Year: 2025
Type: article
Study design: Case Report
Abstract: This case describes a woman in her 30s who was diagnosed with Leber hereditary optic neuropathy (LHON), a genetic disorder causing vision loss associated with mitochondrial DNA mutations. Initially diagnosed in childhood, she also developed epilepsy in adolescence. Despite treatment with multiple anticonvulsants, her initial seizures were only partially controlled. Brain MRI and scalp EEG results indicated left temporal lobe epilepsy, and she ceased seizures after modification of her anticonvulsant medication regimen. This rare comorbidity highlights the complexity of LHON, which often presents with additional neurological symptoms beyond vision loss. It underscores the need for comprehensive treatment and further research into mitochondrial diseases and their broader neurological impact.
Source: Cureus
DOI: 10.7759/cureus.86663
Authors: Emilio García Gómez, Daniel San-Juan, Lenin Sandoval Luna, Miguel Angel Morales Morales
Institution: Instituto Nacional de Neurología y Neurocirugía
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4411583299