Tüberoskleroz kompleksi tanılı hastalarda epilepsinin özellikleri ve klinik seyri

Saltık, Sema; Karatoprak, Elif Yüksel; Taşel, Bülent

doi:10.4274/tpa.116

Cited by 10 publications

(12 citation statements)

References 33 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In a study performed in our country, it was reported that the age of onset in patients with tuberous sclerosis complex ranged between 3 days and 2,5 years and 76% of the patients were aged one year or younger. In the same study, the most common seizure type was reported to be partial seizure with a rate of 95% and this was followed by infantile spasm and status epilepticus with a rate of 38% (28). Similar to the literature, seizure was observed in 85% of our patients.…”

Section: B Clinical Diagnostic Criteriasupporting

confidence: 78%

Tuberous sclerosis complex; a single center experience

Erol¹,

Savaş²,

Şekerci³

et al. 2015

Turk Arch Ped

View full text Add to dashboard Cite

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. Material and Methods: Twenty patients diagnosed with tuberous sclerosis complex in the Pediatric Neurology Clinic were examined retrospectively in terms of clinical findings and therapies. The diagnoses were compared again according to 1998 and 2012 criteria. Results: It was observed that the complaint at presentation was seizure in 17 of 20 patients and hypopigmented spots on the skin in 3 of 20 patients. On the initial physical examination, findings related with the disease were found in the skin in 17 of the patients, in the eye in 5, in the kidneys in 7 and in the brain with imaging in 17. No cardiac involvement was observed in the patients. Infantile spasm was observed in 7 of the patients who presented because of seizure (n=17), partial seizure was observed in 7 and multiple seizure types were observed in 3. It was found that sirolimus treatment was given to 9 of 20 patients because of different reasons, 7 of these 9 patients had epileptic seizures and sirolimus treatment had no effect on epileptic seizures. According to 2012 diagnostic criteria, no marked change occured in the diagnoses of our patients. Conclusions: It was observed that the signs and symptoms of our patients were compatible with the literature. Molecular genetic examination was planned for the patients who were being followed up because of probable tuberous sclerosis complex. It was observed that sirolimus treatment had no marked effect on the seizure frequency of our patients. (Türk Ped Arş 2015; 50: 51-60)

show abstract

Section: B Clinical Diagnostic Criteriasupporting

confidence: 78%

Tuberous sclerosis complex; a single center experience

Erol¹,

Savaş²,

Şekerci³

et al. 2015

Turk Arch Ped

View full text Add to dashboard Cite

show abstract

“…Intellectual development is generally affected; the frequency and time of onset of the seizures has a direct effect on intellectual development. Mental retardation is observed in 50% of patients and this renders control of seizures difficult (13). Twenty-eight (78%) of our patients had some kind of seizure.…”

Section: Discussionmentioning

confidence: 99%

“…The neurologic findings in patients with tuberous sclerosis are mostly in the form of epilepsy. One third of the clinical picture of epilepsy is in the form of infantile spasm, and 69% of this group had their first seizure before the age of one year (13). Intellectual development is generally affected; the frequency and time of onset of the seizures has a direct effect on intellectual development.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Assessment of tumors in children with tuberous sclerosis: a single centre’s experience

et al. 2017

View full text Add to dashboard Cite

Aim: As a result of mutations in TSC1 (9q34) and TSC2 (16p13.3) tumor supressor genes, the mammalian target of the rapamycin (mTor) signaling pathway is overactivated in patients with tuberous sclerosis. Abnormal cell proliferation and differentiation is responsible for the growth several different tumors. The aim of this study was to review tumors in our patients with tuberous sclerosis. Material and Methods: Thirty-six patients with tuberous sclerosis were reviewed retrospectively in terms of age, sex, family history, clinical findings, presence of tumors, and treatments. Results: Our study included 36 patients (18/18:M/F) aged between two days and 17 years with a median age of 6 years. There were hypopigmented spots in 30 patients, seizures in 28 patients, and a family history in 11 patients. Tumors related to tuberous sclerosis were renal angiomyolipomas in 21 patients, cardiac rhabdomyomas in 11, subependymal giant cell astrocytomas in seven, and non renal hamartoma in one patient. Everolimus treatment was used in only two patients because of hemodynamic instability. Conclusions: Tuberous sclerosis is a multisystemic disease characterized by the presence of various benign tumors and neurologic disorders. Renal angiomyolipomas, cardiac rhabdomyomas, and subependymal giant cell astrocytomas are commonly observed in patients with tuberous sclerosis. mTOR inhibitors such as everolimus and sirolimus have been increasingly used in the treatment of these tumors. However, the duration and optimal dose of mTOR inhibitors is still controversial and should be used in selected cases. (Turk Pediatri Ars 2017; 52: 30-4)

show abstract

“…The most common findings on MRI are shown in Table 2. [8] et al [14] et al [10] et al [11] et al [12] et al [13] Hypopigmented skin lesions (%) 100…”

Section: Resultsmentioning

confidence: 99%

Retrospective radiological and clinical of assessment 16 patients with Tuberous sclerosis

Güngör¹

2019

Haydarpasa Numune Med J

View full text Add to dashboard Cite

Introduction: Tuberous sclerosis (TSC) is a multisystem, autosomal dominant disorder with a wide clinical spectrum. The aim of the present study was to review the clinical, radiological, and laboratory findings of our TSC cases in a retrospective manner and to compare them with the current literature. Methods: The clinical and radiological features of 16 patients diagnosed with TSC at Sütçü İmam University, Faculty of Medicine, Pediatric Neurology Outpatient Clinic were retrospectively assessed. Results: A total of 16 patients with a diagnosis of TSC were included in the study. The study included 9 (56.2%) male and 7 (43.7%) female patients. Of the 16 patients, 9 (56.2%) presented with convulsions, 4 (25%) with body rash, 2 (12.5%) with cardiac rhabdomyoma diagnosed at the newborn period, and 1 (6.25%) with perinatal asphyxia. Hypopigmented skin lesions were detected in all patients (100%). The most common finding on brain magnetic resonance imaging (MRI) was periventricular subependymal nodules (SNs) (n=12, 75%). In addition to the central nervous system and skin findings, 3 (18.7%) patients had cardiac involvement, and 1 (6.2%) patient had renal involvement. Three (18.7%) patients were detected with diffuse developmental delay, and 6 (37.5%) patients were detected with mental retardation. Discussion and Conclusion: In line with the current literature, convulsions, hypopigmented skin lesions, mental retardation, and SNs on brain MRI were the most common signs.

show abstract

Tüberoskleroz kompleksi tanılı hastalarda epilepsinin özellikleri ve klinik seyri

Cited by 10 publications

References 33 publications

Tuberous sclerosis complex; a single center experience

Tuberous sclerosis complex; a single center experience

Assessment of tumors in children with tuberous sclerosis: a single centre’s experience

Retrospective radiological and clinical of assessment 16 patients with Tuberous sclerosis

Contact Info

Product

Resources

About