EPILEPSY AND DMD - A RARE CO-EXISTENCE

Duchenne muscular dystrophy is an X - linked recessive disease due to mutation in dystrophin gene. A significant proportion of children with DMD suffer from mental retardation, cognitive impairment and psychiatric symptoms. Although there are many researches about mental retardation as one of the CNS complications in DMD, there are few reports on epilepsy in this disease. A 14 years old boy who had genetically proven Duchenne muscular dystrophy presented with intractable complex partial seizures. He had normal psychomotor development. He developed progressive weakness of limbs since 5 years of age and became wheelchair bound since 10 years of age. He had recurrent episodes of sudden vacant stare with forced deviation of head and eyes to right side followed by facial twitching on the right side and involuntary micturition. Each episode lasted for about 10 to 15 minutes occurring atleast once or twice a month for past 6 years. He is on carbamazepine at 20mgkg and levetiracetam at 37mgkg with good compliance. Molecular analysis revealed exon 17 deletion of dystrophin gene. He had elevated serum CPK and RBBB in ECG. Echo revealed dilated cardiomyopathy. MRI brain was normal. EEG revealed bursts of bilateral spike and wave discharges. Thus, epilepsy may be a rare associated feature of DMD. Absence of dystrophin in the central nervous system causing suppression of inhibitory synapses in cortex and hippocampus may be the pathogenesis of epilepsy in this disease.