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Congenital central hypoventilation syndrome mimicking mitochondrial disease.


ABSTRACT: Later-onset congenital central hypoventilation syndrome (LO-CCHS) does not present only breathing problems but can be present as episodic multiple organs involvement. Our unique case demonstrated LO-CCHS should be considered in the differential diagnosis of mitochondrial diseases and having nontypical polysomnography result.

SUBMITTER: Rojnueangnit K 

PROVIDER: S-EPMC5838278 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature

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Congenital central hypoventilation syndrome mimicking mitochondrial disease.

Rojnueangnit Kitiwan K   Descartes Maria M  

Clinical case reports 20180119 3


Later-onset congenital central hypoventilation syndrome (LO-CCHS) does not present only breathing problems but can be present as episodic multiple organs involvement. Our unique case demonstrated LO-CCHS should be considered in the differential diagnosis of mitochondrial diseases and having nontypical polysomnography result. ...[more]

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