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A case of achondroplasia with severe pulmonary hypertension due to obstructive sleep apnea

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Abstract

Achondroplasia is the most common skeletal dysplasia in children. Achondroplasic patients have a short cranial face and midface hypoplasia. They often have sleep-related respiratory disturbances that lead to hypoxemia caused by midfacial hypoplasia, a small upper airway, hypotonia of airway muscles, or brain stem compression. It has been well described that obstructive sleep apnea can cause pulmonary hypertension (PH) through the mechanism of chronic hypoxemia. However, severe PH due to obstructive-type sleep disorder is rare in patients with achondroplasia. In this report, we describe a 5-year-old girl with achondroplasia whose severe PH was caused by upper-airway obstruction and was resolved gradually after adenotonsillectomy.

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Authors and Affiliations

  1. Division of Pediatric Cardiology, Adana Teaching and Research Center, Başkent University, Adana, Turkey

    Selman Vefa Yıldırım

  2. Department of Pediatrics, Adana Teaching and Research Center, Başkent University, Adana, Turkey

    Cemile Durmaz

  3. Department of Radiology, Adana Teaching and Research Center, Başkent University, Adana, Turkey

    Mir Ali Pourbagher

  4. Department of Otorhynolaryngology, Adana Teaching and Research Center, Başkent University, Adana, Turkey

    Alper Nabi Erkan

  5. Kurtuluş Mah., 13.sok. Egemert Apt., No. 7, Seyhan, Adana, Turkey

    Selman Vefa Yıldırım

Authors
  1. Selman Vefa Yıldırım
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  2. Cemile Durmaz
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  3. Mir Ali Pourbagher
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  4. Alper Nabi Erkan
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Correspondence to Selman Vefa Yıldırım.

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Yıldırım, S.V., Durmaz, C., Pourbagher, M.A. et al. A case of achondroplasia with severe pulmonary hypertension due to obstructive sleep apnea. Eur Arch Otorhinolaryngol 263, 775–777 (2006). https://doi.org/10.1007/s00405-006-0042-x

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  • DOI: https://doi.org/10.1007/s00405-006-0042-x

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