Abstract Congenital central hypoventilation syndrome (CCHS) typically presents in the newborn period. [ncbi.nlm.nih.gov]

• Sudden Infant Death Syndrome

  Similarly, more recent evidence suggests that sudden infant death syndrome is also a disorder of autonomic regulation. [ncbi.nlm.nih.gov]

  infant death syndrome, congenital central hypoventilation syndrome, and Rett syndrome. [emedicine.medscape.com]

  Researchers believe that some cases of sudden infant death syndrome (SIDS) or sudden unexplained death in children may be caused by undiagnosed CCHS. Causes Mutations in a gene called PHOX2B cause CCHS. [medlineplus.gov]

• Fever

  During hospitalization, the patient experienced high fever and a decline in the level of consciousness. She was admitted to the intense care unit (ICU) and treated with non-invasive mechanical ventilation (NIV) support within the first 48hours. [journalpulmonology.org]

  Six minutes after delivery, and after a vigorous cry, the patient developed respiratory distress and fever, requiring neonatal intensive care unit (NICU) admission. Upon NICU admission, empirical antibiotics were initiated. [cureus.com]

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

• Hypersomnia

  He suffered from recurrent pulmonary edema, acute convulsive seizures, hypersomnia, hyperphagia, obesity, impaired glucose tolerance test, and hypercapnia, diagnosed as LO-CHS/HD, and was successfully treated with nasal bi-level positive airway pressure [ncbi.nlm.nih.gov]

• Pathologist

  There may be an effect on speech, and a referral to a speech language pathologist is recommended. The patient and family will require more intensive family education and support for ventilation via tracheostomy, as compared to other modalities. [tandfonline.com]

• Vomiting

  In 2015, the patient was hospitalized due to a three-day history of throbbing headache, sonophobia, photophobia, nausea and vomiting. [journalpulmonology.org]

  […] blood pressure instability, impairment in temperature perception, sense of taste, and ability to swallow, as well as ataxia.32 Individuals with FD are prone to developmental abnormalities, renal disease, and left ventricular hypertrophy, in addition to vomiting [ncbi.nlm.nih.gov]

• Nausea

  In 2015, the patient was hospitalized due to a three-day history of throbbing headache, sonophobia, photophobia, nausea and vomiting. [journalpulmonology.org]

• Cyanosis

  CASE PRESENTATION: Case 1: A Thai baby girl showed symptoms of apnea and cyanosis from birth and required invasive mechanical ventilation via tracheostomy during sleep. [ncbi.nlm.nih.gov]

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

• Sweating

  An individual with CCHS also has a poorly regulated autonomic nervous system, a system in the body that regulates not only breathing but also heart rate, sweating, temperature regulation, pupil size and more. [luriechildrens.org]

  They also have decreased perception of pain, low body temperature, and occasional episodes of heavy sweating. People with CCHS may have additional problems affecting the nervous system. [malacards.org]

  Other symptoms may include cardiac arrhythmias, temperature instability, profuse sweating, and diminished reactivity of the pupils. [ggc.org]

  […] summarized in Table 1.4–9 Only one had a mis-sense mutation in exon 1 at position c.202G > T, which results in a substitution from glycine to cysteine (Gly68Cys) in the PHOX2B protein.9 That child reportedly had CCHS pheno-type associated with profuse sweating [jcsm.aasm.org]

• Hunger

  Abstract Central hypoventilation syndrome (CHS) is a rare condition characterized by hypoventilation during sleep, reduced ventilatory responsiveness to CO(2) and O(2), impaired perception of air hunger, and autonomic abnormalities. [ncbi.nlm.nih.gov]

Diagnostic workup for pulmonary, cardiac, metabolic, sepsis and structural CNS diseases were negative. In view of persistent hypoventilation despite raised pCO(2) levels in absence of any sedation, the diagnosis of Idiopathic. [ncbi.nlm.nih.gov]

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]

