Jančić Jasna, Dejanović Ivana, Radovanović Saša, Ostojić Jelena, Kozić Duško, Đurić-Jovičić Milica, Samardžić Janko, Ćetković Mila, Kostić Vladimir
Clinic of Neurology and Psychiatry for Children and Youth, Belgrade, Serbia.
Ophthalmologica. 2016;235(1):49-56. doi: 10.1159/000441089. Epub 2015 Nov 6.
We are presenting two Leber's hereditary optic neuropathy (LHON) pedigrees with abnormal magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (H-MRS) findings but without neurological manifestation associated with LHON. The study included 14 LHON patients and 41 asymptomatic family members from 12 genealogically unrelated families. MRI showed white matter involvement and H-MRS exhibited metabolic anomalies within 12 LHON families. Main outcome measures were abnormal MRI and H-MRS findings in two pedigrees. MRI of the proband of the first pedigree showed a single demyelinating lesion in the right cerebellar hemisphere, while the proband of the second family displayed multiple supratentorial and infratentorial lesions, compatible with the demyelinating process, and both the absolute choline (Cho) concentration and Cho/creatinine ratio were increased. MRI and H-MRS profiles of both affected and unaffected mitochondrial DNA mutation carriers suggest more widespread central nervous involvement in LHON. Although even after 12 years our patients did not develop neurological symptoms, MRI could still be used to detect possible changes during the disease progression.
我们展示了两个患有Leber遗传性视神经病变（LHON）的家系，其磁共振成像（MRI）和质子磁共振波谱（H-MRS）检查结果异常，但无与LHON相关的神经学表现。该研究纳入了来自12个无血缘关系家系的14例LHON患者和41名无症状家庭成员。12个LHON家系的MRI显示白质受累，H-MRS显示代谢异常。主要观察指标为两个家系中MRI和H-MRS的异常表现。第一个家系先证者的MRI显示右侧小脑半球有单个脱髓鞘病变，而第二个家系的先证者则显示幕上和幕下有多个病变，符合脱髓鞘过程，且胆碱（Cho）绝对浓度和Cho/肌酐比值均升高。受累和未受累线粒体DNA突变携带者的MRI和H-MRS特征表明LHON患者中枢神经系统受累更为广泛。尽管12年后我们的患者仍未出现神经症状，但MRI仍可用于检测疾病进展过程中的可能变化。
