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A Case Report on Obstructive Sleep Apnea in a Pediatric Patient with Achondroplasia

Eljohn C Yee1, Agnes T Remulla1

  • 1Department of Otolaryngology - Head and Neck Surgery, College of Medicine and Philippine General Hospital, University of the Philippines Manila.

Acta Medica Philippina
|November 1, 2024
PubMed

Insights

Severe obstructive sleep apnea (OSA) in a child with achondroplasia persisted after tonsillectomy. Management of OSA in achondroplasia is crucial for growth and development, despite being overlooked.

Area of Science:

  • Pediatric Pulmonology
  • Genetics
  • Sleep Medicine

Background:

  • Achondroplasia is a common genetic disorder associated with craniofacial abnormalities.
  • Obstructive sleep apnea (OSA) is a frequent comorbidity in children with achondroplasia.
  • Facial structure anomalies in achondroplasia can predispose individuals to airway obstruction.

Observation:

  • A 22-month-old male with achondroplasia presented with severe OSA (AHI 50.1).
  • Physical examination revealed macrocephaly, midface hypoplasia, and enlarged tonsils.
  • Tonsillectomy and adenoidectomy were performed, but OSA (AHI 15.7) persisted.

Findings:

  • Despite surgical intervention, the patient continued to exhibit severe OSA.
  • Post-operative polysomnography showed some improvement in REM and N3 sleep stages.
  • OSA management in achondroplasia requires ongoing attention due to persistent severity.

Implications:

  • OSA in achondroplasia is often overlooked but significantly impacts sleep architecture.
  • Effective OSA management is vital for optimizing growth and development in children with achondroplasia.
  • Further research and clinical prioritization of OSA in this population are warranted.

Keywords:
OSAachondroplasiapediatric sleep apneatonsillectomy

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