Ondines curse syndrome

ondine's curse syndrome is a rare hypoventilation syndrome keads to death. it is called as congenital central hypoventilation syndrome (CCHS).

1. ondine’s curse syndrome kammam harish b.pharm

2. contents Definition Introduction Etymology Signs and symptoms Causes Inheritance pattern Diagnosis Treatment Conclusion References

3. DEFINITION 0ndine’s curse syndrome is a condition where a person can die when he falls asleep. It is a rare and lifelong severe form of sleep apnea in which the affected person will completely stop the breathing when falls asleep that may leads to death also. It is also known as congenital central hypoventilation syndrome or CCHS. It is usually congenital, means that is present from birth. 1

4. INTRODUCTION Ondine’s curse syndrome is a disorder that affects breathing, especially during sleep resulting in a shortage of oxygen and a build-up of carbon dioxide in the blood. A failure in the autonomic process of breathing results in the hypoventilation of disordered person. Ordinarily, autonomic nervous system controls the involuntary body process would react to such an imbalance by stimulating the individual to breath more deeply or wake up. It can develop as a result of severe injury of trauma to the brain stem 2

5. In 2006, there were only about 200 cases world wide. As of 2008, only 1000 cases are known and as per 2013 there 1500 to 2000 cases are identified as CCHS. CCHS was first discovered in 1962 by severinghaus and Mitchell in three patients after the surgery of upper cervical spinal cord and brainstem. The genetic etiology was finally elucidated in 2003

6. etymology Its name is a reference to the European mythological story of ondine and Hans..... The water spirit or mermaid lives in a sea whose name is Ondine. She loves a knight named Hans. One day they both were together Hans tells some lovable words to ondine that “I shall be the shoes of your feet....I shall be the breath of your lungs”. Ondine makes a pact with her uncle who is the king of the nymphs that if Hans ever deceives her or unfaithful to those words he will die. After some days, Hans is reunited with his first love princess bertha and ondine leaves Hans to be captured by a fisherman six months later

7. On meeting ondine again, on the day of his wedding to bertha, Hans tells her that “all the things my body once did itself, it does now only by special order..... A single moment of inattention and I forgot to breath”. Then she cursed that if he should fall asleep, he would forget to breathe. Eventually, he fell asleep from sheer exhaustion, and his breathing stopped . After which he dies

8. Signs and symptoms Infants born with CCHS may have the following symptoms: Poor breathing or complete lack of spontaneous breathing, especially during sleep. Abnormal pupils. Absent or impaired bowel function. Respiratory arrests during sleep. Dysphagia (difficulty in swallowing). In some cases, neuroblastoma occurs ( tumors of the sympathetic ganglia).

9. Other symptoms include : Darkening of skin colour due to inadequate amounts of oxygen. A low concentration of oxygen in the red blood cells also may cause “Hypoxia”. Drowsiness, fatigue, headaches, gastro- esophageal reflux, seizures, developmental delays, learning disabilities and episodes of fainting. people with this disorder have a characteristic appearance with a short, wide, somewhat flattened face often described as “box shaped”

10. causes A mutation in the PHOX2B gene is responsible for this disorder. PHOX2B, a transcription factor involved in the development of neurons, can be associated with this condition. It is located at chromosome 4p12 acts as highly conserved homeobox domain which encodes for a transcription factor that regulates neural crest cell migration, that is, autonomic nervous system neurons that controls Cardiovascular, digestive and respiratory systems.

11. Inheritance pattern This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. More than 90% of cases of CCHS result from new mutations(de novo) in the PHOX2B gene that there is no history of the disorder in their family. Occasionally an affected person inherits the mutation from one affected parent. About 5 to 10% of affected individuals inherit the mutation from an unaffected parent with somatic mosaicism Somatic mosaicism means that some of the body’s cells have a PHOX2B gene mutation, and others do not(egg or sperm cells). A parent with mosaicism for a PHOX2B gene mutation may not show any signs and symptoms of CCHS.

12. diagnosis Children with this syndrome develop life threatening episodes of apnea with cyanosis(bluish skin) in the first month of life. Medical evaluation excludes low levels of oxygen (hypoxia) in the blood circulation and impaired responses to build-up of carbon dioxide ( hypercapnia ) and also lesions in the brain, heart, and lungs. Polysomnography, a sleep study shows that hypoventilation is most marked during slow-wave sleep.

13. This polysomnogram or more sophisticated physiologic recordings awake and asleep can be used to look at breathing, oxygen saturation, and exhaled carbon dioxide levels during sleep and wakefulness. Often other testing is done as well to be sure that the breathing abnormality is not due to abnormalities with the lungs.

14. treatment People with ondine’s curse syndrome require tracheostomy and lifetime mechanical ventilation on a ventilator in order to survive. Other potential treatments include oxygen therapy and medicine for stimulating the respiratory system. MODES OF VENTILATORY SUPPORT:- Since CCHS patients generally have minimal lung disease, different modalities are available for ventilatory support. These include Positive pressure ventilation via tracheostomy. Non-invasive positive pressure ventilation. Diaphragm pasemaker .

15. 1.Portable positive pressure ventilator via tracheostomy

16. 2.Noninvasive positive pressure ventilation

17. 3.Diaphragm pacer

18. Conclusion ondine’s curse syndrome is characterised by loss of autonomic breathing. Such a syndrome has rarely been reported in adults and diagnostic criteria are not consensual. The diagnosis may be delayed because of lack of awareness in the medical community, thus any diagnostic confirmation should be flexible Sleep-apnoea should be closely monitored to prevent the occurrence of this syndrome. Timely treatment by mechanical ventilation can reduce the occurrence of fatal ondine’s curse syndrome.