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]

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]

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. [jmedicalcasereports.com]

• 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. [jmedicalcasereports.com]

• 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 [dx.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. [dx.doi.org]

• 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 [dx.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 [dx.doi.org]

• 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]

• Hemianesthesia

  On admission, his Blood Pressure (BP) was 163/74 mmHg, and the neurologic examination revealed dysarthria, left facial and right body hemianesthesia, and positive bilateral Babinski sign. [alliedacademies.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]

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]

Treatment Options for Ondine’s Curse A single treatment is not available for CCHS, but doctors put together different courses of surgeries for the symptoms present in the patient they are treating. [halffullnotempty.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]

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]

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]

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]

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]

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

More researches are needed to elucidate its epidemiology, etiology, clinical characteristic, treatment and prognosis. [alliedacademies.org]

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

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]

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]

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]

[…] 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]

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]

Although the pathophysiology of this syndrome remains unclear, an autoimmune hypothesis has been proposed for ROHHAD. [elsevier.es]

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

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]

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