Badve Monica S, Bhuta Sandeep, Mcgill Jim
Gold Coast University Hospital, Level 5, A-Block, 1 Hospital Boulevard, Southport, QLD 4215, Australia.
N Z Med J. 2015 Feb 20;128(1409):61-4.
A 32-year-old female patient presented with migraine and a bipolar disorder with frontal lobe dysfunction and bilateral pyramidal tract signs on examination. MRI brain revealed confluent bilateral symmetric white matter signal abnormality on T2 and FLAIR images with mild cerebral atrophy. Classic widening of Sylvian fissures and CSF space anterior to temporal lobes was seen. In view of the clinical and radiologic findings suggestive of a leukodystrophy, she was investigated for the same. Her investigations revealed an high level of urinary glutaric acid 857 mmol/mol creatinine (normal <4mmol/mol creatinine) and 3-hydroxyglutaric acid 44 mmol/mol creatinine (normal <1 mmol/mol creatinine) and plasma glutaryl carnitine 1.2 micromol/L; (normal <0.34 micromol/L). This was diagnostic of glutaric aciduria type 1. She was started on L-carnitine with which she showed clinical improvement. Testing for urinary organic acids is important when looking for treatable metabolic disorders (such as glutaric aciduria type I) in patients with leukodystrophy.
一名32岁女性患者表现为偏头痛和双相情感障碍，检查发现有额叶功能障碍和双侧锥体束征。脑部MRI显示，在T2和液体衰减反转恢复序列（FLAIR）图像上，双侧白质信号呈融合性对称异常，伴有轻度脑萎缩。可见大脑外侧裂和颞叶前方脑脊液间隙典型增宽。鉴于临床和影像学表现提示为脑白质营养不良，对其进行了相关检查。检查发现其尿中戊二酸水平为857微摩尔/摩尔肌酐（正常<4微摩尔/摩尔肌酐），3-羟基戊二酸水平为44微摩尔/摩尔肌酐（正常<1微摩尔/摩尔肌酐），血浆戊二酰肉碱水平为1.2微摩尔/升（正常<0.34微摩尔/升）。这确诊为1型戊二酸尿症。她开始服用左旋肉碱，病情有了临床改善。在为患有脑白质营养不良的患者寻找可治疗的代谢紊乱疾病（如1型戊二酸尿症）时，检测尿有机酸很重要。
