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[Congenital central hypoventilation syndrome, report of three cases].
Zhonghua Er Ke Za Zhi. 2013 Nov; 51(11):852-5.ZE

Abstract

OBJECTIVE

To evaluate clinical characteristics and PHOX2B gene mutations in congenital central hypoventilation syndrome (CCHS) and to facilitate the early diagnosis and management of CCHS and reduce the misdiagnosis.

METHOD

Clinical data of 3 infants with CCHS who had recurrent respiratory failure episodes and dependent on mechanical ventilation support in 3 from March 2008 to April 2012 were analyzed, and blood gas analysis was performed respectively in the awaken and sleeping status. Gene sequencing was used for detection of PHOX2B gene mutation.

RESULT

All the three patients had adequate ventilation during awaken time, but they presented with abnormal frequency and shallow breathing associated with alveolar hypoventilation after falling asleep. Blood gas analysis showed hypercapnia and CO2 partial pressure was consistently over 60 mm Hg (1 mm Hg = 0.133 kPa) after falling asleep, which is in accordance with the clinical features of CCHS. The PHOX2B gene sequencing showed that 6 GCN repeats were inserted at exon3 of PHOX2B in case 1, at same position, 5 GCN repeats were inserted in case 2 and 3.

CONCLUSION

Normal ventilation in awaken status while shallow slow breathing accompanied with hypercapnia in sleep are the main clinical characteristics of CCHS, which requires mechanical ventilation. Acquired mutation in exon 3 of PHOX2B gene encoding repeated GCN sequence seems to be the molecular etiology of these three patients.

Authors+Show Affiliations

Wang Y
Department of Neurodevelopment and Genetics, The Bayi Children's Hospital Affiliated to Beijing Military Command General Hospital, Anhui Medical University, Beijing 100700, China.
He XY
Department of Neurodevelopment and Genetics, The Bayi Children's Hospital Affiliated to Beijing Military Command General Hospital, Anhui Medical University, Beijing 100700, China. Email: hxyjs2001@yahoo.com.cn.
Yang Y
Department of Neurodevelopment and Genetics, The Bayi Children's Hospital Affiliated to Beijing Military Command General Hospital, Anhui Medical University, Beijing 100700, China.
Chen XC
Department of Neurodevelopment and Genetics, The Bayi Children's Hospital Affiliated to Beijing Military Command General Hospital, Anhui Medical University, Beijing 100700, China.

MeSH

AlanineBlood Gas AnalysisCarbon DioxideDNA Mutational AnalysisExonsFemaleHomeodomain ProteinsHumansHypercapniaHypoventilationInfantInfant, NewbornMaleMutationOxygen Inhalation TherapyPolymerase Chain ReactionPolysomnographyRespiration, ArtificialRetrospective StudiesSleep Apnea, CentralTranscription Factors

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

chi

PubMed ID

24484562

Citation

Wang, Ying, et al. "[Congenital Central Hypoventilation Syndrome, Report of Three Cases]." Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, vol. 51, no. 11, 2013, pp. 852-5.
Wang Y, He XY, Yang Y, et al. [Congenital central hypoventilation syndrome, report of three cases]. Zhonghua Er Ke Za Zhi. 2013;51(11):852-5.
Wang, Y., He, X. Y., Yang, Y., & Chen, X. C. (2013). [Congenital central hypoventilation syndrome, report of three cases]. Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 51(11), 852-5.
Wang Y, et al. [Congenital Central Hypoventilation Syndrome, Report of Three Cases]. Zhonghua Er Ke Za Zhi. 2013;51(11):852-5. PubMed PMID: 24484562.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Congenital central hypoventilation syndrome, report of three cases]. AU - Wang,Ying, AU - He,Xi-yu, AU - Yang,Yao, AU - Chen,Xiao-chun, PY - 2014/2/4/entrez PY - 2014/2/4/pubmed PY - 2014/9/5/medline SP - 852 EP - 5 JF - Zhonghua er ke za zhi = Chinese journal of pediatrics JO - Zhonghua Er Ke Za Zhi VL - 51 IS - 11 N2 - OBJECTIVE: To evaluate clinical characteristics and PHOX2B gene mutations in congenital central hypoventilation syndrome (CCHS) and to facilitate the early diagnosis and management of CCHS and reduce the misdiagnosis. METHOD: Clinical data of 3 infants with CCHS who had recurrent respiratory failure episodes and dependent on mechanical ventilation support in 3 from March 2008 to April 2012 were analyzed, and blood gas analysis was performed respectively in the awaken and sleeping status. Gene sequencing was used for detection of PHOX2B gene mutation. RESULT: All the three patients had adequate ventilation during awaken time, but they presented with abnormal frequency and shallow breathing associated with alveolar hypoventilation after falling asleep. Blood gas analysis showed hypercapnia and CO2 partial pressure was consistently over 60 mm Hg (1 mm Hg = 0.133 kPa) after falling asleep, which is in accordance with the clinical features of CCHS. The PHOX2B gene sequencing showed that 6 GCN repeats were inserted at exon3 of PHOX2B in case 1, at same position, 5 GCN repeats were inserted in case 2 and 3. CONCLUSION: Normal ventilation in awaken status while shallow slow breathing accompanied with hypercapnia in sleep are the main clinical characteristics of CCHS, which requires mechanical ventilation. Acquired mutation in exon 3 of PHOX2B gene encoding repeated GCN sequence seems to be the molecular etiology of these three patients. SN - 0578-1310 UR - https://www.unboundmedicine.com/medline/citation/24484562/[Congenital_central_hypoventilation_syndrome_report_of_three_cases]_ DB - PRIME DP - Unbound Medicine ER -