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Updated: Jun 18, 2026
08:23
A Multimodal Imaging- and Stimulation-based Method of Evaluating Connectivity-related Brain Excitability in Patients with Epilepsy
Published on: November 13, 2016
Epilepsia partialis continua in mitochondrial dysfunction: Interesting phenotypic and MRI observations
Annals of Indian Academy of Neurology
|November 7, 2009
Summary
This case study highlights a rare mitochondrial cytopathy presenting with severe neurological symptoms including seizures and epilepsia partialis continua. The findings expand the known spectrum of these complex genetic disorders.
Area of Science:
- Neurology
- Genetics
- Mitochondrial Diseases
Background:
- Mitochondrial cytopathies are a group of inherited disorders affecting cellular energy production.
- These conditions can manifest with a wide range of neurological and systemic symptoms.
Observation:
- An 11-year-old girl presented with photophobia, ophthalmoplegia, muscle weakness, and seizures, with a family history of similar symptoms and early death.
- Muscle biopsy showed ragged red and blue fibers, indicative of mitochondrial cytopathy.
- Despite negative mitochondrial genome sequencing, the patient developed refractory epilepsia partialis continua (EPC).
Findings:
- Elevated serum lactate and a lactate peak on MR spectroscopy confirmed metabolic derangement.
- EEG showed periodic lateralized epileptiform discharges (PLEDs), and MRI revealed affected motor cortex.
- The patient's EPC was refractory to standard treatments, including anti-epileptic drugs and coenzyme-Q.
Implications:
- This case expands the clinical and genetic spectrum of mitochondrial cytopathies.
- It underscores the importance of considering mitochondrial disorders in complex neurological presentations, even with negative initial genetic testing.
- The refractory nature of EPC in this patient highlights the challenges in managing severe mitochondrial diseases.
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