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Pycnodysostosis with extreme sleep apnea: a possible alternative to tracheotomy

Giacomo Della Marca1, Emanuele Scarano, Chiara Leoni

  • 1Department of Neurosciences, Catholic University, Policlinico Universitario A. Gemelli, Rome, Italy. dellamarca@rm.unicatt.it

Sleep & Breathing = Schlaf & Atmung
|January 15, 2011
PubMed

Insights

Pycnodysostosis patients with severe obstructive sleep apnea syndrome can be effectively treated. A combination of upper airway surgery and positive pressure ventilation improved breathing and airway patency.

Area of Science:

  • Genetics
  • Pediatrics
  • Otolaryngology

Background:

  • Pycnodysostosis is a rare autosomal recessive disorder caused by cathepsin K gene mutations, leading to bone deterioration.
  • Patients may present with facial dysmorphisms, failure to thrive, and respiratory issues.

Observation:

  • A 5-year-old pycnodysostosis patient exhibited extremely severe obstructive sleep apnea syndrome (OSAS) with an apnea-hypopnea index (AHI) of 81.6 events/hour.
  • The patient also had palatal obstruction due to hypertrophic soft tissue.

Findings:

  • Surgical intervention, including adenotonsillectomy and uvulopalatopharyngoplasty (UPPP), significantly increased the Posterior Airway Space (PAS) from 3 mm to 19 mm.
  • Post-operative polysomnography showed a dramatic reduction in AHI from 81.6 to 12.3 events/hour.
  • Positive pressure ventilation was used in conjunction with surgery.

Implications:

  • Conservative surgical management (adenotonsillectomy + UPPP) can enhance upper airway patency in pycnodysostosis patients.
  • This combined approach may prevent the need for tracheotomy in severe OSAS cases.
  • Effective treatment of OSAS in pycnodysostosis can improve patient outcomes.
Abstract

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