Osaka H, Kimura S, Nezu A, Yamazaki S, Saitoh K, Yamaguchi S
Department of Pediatrics, Yokohoma City University School of Medicine, Japan.
Brain Dev. 1993 Mar-Apr;15(2):125-7. doi: 10.1016/0387-7604(93)90049-e.
A 10-month-old male with glutaric aciduria type-1 (GA-1) is reported. This patient showed frequent partial motor seizures, irritability, and involuntary movements, including oral dyskinesia at the age of 3 months. On admission, magnetic resonance (MR) scanning revealed a chronic subdural hematoma and widening of the bilateral insular cisterns. Urine organic acid analysis showed marked excretion of glutaric acid, 3-hydroxy glutaric acid and glutaconic acid, suggesting GA-1. Removal of the subdural hematoma was effective for the irritability but not for the extrapyramidal signs. This is the first report of a subdural hematoma as an initial symptom in a patient with GA-1. However, the complication of subdural fluid collection in GA-1 is not rare. To our knowledge, of 29 patients with GA-1 who underwent computed tomographic or MR scans, 5 had subdural fluid collection. Disproportional hypoplasia of the temporal lobes may be a suggestive etiology of subdural fluid collection/chronic subdural hematoma.
报告了一名10个月大的患有1型戊二酸尿症(GA-1)的男性患儿。该患者在3个月大时出现频繁的部分运动性癫痫发作、易激惹和不自主运动,包括口部运动障碍。入院时,磁共振(MR)扫描显示慢性硬膜下血肿和双侧岛叶脑池增宽。尿有机酸分析显示戊二酸、3-羟基戊二酸和戊烯二酸明显排泄增加,提示为GA-1。硬膜下血肿清除术对易激惹有效,但对锥体外系症状无效。这是GA-1患者以硬膜下血肿为首发症状的首例报告。然而,GA-1患者并发硬膜下积液并不罕见。据我们所知,在29例接受计算机断层扫描或MR扫描的GA-1患者中,有5例出现硬膜下积液。颞叶发育不全不成比例可能是硬膜下积液/慢性硬膜下血肿的一个提示性病因。