Wos Açık Erişimli Yayınlar

Permanent URI for this collectionhttps://hdl.handle.net/11727/10754

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2015 - 20165

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Author: search.filters.author.Erol, Ilknursearch.filters.applied.f.language: search.filters.language.tur

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    Tuberous sclerosis complex; a single center experience
    (2015) Erol, Ilknur; Savas, Tulin; Sekerci, Sevda; Yazici, Nalan; Erbay, Ayse; Demir, Senay; Saygi, Semra; Alkan, Ozlem; 26078697
    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: 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.
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    Wernicke Encephalopathy after Gastrointestinal Surgery
    (2015) Saygi, Semra; Savas, Tulin; Alkan, Ozlem; Erol, Ilknur
    We 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.
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    Chanarin Dorfman Syndrome: A Case Report
    (2015) Ozkale, Yasemin; Erol, Ilknur; Canan, Oguz; Durdu, Murat
    Chanarin Dorfman Syndrome is a multisystem inherited metabolic disorder associated with congenital ichthyosis and accumulation of lipid droplets in varios types of cells. Observation of lipid vacuoles in neutrophils (Jordan's anomaly) in peirpheral blood smears in patients with ichthyosis is diagnostic for Chanarin Dorfman Syndrome. Since the initial case was reported by Dorfman in 1974, nearly 50 cases have been reported in the literature, and the majority were from Middle East countries. In this report we presented a 5 year old patient who admitted to our hospital for creatine kinase elevation and diagnosed as Chanarin Dorfman Syndrome with clinical and laboratory findings.
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    Sadfly fever: two case reports
    (2016) Ozkale, Yasemin; Ozkale, Murat; Kiper, Pinar; Cetinkaya, Bilin; Erol, Ilknur; 0000-0002-3530-0463; 0000-0003-0866-7339; 0000-0003-3009-336X; 0000-0003-0625-1057; 27489469; AAK-4825-2021; AAF-1346-2021; AAL-6136-2021; A-7806-2016
    Sandfly fever, also known as 'three-day fever' or 'pappataci fever' or 'Phlebotomus fever' is a viral infection that causes self-limited influenza-like symptoms and characterized by a rapid onset. The disease occurs commonly in endemic areas in summer months and especially in August during which sandflies are active. In this article, two siblings who presented with high fever, redness in the eyes, headache, weakness, malaise and inability to walk, who were found to have increased liver function tests and creatine kinase levels and who were diagnosed with sadfly fever with positive sadfly IgM and IgG antibodies are reported because of the rarity of this disease.
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    Cardiac rhabdomyoma associated with tuberosclerosis complex in a newborn
    (2016) Torer, Birgin; Cetinkaya, Bilin; Arslan, Alevi; Alkan, Ozlem; Erol, Ilknur; Gulcan, Hande; 0000-0002-3530-0463; 0000-0003-0866-7339; 0000-0003-4444-0027; 0000-0001-7526-3460; AAK-4825-2021; AAF-1346-2021; V-1112-2019; AAM-4169-2021
    Cardiac rhabdomyomas are the most comman cardiac tumors in children. They are hamartomatous benign tumors composed of myocytes. They often presents as multiple lesions involving the ventricular cavities. Rhabdomyomas are usually detected in utero by fetal echocardiography. Although patients with cardiac rhabdomyomas are generally asymptomatic these tumors may cause heart failure, severe arrhyhmias and sudden death. Cardiac rhabdomyomas are often associated with tuberosclerosis and they may be the earliest manifestation of tuberosclerosis. Here, we report a newborn infant with antenatally detected cardiac rhabdomyomas associated with tuberosclerosis and we want to emphasize that other diagnostic features of tuberosclerosis should be evaluated in patients with cardiac rhabdomyomas.