We report a CCHS patient with severe presentation type, successfully treated by diaphragmatic pacing. [ijcasereportsandimages.com]

Fetal breathing movements were present for the majority of the time during rapid eye movements but occasionally present when rapid eye movements were absent. [nature.com]

Newcastle General Hospital, Westgate Road, Newcastle upon Tyne, UK; Robert.Bullock{at}nuth.nhs.uk Abstract Congenital central hypoventilation syndrome is a rare illness, which classically presents in the neonatal period; newborns present with shallow [emj.bmj.com]

• Epilepsy

  Children with CCHS may also have: Hirschsprung's disease 'blue-breath holding' episodes - where no breathing occurs for a time and the skin turns blueish fainting episodes epileptic or absence seizures (see entry Epilepsy ) heart rhythm disorders (see [contact.org.uk]

  Prevalence and immunological spectrum of temporal lobe epilepsy with glutamic acid decarboxylase antibodies. Eur J Neurol. 2012;19:827–833. [PubMed] [Google Scholar] 12. [ncbi.nlm.nih.gov]

  The editors and contributing authors are internationally recognized authorities who cover everything from sleep and ADHD, headaches, restless leg syndrome, parasomnias, hypersomnias, autism, brain tumors, epilepsy, traumatic brain injury, and other primary [books.google.com]

  Hamann was diagnosed with congenital central hypoventilation syndrome in her teens, after suffering from seizures that were, for a time, thought to be a symptom of epilepsy. [theglobeandmail.com]

  […] volume reduction Frequent - Stillbirth / neonatal death Occasional - Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Seizures / epilepsy [csbg.cnb.csic.es]

• Swelling

  This decreased serum tonicity leads to swelling of many brain cells, mainly astrocytes. [journal.chestnet.org]

  Symptoms include: Bluish coloration of the skin caused by lack of oxygen Daytime drowsiness Fatigue Morning headaches Swelling of the ankles Waking up from sleep unrested Waking up many times at night People with this disease are very sensitive to even [nlm.nih.gov]

  The presumed central hypoventilation was related to compression and swelling of the medulla, affecting both the ventral and dorsal respiratory groups of the autonomic breathing center. [hindawi.com]

  It is characterized by five signs, An acronym that may be used to remember the key symptoms is PRISH, for pain, redness, immobility, swelling. [wikivisually.com]

• Hypothermia

  Treatment improved bradycardia, somnolence, hypothermia, and the tendency to mild hypoglycaemia; behavioural disorders persisted. [elsevier.es]

  Not all ROHHAD patients will experience all of these symptoms, however they will have at least some of these issues. [3] Examples of autonomic dysfunction include hyperthermia, hypothermia, pupillary dysfunction, strabismus, chronic constipation, and [en.wikipedia.org]

  Autonomic dysregulation during sleep was not assessed in this study, and we therefore cannot exclude the hypothesis that autonomic abnormalities such as hypothermia occurred in the CCHS group. [ojrd.biomedcentral.com]

• Dyspnea

  Patients can voluntarily decrease pCO2 on demand PFT’s FEV1: normal VC: normal TLC: normal MVV: normal MIP/MEP: normal Exercise test: increase in pCO2 and decrease in pO2 CBC: polycythemia EMG/NCV: normal Clinical (asymptomatic or insidious onset) Dyspnea [mdnxs.com]

  REPORT OF A CASE A 53-year-old woman, admitted with recent onset of dyspnea and chest pain, had nutritional anemia and cirrhosis of the liver secondary to chronic alcohol abuse. [dx.doi.org]

  With acute respiratory infections, children with CCHS may not show a fever, increase their respiratory rate, or dyspnea. [dovepress.com]

• Respiratory Abnormalities

  Nevertheless, they have abnormal function of chemical respiratory control and dysgenesis of the petrosal chemoreceptors, which may underlie the neonatal respiratory phenotype ( 17 ) characterized by an abnormal duration of sleep apneas during the first [doi.org]

