eMedicine Specialties > Pediatrics: General Medicine > Pulmonology

Congenital Central Hypoventilation Syndrome: Follow-up

Author: Terry Chin, MD, PhD, Associate Professor of Pediatrics, Pediatric Allergy/Immunology/Pulmonology, Department of Pediatrics, University of California Irvine School of Medicine; Associate Director, Miller Children's Hospital at Long Beach Memorial Medical Center
Coauthor(s): Cyrus M Shahriary, MD, Fellow, Pediatric Pulmonology, University of California at Irvine, Miller Children's Hospital; David Gozal, MD, Vice-Chairman of Research and Director, Kosair Children's Hospital Comprehensive Sleep Medicine Center, Professor, Department of Pediatrics, University of Louisville
Contributor Information and Disclosures

Updated: Dec 19, 2008

Follow-up

Further Outpatient Care

  • Periodic follow-up is necessary and is usually more frequent in younger children with congenital central hypoventilation syndrome (CCHS). Follow-up incorporates multidisciplinary approaches, aiming to determine that all areas receiving care are addressed. In addition, adequacy of ventilatory support must be established based on an overnight sleep study in the laboratory.
  • The CCHS family network provides community support.

Complications

  • Major complications of congenital central hypoventilation syndrome relate to delay in diagnosis or to complications associated with procedures (eg, tracheostomy, gastrostomy tube, colostomy).
  • Rarely, patients may develop neural crest–derived tumors (eg, ganglioneuroma, neuroblastoma, ganglioneuroblastoma).

Prognosis

  • Overall, the prognosis of patients with congenital central hypoventilation syndrome is excellent if the diagnosis is prompt and medical management is appropriate; however, neurocognitive deficits of varying severity, stunted growth, cor pulmonale, and/or seizure disorders are frequent in older patients who may not have benefited from prompt recognition or intervention.

Patient Education

Miscellaneous

Medicolegal Pitfalls

  • The major medicolegal situations that may develop primarily involve the delayed diagnosis of congenital central hypoventilation syndrome (CCHS) or the assignment of causal relationships between congenital central hypoventilation syndrome and any type of fetal exposure.
  • For example, legal issues may arise from the potential association between ingestion of any given medication or exposure to a particular environmental situation; however, no current evidence links a particular teratogen to congenital central hypoventilation syndrome. Thus, although the embryology of the neural crest is still actively researched and is clearly linked to congenital central hypoventilation syndrome, no associations between exposure to chemicals during a particular phase of pregnancy and ultimate development of congenital central hypoventilation syndrome are noted.
  • A more frequent, albeit less argumentative, issue involves the recognition and diagnosis of congenital central hypoventilation syndrome. Infants who develop apnea or apparent life-threatening events during early postnatal life could have a mild variant of the wide clinical spectrum of congenital central hypoventilation syndrome and ultimately die of sudden infant death syndrome. Because the manifestations in cases of sudden infant death syndrome/congenital central hypoventilation syndrome are subtle, diagnosing congenital central hypoventilation syndrome and preventing sudden infant death syndrome would be impossible.
  • On the other side of the severity spectrum, multiple unsuccessful trials to wean mechanical ventilation in an otherwise full-term baby should raise the suspicion for central hypoventilation syndrome, either congenital or secondary to other conditions. Early recognition of the appropriate diagnostic entity using the diagnostic approach elaborated in Workup prevents unnecessary delays in tracheotomy and in the institution of mechanical ventilatory support using a home ventilator, thereby accelerating the discharge process and preventing iatrogenic complications (eg, self extubation, acute and chronic tracheal injury) that arise from ventilatory support using an endotracheal tube.

Special Concerns

  • Congenital central hypoventilation syndrome is a diagnosis of exclusion. This means that cardiac, neurologic, pulmonary, and generalized disorders need to be excluded before the diagnosis of congenital central hypoventilation syndrome is established.
 
Acknowledgments

The authors and editors of eMedicine gratefully acknowledge the contributions of previous author, Mariam M Ischander, MD, to the development and writing of this article.



More on Congenital Central Hypoventilation Syndrome

Overview: Congenital Central Hypoventilation Syndrome
Differential Diagnoses & Workup: Congenital Central Hypoventilation Syndrome
Treatment & Medication: Congenital Central Hypoventilation Syndrome
Follow-up: Congenital Central Hypoventilation Syndrome
References
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References

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Further Reading

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Keywords

congenital central hypoventilation syndrome, CCHS, Ondine curse, Ondine's curse, sleep-induced apnea, central apnea, central hypoventilation, autonomic nervous system dysregulation, ANS dysregulation, Hirschsprung disease, Hirschsprung's disease, obstructive sleep apnea syndrome, sudden infant death syndrome, Rett syndrome, stunted growth, cor pulmonale, neural crest tumors, apnea, heart failure, apparent life-threatening event, SIDS, neuroblastoma, gastroesophageal reflux

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Contributor Information and Disclosures

Author

Terry Chin, MD, PhD, Associate Professor of Pediatrics, Pediatric Allergy/Immunology/Pulmonology, Department of Pediatrics, University of California Irvine School of Medicine; Associate Director, Miller Children's Hospital at Long Beach Memorial Medical Center
Terry Chin, MD, PhD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Association of Immunologists, American College of Allergy, Asthma and Immunology, American College of Chest Physicians, American Thoracic Society, California Thoracic Society, Clinical Immunology Society, and Western Society for Pediatric Research
Disclosure: Nothing to disclose.

Coauthor(s)

Cyrus M Shahriary, MD, Fellow, Pediatric Pulmonology, University of California at Irvine, Miller Children's Hospital
Cyrus M Shahriary, MD is a member of the following medical societies: American Academy of Pediatrics, Iran Medical Council, and Iranian Society of Pediatrics
Disclosure: Nothing to disclose.

David Gozal, MD, Vice-Chairman of Research and Director, Kosair Children's Hospital Comprehensive Sleep Medicine Center, Professor, Department of Pediatrics, University of Louisville
David Gozal, MD is a member of the following medical societies: Society for Pediatric Research
Disclosure: Nothing to disclose.

Medical Editor

Girish D Sharma, MD, Associate Professor, Department of Pediatrics, Rush University Medical Center, Rush Children's Hospital; Director of Pediatric Pulmonary Section and Rush Cystic Fibrosis Center
Girish D Sharma, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Chest Physicians, American Thoracic Society, and Royal College of Physicians of Ireland
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Heidi Connolly, MD, Associate Professor of Pediatrics and Psychiatry, University of Rochester; Director, Pediatric Sleep Medicine Services, Strong Sleep Disorders Center
Heidi Connolly, MD is a member of the following medical societies: American Academy of Pediatrics, American Thoracic Society, and Society of Critical Care Medicine
Disclosure: Nothing to disclose.

CME Editor

Mary E Cataletto, MD, Associate Director, Division of Pediatric Pulmonology, Winthrop University Hospital; Professor of Clinical Pediatrics, State University of New York at Stony Brook; Director of Children's Sleep Services, Winthrop University Hospital
Mary E Cataletto, MD is a member of the following medical societies: American Academy of Pediatrics and American College of Chest Physicians
Disclosure: Shering Plough Pharmaceuticals Honoraria Consulting

Chief Editor

Michael R Bye, MD, Professor of Clinical Pediatrics, Division of Pulmonary Medicine, Columbia University College of Physicians and Surgeons; Attending Physician, Pediatric Pulmonary Medicine, Columbia University Medical Center
Michael R Bye, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Chest Physicians, and American Thoracic Society
Disclosure: Merck Honoraria Speaking and teaching

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