Glutaric aciduria type I: A neuroimaging diagnosis?

被引：10

作者：

Santos, CC ^{[1
]}

Roach, S ^{[1
]}

机构：

[1] Wake Forest Univ, Bowman Gray Sch Med, Dept Neurol, Sect Child Neurol, Winston Salem, NC 27157 USA

来源：

JOURNAL OF CHILD NEUROLOGY | 2005年 / 20卷 / 07期

关键词：

D O I：

10.1177/08830738050200070901

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Glutaric aciduria type I is an autosomal recessive disorder of organic acid metabolism secondary to glutaryl-coenzyme A (CoA) dehydrogenase deficiency. We report a previously healthy 17-month-old girl who presented with acute dystonia. Conventional T-2-weighted and fluid-attenuated inversion recovery magnetic resonance images of the brain showed hyperintensity in the caudates and putamina bilaterally with subtle involvement of the medial frontal lobes. Diffusion-weighted magnetic resonance images showed striking restricted diffusion in the caudates and putamina consistent with acute necrosis. Single-voxel hydrogen magnetic resonance spectroscopy of the involved areas was normal. The clinical diagnosis of glutaric aciduria type I was confirmed by elevation of 3-hydroxyglutaric and glutaric acids. Diffusion-weighted magnetic resonance imaging is a sensitive indicator of basal ganglia necrosis in glutaric aciduria, type I.

引用

页码：588 / 590

页数：3

共 7 条

[1] Glutaric aciduria type I - Value of diffusion-weighted magnetic resonance imaging for diagnosing acute striatal necrosis
Elster, AW
[J]. JOURNAL OF COMPUTER ASSISTED TOMOGRAPHY, 2004, 28 (01) : 98 - 100
[2] Intraretinal hemorrhages and chronic subdural effusions - Glutaric aciduria type 1 can be mistaken for shaken baby syndrome
Gago, LC
Wegner, RK
Capone, A
Williams, GA
[J]. RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 2003, 23 (05): : 724 - 726
[3] The striatum is the most vulnerable region in the brain to mitochondrial energy compromise: A hypothesis to explain its specific vulnerability
Nishino, H
Hida, H
Kumazaki, M
Shimano, Y
Nakajima, K
Shimizu, H
Ooiwa, T
Baba, H
[J]. JOURNAL OF NEUROTRAUMA, 2000, 17 (03) : 251 - 260
[4] Ricci PE, 1999, AM J NEURORADIOL, V20, P1535
[5] Type I glutaric aciduria, part 1: Natural history of 77 patients
Strauss, KA
Puffenberger, EG
Robinson, DL
Morton, DH
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2003, 121C (01): : 38 - 52
[6] Type I glutaric aciduria, part 2: A model of acute striatal necrosis
Strauss, KA
Morton, DH
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2003, 121C (01) : 53 - 70
[7] Neuroimaging findings in glutaric aciduria type 1
Twomey, EL
Naughten, ER
Donoghue, VB
Ryan, S
[J]. PEDIATRIC RADIOLOGY, 2003, 33 (12) : 823 - 830

← 1 →