• Cyanosis

  General Hospital, Westgate Road, Newcastle upon Tyne, UK; Robert.Bullock{at}nuth.nhs.uk Abstract Congenital central hypoventilation syndrome is a rare illness, which classically presents in the neonatal period; newborns present with shallow breathing and cyanosis [emj.bmj.com]

  Affected infants hypoventilate upon falling asleep and exhibit a bluish appearance of the skin or lips (cyanosis ). [malacards.org]

• Heart Disease

  An excessive demand on the respiratory muscles leads to the perception of increased breathing effort and could unmask other associated respiratory and heart diseases. [emedicine.medscape.com]

  According to the previous reports, stroke patients with older age, male gender, night-time stroke onset, higher body mass index, diabetes, hypertension, coronary heart disease, excessive daytime sleepiness (higher Epworth sleepiness score) preceding stroke [alliedacademies.org]

• Hyperhidrosis

  […] hypoventilation 0007110 Constipation 0002019 Downslanted palpebral fissures Downward slanting of the opening between the eyelids 0000494 Feeding difficulties Feeding problems Poor feeding [ more ] 0011968 Hypercapnia High blood carbon dioxide level 0012416 Hyperhidrosis [rarediseases.info.nih.gov]

• Fear

  "My biggest fear is that when he's more aware he'll just commit suicide," he says in the film. [today.com]

  For the rest of his life, her husband is never brought the peace of sleep for fear he might die. The syndrome of Ondine’s curse is very similar. [aastweb.org]

  When the child is hooked up to a machine 24/7, the parents live in constant fear of not being around when the machine is unplugged and are obliged to remain vigilant during the child’s waking or sleeping hours. [humanium.org]

  Silvana said: 'If everything is silent, I still come to see her, because there's that fear. What if the machine fails?' [dailymail.co.uk]

  She said: “If everything is silent, I still come to see her, because there’s that fear. What if the machine fails?” Luckily Paula is still able to attend school, with the reassurance of portable ventilator equipment. [thesun.co.uk]

• Seizure

  Children with CCHS may also have: Hirschsprung's disease 'blue-breath holding' episodes - where no breathing occurs for a time and the skin turns blueish fainting episodes epileptic or absence seizures (see entry Epilepsy ) heart rhythm disorders (see [contact.org.uk]

  Those with CCHS are also at risk for cardiac pauses, cancer, GI dysfunction, seizures, and learning and behavioral issues. [cchsnetwork.org]

  Also known as the congential central alveolar hypoventilation syndrome, this disease is characterized by a severe, central seizure of the autonomic nervous system for breathing. [humanium.org]

  As repeated EEG still showed presence of seizure activity; the baby was started on diphenylhydantoin (Dilatin®). Brain MRI, HUS, BAER test and ophthalmology exams were all normal. [nature.com]

• Dysautonomia

  Dysautonomia progressed; the patient underwent pacemaker implantation due to severe sinus bradycardia at 6 months from discharge. [elsevier.es]

  A brainstem MRI should be performed as part of this workup.38–41 In addition to CCHS, other potential congenital conditions associated with central hypoventilation include familial dysautonomia, Mobius syndrome, Pitt Hopkins syndrome, Prader-Willi syndrome [tandfonline.com]

  Leurgans, Familial dysautonomia: Frequent, prolonged and severe hypoxemia during wakefulness and sleep, Pediatric Pulmonology, 43, 3, (251-260), (2008). [doi.org]

  Insensitivity to hypercapnia is the most constant finding, with a variable response to hypoxaemia.28 A recent report suggested that up to 30% of patients with Hirschsprung’s disease may have some form of dysautonomia (Staiano A,et al: Autonomic dysfunction [adc.bmj.com]

• Lethargy

  —A 3½-year-old white male (Fig 1, A and B) was in good health until nine months prior to admission, when he developed a voracious appetite and lethargy. [jamanetwork.com]

  […] decrease pCO2 on demand PFT’s FEV1: normal VC: normal TLC: normal MVV: normal MIP/MEP: normal Exercise test: increase in pCO2 and decrease in pO2 CBC: polycythemia EMG/NCV: normal Clinical (asymptomatic or insidious onset) Dyspnea: uncommon Fatigue/ lethargy [mdnxs.com]

