XXXX @entity10895 in mitochondrial dysfunction: Interesting phenotypic and MRI observations.

@entity1 @entity410 @entity6211 @entity10895 @entity12295 @entity425 @entity4610 @entity2421 @entity880 @entity302 @entity1736 @entity3917 @entity427
An 11-year-old @entity1 manifested with @entity3917 , @entity1736 , external @entity4610 , @entity2421 , @entity425 , @entity427 , and generalized @entity410 (six months). Her elder sister had had uncontrolled @entity410 and @entity3917 and died at seven years of age. In the patient, serum @entity880 was high (55 mg/dl). Muscle biopsy revealed characteristic ragged red and ragged blue fibers, diagnostic of @entity12295 . Sequencing of the complete mitochondrial genome of the DNA obtained from the muscle biopsy of the @entity1 did not show any characteristic mutation. Four months later, the @entity1 was admitted with a one-week history of @entity10895 partialis @entity10895 (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- @entity302 drugs, immuno-modulators, coenzyme-Q, and @entity6211 . This thought provoking report expands the spectrum of mitochondrial cytopathies.
