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conferenceseries
.com
Volume 3
October 03-04, 2018 Osaka, Japan
Pediatric Neurology & Medicine
3
rd
International conference on
N
euroscience
, N
euroradiology
and
I
maging
Neuroimaging 2018
October 03-04, 2018
J Pediatr Neurol Med 2018, Volume 3
DOI: 10.4172/2472-100X-C1-003
Paroxysmal kinesigenic dyskinesia with genetic diagnosis of Wilson’s disease
Rajib Dutta
West China Hospital, China
P
aroxysmal Kinesigenic Dyskinesia (PKD), a rare paroxysmal movement disorder often misdiagnosed as epilepsy, is
characterized by recurrent, brief dyskinesia attacks from seconds to 5 minutes triggered by sudden voluntary movement
like dystonia, tremor, myoclonic jerks. Ion channelopathy has been suggested, since the disease responds well to moderate
dosage of like Carbamazepine/Oxcarbamazepine. Secondary causes of PKD which may well be associated withWilson’s disease
and other concurrent movement disorders should be sorted out if no evidence of ion channelopathy or genetic mutation is
present. A 22 year male patient presented to our OPD with voluntary movement of right hand with minimal dystonia present
in resting as well as moving state. The patient was diagnosed initially with PKD because it lasted for few seconds to 2 minutes.
Routine labs were performed including blood ceruloplasmin, urine and serum copper which was consistent with diagnosis of
Wilson Disease (WD). The ATP 7B gene mutation was positive and Wilson disease diagnosis was confirmed without any other
phenotypic feature except dyskinesia/dystonia of right hand. Patient was started on traditional dosage of D-Penicillamine and
being continued long term. In view of PKD we gave 50 mg bid dose of Carbamazepine which was later increased to 100 mg
bid with complete resolution of symptoms. PKD might be secondary to WD in our case or some unknown ion channelopathy
might be present which is not yet reported till date. Response to CMZ and Penicillamine was very obvious. Myoclonus can
be easily confused with myoclonic epilepsy and use of anti-epileptic drug may be inappropriate in this setting. So careful
monitoring of symptoms as well as associations with other diseases should be considered while evaluating this type of rare treatable
cases. Inappropriate treatment can easily exacerbate the symptoms and can degrade the quality of life and living in young patients.
rajibdutta808@gmail.com