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Pediatr Dev Pathol. 2010 Sep-Oct;13(5):408-11. doi: 10.2350/09-12-0768-CR.1. Epub 2010 Jan 11.

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

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1Department of Pathology, Children's Medical Center, Dallas, TX, USA.


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.

[Indexed for MEDLINE]

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