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Ondine Syndrome

Alveolar Hypoventilation Primary


Presentation

  • , 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[dx.doi.org]
  • 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[99nicu.org]
  • Abstract A 70-year-old man presented with unilateral lateral medullary infarction, and then died of rapidly progressive respiratory failure within a day.[ncbi.nlm.nih.gov]
Pallister-Hall Syndrome
  • Disease Type of connection Hirschsprung disease Haddad syndrome Waardenburg-Shah syndrome Neuroblastoma WAGR syndrome Pilocytic astrocytoma Autosomal dominant nonsyndromic intellectual deficit Fuchs endothelial corneal dystrophy Pallister-Hall syndrome[csbg.cnb.csic.es]
Excessive Daytime Sleepiness
  • No patient or healthy subject complained of insomnia, restless legs syndrome, nightmares, nocturia, morning headache, morning fatigue, daytime fatigue, excessive daytime sleepiness and need for a daytime nap.[ojrd.biomedcentral.com]
Sleep Disturbance
  • Sleep disturbances in neurodevelopmental disorders. Curr Psychiatry Rep. 2016;18(1):6. View Article PubMed Google Scholar Saiyed R, Rand CM, Carroll MS, Koliboski CM, Stewart TM, Brogadir CD, Kenny AS, Petersen EK, Carley DW, Weese-Mayer DE.[ojrd.biomedcentral.com]

Treatment

  • Drug treatment still needs further study; the long-term effect was still not good. e-Published: 16 Nov, 2015[mona.uwi.edu]
  • The disease is fatal if left untreated, and every bit of information on a patient’s experiences and treatment can help specialists find the next step in their treatment plans.[healthery.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).[neonatalicu.blogspot.com]
  • In addition to summarizing basic science and important technological aspects of diagnosis and treatment, this edition presents new chapters—on sleep and memory consolidation, neuroimaging, and more—in a color layout that makes it easy to access the latest[books.google.com]
  • The treatment of central hypoventilation consists of ventilatory support, but there were also attempts of medicamentous treatment with the common aim of raising alertness and reactibility of the automatic breathing center.[unboundmedicine.com]

Prognosis

  • The disease prognosis is poor. The treatment of this disease is difficult and the use of mechanical ventilation and diaphragm pacing therapy might exhibit some short-term efficacy.[mona.uwi.edu]
  • Other associated features: esophageal dysmotility sensorineural hearing defect neuroblastoma or ganglioneuroma Treatment and prognosis The respiratory symptom is detected on the first day of birth with the patient quickly given ventilatory support while[radiopaedia.org]
  • ROHHADNET A photograph of a child who has been diagnosed with ROHHAD Symptoms rapid onset obesity, hypothalamic dysfunction, hypoventilation, autonomic dysfunction, neuroendocrine tumors, behavior problems Usual onset 1.5-11 years of age Causes unknown Prognosis[en.wikipedia.org]
  • Prognosis The prognosis is more guarded in the multiple system atrophy patient than in pure autonomic failure. It is rare for a patient to survive 10 years.[ww2.mc.vanderbilt.edu]
  • Currently, problems arise with the extended use of ventilators, including fatal infections and pneumonia. [18] Prognosis [ edit ] Most people with CCHS (unless they have the Late Onset form) do not survive infancy, unless they receive ventilatory assistance[en.wikipedia.org]

Etiology

  • Presentations highlighted the progress made in understanding the etiology and molecular mechanisms of phox2b.[cchsnetwork.org]
  • 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]
  • The later ROHHAD is diagnosed, the greater the risk for behavioral problems due to hypoxia from hypoventilation or during cardiopulmonary arrest. [3] Etiology [ edit ] The etiology of ROHHAD is currently unknown, and the condition is diagnosed based on[en.wikipedia.org]
  • 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]

Epidemiology

  • 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]
  • 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]
  • 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]
  • 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]
  • Epidemiologic Survey of 196 Patients With Congenital Central Hypoventilation Syndrome. Pediatr Pulmonol. 2004;37(3):217-29. Liess BD, Dost JS, Templer JW, Tobias JD.[medigraphic.com]
Sex distribution
Age distribution

Pathophysiology

  • 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]
  • The observation that fetal breathing movements are normal in the fetus with CCHS offers an insight into some aspects of the primary pathophysiology of the condition.[nature.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]
  • Targeted disruption of these genes in mice has provided information on the pathophysiological mechanisms underlying CCHS.[doi.org]

Prevention

  • 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]
  • Central Hypoventilation Syndrome Prevention Since the disease is often congenital, it is often unpredictable and therefore non-preventable.[healthery.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).[neonatalicu.blogspot.com]
  • […] edit ] As the cause of ROHHAD is unknown, there is no way to prevent onset of the disease. [16] Management [ edit ] There is no known cure for ROHHAD, therefore treatment for the disease involves managing symptoms as they manifest in the patient.[en.wikipedia.org]

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