Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
Small Animal Hospital, School of Biodiversity, One Health and Veterinary Medicine, University of Glasgow, Glasgow, UK.
J Vet Intern Med. 2023 Mar;37(2):676-680. doi: 10.1111/jvim.16675. Epub 2023 Mar 7.
A 9-month-old intact male domestic shorthair cat was evaluated for increasing frequency of generalized tonic-clonic seizures.
The cat was reported to have had episodes of circling between the seizures. Upon examination, the cat had bilateral inconsistent menace response but otherwise normal physical and neurological examinations.
Magnetic resonance imaging (MRI) of the brain identified multifocal, small, rounded intra-axial lesions within the subcortical white matter containing fluid with similar characteristics as cerebrospinal fluid. Evaluation of urine organic acids showed increased excretion of 2-hydroxyglutaric acid. An XM_023255678.2:c.397C>T nonsense variant in the L2HGDH gene encoding L-2-hydroxyglutarate dehydrogenase was identified using whole genome sequencing.
Levetiracetam treatment was initiated at 20 mg/kg PO q8h, but the cat died after a seizure 10 days later.
We report the second pathogenic gene variant in L-2-hydroxyglutaric aciduria in cats and describe for the first time multicystic cerebral lesions on MRI.
一只 9 月龄、未去势的雄性家短毛猫，因全身性强直-阵挛性癫痫发作频率增加而就诊。
据报道，该猫在癫痫发作之间有过转圈的情况。检查时，该猫双侧威胁反应不一致，但其他身体和神经检查均正常。
脑部磁共振成像（MRI）发现皮质下白质内有多发性、小的、圆形的脑内病灶，其内含有与脑脊液特征相似的液体。尿液有机酸分析显示 2-羟基戊二酸排泄增加。全基因组测序发现 L2HGDH 基因（编码 L-2-羟戊二酸脱氢酶）的 XM_023255678.2:c.397C>T 无义变异。
给予左乙拉西坦 20mg/kg，口服，每 8 小时 1 次，但在 10 天后的一次癫痫发作后，该猫死亡。
我们报道了猫 L-2-羟戊二酸尿症的第二个致病性基因突变，并首次在 MRI 上描述了多房性脑病变。
