EPILEPSY AND DMD - A RARE CO-EXISTENCE
Abstract
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.
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