L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients.

Abstract

We present clinical, biochemical and cranial magnetic resonance imaging data of six pediatric patients with L-2-hydroxyglutaric aciduria. All the children have the same ethic origin and lived in the northern area of Portugal. Our findings reinforce the described phenotype of this rare metabolic disease with mental deficiency, severe cerebellar dysfunction, mild extrapyramidal and pyramidal symptoms, progressive macrocephaly and seizures. Magnetic resonance imaging revealed subcortical leukoencephalopathy, cerebellar atrophy and signal changes in the putamina and dentate nuclei. These were similar to those of the previous reports in all patients. The urinary excretion of L-2-hydroxyglutaric acid was variably increased in all patients. The other persistent biochemical abnormality was hyperlysinemia. We have found a strong correlation between the severity of the clinical manifestations and the extension of the lesions in the neuroimaging studies. There was no correlation between the clinical findings and the amount of urinary excretion of L-2-hydroxyglutaric acid. We report the second case in the literature of a cerebral thalamic tumor in L-2-hydroxyglutaric aciduria; neuropathological examination of the surgical biopsy demonstrated a diffuse fibrillary astrocytoma.

• Authors: C Barbot, I Fineza, L Diogo, M Maia, J Melo, A Guimarães, M M Pires, M L Cardoso, L Vilarinho
• Journal: Brain & development (Brain Dev) Vol. 19 Issue 4 Pg. 268-73 (Jun 1997) ISSN: 0387-7604 [Print] Netherlands
• PMID: 9187477 (Publication Type: Journal Article)

Chemical References

• Glutarates
• alpha-hydroxyglutarate

Topics

• Adolescent
• Ataxia (complications, diagnostic imaging, pathology)
• Biopsy
• Brain (diagnostic imaging, pathology)
• Child
• Child, Preschool
• Female
• Glutarates (urine)
• Humans
• Intellectual Disability (complications, diagnostic imaging, pathology)
• Magnetic Resonance Imaging
• Male
• Metabolism, Inborn Errors (complications, pathology, urine)
• Portugal
• Renal Aminoacidurias (complications, pathology, urine)
• Tomography, X-Ray Computed