title: Wilms tumor in a child with L-2-hydroxyglutaric aciduria.
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.
authors.affiliation: 1Department of Pathology, Children's Medical Center, Dallas, TX, USA.
authors.forename: Robert E
authors.initials: RE
authors.lastname: Rogers
authors.forename: Ralph J
authors.initials: RJ
authors.lastname: Deberardinis
authors.forename: Laura J
authors.initials: LJ
authors.lastname: Klesse
authors.forename: Richard L
authors.initials: RL
authors.lastname: Boriack
authors.forename: Linda R
authors.initials: LR
authors.lastname: Margraf
authors.forename: Dinesh
authors.initials: D
authors.lastname: Rakheja
mesh_terms: D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D020739:Brain Diseases, Metabolic, Inborn / Q000150:complications; D003609:Dactinomycin / Q000008:administration & dosage; D006801:Humans; D007223:Infant; D007680:Kidney Neoplasms / Q000150:complications* / Q000628:therapy; D008297:Male; D009392:Nephrectomy; D014750:Vincristine / Q000008:administration & dosage; D009396:Wilms Tumor / Q000150:complications* / Q000628:therapy
chemical_list: D003609:Dactinomycin; D014750:Vincristine