A Case of Congenital Central Hypoventilation Syndrome with PHOX2B Gene Mutation in a Korean Neonate

Kwon, Kyoung Ah; Park, Su Eun; Byun, Shin Yun; Kim, Shine Young; Hwang, Sang‐Hyun

doi:10.3346/jkms.2010.25.8.1237

Cited by 4 publications

(4 citation statements)

References 18 publications

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“…Long-term prognosis is variable, with mortality rates ranging from 10% to 40% 17) . 20) . After this, two more genetically confirmed CCHS cases have been reported, both of which were accompanied by HD; these cases were finally diagnosed as Haddad syndrome 8,9) .…”

Section: Results Of Genetic Analysis Of the Phox2b Genementioning

confidence: 99%

Haddad Syndrome with a Germ-Line Mutation in thePHOX2BGene in a Korean Neonate

et al. 2015

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Congenital central hypoventilation syndrome (CCHS) is a life-threatening disease that primarily manifests as sleep-associated respiratory insufficiency and a markedly impaired ventilatory response to hypercarbia and hypoxemia. Paired-like homeobox 2b (PHOX2B) gene mutations are known to cause CCHS. Almost all patients with CCHS are heterozygous for a poly-alanine expansion in PHOX2B. However, some patients have other germ-line abnormalities, including missense, nonsense and frame shift mutations. CCHS combined with Hirschsprung disease (Haddad syndrome) is extremely rare. Here, we report the case of a 1-day-old male neonate with recurrent apnea and bowel distension. Genetic analysis showed that he was heterozygous for a germ-line mutation in the PHOX2B gene. Only three cases of CCHS including two with Haddad syndrome confirmed by PHOX2B gene mutations have been reported in Korea. All of these cases have been heterozygous for a poly-alanine expansion mutation. This is the first report describing Haddad syndrome with a germ-line mutation in the PHOX2B gene in a Korean neonate.

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Section: Results Of Genetic Analysis Of the Phox2b Genementioning

confidence: 99%

Haddad Syndrome with a Germ-Line Mutation in thePHOX2BGene in a Korean Neonate

et al. 2015

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“…2). In Korea, there are few reports describing CCHS and Haddad syndrome [11,[17][18][19]. Further data on patients with CCHS and Haddad syndrome in Korea should be gathered.…”

Section: Resultsmentioning

confidence: 99%

“…The combination is referred to as Haddad syndrome In Korea, Ahn et al [15] reported the first case of CCHS in 1993. Several additional cases have been reported to date [11,[16][17][18][19]. With early diagnosis and immediate intervention, the prognosis of CCHS patients has improved in the last decade.…”

Section: Introductionmentioning

confidence: 99%

Molecular genetics of congenital central hypoventilation syndrome and Haddad syndrome

Lee

Kim

2014

J Genet Med

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“…It is a syndrome portraying inadequate respiratory responses to hypoxia and hypercapnia in the absence of a primary pulmonary, cardiac, metabolic, or neuromuscular disease or an identifiable brainstem lesion [6]. It was first described in 1970 by Mellins and colleagues, and since then its relation to PHOX2B gene mutations has been described together with its association with disorders of neural crest origin like Hirschsprung's disease [7][8][9][10]. The literary misnomer "Ondine's curse" has been used in prior literature and is based on a mythical story where a mortal knight Hans betrays Ondine the mermaid.…”

Section: Introductionmentioning

confidence: 99%

Congenital Central Hypoventilation Syndrome: A Comprehensive Review and Future Challenges

Ljubič

Fister

2014

Journal of Respiratory Medicine

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Congenital central hypoventilation syndrome is a disorder predisposed by a paired-like homebox PHOX2B gene. A mutation in the PHOX2B gene is a requisite when diagnosing congenital central hypoventilation syndrome. This mutation is identified in 93-100% of diagnosed patients. The mutation regarding this disorder affects the sensors, the central controller, and the integration of the signals within the central nervous system. This, inter alia, leads to insufficient ventilation and a decrease in PaO 2 , as well as an increase in PaCO 2 . Affected children are at risk during and after the neonatal period. They suffer from hypoventilation periods which may be present whilst sleeping only or in more severe cases when both asleep and awake. It is important for clinicians to perform an early diagnosis of congenital central hypoventilation in order to prevent the deleterious effects of hypoxaemia, hypercapnia, and acidosis on the neurocognitive and cardiovascular functions. Patients need long-term management and appropriate ventilatory support for improving the qualities of their lives. This paper provides a detailed review of congenital central hypoventilation syndrome, a congenital disorder that is genetic in origin. We describe the genetic basis, the wider clinical picture, and those challenges during the diagnosis and management of patients with this condition.

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A Case of Congenital Central Hypoventilation Syndrome with PHOX2B Gene Mutation in a Korean Neonate

Cited by 4 publications

References 18 publications

Haddad Syndrome with a Germ-Line Mutation in thePHOX2BGene in a Korean Neonate

Haddad Syndrome with a Germ-Line Mutation in thePHOX2BGene in a Korean Neonate

Molecular genetics of congenital central hypoventilation syndrome and Haddad syndrome

Congenital Central Hypoventilation Syndrome: A Comprehensive Review and Future Challenges

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