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Speicheldrüsenchoristom im Mittelohr bei mittels Array-CGH diagnostiziertem branchiootorenalem Syndrom

Middle ear salivary gland choristoma related to branchio-oto-renal syndrome diagnosed by array-CGH

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Zusammenfassung

Das branchiootorenale (BOR-)Syndrom ist charakterisiert durch Ohrmissbildungen, verbunden mit einer sensorineuralen oder kombinierten Schwerhörigkeit. Daneben treten Ohranhängsel, präaurikuläre Fisteln, Halsfisteln und -zysten sowie Nierenmissbildungen auf. Ursache ist in den überwiegenden Fällen eine genetische Veränderung auf Chromosom 8, die autosomal-dominant vererbt oder als spontane Mutation auftritt. Mit der arraybasierten komparativen genomischen Hybridisierung (Array-CGH) besteht die Möglichkeit, auch kleinste genetische Veränderungen nachzuweisen. Ein Speicheldrüsenchoristom im Mittelohr ist extrem selten. Eine operative Entfernung und histologische Klärung ist anzustreben.

Abstract

Branchio-oto-renal (BOR) syndrome is characterized by ear malformations associated with sensorineural or mixed hearing loss. In addition, preauricular tags, preauricular pits, branchial cleft fistulas and cysts, as well as renal dysplasia are seen. A genetic mutation on chromosome 8, either autosomal dominantly inherited or occuring as a spontaneous mutation, is the cause in the majority of cases. Using array-based comparative genomic hybridization (CGH), it is possible to detect even the smallest genetic changes. Salivary gland choristoma in the middle ear is very rare. Surgical removal and histological clarification are required.

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Authors and Affiliations

  1. Klinik für Hals- Nasen- Ohrenkrankheiten, Plastische Operationen, Klinikum Stuttgart, Stuttgart, Deutschland

    P. Amrhein, C. Sittel & A. Koitschev

  2. Institut für klinische Genetik, Klinikum Stuttgart, Stuttgart, Deutschland

    C. Spaich

  3. Praxis für Humangenetik, Freiburg, Deutschland

    J. Kohlhase

  4. Funktionsbereich Pädaudiologie und Phoniatrie, Klinikum Stuttgart, Stuttgart, Deutschland

    R. Boppert

  5. Institut für Pathologie, Klinikum Stuttgart, Stuttgart, Deutschland

    P. Kohlhof

Authors
  1. P. Amrhein
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  2. C. Sittel
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  3. C. Spaich
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  4. J. Kohlhase
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  5. R. Boppert
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  6. P. Kohlhof
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  7. A. Koitschev
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Amrhein, P., Sittel, C., Spaich, C. et al. Speicheldrüsenchoristom im Mittelohr bei mittels Array-CGH diagnostiziertem branchiootorenalem Syndrom. HNO 62, 374–377 (2014). https://doi.org/10.1007/s00106-013-2728-x

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  • DOI: https://doi.org/10.1007/s00106-013-2728-x

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