Nye George J, Major Alison C, Liebel Francois X
School of Veterinary Science, Langford Small Animal Hospital, University of Bristol, Bristol, UK.
JFMS Open Rep. 2019 Jun 18;5(1):2055116919853898. doi: 10.1177/2055116919853898. eCollection 2019 Jan-Jun.
A 14-month-old male castrated domestic shorthair cat, which 2 months prior to presentation underwent hindlimb amputation following a road traffic accident, presented for investigation of four suspected generalised tonic-clonic seizures. Neurological examination was unremarkable. Routine blood work (haematology, biochemistry, ammonia, preprandial bile acids) was unremarkable. MRI of the brain identified marked symmetrical T2-weighted hyperintensities of the cerebellum and brainstem, mainly affecting the grey matter. Urine amino acid and mucopolysaccharide levels were unremarkable. Urine organic acids on two separate samples, 35 days apart, identified highly increased excretion of 2-hydroxyglutaric acid, indicative of 2-hydroxyglutaric aciduria. The cat was started on anticonvulsant therapy with phenobarbitone, which, at the point of writing, has improved seizure control, although the cat has not achieved seizure freedom.
This case report describes the first reported case of a 2-hydroxyglutaric aciduria, an inherited neurometabolic disorder, as a cause for seizure-like episodes in a cat.
一只14个月大的去势家养短毛猫，在就诊前2个月因交通事故接受了后肢截肢手术，此次因4次疑似全身性强直阵挛性癫痫发作前来接受检查。神经系统检查无异常。常规血液检查（血液学、生物化学、氨、餐前胆汁酸）无异常。脑部MRI显示小脑和脑干T2加权像有明显对称性高信号，主要影响灰质。尿氨基酸和粘多糖水平无异常。间隔35天采集的两份尿液样本进行有机酸检测，结果显示2-羟基戊二酸排泄量大幅增加，提示患有2-羟基戊二酸尿症。这只猫开始使用苯巴比妥进行抗惊厥治疗，在撰写本文时，癫痫发作得到了改善，尽管尚未完全控制发作。
本病例报告描述了首例报道的2-羟基戊二酸尿症病例，这是一种遗传性神经代谢疾病，可导致猫出现类似癫痫发作的症状。
