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Congenital central hypoventilation syndrome: a case report
Bresney A Crowell1, Robin L Bissinger, Margaret Conway-Orgel
1Medical University of South Carolina, Charleston, SC 29425, USA. crowellb@musc.edu
Summary
Congenital central hypoventilation syndrome (CCHS) is a rare, lifelong disorder causing breathing failure during sleep. This case highlights diagnosis and management in a newborn, emphasizing PHOX2B gene analysis for confirmation.
Area of Science:
- Pediatric Pulmonology
- Clinical Genetics
- Autonomic Nervous System Disorders
Background:
- Congenital central hypoventilation syndrome (CCHS) is a rare, life-threatening disorder.
- It is characterized by autonomic nervous system dysfunction, primarily affecting ventilatory control during sleep.
- CCHS leads to inadequate response to hypoxia and hypercapnia, resulting in persistent apnea.
Observation:
- A case of CCHS is presented in a 38-week-gestation infant.
- The infant presented with persistent apnea on day of life 2.
- Primary pulmonary, cardiac, metabolic, and neurologic conditions were excluded.
Findings:
- Diagnosis of CCHS was confirmed via PHOX2B sequence analysis.
- The infant required a tracheotomy and home ventilation.
- This case underscores the importance of genetic testing in diagnosing CCHS.
Implications:
- Early diagnosis and genetic confirmation are crucial for CCHS management.
- Lifelong monitoring and ventilatory support are essential for affected individuals.
- Understanding CCHS presentation aids in timely intervention and improved patient outcomes.
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