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Late-onset, insidious course and invasive treatment of congenital central hypoventilation syndrome in a case with the Phox2B mutation: case report

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Abbreviations

PCR:

Polymerase Chain Reaction

CCHS:

Congenital Central Hypoventilation Syndrome

CO2 :

Carbon Dioxide

DNA:

Deoxyribonucleic Acid

MRI:

Magnetic Resonance Imaging

O2 :

Oxygen

PAP:

Pulmonary Artery Pressure

PEEP:

Positive End Expiratory Pressure

VPAP:

Variable Positive Airway Pressure

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Acknowledgments

This work was supported by grants from Associação Fundo de Incentivo à Pesquisa (AFIP), FAPESP (CEPID no. 98/14303-3 to ST), and CPNq.

Conflict of interest

The authors declare that they have no competing interests.

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Authors and Affiliations

  1. Disciplina de Medicina e Biologia do Sono, Departamento de Psicobiologia, Universidade Federal de São Paulo, Rua Napoleão de Barros, 925, 04024-002, São Paulo, São Paulo, Brazil

    Lia Rita Azeredo Bittencourt, Mario Pedrazzoli, Fabiana Yagihara, Gabriela Pontes Luz, Silvério Garbuio, Gustavo Antonio Moreira & Sergio Tufik

  2. Disciplina de Cirurgia de Tórax, Departamento de Cirurgia, Universidade Federal de São Paulo, Rua Napoleão de Barros, 715, 04024-002, São Paulo, São Paulo, Brazil

    João Aléssio J. Perfeito

Authors
  1. Lia Rita Azeredo Bittencourt
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  2. Mario Pedrazzoli
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  3. Fabiana Yagihara
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  4. Gabriela Pontes Luz
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  5. Silvério Garbuio
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  6. Gustavo Antonio Moreira
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  7. João Aléssio J. Perfeito
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  8. Sergio Tufik
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Corresponding author

Correspondence to Lia Rita Azeredo Bittencourt.

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Consent

Written informed consent was obtained from the patient for publication of this case report. A copy of the written consent is available for review by the editor-in-chief of this journal.

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Bittencourt, L.R.A., Pedrazzoli, M., Yagihara, F. et al. Late-onset, insidious course and invasive treatment of congenital central hypoventilation syndrome in a case with the Phox2B mutation: case report. Sleep Breath 16, 951–955 (2012). https://doi.org/10.1007/s11325-011-0614-x

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  • DOI: https://doi.org/10.1007/s11325-011-0614-x

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