Division of Pediatric and Neonatal Neurology, Rainbow Children's Hospital and Perinatal Centre, Hyderabad, India.
Indian J Pediatr. 2012 Nov;79(11):1526-8. doi: 10.1007/s12098-012-0789-6. Epub 2012 Jun 7.
A term baby developed hypoventilation on day 1 of life requiring mechanical ventilation and had subsequent difficulty in weaning. Diagnostic workup for pulmonary, cardiac, metabolic, sepsis and structural CNS diseases were negative. In view of persistent hypoventilation despite raised pCO(2) levels in absence of any sedation, the diagnosis of Idiopathic. Congenital Central Hypoventilation Syndrome (CCHS) was considered. The baby was tested for Paired-like Homeobox 2B (PHOX2B) gene mutation and was found to have expanded alleles containing 10 polyalanine repeats producing genotype of 20/30 on chromosome 4p12 (The normal being 20/20). This is the first report of a neonate from India with genetically confirmed CCHS.
一名足月出生的婴儿在出生后第 1 天出现呼吸不足，需要机械通气，随后撤机困难。进行了肺部、心脏、代谢、败血症和中枢神经系统结构性疾病的诊断性检查，但均为阴性。鉴于在没有镇静的情况下，尽管二氧化碳分压升高，但仍持续存在呼吸不足，因此考虑诊断为特发性先天性中枢性肺泡换气不足综合征（CCHS）。对该婴儿进行了配对同源框 2B（PHOX2B）基因突变检测，发现其等位基因扩展，含有 10 个丙氨酸重复序列，在 4p12 染色体上产生基因型为 20/30（正常为 20/20）。这是印度首例经基因确诊的 CCHS 新生儿病例报告。
