Department of Pediatrics, Division of Pediatric Intensive Care, Lady Hardinge Medical College and associated Kalawati Saran Children's Hospital, New Delhi 110001, India.
Indian J Pediatr. 2013 Aug;80(8):688-90. doi: 10.1007/s12098-012-0837-2. Epub 2012 Jul 25.
Congenital Central Hypoventilation Syndrome is a rare disorder of autonomic and central nervous system dysfunction with impaired control of breathing. The authors report a 37- d-old girl infant with recurrent apnea requiring repeated mechanical ventilation with no evidence of neuromuscular, cardiac or lung disease. A mutation analysis of PHOX2B gene revealed 25 polyalanine repeat expansion mutation on chromosome 4p12. This article aims at raising awareness among pediatricians about molecular basis and availability of confirmatory genetic testing for diagnosis and to help with prognosis in this disorder.
先天性中枢性通气不足综合征是一种罕见的自主神经和中枢神经系统功能障碍疾病，呼吸控制受损。作者报告了一例 37 天大的女婴，反复出现呼吸暂停，需要反复机械通气，无神经肌肉、心脏或肺部疾病证据。对 PHOX2B 基因的突变分析显示，4p12 染色体上存在 25 个多聚丙氨酸重复扩展突变。本文旨在提高儿科医生对该疾病分子基础和可进行确诊性遗传检测的认识，并帮助预测该疾病的预后。
