Paquay Stéphanie, Benoit Valérie, Wetzburger Catherine, Cordonnier Monique, Meire Françoise, Charon Anne, Roland Dominique, Van Coster Rudy, Nassogne Marie-Cécile, Maystadt Isabelle
Service de Neurologie Pédiatrique, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium
Département de Biologie Moléculaire, Institut de Pathologie et de Génétique, Gosselies, Belgium.
J Child Neurol. 2014 Aug;29(8):NP18-23. doi: 10.1177/0883073813492895. Epub 2013 Jul 17.
Leber hereditary optic neuropathy is a well-known mitochondrial disorder that leads to bilateral subacute visual failure. Although visual impairment is often the sole clinical feature, additional and severe neurologic abnormalities also have been documented for this disease. We report on a 13-year-old boy who has presented with severe visual failure since early childhood in a context of prematurity. In the first years of his life, clinical features included delayed psychomotor development and ataxia. The clinical presentation, which was initially attributed to prematurity, worsened thereafter, and the child developed acute neurologic degradation with the typical radiological findings of Leigh syndrome. The mitochondrial DNA point mutation 11778G>A was identified in the ND4 gene. The probable influence of environmental background on clinical expression of Leber optic neuropathy, particularly those of prematurity and oxygen therapy, is discussed in our manuscript.
Leber遗传性视神经病变是一种著名的线粒体疾病，可导致双侧亚急性视力丧失。尽管视力损害通常是唯一的临床特征，但该疾病也有其他严重神经异常的记录。我们报告一名13岁男孩，自幼儿期起即在早产背景下出现严重视力丧失。在其生命的最初几年，临床特征包括精神运动发育迟缓及共济失调。临床表现最初归因于早产，此后病情恶化，患儿出现急性神经功能退化，并伴有Leigh综合征典型的影像学表现。在ND4基因中鉴定出线粒体DNA点突变11778G>A。我们的手稿讨论了环境背景对Leber视神经病变临床表型的可能影响，尤其是早产和氧疗的影响。
