Wilms tumor in a child with L-2-hydroxyglutaric aciduria.
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.
Rogers
Robert E
RE
1Department of Pathology, Children's Medical Center, Dallas, TX, USA.
Deberardinis
Ralph J
RJ
Klesse
Laura J
LJ
Boriack
Richard L
RL
Margraf
Linda R
LR
Rakheja
Dinesh
D
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
D003609:Dactinomycin; D014750:Vincristine