Congenital Central Hypoventilation Syndrome with PHOX2B Gene Mutation: Are We Missing the Diagnosis?

被引：0
作者：
Nilay Nirupam
Rajni Sharma
Viswas Chhapola
Sandeep Kumar Kanwal
Elizabeth M. Berry-Kravis
Virendra Kumar
机构：
[1] Lady Hardinge Medical College and associated Kalawati Saran Children’s Hospital,Department of Pediatrics, Division of Pediatric Intensive Care
[2] Rush University Medical Center,Departments of Pediatrics, Neurological Sciences, and Biochemistry and Molecular Diagnostics Section of the Genetics Laboratory
来源：
The Indian Journal of Pediatrics | 2013年 / 80卷
关键词：
Congenital central hypoventilation syndrome (CCHS); gene; Polyalanine repeat expansion mutation (PARM); Apnea;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
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.
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页码：688 / 690
页数：2
相关论文
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