Purpose The present study aimed to elucidate the clinical characteristics of children with tuberous sclerosis complex (TSC) in Korea using Tuberous Sclerosis-Associated Neuropsychiatric Disorders (TAND) checklist evaluate comorbidities neurocognitive and socioemotional problems Korean setting. Methods A survey based on TAND was administered 58 TSC receiving treatment an outpatient basis. Their ...

Epilepsy affects 75% to 90% of people with tuberous sclerosis, a multisystem genetic disorder. Although seizures can occur for the first time at any age, onset in infancy or childhood is usual. Around 30% of patients present with infantile spasms that often respond well to treatment with vigabatrin. Later seizures may occur as specific patterns, such as in Lennox-Gastaut syndrome, or with combi...

As a result of extreme clinical variability in tuberous sclerosis, with one well-documented example of non-penetrance, phenotypically normal siblings or children of patients with tuberous sclerosis are thought to be at increased risk of having children with the disease. We report that the case of apparent non-penetrance that was previously described is the result of two independent tuberous-scl...

We report 6 cases of patients with tuberous sclerosis and concomitant dental pathosis. The multiple manifestations in tuberous sclerosis determine its impact on dental therapy. A lack of awareness of this condition may compound the possible side effects of dental treatment. Possible preventive measures by dentists are highlighted in this presentation. Medical evaluation and the control of risk ...

Children with tuberous sclerosis complex, Sturge-Weber syndrome, and Rasmussen encephalitis all have complex but differing needs in the process of transition/transfer to adult care. All three may be associated with long-term normal intelligence or a varying degree of intellectual disability. In tuberous sclerosis complex, the emphasis of care in adulthood shifts from seizure control and develop...

AIM This study was planned with the aim of retrospectively reviewing the clinical and laboratory findings and therapies of our patients diagnosed with tuberous sclerosis and redefining the patients according to the diagnostic criteria revised by the 2012 International Tuberous Sclerosis Complex Consensus Group and comparing them with the literature. MATERIALS AND METHOD Twenty patients diagno...

A 67 year old woman first developed left-sided sensorimotor seizures postoperatively in association with infection and mild hyponatraemia. She was found to have previously unrecognized tuberous sclerosis, with gross pathognomic features: periungual fibromata, facial angiofibromata, calcified subependymal nodules, cortical tubers and multiple renal angiomyolipomata. Her son who was epileptic was...