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Published on: December 6, 2016

Pediatric pycnodysostosis complicated by severe obstructive sleep apnea: a case report

Islam Tarik1, Farah Makhloufi2, Chafiq Mahraoui1

  • 1Department of Pediatric Infectious Diseases and Pneumo-Allergology - Pediatric I - Children's Hospital of Rabat, University Hospital Center Ibn Sina, Rabat, Morocco.

Oxford Medical Case Reports
|July 28, 2026
PubMed

Insights

Pycnodysostosis, a rare genetic bone disorder, can be associated with severe obstructive sleep apnea syndrome (OSAS). Early polysomnography screening is crucial for managing this nocturnal respiratory impairment in affected children.

Area of Science:

  • Genetics
  • Pediatrics
  • Sleep Medicine

Background:

  • Pycnodysostosis is a rare genetic disorder caused by CTSK gene mutations, leading to osteoclast dysfunction and skeletal abnormalities.
  • This case involves a child diagnosed with pycnodysostosis presenting with severe obstructive sleep apnea syndrome (OSAS).
Abstract

Keywords:
case reportcathepsin Kobstructive sleep apneapycnodysostosis

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