Johnson Mahlon D, Mitchell Alex R, Troup E Christopher, Bhowmick Deb A, Wait Scott D, Aulino Joseph, Zhuang Zhengping, Weil Robert J
Department of Pathology, Vanderbilt University School of Medicine, Nashville, Tenn., USA.
Pediatr Neurosurg. 2004 May-Jun;40(3):124-7. doi: 10.1159/000079854.
A 4-week-old child presented with lethargy, emesis, decreased spontaneous movements, and a bulging fontanelle. Neuroimaging demonstrated a large, hemispheric, multicystic lesion with multiple enhancing nodules, which, on pathological examination, proved to be multiple, distinct hemangioblastomas. Careful molecular analysis failed to reveal alterations of the VHL gene. This represents an uncommon presentation for these tumors and suggests that genes other than VHL may be important in the genesis of these tumors.
一名4周大的儿童出现嗜睡、呕吐、自主运动减少和囟门隆起。神经影像学检查显示一个大的、半球形的多囊性病变，有多个强化结节，病理检查证实为多个不同的血管母细胞瘤。仔细的分子分析未发现VHL基因改变。这是这些肿瘤不常见的表现，提示除VHL基因外的其他基因可能在这些肿瘤的发生中起重要作用。
