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D-2-hydroxyglutaric aciduria with cerebral, vascular, and muscular abnormalities in a 14-year-old boy

O Eeg-Olofsson1, W W Zhang, Y Olsson

  • 1Department of Women's and Children's Health, Uppsala University, Sweden. orvar.eeg-olofsson@pediatrik.uu.se

Journal of Child Neurology
|August 2, 2000
PubMed

Insights

D-2-Hydroxyglutaric Aciduria, a rare metabolic disorder, can cause severe brain and organ damage. This case highlights a fatal presentation in a 14-year-old boy with epilepsy and vascular abnormalities.

Area of Science:

  • Biochemistry
  • Neurology
  • Pediatrics

Background:

  • D-2-Hydroxyglutaric Aciduria (2-HGA) is a rare metabolic disorder.
  • It can lead to significant neurological and systemic complications.

Observation:

  • A 14-year-old boy presented with early-onset irritability, pyloric stenosis, and epilepsy.
  • Clinical features included mental retardation, hypotonia, dystonia, dysmorphic features, and cardiomegaly with aortic insufficiency.
  • Brain MRI revealed cerebral atrophy, reduced white matter, and multiple middle cerebral artery aneurysms.

Findings:

  • Autopsy confirmed white matter reduction and middle cerebral artery aneurysms.
  • Microvascular lesions in the brain, kidneys, and lungs were observed.
  • Cardiomyopathy, renal infarcts, and myopathy indicated a disseminated mesenchymal process.

Implications:

  • This case underscores the severe systemic impact of D-2-Hydroxyglutaric Aciduria.
  • The findings suggest a potential link between 2-HGA and widespread vascular and connective tissue abnormalities.
  • Further research is needed to understand the pathogenesis and develop targeted therapies.

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