Wilms tumor in a child with L-2-hydroxyglutaric aciduria

RE Rogers, RJ DeBerardinis… - Pediatric and …, 2010 - journals.sagepub.com
RE Rogers, RJ DeBerardinis, LJ Klesse, RL Boriack, LR Margraf, D Rakheja
Pediatric and Developmental Pathology, 2010journals.sagepub.com
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 …
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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