Patient with Tuberous Sclerosis Complex (TSC)

This is to introduce AmirHossein M. a 5 year old boy with skin lesions, recurrent partially intractable seizures. Convulsions began at the age of 2 months and from then on, he has had many attacks. Convulsions started as flexion spasms at the outset but now he has mixed type of seizures, sometimes occurring as short staring episodes and other times as myoclonic jerks occurring once or twice a day.

According to the clinical signs and symptoms as well as neuro-imaging studies (brain CT-scan and MRI), the diagnosis of tuberous sclerosis was made:

From the beginning, AmirHossein has been on several anticonvulsive drugs such as phenobarbital, phenytoin, primidone, clonazepam, sodium valproate, prednisolone, topiramate, and sabril with sufficient dosages and durations with little if any success.

His parents are not consanguine and he is the only child of the family. Parents also do not show any sign related to the tuberous sclerosis complex. AmirHossein has a psychomotor developmental delay. He walked at the age of two years and now he says only few words. On physical examination he has several ash-leaf spots over his skin. New brain MRI revealed many tubers as well as other exams:

I would be grateful to have your invaluable comments regarding this patient. You are highly welcomed to answer the following queries:

·        What other drugs do you suggest to control his seizures?

·        What other diagnostic or therapeutic modalities will benefit the patient?

Please send your comments to:

mahmoh365@yahoo.com or mohamadi@tums.ac.ir

Thanks for your attention and cooperation.

M. Mohammadi MD, Pediatric Neurologist