Martínez-Lage J F, Casas C, Fernández M A, Puche A, Rodriguez Costa T, Poza M
Regional Service of Neurosurgery, University Hospital Virgen de Arrixaca, El Palmar, Murcia, Spain.
Childs Nerv Syst. 1994 Apr;10(3):198-203. doi: 10.1007/BF00301092.
Two siblings presented with macrocephaly, psychomotor delay, and progressive dystonia. The initial diagnosis was of hydrocephalus and bilateral temporal cerebrospinal fluid collections. Following ventriculoperitoneal shunting, the patients showed only modest neurological improvement. Metabolic investigations performed later in the course of the disease disclosed increased levels of glutaric acid in the urine and decreased levels of serum carnitine, which were confirmatory of glutaric aciduria type 1. The association of macrocephaly, dystonia, and bilateral temporal arachnoid cysts, shown either by computed tomography or magnetic resonance imaging, seems to be diagnostic of glutaric aciduria type 1. The authors report these two cases as they think they might be of interest to neurosurgeons.
两名兄弟姐妹出现巨头畸形、精神运动发育迟缓及进行性肌张力障碍。最初诊断为脑积水和双侧颞部脑脊液聚集。脑室腹腔分流术后，患者仅显示出轻微的神经功能改善。在疾病过程后期进行的代谢检查发现尿中戊二酸水平升高，血清肉碱水平降低，这证实了1型戊二酸尿症。计算机断层扫描或磁共振成像显示的巨头畸形、肌张力障碍和双侧颞部蛛网膜囊肿的关联似乎可诊断为1型戊二酸尿症。作者报告这两例病例，因为他们认为神经外科医生可能会对此感兴趣。