  On the third day of life, the baby developed transient lethargy, poor suck and decreased muscle tone. Hematologic profile, blood chemistry and ammonia levels were normal. Blood and cerebrospinal fluid cultures were negative. [nature.com]

  If a child with CCHS has any explained problem such as seizure or lethargy, they should be stabilized with hyperventilation with 100% oxygen until the source of the problem can be identified. [dovepress.com]

  […] result in chronic hypoxia and hypercapnia, which impair neurodevelopment20; their prevention is an area for improvement that calls for maintaining a high level of surveillance in patients with unexplained clinical findings such as episodes of cyanosis, lethargy [analesdepediatria.org]

• Confusion

  Symptoms of hypoxemia can include confusion, shortness of breath, bluish skin tone and purpling of the lips The condition can be fatal if left untreated. [columbiasurgery.org]

  Such errors led to confusion in defining the medical condition.[22] See also[edit] Our Curse, an Oscar-nominated 2013 short documentary film about a child with Ondine's curse References[edit] ^ Jazeela Fayyaz, DO (2017-12-05). [en.wikipedia.org]

  Sleep is sometimes confused with unconsciousness, but is different in terms of the thought process. [wikivisually.com]

• Sleep Disturbance

  You can also use the journaling technique to monitor overall sleep pattern and quality, by using “Sleep Monitor Journal” Another great book is “The Effortless Sleep Method” “Treating Sleep Problems: A Transdiagnostic Approach” addresses sleep disturbances [halffullnotempty.com]

  Alternatively, patients with CCHS could be more isolated from noises and external disturbances that prolong sleep onset latency. [ojrd.biomedcentral.com]

Laboratory workup, radiographic evaluation, and ancillary testing ruled out brain stem lesions, neuromuscular diseases, cardiovascular and pulmonary disease, and metabolic disorders, resulting in a diagnosis of CCAH syndrome. [journals.sagepub.com]

A brainstem MRI should be performed as part of this workup.38–41 In addition to CCHS, other potential congenital conditions associated with central hypoventilation include familial dysautonomia, Mobius syndrome, Pitt Hopkins syndrome, Prader-Willi syndrome [tandfonline.com]

Her subsequent genetic workup revealed that she had the autosomal dominant condition. She was heterozygous for 33 Polyalanine Repeats in the PHOX2B gene, specifically 20 repeats at one allele and 33 repeats at the other (Table 1). [scitechnol.com]

[…] tomography (CT) scanning Diaphragm fluoroscopy, ultrasonography, or both Echocardiography Comprehensive testing for neuromuscular disorders and inborn errors of metabolism Serial monitoring of complete cell blood (CBC) counts Blood gas analysis See Workup [emedicine.medscape.com]

Recently, a new drug treatment (desogestrel) for CCHS patients– in order to improve CO 2 chemosensitivity– was reported. [ijcasereportsandimages.com]

These events are also an opportunity to invite CCHS physicians and researchers to share their insight on research and treatments. Group details last updated March 2018. [contact.org.uk]

Early diagnosis and treatment are important to prevent serious complications caused by periods of low or no oxygen. Treatment focuses on providing breathing support, usually through the use of a respirator (ventilator). [verywellhealth.com]

The number of such cases has been increasing as better treatment has allowed more affected individuals to live into adulthood and start families. [ghr.nlm.nih.gov]

Therefore, the prognosis depends on adequate treatment of the underlying tumor. [emedicine.medscape.com]

Other associated features: esophageal dysmotility sensorineural hearing defect Treatment and prognosis The respiratory symptom is detected on the first day of birth with the patient quickly given ventilatory support while the Hirschsprung disease is confirmed [radiopaedia.org]

Early diagnosis is of great importance to provide appropriate management to prevent the acute and chronic asphyxia that determines the long-term prognosis of this disease. [pubmed.ncbi.nlm.nih.gov]

