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

• Main Authors: Karkare Kalyani, Sinha Sanjib, Ravishankar Shivashankar, Gayathri Narayanappa, Yasha T, Goyal Manoj, Vijayan Joy, Vanniarajan Ayyasamy, Thangaraj Kumarswamy, Taly Arun
• Format: Article
• Language: English
• Published: Wolters Kluwer Medknow Publications 2008-01-01
• Series: Annals of Indian Academy of Neurology
• Subjects: Chronic progressive external ophtalmoplegia; epilepsia partialis continua; mitochondrial dysfunction; Mitochondrial Encephalopathy with Ragged Red Fiber; MRI; periodic lateralized epileptiform discharges
• Online Access: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2008;volume=11;issue=3;spage=193;epage=196;aulast=Karkare
• ISSN: 0972-2327; 1998-3549

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.