伴有先天性神经母细胞瘤、先天性巨结肠和中枢性低通气综合征的强直性瞳孔。
Tonic pupil associated with congenital neuroblastoma, Hirschsprung disease, and central hypoventilation syndrome.
作者信息
Lambert S R, Yang L L, Stone C
机构信息
Emory Eye Center, Emory University School of Medicine, Atlanta, Georgia 30322, USA.
出版信息
Am J Ophthalmol. 2000 Aug;130(2):238-40. doi: 10.1016/s0002-9394(00)00480-3.
PURPOSE
To report the association of tonic pupil, congenital neuroblastoma, Hirschsprung disease, and central hypoventilation syndrome.
METHODS
Case reports.
RESULTS
Two infants with central hypoventilation syndrome and Hirschsprung disease were evaluated for dilated, nonreactive pupils present since birth. In both cases, pharmacologic testing with dilute pilocarpine confirmed denervation supersensitivity consistent with tonic pupil. The diagnosis of congenital neuroblastoma was subsequently established in both infants.
CONCLUSIONS
The close association of these conditions in these two young children supports the concept of a common neural crest abnormality being present. A careful systemic evaluation to rule out congenital neuroblastoma should be performed in any young child who presents with tonic pupil in the setting of central hypoventilation syndrome and Hirschsprung disease.
目的
报告强直性瞳孔、先天性神经母细胞瘤、先天性巨结肠病和中枢性低通气综合征之间的关联。
方法
病例报告。
结果
对两名患有中枢性低通气综合征和先天性巨结肠病的婴儿进行评估，发现他们自出生以来瞳孔一直散大且无反应。在这两个病例中，用稀释的毛果芸香碱进行药理学测试证实了与强直性瞳孔一致的去神经超敏反应。随后在这两名婴儿中均确诊为先天性神经母细胞瘤。
结论
这两名幼儿中这些病症的密切关联支持了存在共同神经嵴异常的概念。对于任何在中枢性低通气综合征和先天性巨结肠病背景下出现强直性瞳孔的幼儿，都应进行仔细的系统评估以排除先天性神经母细胞瘤。
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