Affiliation:
1. Clinic of Neurology and Psychiatry for Children and Youth, Belgrade + School of Medicine, Belgrade
2. Clinic of Neurology and Psychiatry for Children and Youth, Belgrade
3. Oncology Institute of Vojvodina, Imaging Diagnostic Center, Sremska Kamenica
Abstract
Introduction. L-2-Hydroxyglutaric aciduria (L-2-HGA) is an autosomal
recessive neurometabolic disease with a slowly progressive course and
characterized by increased levels of hydroxyglutaric acid in urine,
cerebrospinal fluid and plasma. In this condition clinical features mainly
consist of mental deterioration, ataxia and motor deficits. Case Outline. The
patient is a 16-year-old girl, the first and only child of healthy,
non-consanguineous parents of Serbian origin. At the age of 4 years her walk
became unsteady and ataxic. Other signs of cerebellar involvement were soon
observed. Head circumference was above two standard deviations (55 cm). Mild
mental retardation was revealed by formal intelligence testing (IQ 60). MR
examination of the brain showed confluent subcortical white matter lesions
spread centripetally, and atrophy of the cerebellar vermis with involvement
of dentate nuclei, without deep white matter abnormalities. Laboratory
investigation revealed increased amounts and a very large peak of HGA in
urine and plasma. Enantiomeric analysis confirmed the L-configuration (>90%)
establishing the diagnosis of L-2-HGA. The first epileptic seizure, partial
with secondary generalization, occurred at age of 8 years. Favorable seizure
control was achieved. A slow progression of neurological impairment was
noted. Therapeutic trials with oral coenzyme Q10 and with oral riboflavin
showed no biochemical and clinical effects. Recently, the diagnosis was
proven by the presence of a mutation in the L-2-HGA gene. Conclusion. To our
knowledge, this is the first report of L-2-HGA in Serbia. L-2-HGA must be
considered in the differential diagnosis based on specific findings in
cranial MRI.
Publisher
National Library of Serbia
Cited by
7 articles.
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