Rogers Robert E, Deberardinis Ralph J, Klesse Laura J, Boriack Richard L, Margraf Linda R, Rakheja Dinesh
1Department of Pathology, Children's Medical Center, Dallas, TX, USA.
Pediatr Dev Pathol. 2010 Sep-Oct;13(5):408-11. doi: 10.2350/09-12-0768-CR.1. Epub 2010 Jan 11.
We report a male infant with L-2-hydroxyglutaric aciduria and Wilms tumor. L-2-hydroxyglutaric aciduria is a rare, autosomal-recessive, inborn error of metabolism characterized by a variable degree of progressive encephalopathy. Of the fewer than 100 cases reported in the literature, at least 9 patients have developed tumors of the central nervous system. To our knowledge, the present case is the 1st example of an extracranial tumor associated with L-2-hydroxyglutaric aciduria. This observation potentially widens the tumor spectrum in this metabolic disorder and may lead to further insight into the relationship between L-2-hydroxyglutaric acid and cellular transformation.
我们报告了一名患有L-2-羟基戊二酸尿症和肾母细胞瘤的男婴。L-2-羟基戊二酸尿症是一种罕见的常染色体隐性遗传的先天性代谢紊乱疾病，其特征为不同程度的进行性脑病。在文献报道的不到100例病例中，至少有9名患者发生了中枢神经系统肿瘤。据我们所知，本病例是与L-2-羟基戊二酸尿症相关的颅外肿瘤的首例。这一观察结果可能会扩大这种代谢紊乱疾病中的肿瘤谱，并可能有助于进一步深入了解L-2-羟基戊二酸与细胞转化之间的关系。
