Total colonic aganglionosis (Zuelzer-Wilson syndrome) and congenital failure of automatic control of ventilation (Ondine's curse)

Odell, Kevin; Staren, Edgar D.; Bassuk, Angel

doi:10.1016/s0022-3468(87)80504-3

Cited by 46 publications

(19 citation statements)

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“…The syndrome is also known as Ondine's curse (online mendelian inheritance in man [OMIM] 209880). Similar cases have been reported by many investigators [2][3][4][5]. CCHS has been associated with several disorders, including neuroblastoma, ganglioneuroma, and, most frequently, Hirschsprung dis ease (HSCR) because of broader structural and functional impairments of the autonomic nervous system [6][7][8].…”

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confidence: 74%

Molecular genetics of congenital central hypoventilation syndrome and Haddad syndrome

Lee

Kim

2014

J Genet Med

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Section: Introductionsupporting

confidence: 74%

Molecular genetics of congenital central hypoventilation syndrome and Haddad syndrome

Lee

Kim

2014

J Genet Med

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“…Although HIR2 and CON2 datasets indicated no familiality, statistical evidence of heterogeneity between the results of HIRl and HIR2, or between CONl and CON2 was lacking. A SIDS incidence of 11.2/1,000 was documented among the relatives of CONl vs. 1.8/1,000 INTRODUCTION Idiopathic congenital central hypoventilation syndrome (CCHS) is a rare entity with fewer than 100 published cases [Becker and Takashima, 1985;Beckerman et al, 1986;Bower and Adkins, 1980;Coleman et al, 1980;Deonna et al, 1974;Ellis et al, 1987;Fleming et al, 1980;Folgering et al, 1979;Guilleminault et al, 1982;Haddad et al, 1978;Hamilton and Bodurtha, 1989;Hunt et al, 1978Hunt et al, ,1979Hunt et al, ,1988Khalifa et al, 1988;Liu et al, 1978;Marcus et al, 1991;Mellins et al, 1970;Minutillo et al, 1989;Nattie et al, 1975;Nielson and Black, 1990;O'Dell et al, 1987;Oren et al, 1986Oren et al, ,1987Paton et al, 1989;Ruth et al, 1983;Shannon et al, 1976;Silvestri et al, 1992;Stern et al, 1981;Swaminathan et al, 1989;Weese-Mayer et al, 1988Weese-Mayei-e t al., 1992a, b;Wells et al, 1980;Woo et al, 19921. Diagnosed in the absence of neuromuscular, lung disease, or an identifiable brainstem lesion, CCHS is cliaracterized by normal ventilation while the patient is awake but hypoventilation with normal respiratory rates and shallow breathing (diminished tidal volume) during sleep.…”

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confidence: 99%

Congenital central hypoventilation syndrome: Inheritance and relation to sudden infant death syndrome

et al. 1993

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We evaluated the families of 50 children with idiopathic congenital central hypoventilation syndrome (CCHS) to 1) test genetic hypotheses, 2) explore the relationship to Hirschsprung disease (HD), and 3) examine other clinical findings including sudden infant death syndrome (SIDS) in relatives of CCHS patients. A questionnaire was administered to parents of each proband to determine a detailed pedigree and medical history for 3 generations including 1,482 relatives. The data were analyzed under the unified mixed model method (assumes individual genotype composed of multifactorial [MF] and major locus [ML] components). Analysis was made of the Total dataset and on subdivided data sets: HIR1 = families of probands with HD (n = 8) vs. HIR2 = families of probands without HD; then under a premise that severe, chronic constipation may be a milder form of HD (i.e., ganglion cells present but dysfunctional), CON1 = families of probands with HD or constipation (n = 13) vs. CON2 = families of probands without HD or constipation. By statistical genetic analysis of the Total, HIR1, and CON1 datasets, the MF and ML hypotheses were about equally likely, with the MF model slightly more parsimonious. Although HIR2 and CON2 datasets indicated no familiality, statistical evidence of heterogeneity between the results of HIR1 and HIR2, or between CON1 and CON2 was lacking. A SIDS incidence of 11.2/1,000 was documented among the relatives of CON1 vs. 1.8/1,000 among relatives of CON2. Our results are consistent with familiality by either MF or ML models. Recurrence risk is likely < 5%. The relationship of CCHS to the high familial incidence of SIDS is intriguing and demands further investigation.

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“…CCHS may be associated with other conditions such as Hirschsprung's disease, neuroblastoma, and ganglioneuromas (4,(8)(9)(10)(11)(12)(13)(14). A primary defect of brain stem serotonergic nerve cell or a neural crest migrational abnormality has been suggested as a possible explanation for this linkage (9, 1 1, 13, 15).…”

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Heart Rate Variability in Congenital Central Hypoventilation Syndrome

Woo²,

et al. 1992

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ABSTRACT. Heart rate variability was assessed in 12 patients with congenital central hypoventilation syndrome (CCHS) and in age-and sex-matched controls using SD of time intervals between R waves (R-R intervals), R-R interval histograms, spectral analysis, and PoincarC plots of sequential R-R intervals over a 24-h period using ambulatory monitoring. Mean heart rates in patients with CCHS were 103.3 f 17.7 SD and in controls were 98.8 f 21.6 SD ( p > 0.5, NS). SD analysis of R-R intervals showed similar results in both groups (CCHS 102.2 f 36.0 ms versus controls 126.1 f 43.3 ms; p > 0.1, NS). Spectral analysis revealed that, for similar epochs sampled during quiet sleep and wakefulness, the ratios of low-frequency band to high-frequency band spectral power were increased for 11 of 12 patients with CCHS during sleep, whereas a decrease in these ratios was consistently observed in all controls during comparable sleep states (xZ = 20.31; p < 0.000007). During wakefulness, the ratios of low-frequency band to high-frequency band spectral power were similar in both patients with CCHS and controls. Poincare plots displayed significantly reduced beat-to-beat changes at slower heart rates in the CCHS patients (xZ = 24.0; p < 0.000001). The scatter of points in CCHS Poincare plots was easily distinguished from controls. All CCHS patients showed disturbed variability with one or more measures. The changes in moment-to-moment heart rate variability suggest that, in addition to a loss of ventilatory control, CCHS patients exhibit a dysfunction in autonomic nervous system control of the heart. (Pediafr Res 31: 291-296, 1992) Abbreviations CCHS, congenital central hypoventilation syndrome HRV, heart rate variability R-R, time interval between R waves LO-HI, ratio of low-frequency band to high-frequency band spectral power

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Total colonic aganglionosis (Zuelzer-Wilson syndrome) and congenital failure of automatic control of ventilation (Ondine's curse)

Cited by 46 publications

References 11 publications

Molecular genetics of congenital central hypoventilation syndrome and Haddad syndrome

Molecular genetics of congenital central hypoventilation syndrome and Haddad syndrome

Congenital central hypoventilation syndrome: Inheritance and relation to sudden infant death syndrome

Heart Rate Variability in Congenital Central Hypoventilation Syndrome

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