Browsing by Author "Aktar, Fesih"

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Acute Cyanide Intoxication Due To Apricot Seed Ingestion
(Elsevier Science inc, 2013) Akil, Muhammed; Kaya, Avni; Ustyol, Lokman; Aktar, Fesih; Akbayram, Sinan
Acute Hepatotoxicity Due To Clonazepam in a Girl Using Oxcarbazepine
(Elsevier Science Bv, 2013) Akbayram, Sinan; Aktar, Fesih; Akgun, Cihangir; Caksen, Huseyin
Albuterol Intoxication in a Child
(Elsevier Science inc, 2013) Aktar, Fesih; Kostu, Murat; Unal, Muazzez; Caksen, Huseyin
Amniyotik Band Sendromu Olgusu
(2011) Taşkın, Gökmen A.; Çaksen, Hüseyın; Aktar, Fesih; Temel, Hayrettin; Peker, Erdal; Doğan, Murat; Üstyol, Lokman
Amniotik band sendromu (ABS), amniyondan yoksun plasenta, amniotik zar kalıntılarının fetusa yapışması ya da dolanması ile oluşan fetal deformasyon, malformas-yon veya amputasyon üçlüsü ile karakterize bir tablodur. Prevelansı 1.200 ile 15.000 canlı doğumda bir arasında değişmektedir. Altı yaşında erkek hasta doğuştan el ve ayaklarının olmaması şikayetleriyle getirildi. Fizik mua-yenede sağ diz 5 cm altı ve sol ayak bileğinin hemen altından itibaren, ayrıca sağ ve sol el ikinci, üçüncü ve dördüncü parmak metakarpofalangial eklem, sol el birinci ve beşinci parmak proksimal interfalangial eklem hizasında boğumlanma tarzında anomalileri vardı. Beyin manyetik rezonans incelemesi ve batın ultrasonografisi normal idi. Bu vaka dolayısıyla ekstremite anomalileriyle getirilen vakalarda ayırıcı tanıda ABS’nin de düşünülmesi gerektiğini vurgulamak isteriz.
Association of Pulmonary Hemosiderosis and Celiac Disease
(Nobel Ilac, 2011) Dogan, Murat; Bektas, Mehmet Selcuk; Dogan, Sekibe Zehra; Aktar, Fesih; Cesur, Yasar
Idiopathic pulmonary hemosiderosis (IPH) is a rare disease of unknown autoimmune etiology mainly affecting children and adolescents. We report the case of an 6-years-old boy with cough and tiredness. There were no gastrointestinal symptoms were not determined. Body weight and height were in normal percentiles. Physical examination revealed cutaneous and mucosal pallor, due to severe anemia (hemoglobin 3 g/dL). Infiltrations were seen at the chest X-rays at both lungs, but markedly at left lung. In sputum examinations, hemosiderin-laden macrophages were seen. The diagnosis of IPH was made. The association of IPH and Celiac disease (CD) is well known. Searching associated CD was performed and then confirmed by biological and histological examinations. A gluten-free diet was initiated. Evolution was favorable. Searching for CD in IPH should be done, even in the absence of gastrointestinal symptoms.
Atypical Presentation of Herpes Zoster in a Case With Acute Myeloblastic Leukemia
(Elsevier Science Bv, 2013) Aktar, Fesih; Akbayram, Sinan; Akdeniz, Necmettin; Aktar, Sirac; Akgun, Cihangir; Dogan, Murat; Oner, Ahmet Faik
Herpes zoster (HZ) is often associated with painful erythematous vesicular eruptions of the skin or mucous membranes. Approximately 10% to 30% of the population will suffer from HZ during their lifetime. HZ is infrequent in healthy children. However, diminished cellular immunity seems to increase risk of reactivation because incidence increases with age and in immunocompromised states. We report a 7 year old girl with acute myeloblastic leukemia HZ infection on the right palmar, elbow and forearm region (C7, C8 and T1 dermatomes). We want to indicate unusual localization of HZ on the acute myeloblastic leukemia child patient.
Brain Malformations Associated With Knobloch Syndrome-Review of Literature, Expanding Clinical Spectrum, and Identification of Novel Mutations
(Elsevier Science inc, 2014) Caglayan, Ahmet Okay; Baranoski, Jacob E.; Aktar, Fesih; Han, Wengi; Tuysuz, Beyhan; Guzel, Asian; Gunel, Murat
Background: Knobloch syndrome is a rare, autosomal recessive, developmental disorder characterized by stereotyped ocular abnormalities with or without occipital skull deformities (encephalocele, bone defects, and cutis aplasia). Although there is clear heterogeneity in clinical presentation, central nervous system malformations, aside from the characteristic encephalocele, have not typically been considered a component of the disease phenotype. METHODS: Four patients originally presented for genetic evaluation of symptomatic structural brain malformations. Whole-genome genotyping, whole-exome sequencing, and confirmatory Sanger sequencing were performed. Using immunohistochemical analysis, we investigated the protein expression pattern of COL18A1 in the mid-fetal and adult human cerebral cortex and then analyzed the spatial and temporal changes in the expression pattern of COL18A1 during human cortical development using the Human Brain Transcriptome database. RESULTS: We identified two novel homozygous deleterious frame-shift mutations in the COL18A1 gene. On further investigation of these patients and their families, we found that many exhibited certain characteristics of Knobloch syndrome, including pronounced ocular defects. Our data strongly support an important role for COL18A1 in brain development, and this report contributes to an enhanced characterization of the brain malformations that can result from deficiencies of collagen XVIII. CONCLUSIONS: This case series highlights the diagnostic power and clinical utility of whole-exome sequencing technology allowing clinicians and physician scientists to better understand the pathophysiology and presentations of rare diseases. We suggest that patients who are clinically diagnosed with Knobloch syndrome and/or found to have COL18A1. mutations via genetic screening should be investigated for potential structural brain abnormalities even in the absence of an encephalocele.
