Casella E B, Bresolin A U, Valente M, Daniel D A, Machado J J, Vieira M A, Tenório A G, Chamoles N
Instituto da Criança do Hospital das Clínica (HC), Faculdade de Medicina, Universidade de São Paulo (FMUSP), Brasil. erasmobc-icr.hcnet.usp.br
Arq Neuropsiquiatr. 1998 Sep;56(3B):545-52. doi: 10.1590/s0004-282x1998000400005.
We report six patients with glutaric aciduria type 1 in four families. The patients had marked clinical variability, even within families. Three of the patients studied were normal until the onset of neurologic abnormalities, that presented as an encephalitis-like illness in the first year of age. One patient had an early and important developmental delay, but never suffered an encephalopathic crisis. Two patients have intellectual preservation; one of them has a mild tremor and choreoathetosis since the first year of age, and the other had only two afebrile seizures in infancy and no other neurologic signs. Three patients are severely handicapped, with a severe dystonic-dyskinetic disorder and unable to even sit. All the six patients have macrocephaly and in all the computed tomography showed enlarged CSF spaces and sulcal separation over the frontal and temporal lobes. Urine organic acids study of all patients showed large quantities of glutaric acid.
我们报告了来自四个家庭的6例1型戊二酸尿症患者。这些患者具有显著的临床变异性，即使在家族内部也是如此。接受研究的患者中有3例在出现神经异常之前发育正常，神经异常在1岁时表现为类似脑炎的疾病。1例患者有早期且严重的发育迟缓，但从未发生过脑病危象。2例患者智力保留；其中1例从1岁起就有轻度震颤和舞蹈手足徐动症，另1例在婴儿期仅发生过2次无热惊厥，无其他神经体征。3例患者严重残疾，患有严重的张力障碍-运动障碍，甚至无法坐立。所有6例患者均有巨头症，所有计算机断层扫描均显示脑脊液间隙增宽以及额叶和颞叶脑沟分离。对所有患者进行的尿有机酸研究均显示大量戊二酸。
