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Posterior Reversible Encephalopathy Syndrome in a Leber Hereditary Optic Neuropathy Patient With Mitochondrial DNA 11778G > A Point Mutation

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收录情况： ◇ SCIE

作者：

机构： [1]Departments of Neurology,Xuan Wu Hospital, Capital Medical University,Beijing, China [2]Departments of Ophthalmology,Xuan Wu Hospital, Capital Medical University,Beijing, China [3]Departments of Radiology,Xuan Wu Hospital, Capital Medical University,Beijing, China.

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摘要：

Leber hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disorder that primarily affects the optic nerve. We report a case of reduced visual acuity secondary to optic atrophy in a 13-year-old boy. Transient seizures developed subsequently. Serial magnetic resonance imaging of the brain showed posterior reversible encephalopathy syndrome. Ragged red fibers were not detected on skeletal muscle biopsy. A 11778G>A mitochondrial DNA point mutation was identified in the lymphocytes isolated from peripheral blood. His younger brother was a carrier with the same mutation. The presentation of this case is unusual documenting LHON in association with PRES.

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出版当年[2012]版：

大类 | 4 区医学

小类 | 4 区临床神经病学 4 区眼科学

最新[2023]版：

大类 | 4 区医学

小类 | 3 区眼科学 4 区临床神经病学

JCR分区：

出版当年[2011]版：

Q3 OPHTHALMOLOGY Q3 CLINICAL NEUROLOGY

最新[2023]版：

Q2 OPHTHALMOLOGY Q3 CLINICAL NEUROLOGY

影响因子： 2.2 最新[2023版] 2.6 最新五年平均 1.448 出版当年[2011版] 1.42 出版当年五年平均 1.059 出版前一年[2010版] 1.628 出版后一年[2012版]

第一作者：

第一作者机构： [1]Departments of Neurology,Xuan Wu Hospital, Capital Medical University,Beijing, China

通讯作者：

通讯机构： [*1]Department of Neurology, Xuan Wu Hospital, Capital Medical University, Beijing 100053, China

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