Ondine's Curse and Neurocristopathy

Bower, Richard J.; Adkins, John C.

doi:10.1177/000992288001901004

Cited by 74 publications

(37 citation statements)

References 9 publications

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“…Indeed, both diseases have been considered to be part of a broader phenomenon of autonomic nervous system dysfunction (ANSD) in recent literature Weese-Mayer et al, 2001]. These publications, coupled with the recognized association of CCHS with tumors of neural crest origin [Bolande, 1974;Haddad et al, 1978;Bower and Adkins, 1980;Swaminathan et al, 1989], report of childhood neuroblastoma in a mother whose infant has CCHS [Devriendt et al, 2000], as well as our current case reports, further illustrate the phenomenon of CCHS as part of ANSD and suggest a genetic link.…”

Section: Discussionsupporting

confidence: 69%

Idiopathic congenital central hypoventilation syndrome: the next generation

et al. 2002

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Idiopathic congenital central hypoventilation syndrome (CCHS) is a rare disorder in which affected children have a decreased sensitivity of their respiratory centers to hypercarbia and hypoxia, as well as evidence for generalized autonomic nervous system dysfunction. A genetic origin has long been hypothesized for CCHS. Previous reports of the syndrome among twins, siblings, and half siblings, as well as an established association with Hirschsprung disease and neural crest tumors support this genetic hypothesis. Here, we present the first reported offspring born to four women diagnosed with idiopathic CCHS. Their children display a spectrum of abnormalities with one child being diagnosed with CCHS, one child with recurrent apparent life threatening events, one infant born prematurely with severe chronic lung disease and diminished ventilatory responses to carbon dioxide, and one infant who is apparently healthy with no clinical manifestations suggestive of disordered respiratory control to date. Two and potentially three of these patients illustrate transmission of altered respiratory control by CCHS patients into the next generation, furthering the evidence that CCHS is part of a broadly based inherited syndrome of autonomic nervous system dysfunction.

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Section: Discussionsupporting

confidence: 69%

Idiopathic congenital central hypoventilation syndrome: the next generation

et al. 2002

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“…50 CCHS is considered a unique genetic entity with diffuse autonomic dysregulation, Hirschsprung disease in ϳ20% of cases, various tumors of neural crest origin in ϳ5% of cases, and characteristic facies. 54,[57][58][59] Individuals with the CCHS phenotype are heterozygous for a PHOX2B gene mutation located on chromosome 4p12. [60][61][62][63][64] In 90% to 95% of CCHS cases there is a polyalanine expansion mutation in exon 3, and in 5% to 10% of cases there is a unique mutation.…”

Section: Disorders With Cardiorespiratory Dysregulationmentioning

confidence: 99%

Pediatric Autonomic Disorders

2006

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The scope of pediatric autonomic disorders is not well recognized. The goal of this review is to increase awareness of the expanding spectrum of pediatric autonomic disorders by providing an overview of the autonomic nervous system, including the roles of its various components and its pervasive influence, as well as its intimate relationship with sensory function. To illustrate further the breadth and complexities of autonomic dysfunction, some pediatric disorders are described, concentrating on those that present at birth or appear in early childhood.www.pediatrics.org/cgi

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“…Idiopathic congenital central hypoventilation syndrome (CCHS) is an unique disorder of respiratory control [Mellins et al, 1970;Haddad et al, 1978;Guilleminault et al, 1982;Weese-Mayer et al, 1992, occurring in association with Hirschsprung disease (HSCR) [Bolande, 1974;Haddad et al, 1978;Bower and Adkins, 1980;Stern et al, 1980;Guilleminault et al, 1982;O'Dell et al, 1987;Hamilton and Bodurtha, 1989;Minutillo et al, 1989;Weese-Mayer et al, 1992;Commare et al, 1993;Verloes et al, 1993], tumors of neural crest origin (neuroblastoma, ganglioneuroblastoma, ganglioneuroma) [Haddad et al, 1978;Bower and Adkins, 1980;Swaminathan et al, 1989;Weese-Mayer et al, 1992;Commare et al, 1993], and symptoms of autonomic nervous system dysfunction (ANSD) [Weese-Mayer et al, 2001]. Speci®c respiratory control abnormalities include the hallmark of the disease, alveolar hypoventilation and lack of normal ventilatory and arousal responses to hypercarbia and hypoxemia [Deonna et al, 1974;Shannon et al, 1976;Fleming et al, 1980;Wells et al, 1980;Guilleminault et al, 1982;Paton et al, 1989;Weese-Mayer et al, 1992] as well as limited breath-to-breath variability [Weese-Mayer et al, 1999].…”

Section: Introductionmentioning

confidence: 99%

Idiopathic congenital central hypoventilation syndrome: Evaluation of brain‐derived neurotrophic factor genomic DNA sequence variation

et al. 2002

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Idiopathic congenital central hypoventilation syndrome (CCHS) is an unique disorder of respiratory control, occurring in association with Hirschsprung disease (HSCR), tumors of neural crest origin, and symptoms of autonomic nervous system dysfunction (ANSD). CCHS is thought to be genetic in origin based upon 1) affected sib pairs, 2) genetic analysis, and 3) identification of genetic mutations in both HSCR and CCHS patients. Because these mutations have been found in but a few cases of CCHS, exploration of other candidate genes has continued. Brain-derived neurotrophic factor (BDNF) represents a potential candidate gene to consider because of altered respiratory control in the BDNF knock-out mouse model and localization to the enteric nervous system in human tissue. The objective of this study was to determine the frequency of BDNF mutations among 19 children with CCHS (five with HSCR) compared to 40 unaffected unrelated controls. Using the known genomic DNA sequence for BDNF, polymerase chain reaction (PCR)-amplified genomic DNA was analyzed by standard sequencing methods. A discrete mutation was identified in one of 19 children with isolated CCHS and the unaffected father. Specifically, an isoleucine was substituted for a threonine or serine in the amino acid sequence. Absence of this mutation in 40 controls confirmed that this mutation was likely not a common polymorphism. These data further support a genetic basis for CCHS, though mutations of BDNF are not consistent in this disorder.

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Ondine's Curse and Neurocristopathy

Abstract: A newborn with congenital neuroblastomas, Ondine's curse (central hypoventilation) and Hirschsprung's disease is presented. All lesions may be related embryologically and might fall under the general heading of neurocristopathy.

Cited by 74 publications

References 9 publications

Idiopathic congenital central hypoventilation syndrome: the next generation

Idiopathic congenital central hypoventilation syndrome: the next generation

Pediatric Autonomic Disorders

Idiopathic congenital central hypoventilation syndrome: Evaluation of brain‐derived neurotrophic factor genomic DNA sequence variation

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