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Posted On : 27 Nov 2016

8 yr female child with mild mental retardation, with a elder brother severe mentally retarded and epilepsy, is having repeated generalised tonic clonic convulsions since infancy now increased since 2 yrs to every 1 episode in 2-3 mon and since 2 mons almost daily. eeg is generalised ictal activity. currently on valproate 33mg, kg, day and Phenytoin 5 mg, kg, day still having convulsions. inter ictal child is consious, cooperative and no neurological findings. what could be the diagnosis. what do do next

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Answer 1

Since the epilepsy and mental retardation is seen in both brother and sister, a genetic disorder and metabolic disorder should be ruled out. An MRI brain and metabolic work up will be required.

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