren Erkrankungen wie der zerebrotendinösen Xanthomatose eingesetzt werden.

Schlüsselwörter

Adulte Leukodystrophien - Differenzialdiagnose - MRT - diagnostischer Algorithmus

Keywords

Adult leukodystrophies - differential diagnosis - MRI - diagnostic algorithm

Publikationsverlauf

Artikel online veröffentlicht:
06. Mai 2020

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