A Case of Congenital Central Hypoventilation Syndrome with a Novel Mutation of the PHOX2B Gene Presenting as Central Sleep Apnea | Zendy

Yuko Amimoto | Zendy; Kenji Okada | Zendy; Hiroshi Nakano | Zendy; Ayako Sasaki | Zendy; Kiyoshi Hayasaka | Zendy; Hiroshi Odajima | Zendy

Open Access

A Case of Congenital Central Hypoventilation Syndrome with a Novel Mutation of the PHOX2B Gene Presenting as Central Sleep Apnea

Author(s) -

Yuko Amimoto,

Kenji Okada,

Hiroshi Nakano,

Ayako Sasaki,

Kiyoshi Hayasaka,

Hiroshi Odajima

Publication year - 2014

Publication title -

journal of clinical sleep medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.529

H-Index - 92

eISSN - 1550-9397

pISSN - 1550-9389

DOI - 10.5664/jcsm.3542

Subject(s) - congenital central hypoventilation syndrome , hypoventilation , polysomnography , medicine , apnea , pediatrics , central sleep apnea , mutation , sleep apnea , genetics , respiratory system , gene , biology

Congenital central hypoventilation syndrome (CCHS) is a rare disease characterized by abnormal autonomic control of breathing resulting in hypoventilation. We report an infant girl with CCHS who presented with central sleep apnea, which was first demonstrated by polysomnography when the infant was 5 months old. She was heterozygous for the novel 590delG mutation of PHOX2B, which is classified as a non-polyalanine repeat mutation (NPARM). This mutation is considered to be associated with a relatively mild phenotype.

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