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Neurofibromatosen

Neurofibromatoses

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Zusammenfassung

Die Neurofibromatosen zählen zu den vererbbaren neurokutanen Syndromen, den Phakomatosen, zu deren Gruppe neben der Neurofibromatose Typ 1 (NF1) und Typ 2 (NF2) auch die Schwannomatose zählt. Als gemeinsames Merkmal weisen sie eine Prädisposition zur Entwicklung von Tumoren, die von den Schwann-Zellen der Nervenscheiden ausgehen, auf. Im Hinblick auf die Genetik und das klinische Erscheinungsbild der Erkrankungen handelt es sich jedoch um unterschiedliche Entitäten, die auch im folgenden Beitrag gesondert abgehandelt werden. Neben der Darstellung der typischen klinischen Befunde und der Diagnosekriterien werden die für die jeweilige Erkrankung charakteristischen Bildbefunde demonstriert, insbesondere hinsichtlich der Rolle der bildgebenden Verfahren bei der Diagnosestellung, im Verlauf und bei der Prognoseabschätzung dieser multisystemischen Erkrankungen.

Abstract

Neurofibromatosis type 1 (NF1) and type 2 (NF2) are hereditary autosomal dominant neurocutaneous disorders, the phacomatoses, characterized by the development of tumors derived from the cells of the peripheral nerve sheath and also includes schwannomatosis. Regarding the clinical and genetic aspects they are, however, two distinct entities which are described separately in the following review. In addition to the typical clinical presentation and diagnostic criteria, characteristic imaging findings are presented especially in terms of the role of imaging in the diagnosis, follow-up and assessment of prognostic aspects in these multisystemic disorders.

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Einhaltung ethischer Richtlinien

Interessenkonflikt. A. Zimmer gibt an, dass kein Interessenkonflikt besteht. Dieser Beitrag beinhaltet keine Studien an Menschen oder Tieren.

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  1. Klinik für Diagnostische und Interventionelle Neuroradiologie, Universitätsklinikum des Saarlandes, Kirrberger Straße, 66421, Homburg/Saar, Deutschland

    A. Zimmer

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Zimmer, A. Neurofibromatosen. Radiologe 53, 1077–1083 (2013). https://doi.org/10.1007/s00117-013-2555-9

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