Pycnodysostosis presenting as atypical stridor

Eur Ann Otorhinolaryngol Head Neck Dis. 2016 Apr;133(2):87-90. doi: 10.1016/j.anorl.2015.06.005. Epub 2016 Feb 5.

Abstract

Objectives: Pycnodysostosis is a rare genetic disorder caused by a mutation of the cathepsin K gene involved in bone turnover. It is responsible, in particular, for a combination of dwarfism and bone fragility. Upper airway obstruction may be observed, but associated stridor has never been previously described.

Materials and methods: Single-centre retrospective study over a period of 15 years with review of the literature.

Results: Three children (aged 2-18 months) were managed for stridor and obstructive sleep apnoea syndrome confirmed by polysomnography. Physical examination of these children revealed stridor with laryngomalacia, characteristic dysmorphic features and failure to thrive. Patient 1 presented typical laryngomalacia treated by surgical section of the aryepiglottic folds. Patient 2 presented upper airway obstruction with a narrow nasopharynx and long soft palate, treated by surgery and noninvasive ventilation. Patient 3 presented moderate laryngomalacia and nasal obstruction, treated by surgery and noninvasive ventilation.

Conclusion: The diagnosis of pycnodysostosis must be considered in the presence of atypical laryngomalacia associated with multifactorial upper airway obstruction, failure to thrive and dysmorphic syndrome. A genetics consultation is essential in these patients.

Keywords: Laryngomalacia; Noninvasive ventilation; OSAS; Pycnodysostosis; Snoring.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Humans
  • Infant
  • Male
  • Pycnodysostosis / complications
  • Pycnodysostosis / diagnosis*
  • Respiratory Sounds / etiology
  • Retrospective Studies