Failure of Automatic Control of Ventilation (Ondineʼs Curse)

Mellins, Robert B.; BALFOUR, HENRY H.; TURINO, GERARD M.; Winters, Robert W.

doi:10.1097/00005792-197011000-00003

Cited by 329 publications

(73 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Analeptics have been used in many cases [2], but generally, respirato ry stimulants including progesterone, aminophylline. Nikethamide, Ethamivan, dextroamphetamine, Micoren, lobeline, caffeine, adrenalin and salicylates were found ineffective for prolonged use and sometimes dangerous [4,5,8], Mechanical and auditory stimuli and hypnotic suggestion have been tried, again without long-term success [22], Ventilatory assistance is indi cated when other methods have failed and may be required only tempo rarily, as with heart failure, when it may restore compensation [23].…”

Section: Therapy and Prognosismentioning

confidence: 99%

Impaired Central Chemoreceptor Function and Chronic Hypoventilation Many Years Following Poliomyelitis

Solliday¹,

Gaensler²,

Schwaber³

et al. 1974

Respiration

View full text Add to dashboard Cite

A 41-year-old slender female who had led an active life presented with heart failure. Some months later she became comatose with severe hypercapnia and hypoxemia following a mild sedative and antihistaminic. Studies demonstrated normal respiratory and cardiac mechanics, a normal peripheral and an absent central chemoreceptor response. Ventilatory response to exercise was normal. Hypercapnia and hypoxemia were reversed by voluntary hyperventilation and became more severe during sleep. We suggest that central chemoreceptor function was damaged by bulbar poliomyelitis 20 years earlier. Overt cardio-respiratory failure did not become evident until the respiratory center had been further depressed by recent alcohol consumption and sedatives at night

show abstract

Section: Therapy and Prognosismentioning

confidence: 99%

Impaired Central Chemoreceptor Function and Chronic Hypoventilation Many Years Following Poliomyelitis

Solliday¹,

Gaensler²,

Schwaber³

et al. 1974

Respiration

View full text Add to dashboard Cite

show abstract

“…1 Amiel et al, Sasaki el al., and Weese-Mayer et al identifi ed the paired-like homeobox 2B (PHOX2B) gene mutation in CCHS patients. [2][3][4] Subsequently, Weese-Mayer and colleagues identifi ed mutations in exon 3 of the PHOX2B gene in all patients with the CCHS phenotype.…”

Section: A S E R E P O R T Smentioning

confidence: 99%

“…C ongenital central hypoventilation syndrome (CCHS), which was fi rst described by Mellins et al in 1970, is a rare congenital disease characterized by hypoventilation. 1 Amiel et al, Sasaki el al., and Weese-Mayer et al identifi ed the paired-like homeobox 2B (PHOX2B) gene mutation in CCHS patients.…”

Section: A S E R E P O R T Smentioning

confidence: 99%

A Case of Congenital Central Hypoventilation Syndrome with a Novel Mutation of the PHOX2B Gene Presenting as Central Sleep Apnea

