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Ciliary aplasia associated with hydrocephalus: an extremely rare occurrence

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Abstract

Ciliary aplasia is a rare congenital disease that alters the normal function of the mucociliary apparatus in several organs. Patients generally present with severe recurrent and chronic infections of the airways. A high suspect of this disorder is mandatory to perform correct diagnosis and provide prompt treatment. The authors describe the history of two siblings affected by primary ciliary aplasia that was associated with hydrocephalus in one case. A careful description of diagnostic procedures and treatment of this extremely rare disorder is also presented.

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Authors and Affiliations

  1. Department of Pediatric Otorhinolaryngology, Spedali Civili, Piazza Spedali Civili 1, 25123, Brescia, Italy

    Marco Berlucchi

  2. Department of Human Pathology and Oncology, University of Siena, Siena, Italy

    Maria Margherita de Santi

  3. Department of Pediatrics, University of Brescia, Brescia, Italy

    Elisa Bertoni, Elena Spinelli, Silviana Timpano & Rita Padoan

  4. Cystic Fibrosis Unit, Department of Pediatrics, Spedali Civili, Brescia, Italy

    Rita Padoan

Authors
  1. Marco Berlucchi
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  2. Maria Margherita de Santi
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  3. Elisa Bertoni
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  4. Elena Spinelli
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  5. Silviana Timpano
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  6. Rita Padoan
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Correspondence to Marco Berlucchi.

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Berlucchi, M., de Santi, M.M., Bertoni, E. et al. Ciliary aplasia associated with hydrocephalus: an extremely rare occurrence. Eur Arch Otorhinolaryngol 269, 2295–2299 (2012). https://doi.org/10.1007/s00405-012-2107-3

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  • DOI: https://doi.org/10.1007/s00405-012-2107-3

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