Congenital central hypoventilation syndrome mimicking mitochondrial disease

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 nontypic...

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Detalles Bibliográficos
Autores principales: Rojnueangnit, Kitiwan, Descartes, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838278/
https://www.ncbi.nlm.nih.gov/pubmed/29531718
http://dx.doi.org/10.1002/ccr3.1320
Descripción
Sumario: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.

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