Sheffer R N, Zlotogora J, Elpeleg O N, Raz J, Ben-Ezra D
Department of Human Genetics, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
Am J Ophthalmol. 1992 Oct 15;114(4):494-7. doi: 10.1016/s0002-9394(14)71864-1.
We examined three patients from two families of Jewish-Iraqi origin who had progressive reduction of visual acuity and childhood onset of bilateral optic nerve atrophy without additional retinal abnormalities. They had neurologic symptoms compatible with Behr's syndrome. Neurologic signs included increased tendon reflexes, a positive Babinski sign, progressive spastic paraplegia, dysarthria, head nodding, and horizontal nystagmus. Neurologic involvement varied between affected siblings. The patients excreted excessive amounts of 3-methylglutaconic acid and 3-methylglutaric acid in their urine. We compared the characteristic ophthalmic features and the spectrum of neurologic signs encountered in this recently delineated autosomal recessive clinical entity with those of previously described entities associated with 3-methylglutaconic aciduria. Patients with early-onset optic atrophy should be examined for neurologic signs and screened for organic aciduria. A detailed ophthalmic examination is important in patients with neurologic abnormalities compatible with Behr's syndrome.
我们检查了来自两个伊拉克犹太裔家族的三名患者，他们视力逐渐下降，童年时双侧视神经萎缩，无其他视网膜异常。他们有与贝赫综合征相符的神经症状。神经体征包括腱反射亢进、巴宾斯基征阳性、进行性痉挛性截瘫、构音障碍、点头和水平眼球震颤。受累兄弟姐妹的神经受累情况各不相同。这些患者尿液中排泄过量的3-甲基戊二酸和3-甲基谷氨酸。我们将这种最近描述的常染色体隐性临床病症中遇到的特征性眼科特征和神经体征谱与先前描述的与3-甲基戊二酸尿症相关的病症进行了比较。早发性视神经萎缩患者应检查神经体征并筛查有机酸尿症。对于有与贝赫综合征相符的神经异常的患者，详细的眼科检查很重要。
