Journal of Neurological Sciences (Turkish) 2016 , Vol 33 , Num 3
L-2-Hydroxyglutaric Aciduria: Report of Four Turkish Patients from the Same Family
A. Destina YALCIN1, Pinar TEKTURK2, Zuhal YAPICI2
1Department of Neurology, Umraniye Education and Research Hospital, Istanbul, Turkey
2Department of Neurology, Division of Child Neurology, Istanbul Faculty of Medicine, Istanbul, Turkey
Background: L-2Hydroxyglutaric aciduria is a rare slow progressive autosomal recessively inherited neurometabolic disease.

Methods: In this study we describe the clinical genetic and magnetic resonance imaging findings of four Turkish patients from the same family.

Results: All siblings were mentally retarded, had cerebellar symptoms and gait ataxia.The index patient presented with absences, generalized tonic clonic seizures and repeated nonconvulsive status epilepticus episodes before treatment. Their magnetic resonance images demonstrated subcortical white matter and basal ganglia alterations combined with cerebellar atrophy. In all patients the level of L-2-Hydroxyglutaric acid in urine and cerebrospinal fluid were found to be high which confirmed the diagnosis. One prominent feature regarding the course of the disease in our patients is that their neurological status remained more or less unchanged during the follow-up period lasting 20 years which is the longest described in the literature.

Conclusion: Considering the autosomal recessive inheritance pattern of this disorder, and the high rate of consanguineous marriage in Turkey, one should bear in mind this rare disorder while confronted with patients suffering from a combination of progressive cerebellar syndrome, mental retardation and seizures. Keywords : L-2-Hydroxyglutaric aciduria