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ZNS-Manifestationen der Phakomatosen

CNS manifestations of neurocutaneous syndromes

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Zusammenfassung

Klinisches/methodisches Problem

Phakomatosen sind eine heterogene und unscharf definierte Gruppe von Krankheiten, die sowohl das Nervensystem als auch die Haut betreffen. Die tuberöse Sklerose, die Neurofibromatose Typ 1 und 2, das Sturge-Weber-Syndrom und der Morbus Hippel-Lindau (VHL-Syndrom) sind Entitäten mit in der Regel typischen Befunden in der neuroradiologischen Bildgebung.

Radiologische Standardverfahren

Mit Hilfe der Magnetresonanztomographie (MRT) können die typischen Befunde dieser Entitäten meist sicher identifiziert werden, so dass die Diagnostik dieser Krankheiten vereinfacht werden kann.

Abstract

Clinical/methodical issue

Phakomatoses refer to a heterogeneous and inconsistently defined group of neurocutaneous disorders. Tuberous sclerosis, neurofibromatosis types 1 and 2, Sturge–Weber syndrome and von Hippel–Lindau disease are entities with typical findings in neuroimaging studies

Standard radiological methods

These findings are usually easily depicted on magnetic resonance imaging (MRI) studies, thus, making diagnosis easier.

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Authors and Affiliations

  1. Klinik für Diagnostische und Interventionelle Neuroradiologie, Universitätsklinikum des Saarlandes, Kirrberger Straße, 66424, Homburg-Saar, Deutschland

    Umut Yilmaz

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  1. Umut Yilmaz
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Correspondence to Umut Yilmaz.

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Interessenkonflikt

U. Yilmaz gibt an, dass kein Interessenkonflikt besteht.

Dieser Beitrag beinhaltet keine von den Autoren durchgeführten Studien an Menschen oder Tieren.

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Cite this article

Yilmaz, U. ZNS-Manifestationen der Phakomatosen. Radiologe 58, 664–667 (2018). https://doi.org/10.1007/s00117-018-0413-5

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  • DOI: https://doi.org/10.1007/s00117-018-0413-5

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