Congenital central hypoventilation syndrome (Ondine's curse syndrome) in two siblings: Delayed diagnosis and successful noninvasive treatment

Kerbl, Reinhold; Litscher, H; Grubbauer, H. M.; Reiterer, F; Zobel, G; Trop, Marija; Urlesberger, B; Eber, Ernst; Kurz, Ronald

doi:10.1007/bf02282890

Cited by 49 publications

(16 citation statements)

References 23 publications

(26 reference statements)

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“…This is consistent with the emerging literature for diagnoses, such as congenital central hypoventilation syndrome, that these children can be safely managed with noninvasive ventilation from infancy. 23,24 This is, in part, due to the significant improvements in the availability of commercially available interfaces for young children, as well as an emerging option to have custom-made interfaces. 25 Furthermore, there have been significant advances in the ventilators themselves.…”

Section: Discussionmentioning

confidence: 99%

A comparison of invasive and noninvasive ventilation in children less than 1 year of age: A long‐term follow‐up study

Kherani

Sayal

Al-Saleh

et al. 2015

Pediatric Pulmonology

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Section: Discussionmentioning

confidence: 99%

A comparison of invasive and noninvasive ventilation in children less than 1 year of age: A long‐term follow‐up study

Kherani

Sayal

Al-Saleh

et al. 2015

Pediatric Pulmonology

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“…There have been several reports of familial cases supporting a genetic disease (Khalifa et al 1988;Hamilton and Bodurtha 1989;Kerbl et al 1996;Sritippayawan et al 2002;Silvestri et al 2002). In the animal experiments, knockout mice for several genes demonstrate respiratory impairments of chemosensitivity as do the patients with CCHS (Kuwaki et al 1996;Burton et al 1997;Balkowiec and Katz 1998;Dauger et al 1999;Shirasawa et al 2000).…”

Section: Introductionmentioning

confidence: 96%

Molecular analysis of congenital central hypoventilation syndrome

et al. 2003

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Congenital central hypoventilation syndrome (CCHS or Ondine's curse; OMIM 209880) is a disorder characterized by an idiopathic failure of the automatic control of breathing. CCHS is frequently complicated with neurocristopathies such as Hirschsprung's disease (HSCR). The genes involved in the RET-GDNF signaling and/or EDN3-EDNRB signaling pathways have been analyzed as candidates for CCHS; however, only a few patients have mutations of the RET, EDN3, and GDNF genes. Recently, mutations of the PHOX2B gene, especially polyalanine expansions, have been detected in two thirds of patients. We studied the RET, GDNF, GFRA1, PHOX2A, PHOX2B, HASH-1, EDN1, EDN3, EDNRB, and BDNF genes in seven patients with isolated CCHS and three patients with HSCR. We detected polyalanine expansions and a novel frameshift mutation of the PHOX2B gene in four patients and one patient, respectively. We also found several mutations of the RET, GFRA1, PHOX2A, and HASH-1 genes in patients with or without mutations of the PHOX2B gene. Our study confirmed the prominent role of mutations in the PHOX2B gene in the pathogenesis of CCHS. Mutations of the RET, GFRA1, PHOX2A, and HASH-1 genes may also be involved in the pathogenesis of CCHS. To make clear the pathogenesis of CCHS, the analysis of more cases and further candidates concerned with the development of the autonomic nervous system is required.

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“…Most patients receive assisted ventilation using positive pressure ventilation (PPV) via tracheostomy [1,2,5,6,7,8,9]. Some families choose to use ventilatory support without a tracheostomy, such as noninvasive PPV (NPPV) [9,10,11,12,13,14], diaphragm pacing (DP) [8,9,15,16,17,18,19], or negative pressure ventilators [9,20]. DP via phrenic nerve stimulation has been used for over four decades in infants and children [15,16,17,18].…”

Section: Introductionmentioning

confidence: 99%

Diaphragm Pacing without Tracheostomy in Congenital Central Hypoventilation Syndrome Patients

Diep

Wang

et al. 2015

Respiration

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Background: Congenital central hypoventilation syndrome (CCHS) is a rare disorder affecting central control of breathing. Thus, patients require lifelong assisted ventilation. Diaphragm pacing (DP) may permit decannulation in those who are ventilator dependent only during sleep. Objective: The purpose of this study is to determine if patients with CCHS can be successfully ventilated by DP without tracheostomy. Methods: We reviewed the records of 18 CCHS patients (mean age 19.5 ± 10.1 years; 44% female) who were ventilated by DP only during sleep. Results: Prior to diaphragm pacer implantation surgery, 14 CCHS patients had been using home portable positive pressure ventilation (PPV) via tracheostomy, 1 had been on PPV via endotracheal tube, and 3 had been using noninvasive PPV (NPPV). Of the patients with tracheostomy prior to DP (n = 15), 11 (73%) were decannulated and ventilated successfully by DP without tracheostomy. Of all the patients reviewed (n = 18), 13 (72%) were successfully ventilated by DP without tracheostomy. Obesity prevented successful DP without tracheostomy in 1 patient, and upper airway obstruction prevented success in another patient. Snoring and/or obstructive apneas were present in some patients, but they were improved by diaphragm pacer changes, adenotonsillectomy, and/or use of nasal steroids. Conclusions: DP without tracheostomy can be successfully achieved in patients with CCHS. Snoring and obstructive apneas, when present, can be managed by diaphragm pacer changes and medical therapies. Obesity can pose a challenge to successful DP.

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Congenital central hypoventilation syndrome (Ondine's curse syndrome) in two siblings: Delayed diagnosis and successful noninvasive treatment

Cited by 49 publications

References 23 publications

A comparison of invasive and noninvasive ventilation in children less than 1 year of age: A long‐term follow‐up study

A comparison of invasive and noninvasive ventilation in children less than 1 year of age: A long‐term follow‐up study

Molecular analysis of congenital central hypoventilation syndrome

Diaphragm Pacing without Tracheostomy in Congenital Central Hypoventilation Syndrome Patients

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