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[The congenital central hypoventilation syndrome (CCHS): a late presentation].
Rev Mal Respir. 2012 Mar; 29(3):426-9.RM

Abstract

BACKGROUND

The congenital central hypoventilation syndrome (CCHS) or Ondine's curse is a rare autosomal dominant disease, characterized by disorders of the autonomic nervous system, with abnormal ventilatory responses to hypercapnia and hypoxia. PHOX2B has been identified as the major gene causing CCHS. It results from polyalanine repeat expansion mutations. It typically presents in the newborn period but some cases have been described in adults (late onset CCHS) reflecting the variable penetrance of PHOX2B mutations.

CASE REPORT

A 48 year-old woman presented, after ovarian cyst surgery, with severe hypoventilation requiring intubation. Arterial blood gases revealed a PaO2 of 6.6kPa (50mmHg), a PaCO2 of 10kPa (80mmHg) and a pH of 7.22. The past medical history revealed nocturnal symptoms for a few years. These included apnoeas, fitful sleep and awakening with headaches. Physical examination, pulmonary function tests, lung tomography and magnetic resonance imaging of the brainstem were all normal. Polysomnography revealed numerous central and obstructive apnoeas and hypopnoeas, with severe hypoxaemia and hypercapnia. Hypoxic and hypercapnic stimulation tests showed no adaptation of the ventilatory responses. Genetic analysis showed a heterozygous five alanine expansion mutation of the 20-residue polyalanine tract in exon 3 of the PHOX2B gene.

CONCLUSION

The diagnosis of late onset CCHS should be considered in patients with unexplained hypoventilation, and physiological evaluation should be undertaken to document the abnormal ventilatory responses. The presence of a PHOX2B mutation confirms the diagnosis.

Links

Publisher Full Text
linkinghub.elsevier.com
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Authors+Show Affiliations

Lamon T
Service de pneumologie-allergologie, hôpital Larrey, CHU de Toulouse, 24, chemin de Pouvourville, TSA 30030, 31059 Toulouse cedex 9, France. tatlamon@yahoo.fr
Pontier S
No affiliation info available
Têtu L
No affiliation info available
Riviere D
No affiliation info available
Didier A
No affiliation info available

MeSH

Delayed DiagnosisFemaleHumansHypoventilationMiddle AgedOvarian CystsPostoperative ComplicationsSleep Apnea, Central

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

fre

PubMed ID

22440308

Citation

Lamon, T, et al. "[The Congenital Central Hypoventilation Syndrome (CCHS): a Late Presentation]." Revue Des Maladies Respiratoires, vol. 29, no. 3, 2012, pp. 426-9.
Lamon T, Pontier S, Têtu L, et al. [The congenital central hypoventilation syndrome (CCHS): a late presentation]. Rev Mal Respir. 2012;29(3):426-9.
Lamon, T., Pontier, S., Têtu, L., Riviere, D., & Didier, A. (2012). [The congenital central hypoventilation syndrome (CCHS): a late presentation]. Revue Des Maladies Respiratoires, 29(3), 426-9. https://doi.org/10.1016/j.rmr.2011.09.047
Lamon T, et al. [The Congenital Central Hypoventilation Syndrome (CCHS): a Late Presentation]. Rev Mal Respir. 2012;29(3):426-9. PubMed PMID: 22440308.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [The congenital central hypoventilation syndrome (CCHS): a late presentation]. AU - Lamon,T, AU - Pontier,S, AU - Têtu,L, AU - Riviere,D, AU - Didier,A, Y1 - 2012/02/15/ PY - 2011/08/31/received PY - 2011/09/22/accepted PY - 2012/3/24/entrez PY - 2012/3/24/pubmed PY - 2012/7/25/medline SP - 426 EP - 9 JF - Revue des maladies respiratoires JO - Rev Mal Respir VL - 29 IS - 3 N2 - BACKGROUND: The congenital central hypoventilation syndrome (CCHS) or Ondine's curse is a rare autosomal dominant disease, characterized by disorders of the autonomic nervous system, with abnormal ventilatory responses to hypercapnia and hypoxia. PHOX2B has been identified as the major gene causing CCHS. It results from polyalanine repeat expansion mutations. It typically presents in the newborn period but some cases have been described in adults (late onset CCHS) reflecting the variable penetrance of PHOX2B mutations. CASE REPORT: A 48 year-old woman presented, after ovarian cyst surgery, with severe hypoventilation requiring intubation. Arterial blood gases revealed a PaO2 of 6.6kPa (50mmHg), a PaCO2 of 10kPa (80mmHg) and a pH of 7.22. The past medical history revealed nocturnal symptoms for a few years. These included apnoeas, fitful sleep and awakening with headaches. Physical examination, pulmonary function tests, lung tomography and magnetic resonance imaging of the brainstem were all normal. Polysomnography revealed numerous central and obstructive apnoeas and hypopnoeas, with severe hypoxaemia and hypercapnia. Hypoxic and hypercapnic stimulation tests showed no adaptation of the ventilatory responses. Genetic analysis showed a heterozygous five alanine expansion mutation of the 20-residue polyalanine tract in exon 3 of the PHOX2B gene. CONCLUSION: The diagnosis of late onset CCHS should be considered in patients with unexplained hypoventilation, and physiological evaluation should be undertaken to document the abnormal ventilatory responses. The presence of a PHOX2B mutation confirms the diagnosis. SN - 1776-2588 UR - https://www.unboundmedicine.com/medline/citation/22440308/[The_congenital_central_hypoventilation_syndrome__CCHS_:_a_late_presentation]_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0761-8425(12)00018-6 DB - PRIME DP - Unbound Medicine ER -