Congenital central hypoventilation syndrome mimicking mitochondrial disease.
Kitiwan RojnueangnitMaria DescartesPublished in: Clinical case reports (2018)
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.