TR-Dizin Açık Erişimli Yayınlar
Permanent URI for this collectionhttps://hdl.handle.net/11727/10759
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Item Tuberous sclerosis complex; a single center experience(2015) Erol, Ilknur; Savas, Tulin; Sekerci, Sevda; Yazici, Nalan; Erbay, Ayse; Demir, Senay; Saygi, Semra; Alkan, Ozlem; 26078697Aim: 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: 20 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, imaging 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 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 possible tuberous sclerosis complex. It was observed that sirolimus treatment had no marked effect on the seizure frequency of our patients.Item Wernicke Encephalopathy after Gastrointestinal Surgery(2015) Saygi, Semra; Savas, Tulin; Alkan, Ozlem; Erol, IlknurWe herein describe a child operated for acute abdomen who developed Wernicke's encephalopathy (WE) secondary to prolonged total parenteral nutrition (TPN) that lacked vitamin B1 supplementation. The author concluded that surgeons, child neurologists, pediatricians and radiologists need to be aware of the predisposing factors and symptoms of WE. Clinicians need to keep in mind that ophthalmoplegia, ataxia or altered mental status could be findings of WE.Item Narcolepsy and cataplexy: a pediatric case report(2016) Erol, Ilknur; Savas, Tulin; Saygi, Semra; Habesoglu, Mehmet Ali; 0000-0002-3530-0463; 0000-0002-8522-5078; 0000-0001-9136-355X; 28123336; AAK-4825-2021; Q-2338-2019; AAB-1203-2021Narcolepsy is characterized by excessive sleepiness, cataplexy, hypnagogic hallucinations, and sleep paralysis during the rapid eye movement period of sleep. Herein, we present a boy aged eight years who was diagnosed as having narcolepsy and cataplexy about thirteen months after his first presentation. He was admitted with symptoms of daytime sleepiness. In the follow-up, cataplexy in the form of head dropping attacks developed seven months after the first admission. The patient was investigated for different prediagnoses and was eventually diagnosed as having narcolepsy and cataplexy through polysomnography and multiple sleep latency tests thirteen months after the first presentation. He is being followed up and is under drug therapy; his symptoms have improved substantially.