Kumar Gaurav, Chalipat Shiji, Malwade Sudhir, Chavan Sanjay, Pimparkar Sanika
Pediatrics, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pune, IND.
Pediatric Neurology, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pune, IND.
Cureus. 2024 Jul 19;16(7):e64884. doi: 10.7759/cureus.64884. eCollection 2024 Jul.
Congenital central hypoventilation syndrome (CCHS) is a rare cause of apnea and hypoventilation requiring long-term multidisciplinary care. In this article, we report the case of a two-month-old female child who presented with recurrent apnea and cyanosis, requiring long-term ventilation. After ruling out other common causes of apnea like sepsis, metabolic disorders, and neuromuscular disorders, a genetic study was done, which confirmed the diagnosis of CCHS. The child was discharged on home oxygen therapy, and the parents were counseled about genetic testing and informed about the prognosis and requirement for home ventilation therapy, as well as parental testing.
先天性中枢性低通气综合征（CCHS）是一种导致呼吸暂停和通气不足的罕见病因，需要长期多学科护理。在本文中，我们报告了一名两个月大女童的病例，该女童反复出现呼吸暂停和发绀，需要长期通气治疗。在排除了败血症、代谢紊乱和神经肌肉疾病等其他常见的呼吸暂停病因后，进行了基因研究，确诊为CCHS。该患儿出院后接受家庭氧疗，向其父母提供了基因检测咨询，并告知了预后、家庭通气治疗的要求以及父母检测的相关信息。
