Stovroff M, Dykes F, Teague W G
Division of Pediatric Surgery, Emory University School of Medicine, Atlanta, GA 30322, USA.
J Pediatr Surg. 1995 Aug;30(8):1218-21. doi: 10.1016/0022-3468(95)90027-6.
Neuroblastoma, Hirschsprung's disease, and central hypoventilation (Ondine's curse) are considered aberrations of neural crest cell growth, migration, or differentiation, and as such are considered to be under the general heading of neurocristopathy. Their combined occurrence in a newborn infant presenting with total colonic aganglionosis, central hypoventilation, and multifocal neuroblastoma had not been reported previously. A 2.3-kg white full-term girl required endotracheal intubation because of persistent apnea in the first hours of life. She had progressive abdominal distension and failure to pass meconium; a barium enema was performed, which showed microcolon with meconium pellets at the distal ileum. During laparotomy the distal ileum was found to be obstructed with inspissated meconium; an ileostomy and appendectomy were performed. The resected specimens were aganglionic. An additional 20 cm of aganglionic ileum was removed, and a normally innervated ileostomy was constructed. Numerous attempts at extubation failed because of apnea. The results of an extensive apnea workup, including electroencephalogram, magnetic resonance imaging (MRI), bronchoscopy, and pH probe study, were normal. Sleep studies showed congenital central hypoventilation syndrome, and the patient underwent a tracheostomy. At 3 months, an abdominal ultrasound examination performed within a septic workup showed a right suprarenal mass extending across the midline. Thoracic and abdominal MRI scans showed large bilateral adrenal and posterior mediastinal masses. The serum catecholamines and ferritin level were markedly elevated, suggestive of neuroblastoma. In light of the child's multiple problems, the family chose to forgo further workup (including a tissue biopsy) and therapy. In the following 2 months her tumor load rapidly progressed, and she died of respiratory insufficiency.(ABSTRACT TRUNCATED AT 250 WORDS)
神经母细胞瘤、先天性巨结肠病和中枢性低通气（翁丁氏咒诅综合征）被认为是神经嵴细胞生长、迁移或分化的异常，因此被归入神经嵴病这一总类别。此前尚未有新生儿同时出现全结肠无神经节症、中枢性低通气和多灶性神经母细胞瘤的联合病例报告。一名体重2.3千克的足月白人女婴在出生后的最初几个小时因持续性呼吸暂停需要气管插管。她出现进行性腹胀且未排胎便；进行了钡剂灌肠检查，结果显示为小结肠，回肠末端有胎便颗粒。剖腹手术时发现回肠末端被干结的胎便阻塞；进行了回肠造口术和阑尾切除术。切除的标本无神经节。又切除了额外20厘米无神经节的回肠，并构建了神经支配正常的回肠造口。由于呼吸暂停，多次拔管尝试均失败。包括脑电图、磁共振成像（MRI）、支气管镜检查和pH探头研究在内的广泛呼吸暂停检查结果均正常。睡眠研究显示为先天性中枢性低通气综合征，该患者接受了气管造口术。3个月时，在一次败血症检查中进行的腹部超声检查显示右肾上腺肿块延伸至中线。胸部和腹部MRI扫描显示双侧肾上腺和后纵隔有大肿块。血清儿茶酚胺和铁蛋白水平明显升高，提示为神经母细胞瘤。鉴于患儿存在多种问题，家属选择放弃进一步检查（包括组织活检）和治疗。在接下来的2个月里，她的肿瘤负荷迅速进展，最终死于呼吸功能不全。（摘要截取自250字）
