CT and MRI in a girl with late-onset ornithine transcarbamylase deficiency: Case report

被引：17

作者：

Bajaj, SK

Kurlemann, G

Schuierer, GS

Peters, PE

机构：

[1] UNIV HOSP MUNSTER,DEPT CLIN RADIOL,D-48129 MUNSTER,GERMANY

[2] UNIV HOSP MUNSTER,DEPT NEUROPAEDIAT,D-48129 MUNSTER,GERMANY

来源：

NEURORADIOLOGY | 1996年 / 38卷 / 08期

关键词：

ornithine transcarbamylase deficiency; computed tomography; magnetic resonance imaging;

D O I：

10.1007/s002340050351

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report CT and MRI findings in a girl with late-onset ornithine transcarbamylase deficiency, who presented with progressive somnolence. Both imaging methods showed signs of an acute cerebral ischaemia with new defects on follow-up. Despite an unusual clinical presentation, laboratory studies led to the diagnosis of this rare inherited metabolic defect.

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收藏

页码：796 / 799

页数：4

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