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.

Schlüsselwörter

Adulte Leukodystrophien - Differenzialdiagnose - MRT - diagnostischer Algorithmus

Keywords

Adult leukodystrophies - differential diagnosis - MRI - diagnostic algorithm

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