Septic workup came out negative. Chest X-ray exhibited multiple infiltrates involving both lung fields, mainly in the perihilar area (Figure 1). Echocardiography showed patent foramen ovale with a bidirectional shunt, otherwise normal (Figure 2). [cureus.com]

There are no standardized protocols for the treatment of paraneoplastic brainstem encephalitis however, as in the present case, surgical resection and oncological treatment of the tumor is the first line treatment. [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]

Once the diagnosis of PML was confirmed, treatment with eculizumab was replaced with everolimus. Clinical improvement was noticed with the new treatment. [journalpulmonology.org]

In addition to the history of the disease and clinical manifestations, genetics and prognosis of children with CCHS will be discussed. Two cases are presented for illustration of hospital course and preparation for discharge. [ncbi.nlm.nih.gov]

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]

Prognosis is variable and depends on the specific location of the lesion, and recovery is usually unpredictable. [hindawi.com]

PURPOSE: Prolonged postoperative hypoventilation presents a challenge to anesthesiologists with regard to assessing etiology and related treatment. [ncbi.nlm.nih.gov]

Historical note and terminology Congenital central alveolar hypoventilation syndrome was first described in 1970, and the genetic etiology was finally elucidated in 2003 (Mellins et al 1970; Amiel et al 2003). [medlink.com]

Epidemiologic survey of 196 patients with congenital central hypoventilation syndrome. Pediatr Pulmonol. 2004;37:217-29. [ Links ] 10 Trang H, Dehan M, Beaufils F, Zaccaria I, Amiel J, Gaultier C. [scielo.br]

The exact epidemiology is unknown, but in the international literature there are almost 300 reported cases and an incidence of 1/200,000 live newborns have been reported in France2. [elsevier.es]

Epidemiologic survey of 196 patients with congenital central hypoventilation syndrome. Pediatr Pulmonol. 2004;37:217–29. Article PubMed Google Scholar Zelko FA, Nelson MN, Leurgans SE, Berry-Kravis EM, Weese-Mayer DE. [ojrd.biomedcentral.com]

Epidemiologic survey of 196 patients with congenital central hypoventilation syndrome. Pediatr Pulmonol, 37 (2004), pp. 217-229 [9] J. Amiel, B. Laudier, T. Attie-Bitach, H. Trang, L. de Pontual, B. Gener, et al. [analesdepediatria.org]

Epidemiologic survey of 196 patients with congenital central hypoventilation syndrome. Pediatr Pulmonol. 2004;37(3):217–29. [PubMed] [Google Scholar] 25. Fishman LS, Samson JH, Sperling DR. Primary alveolar hypoventilation syndrome (Ondine's Curse). [ncbi.nlm.nih.gov]

Recent reports have identified a similar clinical presentation beyond infancy called late-onset central hypoventilation syndrome (LO-CHS) as a disease continuum of CCHS with similar and overlapping pathophysiology. [ncbi.nlm.nih.gov]

CSA and hypoventilation syndromes are often considered separately, but pathophysiological aspects frequently overlap. An integrative approach helps to recognize underlying pathophysiological mechanisms and to choose adequate therapeutic strategies. [karger.com]

Pathophysiology of hypoventilation in CCHS is not clear yet. [frontiersin.org]

Obesity prevented successful DP without tracheostomy in 1 patient, and upper airway obstruction prevented success in another patient. [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]

Clinically, normalization of plasma lactate by a high-lipid diet did not prevent slowly progressive neurologic decline. [pediatrics.aappublications.org]

Central hypoventilation syndrome prevents the body from detecting increased carbon dioxide levels, meaning that it will not increase the breathing rate. The lack of necessary breathing can result in hypoxemia (a low level of oxygen in the blood). [columbiasurgery.org]

Use of tracheostomy tubes without balloon is recommended to allow for a leak sufficient for the use of a Passy–Muir® valve that stimulates development of speech and prevents subglottic stenosis. [elsevier.es]