Kaur Gunjanpreet, Ganev Yoan, Rodriguez Wilson, Tseng Shannon, Orozco Lissette, Chand Pratap
Neurology, Saint Louis University School of Medicine, Saint Louis, USA.
Internal Medicine, St. Joseph Mercy Ann Arbor Hospital, Ann Arbor, USA.
Cureus. 2024 Apr 14;16(4):e58255. doi: 10.7759/cureus.58255. eCollection 2024 Apr.
Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder that presents with acute to subacute onset of unilateral progressive optic neuropathy, with sequential involvement of the fellow eye months to years later. The condition may be accompanied by neurological symptoms, including tremors, dystonia, seizures, or psychosis, in which case, it is termed LHON-plus. Here, we present the case of a 53-year-old man who was initially diagnosed with essential tremor but was later found to have LHON-plus after the onset of bilateral visual loss and a genetic panel. His essential tremor was refractory to standard pharmacological therapies, including propranolol, primidone, and topiramate. As a result, he elected to undergo bilateral deep brain stimulation (DBS) of the bilateral ventral intermediate nucleus of the thalamus with a dramatic improvement in symptoms. To our knowledge, this is the first case of essential tremor presenting in the context of LHON-plus to be treated successfully with DBS. While DBS has been applied in LHON-plus presenting with dystonia with limited success, our outcome suggests that there is promise in this approach and that more research is needed to evaluate it.
Leber遗传性视神经病变（LHON）是一种线粒体疾病，表现为单侧进行性视神经病变急性至亚急性发作，数月至数年后对侧眼相继受累。该病可能伴有神经症状，包括震颤、肌张力障碍、癫痫发作或精神病，在这种情况下，称为LHON叠加综合征。在此，我们报告一例53岁男性病例，该患者最初被诊断为特发性震颤，但在出现双侧视力丧失并进行基因检测后，后来被发现患有LHON叠加综合征。他的特发性震颤对包括普萘洛尔、扑米酮和托吡酯在内的标准药物治疗无效。因此，他选择接受双侧丘脑腹中间核的深部脑刺激（DBS），症状得到显著改善。据我们所知，这是首例在LHON叠加综合征背景下出现的特发性震颤通过DBS成功治疗的病例。虽然DBS已应用于伴有肌张力障碍的LHON叠加综合征，但效果有限，我们的结果表明这种方法有前景，需要更多研究来评估它。
