| CASE REPORT |
|
| Year : 2008 | Volume
: 11
| Issue : 3 | Page : 193-196 |
|
|
Epilepsia partialis continua in mitochondrial dysfunction: Interesting phenotypic and MRI observations
Kalyani Karkare1, Sanjib Sinha1, Shivashankar Ravishankar2, Narayanappa Gayathri3, T Chikkabasavaiah Yasha3, Manoj K Goyal1, Joy Vijayan1, Ayyasamy Vanniarajan4, Kumarswamy Thangaraj4, Arun B Taly1
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
DOI: 10.4103/0972-2327.42942 PMID: 19893669
|
|
|
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. |
|
|
|
| [FULL TEXT] [PDF]* |
|
 |
|
