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Niikawa-Kuroki-Syndrom

An welche Besonderheiten muss der HNO-Arzt bei der Diagnose denken?

Niikawa-Kuroki syndrome

Which characteristics must the otolaryngologist take into consideration?

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Zusammenfassung

Das Niikawa-Kuroki-Syndrom (Kabuki-Syndrom) ist eine angeborene Erkrankung mit charakteristischen Gesichtsmerkmalen und möglichen Anomalien des Skelettsystems und der inneren Organe. Kombinierte Schwerhörigkeiten, Innenohrfehlbildungen und sensorineurale Schwerhörigkeiten werden beschrieben, häufig auch therapieresistente Otitis media chronica. Neben multiplen Fehlbildungen von Herz und Niere weist der vorgestellte 3-jährige Patient eine chronische Otorrhoe bei Otitis media chronica und eine hörgerätepflichtige kombinierte Schwerhörigkeit auf. In der hochauflösenden Felsenbein-CT konnten wir erstmalig bei einem Patienten mit Niikawa-Kuroki-Syndrom ein Large-vestibular-aqueduct-Syndrom und Fehlbildungen des Gleichgewichtsorganes nachweisen. Wir erörtern die Behandlung der chronischen Otorrhoe und die Versorgung mit HdO-Geräten.

Abstract

Niikawa-Kuroki syndrome (Kabuki make-up syndrome) is a congenital disorder with characteristic facial features and possibly anomalies of the skeletal system and internal organs. There is an increasing number of reports of patients with combined hearing impairment, inner ear deformities or sensorineural hearing impairment. In addition, the patients often suffer from therapy-resistant chronic otitis media. In addition to multiple cardiac and renal deformities, our 3 year old patient has a hearing impairment due to chronic otitis media with chronic otorrhea, and requires a hearing aid. A high-definition CT scan of the petrosal bone revealed, for the first time in a patient with Niikawa-Kuroki syndrome, a large vestibular aqueduct syndrome and deformities of the vestibular system. We examine the problems involved with treating chronic otorrhea in chronic otitis media and providing patients with BTE hearing aids.

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Authors and Affiliations

  1. Klinik und Poliklinik für Hals-Nasen-Ohrenheilkunde der Ludwig-Maximilians-Universität München

    J. M. Hempel, A. Naumann & K. Schorn

  2. Institut für Klinische Radiologie der Ludwig-Maximilians-Universität München

    L. Jäger

  3. Klinik und Poliklinik für Hals-, Nasen- und Ohrenkranke der Ludwig-Maximilians-Universität München, Marchioninistraße 15, 81377 , München

    J. M. Hempel

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  1. J. M. Hempel
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  2. L. Jäger
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  3. A. Naumann
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  4. K. Schorn
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Correspondence to J. M. Hempel.

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Hempel, J.M., Jäger, L., Naumann, A. et al. Niikawa-Kuroki-Syndrom. HNO 53, 253–256 (2005). https://doi.org/10.1007/s00106-004-1071-7

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  • DOI: https://doi.org/10.1007/s00106-004-1071-7

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