Evolution of brain imaging abnormalities in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes

被引：27

作者：

Bi, Kenya Linda

Baehring, Joachim M.

Lesser, Robert L.

机构：

[1] Yale Sch Med, Dept Neurobiol, New Haven, CT USA

[2] Yale Sch Med, Dept Neurol, New Haven, CT USA

[3] Yale Sch Med, Dept Neurosurg, New Haven, CT USA

[4] Yale Sch Med, Dept Ophthalmol & Visual Sci, New Haven, CT USA

来源：

JOURNAL OF NEURO-OPHTHALMOLOGY | 2006年 / 26卷 / 04期

关键词：

D O I：

10.1097/01.wno.0000249317.81367.3d

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

An 18-year-old man developed consecutive homonymous hemianopias that were eventually attributed to mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS). the diagnosis was initially suspected when brain CT scans showed bilateral dystrophic basal ganglia calcifications and MR spectroscopy later showed a prominent lactate peak. Diffusion-weighted MRI showed progressive evolution of restricted proton diffusion at the margins of the lesion from day 3 through 3 weeks. Genetic testing from peripheral blood confirmed an A3243G transition in the patient's MTTL1 gene encoding the transfer RNA for leucine. The patient's visual function improved, but severe atrophy of gray and white matter was visible on MRI.

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页码：251 / 256

页数：6

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