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

Robert E. Rogers, Ralph J DeBerardinis, Laura J Klesse, Richard L. Boriack, Linda R. Margraf, Dinesh Rakheja

Research output: Contribution to journalArticlepeer-review

21 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)408-411
Number of pages4
JournalPediatric and Developmental Pathology
Issue number5
StatePublished - Sep 2010


  • L-2-hydroxyglutaric aciduria
  • Wilms tumor

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pathology and Forensic Medicine


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