Annals of Indian Academy of Neurology
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CASE REPORT
Year : 2008  |  Volume : 11  |  Issue : 3  |  Page : 193-196

Epilepsia partialis continua in mitochondrial dysfunction: Interesting phenotypic and MRI observations


1 Department of Neurology, NIMHANS, Bangalore, India
2 Department of Neuroimaging and Interventional Radiology, NIMHANS, Bangalore, India
3 Department of Neuropathology, NIMHANS, Bangalore, India
4 Centre for cellular and molecular Biology, Hyderabad, India

Correspondence Address:
Sanjib Sinha
National Institute of Mental Health and Neurosciences (NIMHANS), Hosur Road, Bangalore-560 029
India
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DOI: 10.4103/0972-2327.42942

PMID: 19893669

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An 11-year-old girl manifested with photophobia, ptosis, external ophthalmoplegia, hypotonia, weakness of proximal limb muscles, hyporeflexia, and generalized seizures (six months). Her elder sister had had uncontrolled seizures and photophobia and died at seven years of age. In the patient, serum lactate was high (55 mg/dl). Muscle biopsy revealed characteristic ragged red and ragged blue fibers, diagnostic of mitochondrial cytopathy. Sequencing of the complete mitochondrial genome of the DNA obtained from the muscle biopsy of the patient did not show any characteristic mutation. Four months later, the girl was admitted with a one-week history of epilepsia partialis continua (EPC). EEG revealed Periodic Lateralized Epileptiform Discharges (PLEDs), once in 2-4 seconds, over the right temporo-occipital leads. MRI revealed signal change of right motor cortex, which had restricted diffusion. MR spectroscopy (MRS) from this region revealed lactate peak. EPC remained refractory to multiple anti-epileptic drugs, immuno-modulators, coenzyme-Q, and carnitine. This thought provoking report expands the spectrum of mitochondrial cytopathies.


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