tuberous sclerosis complex ( tsc ) is a multisystem , autosomal dominant disorder with an incidence of approximately 1 in 6000 live births . tuberous sclerosis complex usually manifests itself in early life with severe intractable epilepsy and mental retardation ; however , diagnosis can be delayed in milder cases . a recent study demonstrated the importance of early diagnosis and commencement of preventative antiepileptic treatment of infants with tsc to improve neurodevelopmental and seizure outcomes . here , we present a patient with tsc with subtle cardinal manifestations . part of this manuscript was presented at the 10th asian & oceanian epilepsy congress , singapore 2014 and appeared in an abstract form . a 26-year - old right - handed woman presented for a thorough evaluation of seizures that were not controlled by medical therapy . she started having convulsions at age 7  days and had several focal seizures per year that were intractable to treatment with carbamazepine or phenytoin . her younger sister developed generalized convulsions when she was in high school , was treated with antiepileptic medication , and , after finishing therapy , has been seizure - free for more than 2  years . both were examined in other hospitals , and no symptom related to tsc was reported . seizure semiology of the patient comprised of visual hallucination , loss of consciousness , and convulsive movements predominantly on the right side . therefore we categorized her seizures as focal without initial impairment of consciousness evolving to impaired consciousness and then to bilateral convulsive seizures . neurological examination showed mental retardation ( mmse : 23/30 , wais - iii : viq 63 , piq 59 , fiq 58 ) and decreased vibration sensation in both legs . interictal eeg showed slow waves and epileptiform discharges broadly over the anterior quadrants bilaterally ( fig . 3 ) . brain imaging showed multiple cortical tubers and malformation of cortical development in the left cerebral hemisphere but no subependymal nodules or other calcified lesions ( fig . 4 ) . interictal imp - spect showed hypoperfusion in the left frontal lobe ( fig . there was no abnormality of the lung , major arteries , liver , or kidneys . this patient fulfilled two major diagnostic criteria for tsc , i.e. , facial angiofibromas and cortical tubers , and was diagnosed as having definite tsc . this patient s epilepsy was categorized into epilepsies attributed to and organized by structural - metabolic causes , neurocutaneous syndromes , and tsc . she was devoid of calcified subependymal nodules which are known to be one of the most common features of tsc . approximately 90% of patients have subependymal nodules in epidemiological studies among patient populations with tsc , and mainly in children ( mean age of 1011  years ) , compared with 77% among those in adults ( mean age of 27  years ) . early recognition of tsc is important to understand the course of the disease and possible strategies to prevent progression . patients with mental retardation and epilepsy should be carefully evaluated for the possible diagnosis of tsc , even if they lack subependymal nodules or show mild skin symptoms .
tuberous sclerosis complex ( tsc ) is known to cause severe intractable epilepsy and mental retardation ; however , diagnosis can be delayed in milder cases . 
 we report a 26-year - old right - handed female patient who started having convulsions at age 7  days . 
 she had several focal seizures per year that were intractable to treatment with carbamazepine or phenytoin . 
 her two sisters had several episodes of suspected epileptic seizures but had no symptoms related to tsc . 
 seizure semiology of the patient comprised of visual hallucination , loss of consciousness , and convulsive movements predominantly on the right 
 . physical examination revealed several small scattered angiofibromas over the nose that were histologically determined by skin biopsy . 
 hypomelanotic macules , shagreen patches , or periungual fibromas were not seen . 
 neurological examination showed mental retardation ( mmse : 23/30 , wais - iii : viq63 , piq59 , fiq58 ) and decreased vibration sensation in both legs . 
 interictal eeg showed slow waves and epileptiform discharges broadly over the anterior quadrants bilaterally . 
 brain imaging showed multiple cortical tubers and malformation of cortical development but no subependymal nodules . 
 interictal imp - spect showed hypoperfusion in the left frontal lobe . 
 cardiac rhabdomyoma was not noticed by cardiac echography . 
 truncal ct showed sclerosis of the bilateral lumbosacral joints . 
 there was no abnormality in the lung , major arteries , liver , or kidneys . 
 no hamartomas or retinal achromic patches were noticed by ophthalmologic evaluation . 
 administration of lamotrigine was effective for her seizures . 
 this patient fulfilled two major features of diagnostic criteria for tsc and was diagnosed as definite tsc . 
 patients with mental retardation and epilepsy should be carefully evaluated for the possible diagnosis of tsc .