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.
Original language | English (US) |
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Pages (from-to) | 408-411 |
Number of pages | 4 |
Journal | Pediatric and Developmental Pathology |
Volume | 13 |
Issue number | 5 |
DOIs | |
State | Published - Sep 2010 |
Keywords
- L-2-hydroxyglutaric aciduria
- Wilms tumor
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Pathology and Forensic Medicine