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Hemiconvulsion-Hemiplegia-Epilepsy Syndrome as a Presenting Feature of L-2-Hydroxyglutaric Aciduria

Children's Hospital University of Bonn Bonn, Germany

Mark Born, MD

Department of Radiology University of Bonn Bonn, Germany

Gajja S. Salomons, PhD

Metabolic Unit Department of Clinical Chemistry VU University Medical Center Amsterdam, the Netherlands

Cornelis Jakobs, PhD

Metabolic Unit Department of Clinical Chemistry VU University Medical Center Amsterdam, the Netherlands

Joachim Woelfle, MD

Children's Hospital University of Bonn Bonn, Germany, joachim.woelfle{at}ukb.uni-bonn.de

L-2-hydroxyglutaric aciduria was diagnosed in a 9-month-old female infant after a complex febrile convulsion with subsequent transient left-sided hemiplegia. The symptoms were consistent with acute hemiconvulsion-hemiplegia-epilepsy syndrome. Magnetic resonance imaging (MRI) of the brain revealed distinct white-matter abnormalities in the bifrontal and bioccipital periventricular area and increased signal intensity in the lenticular, caudate, and dentate nuclei, consistent with L-2-hydroxyglutaric aciduria. Increased concentrations of L-2-hydroxyglutaric acid were detected in the urine, plasma, and cerebrospinal fluid. The patient was homozyous for the p.Lys81Glu (c.241A>G) missense mutation in the L-2-HGA gene, confirming the diagnosis of L-2-hydroxyglutaric aciduria. Acute hemiconvulsion-hemiplegia-epilepsy syndrome has not been reported as a presenting feature in L-2-hydroxyglutaric aciduria. In patients with prolonged or complicated febrile seizures such as hemiconvulsion-hemiplegia-epilepsy syndrome, L-2-hydroxyglutaric aciduria should be included in the differential diagnosis, especially in children with concomitant macrocephaly. (J Child Neurol2006;21:538—540; DOI 10.2310/7010.2006.00116).

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