Posted January 18, 201213 yr Kind regards to all. In the NICU of our hospital in the city of Quito, we hospitalized 72 days for a girl who have diagnosed a Congenital Central Hypoventilation Syndrome (‘Ondine’s curse). Almost every day of his life has been connected to a mechanical ventilator. We want to know if anyone has any suggestions as to its management. Sincerely, Fernando Agama C. Unidad de Neonatología Hospital "Dr. Enrique Garcés" Quito-Ecuador
January 18, 201213 yr Couple years ago I have diagnosed CCHS. It was clinical diagnosis not confirmed by genetic test. There is no pharmacological treatment, but I had good results with caffeine citrate. Long term treatment inculded tracheostomy and home respiratory support during sleep. When patient was not sleeping, he was breathing spontaneously. I've read about implantation of diaphragamic pacemaker. Visit http://www.cchsnetwork.org or http://www.undinesyndrom.de (only in deutch) for more information Jacek Czop Szpital Konin Poland
January 18, 201213 yr I have no personal experience but have also heard that caffeine may improve the respiratory drive. From what I heard, CPAP/BIPAP or tracheal canulation + mech vent is needed during sleep. I am curious to hear more about presentation and how you set the diagnostis.
January 20, 201213 yr We had a boy who spent years in PICU, only last year he was discharged home with home ventilation. The reason for long stay was that he was a from a mountainous area where access to medical facilities. Soon after birth he started having recurrent apnoea, completely investigated, then underwent tracheostomy and ventilatory support (BiPAP) during the night everyday. Nutrition was taken care of. He has moderate intellectual disabilty and speech disabilty, his only way of communication being through gestures and voices. He has hyperactive behaviour with mild temper tantrums. Is it all part of his disease complex or due to his long stay in PICU?! He had infrequent seizures, was not put on long term anticonvulsants. He has had episodes of lower respiratory infections which were treated with antibiotics and chest physio. In one incident he had swallowed a water bottle cap and had to be removed endoscopically.
January 20, 201213 yr Author Guadalupe (“Lupita”): She is a two and half moths old baby, Who was born in our Hospital “Dr. Enrique Garces” located in Quito Ecuador on November 06 of 2011, product of the second gestation to a healthy mother of 27 year old and a father of 34 years of age, both with no significant medical history records but apparently they are distant cousins. Our patient, initially, presented following an uncomplicated delivery weighing 2000 g, height: 42 cm and a good Apgar score (7’ – 8’) and good adaptation to the extrauterine environment; at the age of 48 hours the newborn presents hypotonia, poor respiratory effort, and hypoxemia that required ventilatory support. Laboratory work up and radiographic evaluation initially suggests an intrauterine infection such as pneumonia, so antibiotic treatment was started. But since then after several attempts to weaning the mechanical ventilator all failed. Despite the infectious process was controlled, metabolic disorders were ruled out, STORCH was all negative, neurologic evaluation was normal, TAC with no abnormality, we have the strong suspicious that our patient got Ondine's syndrome also called congenital central hypoventilation syndrome (CCHS) or primary alveolar hypoventilation, because we notice that the apneas are present when she fall sleep deeply on a sleep stage REM, and all respiratory functions decline dramatically, presents hypoxia, the pCO2 reaches very high levels (over 70 mmHg) without any patient response; at that moment is when the patient needs ventilatory support. This way Lupita has been living this two and half month with chronic ventilatory support….. The diagnosis was purely clinical and by exclusion. In our country not available genetic testing. Dr. Fernando Agama C. Unidad de Neonatología Hospital "Dr. Enrique Garcés Quito-Ecuador
January 22, 201213 yr I made a post to register on this site because of the above thread requesting information on Congenital Central Hypoventilation Syndrome. I have a child/adult now with CCHS and Hirschsprung's Desease (22 year old) and I am also on the board of the CCHS Family Network http://www.cchsnetwork.org/literature. My son is one of the most difficult cases seen and has also been one of the most successful http://www.youtube.com/watch?v=yIvZIVmVPSs. I can be of help to the doctors asking for assistance with care by sending them to the noted resources. Have them go to the CCHS Family Network website and source the Thorasic Society's paper on care http://www.cchsnetwork.org/images/stories/PDF/literature/CCHS-ATS.pdf as well as other information and physicians specializing on CCHS in the United states and others in Europe. There are some genetic resources mention on the website as well. It is comprehensive as to testing, genetic testing, evaluation and care criteria for a successful outcome. We have a parents group on Facebook and other families are always willing to help. It is quite distressing that physicians are not making contact with the resources and success stories for this population. Monitoring of O2 but primarily CO2 is critical. Other associated conditions can be present and not necessarily found in each case. Genetic testing can help with predicting the likelihood of severity and associated conditions but not precise. Homecare is very possible with nursing support, family support and a good medical team. Healthy regards, Jan Harrison Edited January 22, 201213 yr by harrisonjanetteb
February 1, 201213 yr Very important to monitor CO2, both awake and asleep. If pCO2's are higher than mid 50's, you are not ventilating enough, and setting the baby up for pulmonary hypertension. We recently had a baby here..she was sent home at about 4 months of age, trach'ed, on a home vent and with a pulse ox. The home ventilators are not ideal for neonates here, so we couldn't send her home sooner, until she had 'grown into' the volume vent we had available. She is now almost 2, and doing beautifully. It is only recently that she has been able to spend more than a few minutes off of the vent. Diaphragmatic pacing will need to wait until she is much older.
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