Adult-onset status epilepticus in patients with COQ8A coenzyme Q10 deficiency: A case series

• DOI: 10.1016/j.ebr.2024.100716
• Publication Date: 2024-10-06T13:54:40Z
• Authors: Panagiota-Eleni T...; Clara Juenemann; Wiebke Hahn; Felix Zahnert; Leona Möller; Lukas Hakel; André Kemmling; Katja Menzler; Ole J. Simon; Lars Timmermann; Susanne Knake; Felix Bernhard
• Keywords: Coenzyme Q10

This case series describes the clinical features, diagnostic challenges, treatment approaches, and outcomes of three adult patients with COQ8A-related CoQ10 deficiency presenting focal status epilepticus, who were effectively treated at Department Neurology, Philipps University Marburg, Germany. The patients, all from consanguineous families first two being siblings, presented a late onset disease, characterized by progressive cerebellar ataxia epilepsy, deterioration epilepticus occurring in adulthood. patient exhibited myoclonic status, while second third bilateral tonic-clonic seizures followed manifesting cortical blindness. Despite differing semiologies, displayed similar EEG findings continuous or nearly occipital sharp waves spikes. MRI revealed changes Diffusion-Weighted Imaging (DWI) Fluid Attenuated Inversion Recovery (FLAIR) sequences. Significant improvement was observed following high doses CoQ10, diffusion restriction abnormalities reversible after therapy. In conclusion, consistent existing literature, we characteristic pattern that can help identify disease facilitate early diagnosis treatment. on therapy, proved beneficial even cases epilepticus.