A 6 month old with epilepsia partialis continua

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A 6 month old with epilepsia partialis continua

Author: Pediatric Oncall

Question
A 6 month old boy born of non-consanguineous marriage presented with multiple episodes of generalized tonic clonic convulsions since 1 month lasting for 2-3 minutes with normal consciousness in between. Since past 1 week, he had continuous left-sided focal convulsions without loss of consciousness. His milestones till present illness were normal and immunization was upto date. On examination, he was normotensive, conscious with continuous clonic convulsions of left upper limb. He was treated with phenobarbitone, Phenytoin, Valproate, Clobazam and Carbamazepine but his convulsions did not resolve. He was then put on Midazolam drip following which convulsion resolved. However after discontinuation of Midazolam, he continued to have intermittent focal convulsions. His investigations in form of CBC, MRI brain, CSF analysis, serum electrolytes, CSF lactate and pyruvate, serum calcium, liver function tests and renal function tests, serum ammonia and blood sugar were normal. EEG showed right temporoparietal activity with secondary generalization. He was treated with Pyridoxine but had no improvement and subsequently started on high dose multivitamins of Thiamine and Riboflavin as a part of underlying metabolic disorder.

What is the probable diagnosis?

Answer Discussion :

A

Ayman Abdalla

0

vit B12 deffeciency

16 years ago

L

lijycash ad

0

partial complex epilepsy

16 years ago

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Answer 1

Thanks for all the replies. Since the child is only 6 months old, we did not consider diagnosis of Rasmussens encephalitis. We did do the urine organic acids which is normal. Where is the SCN1 gene test done_? That is one possibility that we have not ruled out.

A 6 month old with epilepsia partialis continua

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