Woelfle J, Kreft B, Emons D, Haverkamp F
Zentrum für Kinderheilkunde, Rhein. Friedrich-Wilhelms-Universität, Adenauerallee 119, D-53113 Bonn, Germany.
Pediatr Radiol. 1996 Nov;26(11):779-81. doi: 10.1007/BF01396200.
The case of a 9-month-old girl with glutaric aciduria type 1 (GA 1) is reported. On initial presentation at 6 months of age, the patient demonstrated bilateral subdural hemorrhages and widening of the basal cisterns. After neurosurgical intervention the subdural effusions regressed; their etiology remained unclear. At the age of 9 months the patient presented again because of progressive loss of psychomotor abilities and a dystonic movement disorder. Cerebral MRI revealed regressive subdural hematoma, but marked frontotemporal atrophy as well. Because of a suspected metabolic disorder, urinary analysis of organic acids was performed. This repeatedly showed marked excretion of glutaric acid, 3-hydroxyglutaric acid and glutaconic acid, indicating a diagnosis of GA 1. Considering our patient's history, we recommend the inclusion of GA 1 in the differential diagnosis of patients with unexplained subdural hematoma and neurological deficits.
报告了一例1型戊二酸血症(GA 1)的9个月大女童病例。该患者6个月大初次就诊时,表现为双侧硬膜下出血和基底池增宽。神经外科干预后硬膜下积液消退;但其病因仍不清楚。9个月大时,患者因精神运动能力逐渐丧失和张力障碍性运动障碍再次就诊。脑部磁共振成像(MRI)显示硬膜下血肿消退,但也有明显的额颞叶萎缩。由于怀疑存在代谢紊乱,进行了有机酸尿液分析。结果反复显示戊二酸、3-羟基戊二酸和戊烯二酸排泄显著增加,提示诊断为GA 1。结合我们患者的病史,我们建议在不明原因硬膜下血肿和神经功能缺损患者的鉴别诊断中纳入GA 1。