Sztriha László, Gururaj Aithala, Vreken Peter, Nork Michael, Lestringant Gilles
Department of Pediatrics, Faculty of Medicine and Health Sciences; United Arab Emirates University, Al Ain, United Arab Emirates.
Pediatr Neurol. 2002 Aug;27(2):141-4. doi: 10.1016/s0887-8994(02)00405-8.
Two Pakistani siblings with L-2-hydroxyglutaric aciduria are reported herein. A 6-year-old male and a 2-year-old female, born to consanguineous parents, had chronic slowly progressive neurodegenerative disorder with insidious onset after infancy. Mental regression and seizures were evident in both patients, whereas cerebellar dysfunction was the main motor handicap in the male and pyramidal symptoms were prominent in the female. Magnetic resonance imaging revealed bilateral symmetrical abnormal signal in the subcortical white matter, internal and external capsules, basal ganglia, and dentate nuclei. The underlying metabolic defect, which is likely inherited in an autosomal recessive mode, remains unknown in this disorder.
本文报道了两名患有L-2-羟基戊二酸尿症的巴基斯坦兄妹。这对兄妹的父母为近亲结婚，哥哥6岁，妹妹2岁，他们在婴儿期后起病隐匿，患有慢性进行性神经退行性疾病。两名患者均有智力衰退和癫痫发作，而小脑功能障碍是哥哥的主要运动障碍，锥体症状在妹妹身上较为突出。磁共振成像显示双侧皮质下白质、内囊和外囊、基底神经节以及齿状核有对称异常信号。这种潜在的代谢缺陷可能以常染色体隐性模式遗传，在该疾病中仍不明。
