我们介绍了在没有原发性心肺和中枢神经系统疾病的情况下,患有早发性呼吸暂停和心动过缓的新生儿,这些疾病最终需要从生命6小时开始的慢性呼吸机支持。配对同源异型盒2b(PHOX2B)基因突变的分子检测证实了先天性中枢性通气不足综合征(CCHS)的诊断。CCHS是一种罕见的遗传性疾病,其特征是中枢呼吸控制受损,有或没有广泛的自主神经系统(ANS)失调。眼部ANS失调在CCHS个体中是罕见的发现,它通常在以后的生活中被发现。然而,出生第一天对该新生儿的眼科评估显示,持续的轻度椭圆形瞳孔扩张,光反应性有限。
We present a neonate with early onset apnea and bradycardia in the absence of primary cardiorespiratory and central nervous system disorders that eventually required chronic ventilator support starting at 6 hours of life. Molecular testing of paired-like homeobox 2b (
PHOX2B) gene mutation confirmed the diagnosis of congenital central hypoventilation syndrome (CCHS). CCHS is a rare genetic disorder characterized by impaired central respiratory control with or without broad spectrum of autonomic nervous system (ANS) dysregulations. Ocular ANS dysregulation is a rare finding in CCHS individuals, and it is usually discovered later in life. However, the ophthalmic evaluation of this neonate on first day of life revealed persistent mild dilated oval pupils with limited light reactivity.