Amimoto

Okada

Nakano

et al. 2014

Journal of Clinical Sleep Medicine

View full text Add to dashboard Cite

Congenital central hypoventilation syndrome (CCHS) is a rare disease characterized by abnormal autonomic control of breathing resulting in hypoventilation. We report an infant girl with CCHS who presented with central sleep apnea, which was fi rst demonstrated by polysomnography when the infant was 5 months old. She was heterozygous for the novel 590delG mutation of PHOX2B, which is classifi ed as a non-polyalanine repeat mutation (NPARM). This mutation is considered to be associated with a relatively mild phenotype. 2-4 Subsequently, Weese-Mayer and colleagues identifi ed mutations in exon 3 of the PHOX2B gene in all patients with the CCHS phenotype.5 Currently, identifi cation of a PHOX2B mutation is required to confi rm the diagnosis of CCHS. CCHS patients characteristically demonstrate alveolar hypoventilation with diminutive tidal volumes and monotonous respiratory rates during sleep, and in severe cases, also during wakefulness.5 Affected individuals have diffuse autonomic nervous system dysregulation (ANSD), with anatomical manifestations such as the risk of tumor development. Mcconville et al. identifi ed two PHOX2B mutations (600delC, a frameshift mutation and G197D, a missense mutation) as a rare cause of non-syndromic neuroblastoma, which indicates that the underlying PHOX2B mutational mechanism infl uences the risk of tumor and suggests that the position of missense mutations may infl uence the resulting phenotype. We report an infant with CCHS who presented with central sleep apnea, which was fi rst demonstrated by polysomnography (PSG) when the infant was 5 months old. She was heterozygous for the novel 590delG mutation of PHOX2B. REPORT OF CASEThe patient was a 5-month-old girl delivered by Cesarean section performed for obstructed labor at 40 weeks of gestation without any other complication during pregnancy and delivery. The Apgar scores were 8 at 1 min and 9 at 5 min. She was born to healthy parents without consanguinity: a 33-year-old father and a 23-year-old mother. No relatives of either parent suffered from sleep disorders. Three of the infant's grandparents had undergone surgery under anesthesia without any problems of respiratory management. Neither the parents nor the siblings showed any signs of Hirschsprung disease, tumors of neural crest origin, or other symptoms suggestive of ANSD.The patient was admitted to NICU because of frequent episodes of respiratory arrest for a few seconds at the onset of sleep on the day of birth. There were no rales or heart murmurs. The muscle tone was good. Venous blood gas analysis revealed a PvCO 2 of 32.7 mm Hg in room air. There were no abnormalities on x-ray examination of the chest/abdomen, examination of the cerebrospinal fl uid, or ultrasound examination of the brain and heart. The patient was discharged from the NICU one month after birth under home oxygen therapy; supplemental oxygen by nasal cannula (2 L/m) during sleep with SpO 2 monitoring was prescribed at discharge. She was brought to the hospital in which she was born at 5 months of age wi...

show abstract

“…CCHS, first described in 1970 (12), is defined as failure of the metabolic (autonomic) control of breathing responsible for central alveolar hypoventilation in the absence of pulmonary, cardiac, or neuromuscular disorders, and without patent brainstem lesions (1,13). Although neonatal respiratory failure is the most common clinical picture, apneas and episodes of cyanosis are inaugural in some patients (1,13).…”

Section: Clinical Features and Genetic Factors In Cchsmentioning

confidence: 99%

Genetics and Early Disturbances of Breathing Control: The Genetics of Childhood Disease and Development: A Series of Review Articles

et al. 2004

View full text Add to dashboard Cite

Médicale, 75743 Paris, France [J.A., S.L.] Early disturbances in breathing control, including apneas of prematurity and apparently life-threatening events, account for some cases of sudden infant death syndrome and for a rare disorder called congenital central hypoventilation syndrome (CCHS). Data suggesting a genetic basis for CCHS have been obtained. Recently, we found heterozygous de novo mutations of the PHOX2B gene in 18 of 29 individuals with CCHS. Most mutations consisted of five to nine alanine expansions within a 20-residue polyalanine tract, probably resulting from nonhomologous recombination. Other mutations, generally inherited from one of the parents, in the coding regions of genes involved in the endothelin and RET signaling pathways and in the brain-derived-neurotrophic factor (BDNF) gene have been found in a few CCHS patients. Interestingly, all these genes are involved in the development of neural crest cells. Targeted disruption of these genes in mice has provided information on the pathophysiological mechanisms underlying CCHS. Despite the identification of these genes involved in breathing control, none of the genetically engineered mice developed to date replicate the full human CCHS respiratory phenotype. Recent insights into the genetic basis for CCHS may shed light on the genetics of other early disturbances in breathing control, such as apnea of prematurity and sudden infant death syndrome.

show abstract

Failure of Automatic Control of Ventilation (Ondineʼs Curse)

Cited by 329 publications

References 0 publications

Impaired Central Chemoreceptor Function and Chronic Hypoventilation Many Years Following Poliomyelitis

Impaired Central Chemoreceptor Function and Chronic Hypoventilation Many Years Following Poliomyelitis

A Case of Congenital Central Hypoventilation Syndrome with a Novel Mutation of the PHOX2B Gene Presenting as Central Sleep Apnea

Genetics and Early Disturbances of Breathing Control: The Genetics of Childhood Disease and Development: A Series of Review Articles

Contact Info

Product

Resources

About