Rohrer Tilman, Trachsel Daniel, Engelcke Gabriele, Hammer Jürg
Division of Pediatric Intensive Care and Pulmonology, University Children's Hospital Basel, Postfach, 4005 Basel, Switzerland.
Pediatr Pulmonol. 2002 Jan;33(1):71-6. doi: 10.1002/ppul.10031.
We report on a male infant with the rare combined occurrence of congenital central hypoventilation syndrome (CCHS or Ondine's curse), Hirschsprung's disease (HD), and neuroblastoma. Current therapeutical options leave no doubt that children with isolated forms of CCHS, HD, or neuroblastoma must be treated, but management decisions and the ethical dilemma become more difficult with the presence of multiple neurocristopathies. Our patient was dependent on mechanical ventilation and total parenteral nutrition, when a neuroblastoma was diagnosed at age 5 months. We initiated an attempt at curative chemotherapy. The tumor failed to respond to recommended chemotherapeutic regimens, and the patient died at 11 months of age. We emphasize the importance of screening CCHS patients for associated illnesses such as neuroblastoma and ganglioneuroblastoma at time of diagnosis.
我们报告了一名患有先天性中枢性低通气综合征（CCHS或翁丁氏 curse）、先天性巨结肠（HD）和神经母细胞瘤这种罕见组合病症的男婴。目前的治疗选择明确表明，患有孤立形式的CCHS、HD或神经母细胞瘤的儿童必须接受治疗，但当存在多种神经嵴病时，管理决策和伦理困境会变得更加困难。我们的患者在5个月大时被诊断出患有神经母细胞瘤，当时依赖机械通气和全胃肠外营养。我们开始尝试进行根治性化疗。肿瘤对推荐的化疗方案没有反应，患者在11个月大时死亡。我们强调在诊断时对CCHS患者进行相关疾病筛查的重要性，如神经母细胞瘤和神经节神经母细胞瘤。
