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]

Case presentation We identified 10 individuals in a large extended Caucasian family of German and Austrian background with congenital central hypoventilation syndrome. Case 1: A 16-year old male proband presented for reproductive counseling. [jmedicalcasereports.com]

• Recurrent Bronchitis

  Case 5 (II-4) A 44-year-old paternal aunt had a childhood history of recurrent bronchitis and photophobia. [doi.org]

• Recurrent Abdominal Pain

  Case 7 (III-2) The 28-year old daughter of II-3, a paternal first cousin to the proband (III-3), had a history of recurrent abdominal pains and chronic constipation as a child. [doi.org]

• Ear Deformity

  […] with attached lobes; the case with the 4p12-15 deletion was described as having the left half of skull flattened, epicanthic folds and antimongoloid slant of eyes, ears deformed with broad slightly irregular flattened helix and fixed lobes, prominent [doi.org]

• Antimongoloid Slant

  slant of eyes, ears deformed with broad slightly irregular flattened helix and fixed lobes, prominent glabella, broad root of nose, asymmetry of shape of nose and localization of the nasal septum. [doi.org]

• Miosis

  Bilateral severe miosis is observed much more commonly than mydriasis, while the latter can occur with third cranial nerve palsy. Anisocoria is a common finding, but more in association with miotic pupils than mydriatic pupils. [ojrd.biomedcentral.com]

• Frontal Bossing

  Specifically, the case with a translocation comparable to a 4p12-13 deletion and Hirschsprung disease was described as having microcephaly, frontal bossing, prominent forehead, very short nose with slightly anteverted nostrils, high nasal bridge, prominent [doi.org]

• Short Nose

  Specifically, the case with a translocation comparable to a 4p12-13 deletion and Hirschsprung disease was described as having microcephaly, frontal bossing, prominent forehead, very short nose with slightly anteverted nostrils, high nasal bridge, prominent [doi.org]

• Enlarged Uterus

  Pregnancy may decrease ventilation due to the increased respiratory load from an enlarging uterus. Therefore, frequent monitoring to assess for adequate oxygenation and ventilation during both sleep and wakefulness is recommended in pregnancy. [dovepress.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]

• Spastic Paralysis

  Additional information This study was supported by Rush University Dean's Office Summer Research Fellowship and Sigma Xi Outstanding Rush Medical College Student Research Award (E.S.T.), Spastic Paralysis and Allied Diseases of the Central Nervous System [doi.org]

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]

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]

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]

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]

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]

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]

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

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. [ncbi.nlm.nih.gov]

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]

Genetic aspects, etiology and differential diagnosis are exposed. Create an AI-powered research feed to stay up to date with new papers like this posted to ArXiv [semanticscholar.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]

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]

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]

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]

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]

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]

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 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]

Central Hypoventilation Syndrome Prevention Since the disease is often congenital, it is often unpredictable and therefore non-preventable. [healthery.com]

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]

Functions of glomus cells combine O2 and glucose sensor to prevent neuronal damage by acute hypoxia and/or hypoglycemia. Carotid glomus cells derive from neural crest and CCHS is a disease of neural crest derivatives. [ashg.org]

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]