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$Unique_ID{BRK03578}
$Pretitle{}
$Title{Central Hypoventilation Syndrome, Congenital}
$Subject{Central Hypoventilation Syndrome Congenital Idiopathic Alveolar
Hypoventilation Central Hypoventilation Congenital Alveolar Hypoventilation
Chronic Obstructive Pulmonary Disease Chronic Obstructive Lung Disease Chronic
Pulmonary Disease COLD Ondine's Curse}
$Volume{}
$Log{}
Copyright (C) 1986, 1989, 1990, 1992 National Organization for Rare
Disorders, Inc.
196:
Central Hypoventilation Syndrome, Congenital
** IMPORTANT **
It is possible the main title of the article (Congenital Central
Hypoventilation Syndrome) is not the name you expected. Please check the
SYNONYMS listing to find the alternate names and disorder subdivisions
covered by this article.
Synonyms
Idiopathic Alveolar Hypoventilation
Central Hypoventilation
Congenital Alveolar Hypoventilation
Chronic Obstructive Pulmonary Disease
Chronic Obstructive Lung Disease
Chronic Pulmonary Disease
COLD
Ondine's Curse
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for
educational purposes only. It should not be used for diagnostic or treatment
purposes. If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.
Congenital Central Hypoventilation Syndrome is a syndrome characterized
by a dysfunction of the brain's regulation of breathing. Patients afflicted
with this disorder have breathing which is too shallow to get air into the
entire lung.
Symptoms
The main symptom of Congenital Central Hypoventilation Syndrome is
hypoventilation (oxygen does not reach the alveoli in the periphery of the
lungs because of shallow breathing). This causes hypoxemia (low oxygen in
the blood), hypercapnia (high carbon dioxide in the blood), and acidosis
(acidity of the blood). These symptoms occur during the night in infants.
The severity of the symptoms may decrease with age.
Causes
The cause of Congenital Central Hypoventilation Syndrome is not known.
Affected Population
Congenital Central Hypoventilation Syndrome usually begins in infants,
although rarely its onset may occur in teenagers and adults, usually as a
result of trauma (i.e., accident, surgery, etc. Less than 30 cases have been
reported in the medical literature.
Related Disorders
Infants affected with Congenital Central Hypoventilation Syndrome have
breathing which is too shallow to get air into the entire lung, while
Infantile Apnea is the temporary cessation of breathing in infants. In
Chronic Obstructive Lung Disease, breathing is difficult (dyspnea), coughing
occurs, and symptoms usually appear with onset of bronchitis.
Therapies: Standard
Because the lack of oxygen during sleep in patients with Congenital Central
Hypoventilation Syndrome may cause brain damage or even fatality, monitoring
of sleep patterns is recommended in people with this disorder. Diaphragm
pacing (electrophrenic respiration) which lowers pulmonary artery pressure
and improves alveolar ventilation has been tried experimentally.
Low flow nocturnal oxygen administration combined with use of a body
respirator during sleep twice a week has also been used as treatment.
The respiratory stimulants such as almitrine and dimefline have been
administered in infants with Congenital Central Hypoventilation Syndrome.
Dimefline was effective in deepening respiration for certain periods of
sleep, during which time blood gas levels improved significantly.
Tracheostomy (making an opening in the windpipe) and insertion of a
cribral cannula (little pipe through the sieve-like bone) are surgical ways
of treating Congenital Central Hypoventilation Syndrome.
Therapies: Investigational
Experience with radio frequency electrophrenic stimulators is as yet
sparse, but promising. An MK8-Bird respirator and compressor have also been
used in treatment of this disorder. For more information on these studies,
contact Dr. William Tamborlane listed in the Resources section.
Clinical trials are underway to study diaphragm pacing for patients with
Central Hypoventilation. Interested persons may wish to contact:
Dr. J. Elefteriades
Cardiothoracic Surgery
121 FMB
333 Cedar St.
New Haven, CT 06510
(203) 785-2705
to see if further patients are needed for this research.
This disease entry is based upon medical information available through
January 1992. Since NORD's resources are limited, it is not possible to keep
every entry in the Rare Disease Database completely current and accurate.
Please check with the agencies listed in the Resources section for the most
current information about this disorder.
Resources
For more information on Congenital Central Hypoventilation Syndrome, please
contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
CCHS Parent Network
71 Maple St.
Oneonta, NY 13820
Dr. William Tamborlane, Jr.
Professor of Pediatrics
Pediatric General Clinical Research Center
Yale University School of Medicine
333 Cedar St.
New Haven, CT 06510-8064
NIH/National Institute of Neurological Disorders & Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
(800) 352-9424
NIH/National Institute of Child Health and Human Development (NICHD)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5133
References
THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme
Research Laboratories, 1987. P. 1380.
CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H.
Smith, Jr., Eds.: W. B. Saunders Co., 1988. P. 111.