Kerbl R, Litscher H, Grubbauer H M, Reiterer F, Zobel G, Trop M, Urlesberger B, Eber E, Kurz R
Department of Paediatrics, University of Graz, Austria.
Eur J Pediatr. 1996 Nov;155(11):977-80. doi: 10.1007/BF02282890.
Congenital central hypoventilation syndrome (CCHS, Ondine's curse syndrome) is a rare respiratory disorder; less than 100 cases have been reported. Familiality of the disease has been discussed, but only few familial cases have been reported so far. In this report we describe the occurrence of CCHS in two male siblings. Diagnosis was established only at the age of 4 years in the first case, although the patient had disease related symptoms since early infancy. The second patient was one of dizygotic twins, he was diagnosed with CCHS at the age of 8 months. Up to that age only moderate desaturations had been observed. The other twin was unaffected by the disease. Both patients were successfully treated by nocturnal positive-pressure ventilation via a specially adapted face mask. They show satisfactory physical and neurologic development.
Our cases support the assumption of familiality in CCHS although the mode of inheritance remains to be clarified. Polygraphic recordings including capnography should be performed in siblings of CCHS patients early in life in order to avoid secondary complications. Noninvasive treatment by ventilation via special face masks is feasible.
先天性中枢性低通气综合征（CCHS，翁丁氏诅咒综合征）是一种罕见的呼吸系统疾病；迄今报道的病例不足100例。该病的家族性已被讨论过，但到目前为止仅报道了少数家族性病例。在本报告中，我们描述了两兄弟患先天性中枢性低通气综合征的情况。第一例患者直到4岁才确诊，尽管该患者自婴儿早期就出现了与疾病相关的症状。第二例患者是双卵双胞胎之一，8个月大时被诊断为先天性中枢性低通气综合征。在那个年龄之前仅观察到中度血氧饱和度下降。另一个双胞胎未受该病影响。两名患者均通过特制面罩进行夜间正压通气成功治疗。他们的身体和神经发育令人满意。
我们的病例支持先天性中枢性低通气综合征存在家族性这一假设，尽管遗传方式仍有待阐明。为避免继发并发症，应在先天性中枢性低通气综合征患者的兄弟姐妹幼年时进行包括二氧化碳描记法在内的多导睡眠图记录。通过特制面罩进行通气的无创治疗是可行的。
