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 in | Genetic counseling Vol. 25; no. 4; pp. 363 - 367 |
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| Main Authors | , , , , , |
| Format | Journal Article |
| Language | English |
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Genève
Médecine & hygiène
01.01.2014
Éditions Médecine et Hygiène |
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| Abstract | 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. |
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| AbstractList | 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. |
| Author | CECE, H ISCAN, A CALIK, M SARIKAYA, S KARAKAS, O TUNCER, F. N |
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| Keywords | 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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| SubjectTerms | 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 |
| Title | A CASE OF L-2 HYDROXYGLUTARIC ACIDURIA PRESENTING AS FEBRILE SEIZURE |
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