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一名患有丙酸血症患者的急性婴儿偏瘫。

Acute infantile hemiplegia in a patient with propionic acidaemia.

作者信息

Shigematsu Y, Mori I, Nakai A, Kikawa Y, Kuriyama M, Konishi Y, Fujii T, Sudo M

机构信息

Department of Paediatrics, Fukui Medical School, Japan.

出版信息

Eur J Pediatr. 1990 Jun;149(9):659-60. doi: 10.1007/BF02034758.

DOI:10.1007/BF02034758
PMID:2373122
Abstract

A 10-month-old girl with mild developmental delay became hemiplegic after seizures. Cranial CT scan and magnetic resonance imaging (MRI) revealed no lesions related to vascular diseases, but brain atrophy on the right side was remarkable. Digital subtraction angiography showed slightly decreased visualization of peripheral branches of the right medial cerebral artery. Propionic acidaemia was diagnosed on the basis of high plasma levels of propionic acid and its metabolites and the elevated urinary excretion of these acids. With therapy, the levels of these acids fell, and her left hemiplegia disappeared 3 months later.

摘要

一名10个月大、有轻度发育迟缓的女孩在癫痫发作后出现偏瘫。头颅CT扫描和磁共振成像(MRI)未发现与血管疾病相关的病变,但右侧脑萎缩明显。数字减影血管造影显示右侧大脑中动脉外周分支的显影略有减少。根据血浆中丙酸及其代谢产物水平升高以及这些酸在尿液中的排泄增加,诊断为丙酸血症。经过治疗,这些酸的水平下降,3个月后她的左侧偏瘫消失。

相似文献

1
Acute infantile hemiplegia in a patient with propionic acidaemia.一名患有丙酸血症患者的急性婴儿偏瘫。
Eur J Pediatr. 1990 Jun;149(9):659-60. doi: 10.1007/BF02034758.
2
Cardiomyopathy in propionic acidaemia.丙酸血症中的心肌病
Eur J Pediatr. 1993 May;152(5):441-5. doi: 10.1007/BF01955907.
3
Propionic acidaemia. First case in the Finnish population.
Ann Clin Res. 1983;15(5-6):194-6.
4
Propionic acidaemia presenting with pancytopaenia in infancy.婴儿期丙酸血症伴全血细胞减少症
J Inherit Metab Dis. 1980;2(3):65-9. doi: 10.1007/BF01801721.
5
An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis.
Eur J Pediatr. 1998 Jan;157(1):50-2. doi: 10.1007/s004310050765.
6
Normal growth and development with unrestricted protein intake after severe infantile propionic acidaemia.严重婴儿丙酸血症后蛋白质摄入不受限情况下的正常生长发育。
J Inherit Metab Dis. 1989;12(3):307-11. doi: 10.1007/BF01799222.
7
Cardiomyopathy in propionic acidaemia.
Eur J Pediatr. 1994 Jan;153(1):53. doi: 10.1007/BF02000791.
8
The effect of intravenous L-carnitine on propionic acid excretion in acute propionic acidaemia.静脉注射L-肉碱对急性丙酸血症患者丙酸排泄的影响。
Eur J Pediatr. 1984 Nov;143(1):61-3. doi: 10.1007/BF00442751.
9
Methylmalonic aciduria and propionic acidaemia studied by proton nuclear magnetic resonance spectroscopy.通过质子核磁共振波谱法研究甲基丙二酸尿症和丙酸血症。
Clin Chim Acta. 1986 Dec 15;161(2):173-89. doi: 10.1016/0009-8981(86)90211-1.
10
Acute pancreatitis in propionic acidaemia.
J Inherit Metab Dis. 1995;18(2):169-72. doi: 10.1007/BF00711758.

引用本文的文献

1
Metabolic Strokes in Propionic Acidemia: Transient Hemiplegic Events Without Encephalopathy.丙酸血症中的代谢性中风:无脑病的短暂性偏瘫事件。
Child Neurol Open. 2019 Sep 3;6:2329048X19873242. doi: 10.1177/2329048X19873242. eCollection 2019.
2
L-Carnitine.左旋肉碱
Arch Dis Child. 1996 Jun;74(6):475-8. doi: 10.1136/adc.74.6.475.
3
Acylcarnitine profile in tissues and body fluids of biotin-deficient rats with and without L-carnitine supplementation.补充和未补充左旋肉碱的生物素缺乏大鼠的组织和体液中的酰基肉碱谱。

本文引用的文献

1
Changing plasma and urinary organic acid levels in a patient with isovaleric acidemia during an attack.异戊酸血症患者发作期间血浆和尿液有机酸水平的变化
Pediatr Res. 1982 Sep;16(9):771-5. doi: 10.1203/00006450-198209000-00013.
2
Propionic acidemia: a clinical update.丙酸血症:临床最新进展
J Pediatr. 1981 Dec;99(6):835-46. doi: 10.1016/s0022-3476(81)80004-2.
3
The neuropathology of propionic acidemia.丙酸血症的神经病理学
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Dev Med Child Neurol. 1983 Feb;25(1):87-94. doi: 10.1111/j.1469-8749.1983.tb13725.x.
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Cerebellar hemorrhage complicating methylmalonic and propionic acidemia.甲基丙二酸血症和丙酸血症并发小脑出血。
Arch Neurol. 1984 Dec;41(12):1293-6. doi: 10.1001/archneur.1984.04050230079025.
5
Cerebral CT findings in methylmalonic acid propionic acidemias.甲基丙二酸血症和丙酸血症的脑部CT表现
AJNR Am J Neuroradiol. 1983 Jul-Aug;4(4):955-7.
6
Acute extrapyramidal syndrome in methylmalonic acidemia: "metabolic stroke" involving the globus pallidus.甲基丙二酸血症中的急性锥体外系综合征:累及苍白球的“代谢性卒中”
J Pediatr. 1988 Dec;113(6):1022-7. doi: 10.1016/s0022-3476(88)80574-2.
7
Effect of 2-methylcitrate on citrate metabolism: implications for the management of patients with propionic acidemia and methylmalonic aciduria.2-甲基柠檬酸对柠檬酸代谢的影响:对丙酸血症和甲基丙二酸尿症患者管理的启示
Pediatr Res. 1975 Dec;9(12):905-8. doi: 10.1203/00006450-197512000-00008.