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[Pyknodysostosis: extreme cause of sleep apnea]
J C de Agustín1, P Jover, M León
1Departamento de Cirugía Pediátrica, Hospital Infantil La Paz, Madrid.
Insights
Pycnodysostosis syndrome in an infant caused severe obstructive sleep apnea, leading to pulmonary hypertension. A tracheostomy resolved these critical respiratory issues, highlighting surgical intervention
Area of Science:
- Pediatric Medicine
- Genetics
- Respiratory Medicine
Context:
- Pycnodysostosis syndrome is a rare genetic disorder characterized by bone fragility and dysmorphies.
- Infants with pycnodysostosis may present with craniofacial abnormalities affecting the airway.
- Obstructive sleep apnea is a significant concern in pediatric patients with craniofacial syndromes.
Purpose:
- To report a case of pycnodysostosis syndrome presenting with severe obstructive sleep apnea in an infant.
- To describe the clinical course and management of respiratory complications.
- To review the pathophysiology and treatment of obstructive sleep apnea in this context.
Summary:
- A 20-month-old infant with pycnodysostosis syndrome experienced progressive airway obstruction and obstructive sleep apnea.
- The condition led to hypoxemia, pulmonary hypertension, and cor pulmonale.
- Tracheostomy successfully treated the obstructive sleep apnea and reversed pulmonary hypertension.
Impact:
- This case highlights the critical link between pycnodysostosis and severe obstructive sleep apnea in infants.
- It underscores the importance of early diagnosis and respiratory management in affected children.
- Tracheostomy can be an effective intervention for life-threatening airway obstruction in pycnodysostosis.
Abstract:
We describe a twentieth month old infant who had a pycnodysostosis syndrome. This malformation shows a loss of the normal mandible angle with generalized bone hyperdensification. The first produced and airway obstruction, with special relevance during sleeping hours. A polysomnography revealed an obstructive sleep apnea syndrome. The respiratory picture deteriorated with worsening of the airway obstruction, hypoxemia and finally pulmonary hypertension and cor pulmonale. A tracheostomy was performed, with resolution of the sleep apnea and pulmonary hypertension. The etiology, pathophysiologic consequences and surgical treatment of obstructive sleep apnea syndrome is reviewed.