Calik M, Tuncer F N, Sarikaya S, Karakas O, Cece H, Iscan A
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.
L-2-羟基戊二酸尿症（L2HGA）是一种罕见的、婴儿期起病的常染色体隐性有机酸尿症，仅影响中枢神经系统。本文报告一例表现为巨头畸形和热性惊厥的L2HGA病例。虽然已有L2HGA相关癫痫的报道，但据我们所知，这是文献中第二例L2HGA患者出现热性惊厥的病例。本报告提示，对热性惊厥的巨头畸形儿童进行详细的神经学评估很重要。此外，这类患者可能需要进行代谢和基因检查。
