Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2014
A case of congenital central hypoventilation syndrome with a novel mutation of the PHOX2B gene presenting as central sleep apnea.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Amimoto Yuko, Okada Kenji, Nakano Hiroshi, Sasaki Ayako, Hayasaka Kiyoshi, Odajima Hiroshi
Аннотация
UNLABELLED: 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.
CITATION: Amimoto Y; Okada K; Nakano H; Sasaki A; Hayasaka K; Odajima H. A case of congenital central hypoventilation syndrome with a novel mutation of the PHOX2B gene presenting as central sleep apnea.
CITATION: Amimoto Y; Okada K; Nakano H; Sasaki A; Hayasaka K; Odajima H. A case of congenital central hypoventilation syndrome with a novel mutation of the PHOX2B gene presenting as central sleep apnea.