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Central hypoventilation syndrome

Central Hypoventilation Syndrome (CHS) Overview – Signs and symptoms: – Associated with respiratory arrests during sleep – Linked to neuroblastoma, Hirschsprung disease, dysphagia, and pupillary […]

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Central Hypoventilation Syndrome (CHS) Overview
– Signs and symptoms:
– Associated with respiratory arrests during sleep
– Linked to neuroblastoma, Hirschsprung disease, dysphagia, and pupillary anomalies
– Other symptoms include skin darkening, drowsiness, fatigue, headaches, and sleep difficulties
– Patients are sensitive to sedatives and narcotics
– Complications may involve pulmonary hypertension, seizures, developmental delays, and fainting

Causes and Diagnosis of Central Hypoventilation Syndrome
– Causes:
– Typically congenital but can result from severe brain or spinal trauma
– Linked to conditions like Parkinson’s disease, multiple system atrophy, and multiple sclerosis
– PHOX2B gene mutations are associated with the syndrome
– Previously classified as a neurocristopathy
– Brainstem regulation of breathing studied in patients with CHS
– Diagnosis:
– Life-threatening apnea episodes in newborns
– Impaired responses to hypercapnia and hypoxia
– Polysomnography shows hypoventilation during sleep
– PHOX2B mutations found in a significant percentage of cases
– Collaboration between neurologists and pulmonologists in diagnosis

Treatment Options for Central Hypoventilation Syndrome
– Treatment:
– Tracheostomy and mechanical ventilation often required
– Alternative treatment with biphasic cuirass ventilation
– Oxygen therapy and respiratory stimulants used
– Challenges with long-term ventilator use
– Diaphragm pacing as an alternative to mechanical ventilation

Prognosis and History of Central Hypoventilation Syndrome
– Prognosis:
– Most CCHS cases do not survive infancy without ventilatory assistance
– Diaphragm pacing offers an alternative to mechanical ventilation
– Late Onset CCHS cases have different survival rates
– Ventilator-associated risks include infections and pneumonia
– History:
– First described in 1962 by Severinghaus and Mitchell
– Linked to surgery on the upper cervical spinal cord and brainstem

Etymology and References of Central Hypoventilation Syndrome
– Etymology:
– Name derived from the story of Ondine and Hans
– Controversies in medical literature regarding the name’s origin
– Misunderstandings of the plot of ‘Ondine’ in relation to the diagnosis
– References:
– Various studies and cases related to CHS
– External links for classification and citations for further reading

Central hypoventilation syndrome (Wikipedia)

Central hypoventilation syndrome (CHS) is a sleep-related breathing disorder that causes ineffective breathing, apnea, or respiratory arrest during sleep (and during wakefulness in severe cases). CHS can either be congenital (CCHS) or acquired (ACHS) later in life. The condition can be fatal if untreated. CCHS was once known as Ondine's curse.

Central hypoventilation syndrome
Other namesOndine's curse, primary alveolar hypoventilation, alveolar hypoventilation secondary to neurologic disease, idiopathic acquired central hypoventilation syndrome
Ondine by John William Waterhouse (1849–1917)
SpecialtyNeurology Edit this on Wikidata

ACHS can develop as a result of severe injury or trauma to the brain or brainstem. Congenital cases are very rare and involve a failure of autonomic control of breathing. In 2006, there were only about 200 known cases worldwide. As of 2008, only 1000 total cases were known. The diagnosis may be delayed because of variations in the severity of the manifestations or lack of awareness in the medical community, particularly in milder cases. However, as there have been cases where asymptomatic family members also were found to have CCHS, it may be that these figures only reflect those found to require mechanical ventilation. In all cases, episodes of apnea occur in sleep, but in a few patients, at the most severe end of the spectrum, apnea also occurs while awake.

Although rare, cases of long-term untreated CCHS have been reported and are termed late onset CCHS (LO-CCHS). There have, however, even been cases of LO-CCHS where family members found to have it have been asymptomatic. Again, lack of awareness in the medical community may cause such a delay. CCHS susceptibility is not known to be affected by sex or race.

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