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首页> 外文期刊>Journal of Pediatric Surgery Case Reports >Genetic mutation in Hirschsprungs/congenital central hypoventilation syndrome
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Genetic mutation in Hirschsprungs/congenital central hypoventilation syndrome

机译：Hirschsprungs /先天性中枢逆向综合征的遗传突变

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BackgroundCongenital central hypoventilation syndrome (CCHS) is a disorder of respiratory and autonomic regulation which presents with hypoventilation. In some patients, CCHS is associated with Hirschsprung disease and as such known as Haddad syndrome.Case presentationA preterm was referred to our intensive care unit due to suspicion of meconium ileus after loop-ileostomy at the age of 8 days. The patient presented with recurrent apnea, did not respond to caffeine citrate, and was dependent on ventilation. Furthermore, the patient was unable to pass stool spontaneously. In the course of clinical deterioration, fluoroscopy showed a perforation next to the ileostomy and resection of ileum was conducted. An ileostomy was performed, and several biopsies of the intestines were taken. Neither in the biopsies nor in the resected segment were ganglion cells identified histopathologically. Considering the poor prognosis, life support was withdrawn. Autopsy and histology verified total aganglionosis of the intestines. Genetic testing confirmed a rare pathogenic deletion in the alanine-repeat region in thePHOX2B(c.722-759del; p.Ala241Glyfs*106).ConclusionCCHS and intestinal aganglionosis are hints for Haddad syndrome. To confirm the diagnosis, biopsies of the intestines and genetic testing for mutations in thePHOX2Bgene should be performed.
机译：BackgroundCongenital中央通气不足综合征（CCHS）是呼吸和自主调节其呈现与通气不足的病症。在一些患者中，CCHS与先天性巨结肠症有关，因此被称为哈达德syndrome.Case presentationA早产是指我们的重症监护病房，由于在8日龄循环回肠造口术之后胎粪性肠梗阻的嫌疑。带有反复呼吸暂停病人，并没有柠檬酸咖啡因响应，并依赖于通风。此外，患者不能自行排出大便。在临床恶化的过程中，荧光透视呈穿孔旁回肠造口并进行回肠切除。进行回肠造口，并采取了肠道的几个活检。无论是在活组织切片检查，也没有在切除部分组织病理学鉴定神经节细胞。考虑到预后不良，生命支持被撤回。尸检和组织学证实肠道的总aganglionosis。基因检测证实了丙氨酸重复区域中的罕见致病缺失thePHOX2B（c.722-759del; p.Ala241Glyfs * 106）.ConclusionCCHS和肠aganglionosis是Haddad的综合征提示。为明确诊断，肠子和在thePHOX2Bgene突变基因检测的活检应该进行。

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