학술논문
Wilms tumor in a child with L-2-hydroxyglutaric aciduria.
Document Type
Academic Journal
Author
Rogers RE; 1Department of Pathology, Children's Medical Center, Dallas, TX, USA.; Deberardinis RJ; Klesse LJ; Boriack RL; Margraf LR; Rakheja D
Source
Publisher: SAGE Publishing Country of Publication: United States NLM ID: 9809673 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1093-5266 (Print) Linking ISSN: 10935266 NLM ISO Abbreviation: Pediatr Dev Pathol Subsets: MEDLINE
Subject
Language
English
ISSN
1093-5266
Abstract
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.