Wilms Tumor in a Child with L-2-hydroxyglutaric Aciduria.
Rogers, Robert E. 1; DeBerardinis, Ralph J. 2; Klesse, Laura J. 2; Boriack, Richard L. 1; Margraf, Linda R. 1,3; Rakheja, Dinesh 1,3,*
[Article] Pediatric & Developmental Pathology. 13(5):408-411, September 2010.

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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.

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