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Related Experiment Videos

L-2-Hydroxyglutaric aciduria presenting as status epilepticus.

D I Zafeiriou1, A Sewell, P Savvopoulou-Augoustidou

  • 1Developmental Center "A. Fokas", 1st Pediatric Clinic, Aristotle University of Thessaloniki, Thessaloniki, Greece. jeff@med.auth.gr

Brain & Development
|May 30, 2001
PubMed
Summary

L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare metabolic disorder. This case highlights seizures and neurological signs as potential early indicators of L-2-HGA in children.

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Area of Science:

  • Biochemistry
  • Neurology
  • Genetics

Background:

  • L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare organic aciduria characterized by progressive central nervous system (CNS) involvement.
  • Understanding the clinical spectrum and diagnostic challenges of L-2-HGA is crucial for early intervention.

Observation:

  • A 13.5-year-old female presented with generalized status epilepticus, responsive to phenytoin.
  • Neuroimaging revealed subcortical white matter alterations.
  • Neurological examination showed mild mental retardation, macrocephaly, and cerebellar signs.

Findings:

  • Urinary organic acid analysis confirmed elevated excretion of L-2-hydroxyglutaric acid.
  • The patient's presentation included macrocephaly, mental retardation, cerebellar involvement, and white matter changes.

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Implications:

  • The constellation of findings suggests L-2-HGA should be considered in pediatric patients with these neurological signs.
  • Epileptic seizures, including status epilepticus, can be an initial symptom of slowly progressive organic acidurias like L-2-HGA.
  • Early diagnosis of L-2-HGA is essential for managing its progressive neurological effects.