Presentation at a later age makes management easier, and, subsequently, the prognosis may be more optimistic. [pediatrics.aappublications.org]

Prognosis Children with CCHS are able to lead active lives but need close supervision while swimming or playing in pools, since their bodies may “forget” to breathe while underwater. [hopkinsmedicine.org]

Therefore, the prognosis depends on adequate treatment of the underlying tumor. [emedicine.medscape.com]

It has been used by our group in 21 patients of various etiologies, all successfully. The youngest patient implanted in Brazil –the patient in this study– was 15 months old at the time of implantation and is progressing successfully. [ijcasereportsandimages.com]

Etiology Mutations in the PHOX2B gene are found in a significant number of patients with Haddad syndrome. The documents contained in this web site are presented for information purposes only. [orpha.net]

Presentations highlighted the progress made in understanding the etiology and molecular mechanisms of phox2b. [cchsnetwork.org]

Give information about Congenital central hypoventilation syndrome and the other hydiopathic syndromes with central hypoventilation, implementation of a European CHS register (EU-CHS register),as a critical mass of patients is required for high-quality epidemiological [ichsnetwork.eu]

Epidemiology Rare disorder Predisposing factors: Sex: M>F Peak age: aged 20-50 (but can occur at any age) Familial cases: have been reported Definition: idiopathic hypoventilation in the absence of any neuromuscular disease or mechanical ventilatory defect [mdnxs.com]

Summary Epidemiology Birth incidence of Ondine syndrome is 1 in 200,000 live-births and Hirschsprung disease occurs concurrently in 16% of cases. [orpha.net]

Central congenital hypoventilation syndrome - Congenital central alveolar hypoventilation syndrome - Ondine curse Classification (Orphanet): - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological [csbg.cnb.csic.es]

It is an autosomal dominant disease derived from a heterozygous PHOX2B gene mutation, present in 90 % of patients, but its pathophysiological cause has not been elucidated yet. [medigraphic.com]

Feldges Medicine Schweizerische medizinische Wochenschrift 1977 The cases are described of a 10-year-old girl and her mother who both showed the typical clinical and pathophysiological symptoms of primary hypoventilation (Ondine's curse), suggesting that [semanticscholar.org]

We propose here a large database describing concisely pathophysiological and anesthetic aspects of syndromes and rare childhood diseases. It is updated monthly but not peer-reviewd. [sites.uclouvain.be]

Pathophysiology Ondine Syndrome is most likely caused by a heterozygous mutation—either a polyalanine repeat mutation or nonpolyalanine repeat mutation—in the paired-like homeobox2B (PHO2XB) gene on chromosome 4p13. [accesspediatrics.mhmedical.com]

[…] heart rate variability and increased heart rate recorded in a fetus throughout the third trime-non turned out to be rare prenatal manifestations of a case of Ondine’s curse (chronic central alveolar hypoventilation syndrome), a disorder of still unclear pathophysiology [karger.com]

Early diagnosis is of great importance to provide appropriate management to prevent the acute and chronic asphyxia that determines the long-term prognosis of this disease. [pubmed.ncbi.nlm.nih.gov]

Early diagnosis and treatment are important to prevent serious complications caused by periods of low or no oxygen. Treatment Treatment focuses on providing breathing support, usually through the use of a respirator, or ventilator. [hopkinsmedicine.org]

Medicine and External Consultation Preventive Medicine Program External Consultation Cardiology Oncology Center Oncology Radiology Portoazul Baby Plan Health Bulletin Specialties Patient Guide Find everything in one place Map of the Clinic Rights and [clinicaportoazul.com]

Early diagnosis and treatment are important to prevent serious complications caused by periods of low or no oxygen. Treatment focuses on providing breathing support, usually through the use of a respirator (ventilator). [verywellhealth.com]

There is no known prevention. You should avoid using sleep medicines or other drugs that can cause drowsiness. Ondine's curse; Ventilatory failure; Diminished hypoxic ventilator drive; Diminished hypercapnic ventilator drive Cielo C, Marcus CL. [nlm.nih.gov]