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Neurofibromatose Typ 1

Von der Diagnose bis zum Follow-up

Neurofibromatosis type 1

From diagnosis to follow-up

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  • Published:
Pädiatrie & Pädologie Aims and scope

Zusammenfassung

Hintergrund

Die Neurofibromatose Typ 1 (NF1) ist ein Tumorprädispositionssyndrom und die häufigste autosomal dominant vererbte Erkrankung. Daher ist sie ein im klinischen Alltag des Radiologen anzutreffendes Krankheitsbild. Da die Variabilität der klinischen Ausprägung sehr groß ist und mehrere Organsysteme betroffen sind, soll in diesem Artikel eine standardisierte diagnostische Herangehensweise präsentiert werden.

Methodik

Auswertung der Literatur zur Neurofibromatose Typ 1 im Kontext mit den radiologischen Untersuchungsmethoden.

Ergebnisse

Neben den häufig bekannten Veränderungen im zentralen und peripheren Nervensystem wie dem Optikusgliom und den plexiformen Neurofibromen müssen auch Läsionen aus dem orthopädischen Spektrum und Gefäßveränderungen in die radiologische Ausbreitungsdiagnostik einbezogen werden.

Schlussfolgerung

Aufgrund der Diversität des Krankheitsbilds der NF1 ist es sinnvoll, eine Untersuchungsstrategie zu formulieren, die einerseits den Bedürfnissen der radiologischen Routine Rechnung trägt und andererseits die häufigsten und prognostisch bedeutsamsten Pathologien dieser Erkrankung sicher erfasst. In der vorliegenden Arbeit werden die aktuellen Empfehlungen zur Diagnostik der Neurofibromatose-assoziierten Tumoren wie auch der orthopädisch skeletalen Veränderungen zusammengefasst und Vorschläge zu den Untersuchungsprotokollen sowie den Zeitintervallen unterbreitet.

Abstract

Background

Neurofibromatosis type 1 (NF1) is a tumor predisposition syndrome and is one of the most common genetic diseases. It is therefore a condition encountered by radiologists in clinical routine. Since the variability of the clinical expression is very high and several organ systems are affected, we present a standardized diagnostic approach in this article.

Methods

Evaluation of the literature on neurofibromatosis type 1 in the context of radiological examination methods.

Results

In addition to the frequently known changes in the central and peripheral nervous system such as optic gliomas and plexiform neurofibromas, lesions from the orthopedic spectrum and vascular changes must also be included in the radiological diagnosis.

Conclusions

Due to the diversity of the clinical picture of NF1, it is reasonable to define an examination strategy which takes into account the needs of radiological routine and also reliably detects the most frequent and prognostically significant pathologies accompanying this disease. In this article, the current recommendations for diagnosis of neurofibromatosis-associated tumors and skeletal changes are summarized, and examination protocols and time intervals are suggested.

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Authors and Affiliations

  1. Institut für Kinderradiologie, Universitätsklinikum Leipzig, Liebigstr. 20a, 04103, Leipzig, Deutschland

    Rebecca Anders, Franz Wolfgang Hirsch & Christian Roth

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  1. Rebecca Anders
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  2. Franz Wolfgang Hirsch
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Correspondence to Christian Roth.

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Interessenkonflikt

R. Anders, F.W. Hirsch und C. Roth geben an, dass kein Interessenkonflikt besteht.

Für diesen Beitrag wurden von den Autor/-innen keine Studien an Menschen oder Tieren durchgeführt. Für die aufgeführten Studien gelten die jeweils dort angegebenen ethischen Richtlinien.

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Artikel erstmals erschienen in Radiologie (2022) 62:1050–1057. https://doi.org/10.1007/s00117-022-01059-7

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Anders, R., Hirsch, F.W. & Roth, C. Neurofibromatose Typ 1. Paediatr. Paedolog. 59, 95–103 (2024). https://doi.org/10.1007/s00608-024-01209-1

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