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Junger Patient mit Paragangliomsyndrom Typ 1

Eine interdisziplinäre Herausforderung

A young patient with paraganglioma syndrome type I

An interdisciplinary challenge

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Zusammenfassung

Ein 33-jähriger Patient stellte sich mit einem seit mehreren Jahren bestehendem pulssynchronem Ohrgeräusch links in unserer Poliklinik vor. Bei der ohrmikroskopischen Untersuchung zeigte sich links eine fleischige Raumforderung von etwa 2 × 2 mm am Gehörgangsboden kurz vor dem Trommelfell, zusätzlich eine Hypoglossusparese rechts sowie ein Stimmlippenstillstand rechts. In der durchgeführten Computertomographie (CT) mit Kontrastmittel zeigten sich multiple Paragangliome im Kopf-Hals-Bereich. Eine anschließende molekulargenetische Untersuchung ergab eine Mutation des SDHD-Gens und somit die Diagnose eines Paragangliomsyndroms 1. Bei der nun folgenden Therapie war das oberste Gebot ein Funktionserhalt der kaudalen Hirnnervengruppe links bei bereits bestehenden Funktionsausfällen der kaudalen Hirnnervengruppe rechts. Dies wurde durch ein mehrzeitiges, interdisziplinäres Vorgehen gemeinsam mit den Strahlentherapeuten erreicht.

Abstract

A 33-year old patient presented at our outpatient department with pulse-synchronous tinnitus in the left ear of several years’ standing. Examination of the left ear showed a neoplasm at the base of the meatus in front of the ear drum. In addition, there was paresis of the right hypoglossal nerve and right vocal cord. CT scan showed multiple paraganglioma in the head and neck region. Molecular genetic screening analysis showed a mutation of the SDHD gene and thus the diagnosis of paraganglioma syndrome type 1 was made. In the treatment concept presented here the main goal was preservation of function of the left cranial nerves due to the functional loss of the right cranial nerves X and XII. This goal could be achieved by means of a staged procedure in collaboration with radiotherapists.

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Authors and Affiliations

  1. Hals-Nasen-Ohren-Klinik, Kopf- und Halschirurgie, Universitätsklinikum Erlangen, Waldstr. 1, 91054, Erlangen, Deutschland

    C. Brase, K. Rogler & J. Hornung

  2. Innere Medizin IV (Schwerpunkt: Nephrologie und Allgemeinmedizin), Medizinische Universitätsklinik Freiburg, Freiburg, Deutschland

    H. Neumann

  3. Radiologisches Institut, Universitätsklinikum Erlangen, Erlangen, Deutschland

    M. Lell

  4. Institut für Pathologie, Kaufbeuren, Deutschland

    S. Schwarz-Furlan

  5. Pathologisches Institut, Universitätsklinikum Erlangen, Erlangen, Deutschland

    S. Schwarz-Furlan

Authors
  1. C. Brase
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  2. H. Neumann
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  3. M. Lell
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  4. S. Schwarz-Furlan
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  5. K. Rogler
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  6. J. Hornung
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Corresponding author

Correspondence to C. Brase.

Additional information

Auszugsweise vorgestellt auf der 81. Jahresversammlung der Deutschen Gesellschaft für Hals-Nasen-Ohren-Heilkunde, Kopf- und Halschirurgie am 15.05.10 in Wiesbaden.

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Brase, C., Neumann, H., Lell, M. et al. Junger Patient mit Paragangliomsyndrom Typ 1. HNO 60, 721–724 (2012). https://doi.org/10.1007/s00106-011-2407-8

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  • DOI: https://doi.org/10.1007/s00106-011-2407-8

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