Saifullina E V, Zakharova E Yu, Kurkina M V, Magzhanov R V, Gaisina E V, Zakirova E N
Bashkir State Medical University, Ufa, Russia.
Research Centre of Medical Genetics, Moscow, Russia.
Zh Nevrol Psikhiatr Im S S Korsakova. 2017;117(4):81-85. doi: 10.17116/jnevro20171174181-85.
The authors present a case-report of 13 year-old girl with L-2-hydroxyglutaric aciduria [MIM#236792], a rare autosomal/recessive metabolic disorder caused by mutations in the L-encoding 2-hydroxyglutarate dehydrogenase (L2HGDH, 14q21.3). Clinical signs of the disease are presented by predominantly neurological symptoms (epilepsy, cerebellar ataxia, cognitive impairment). The distinctive feature is the specific multifocal lesion of the white matter detected on MRI. The characteristic neuroimaging picture and positive results of biochemical and molecular genetic diagnosis were identified.
作者报告了一例13岁患L-2-羟基戊二酸尿症[MIM#236792]的女孩病例，这是一种由编码L-2-羟基戊二酸脱氢酶（L2HGDH，位于14q21.3）的基因突变引起的罕见常染色体隐性代谢紊乱疾病。该疾病的临床症状主要为神经学症状（癫痫、小脑共济失调、认知障碍）。其显著特征是在磁共振成像（MRI）上检测到的白质特异性多灶性病变。确定了特征性的神经影像学表现以及生化和分子遗传学诊断的阳性结果。
