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NEUROLOGY 2004;62:1882-1884
© 2004 American Academy of Neurology
Brief Communications

L-2-hydroxyglutaric aciduria and brain malignant tumors

A predisposing condition?
I. Moroni, MD, M. Bugiani, MD, L. D’Incerti, MD, C. Maccagnano, MD, M. Rimoldi, PhD, L. Bissola, PhD, B. Pollo, MD, G. Finocchiaro, MD and G. Uziel, MD

From the Departments of Child Neurology (Drs. Moroni, Bugiani, and Uziel), Neuroradiology (Drs. D’Incerti and Maccagnano), Biochemistry and Genetics (Drs. Rimoldi, Bissola, and Finocchiaro), and Neuropathology (Dr. Pollo), National Neurological Institute "C. Besta," Milan, Italy.

Address correspondence and reprint requests to Dr. Graziella Uziel, Dept. of Child Neurology, National Neurologic Institute "C. Besta," Via Celoria 11, 20133 Milan, Italy; e-mail: uziel{at}istituto-besta.it

L-2-hydroxyglutaric aciduria is a rare metabolic encephalopathy displaying a subcortical leukoencephalopathy on MRI. Diagnosis rests on detection of an abnormal accumulation of L-2-hydroxyglutaric acid in body fluids. The authors report on four patients who developed a malignant brain tumor during the course of the disease. This association points to a possible role of L-2-hydroxyglutaric aciduria in predisposing to brain tumorigenesis.

Received September 10, 2003. Accepted in final form January 8, 2004.




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