Congenital central hypoventilation syndrome mimicking mitochondrial disease

Kitiwan Rojnueangnit; Maria Descartes

doi:10.1002/ccr3.1320

Congenital central hypoventilation syndrome mimicking mitochondrial disease

Clin Case Rep. 2018 Jan 19;6(3):465-468. doi: 10.1002/ccr3.1320. eCollection 2018 Mar.

Authors

Kitiwan Rojnueangnit^{1

2}, Maria Descartes^{2

3}

Affiliations

¹ Department of Pediatrics Faculty of Medicine Thammasat University Pathumthani Thailand.
² Department of Genetics University of Alabama at Birmingham Birmingham Alabama.
³ Department of Pediatrics University of Alabama at Birmingham Birmingham Alabama.

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.

Keywords: Congenital central hypoventilation syndrome; PHOX2B; episodic of respiratory failure; milder later‐onset.

Publication types

Case Reports