A case of L-2 hydroxyglutaric aciduria presenting as febrile seizure

Genet Couns. 2014;25(4):363-7.


L-2 hydroxyglutaric aciduria (L2HGA) is a rare, infantile-onset, autosomal recessive organic aciduria affecting exclusively the central nervous system. A case is reported here of L2HGA presenting with macrocephaly and febrile seizure. Although there have been reports of epilepsy associated with L2HGA, to the best of our knowledge this is the second case in literature of febrile seizure in a patient with L2HGA. This report suggests that detailed neurological evaluation of macrocephalic children with febrile convulsion is important. Moreover, metabolic and genetic investigations may be necessary for these kinds of patients.

Publication types

  • Case Reports

MeSH terms

  • Brain Diseases, Metabolic, Inborn / complications*
  • Brain Diseases, Metabolic, Inborn / diagnosis
  • Brain Diseases, Metabolic, Inborn / genetics
  • Disease Progression*
  • Female
  • Humans
  • Infant
  • Megalencephaly / etiology*
  • Seizures, Febrile / etiology*

Supplementary concepts

  • 2-Hydroxyglutaricaciduria