Hemiconvulsion-hemiplegia-epilepsy syndrome as a presenting feature of L-2-hydroxyglutaric aciduria.
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.
Lee
Céline
C
Children's Hospital, University of Bonn, Adenauerallee 119, 53113 Bonn, Germany.
Born
Mark
M
Salomons
Gajja S
GS
Jakobs
Cornelis
C
Woelfle
Joachim
J
D004827:Epilepsy / Q000209:etiology*; D005260:Female; D005977:Glutarates / Q000378:metabolism*; D006429:Hemiplegia / Q000209:etiology*; D006801:Humans; D007223:Infant; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis; D013577:Syndrome
D005977:Glutarates; C019417:alpha-hydroxyglutarate