A CASE OF L-2 HYDROXYGLUTARIC ACIDURIA PRESENTING AS FEBRILE SEIZURE

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 L2HG...

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Published inGenetic counseling Vol. 25; no. 4; pp. 363 - 367
Main Authors CALIK, M, TUNCER, F. N, SARIKAYA, S, KARAKAS, O, CECE, H, ISCAN, A
Format Journal Article
LanguageEnglish
Published Genève Médecine & hygiène 01.01.2014
Éditions Médecine et Hygiène
Subjects
Biological and medical sciences
Brain Diseases, Metabolic, Inborn - complications
Brain Diseases, Metabolic, Inborn - diagnosis
Brain Diseases, Metabolic, Inborn - genetics
Disease Progression
Female
General aspects. Genetic counseling
Humans
Infant
Medical genetics
Medical sciences
Megalencephaly - etiology
Seizures, Febrile - etiology
Case study
L-2 hydroxyglutaric aciduria
Febrile seizure
Nervous system diseases
Genetic counseling
Aciduria
Neurological disorder
Febrile convulsion
Inaugural sign
Macrocephaly
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Summary: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.
Bibliography:ObjectType-Case Study-2
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ISSN:1015-8146