Burkitt's Lymphoma Causing Acute Pancreatitis in a Child
(Elsevier Science Bv, 2013) Akil, Muhammed; Kaya, Avni; Bektas, M. Selcuk; Aktar, Fesih; Akbayram, Sinan; Bilici, Salim; Beyazal, Mehmet
A 8-year-old boy admitted with abdominal pain, fever and vomiting for the previous 10 days. Sensitivity was detected in the epigastric area. There was not defense and rebond. Aspartate aminotransferase was 106 U/L, alanine aminotransferase 25 U/L, alkaline phosphatase 311 U/L, blood amylase level 748 U/L, blood lipase level 391 U/L. In thoracic CT, soft tissue with smooth contours measuring 32 mmx28 mm was identified in the posterior mediastinum. Bone marrow aspiration biopsy was normal. A mass specimen obtained from the duodenum endoscopic biopsy. This specimen was diffuse staining by leukocyte common antigen, CD10 and CD20. The patient was diagnosed with acute pancreatitis associated with stage 3 duodenal Burkitt's lymphoma. Modified LMB-98 was initiated. Burkitt's lymphoma may rarely cause acute pancreatitis.
A Case of Immune Thrombocytopenic Purpura Presenting With Intracranial Hemorrhage
(Elsevier Science Bv, 2013) Akbayrami, Sinan; Aktar, Fesih; Akgun, Cihangir; Bektas, Mehmet Selcuk; Caksen, Huseyin; Onert, Ahmet Faik
Immune thrombocytopenic purpura is an acute, generally considered a self-limiting benign disorder with a 60%-80% change of spontaneous recovery occurring usually within a few months after onset. Intracranial hemorrhage is a rare but life-threatening complication of childhood immune thrombocytopenic purpura. We report a 4-year-old girl who admitted with headache, vomiting, bleeding from noise and bruises on the extremities. Her neurological examination was normal. Based on laboratory finding she was diagnosed immune thrombocytopenic purpura and intracranial hemorrhage. We suggest that cranial imaging should be perform in patients with immune thrombocytopenic purpura admitted with bleeding symptoms, vomiting and headache even if they had no abnormal neurological signs.
The Clinical Analysis of Childhood Henoch-Schonlein Purpura Patients
(deri Zuhrevi Hastaliklar dernegi, 2012) Akgun, Cihangir; Akbayram, Sinan; Kaya, Avni; Temel, Hayrettin; Bilici, Salim; Aktar, Fesih; Arslan, Sukru
Background and Design: Henoch-Schonlein purpura is affected often the skin, joints, gastrointestinal tract and kidneys and common systemic vasculitis of childhood. Henoch-Schonlein purpura are many and varied symptoms, also it was followed in children policlinics and hospitalized diseases for an important role. We aimed to determination of the patients with Henoch-Schonlein purpura by examination of their clinical analyses. Material and Method: The medical records of 212 patients with Henoch-Schonlein purpura in our polyclinics have been retrospectively studied. These patients were analyzed age groups, diagnosed seasons, held systems, laboratory findings, the treatments, complications and prognosis. SPSS 13 statistical software package was used for data analysis. Results: The mean age of the patients was 9.33 +/- 3.20 years. The disease was more frequently demonstrated in fall and winter seasons. There was no statistically assosiation between age groups with season, joint involvement, central neryeous system involvement, gastrointestinal system involvement and scrotal involvement but there was a positive correlation between age groups and renal involvement Conclusion: The treatment duration increases with the age of the patient and the necessity to use a combined treatment (antihistaminic, non-steroid anti-inflammatory treatment and steroids) increases. (Turkderm 2012; 46: 73-7)
Clinical Features and Prognosis With Guillain-Barre Syndrome
(Wolters Kluwer Medknow Publications, 2011) Akbayram, Sinan; Dogan, Murat; Akgun, Cihangir; Peker, Erdal; Sayin, Refah; Aktar, Fesih; Caksen, Huseyin
Background: Guillain-Barre syndrome (GBS) is an acute inflammatory polyneuropathy commonly characterized by rapidly progressive, symmetric weakness and areflexia. Materials and Methods: We retrospectively assessed the clinical manifestations, results of electrodiagnostic tests, functional status and prognosis of 36 children diagnosed with GBS. Results: Based on clinical and electrophysiological findings, the patients were classified as having acute inflammatory demyelinating polyradiculoneuropathy (AIDP) (n = 25), acute motor axonal neuropathy (AMAN) (n = 10) and acute motor-sensory axonal neuropathy (AMSAN) (n = 1). Twenty (55.5%) patients were males and 16 (44.5%) patients were females. The mean age of the 36 patients was 68.1 +/- 45.01 months (range, 6-180 months). Five (13.8%) patients were younger than 2 years. The most common initial symptoms were limb weakness, which was documented in 34 (94.4%) patients. In our study, 18 patients (51.4%) showed albuminocytological dissociation (raised protein concentration without pleocytosis) on cerebrospinal fluid (CSF) examination. Three patients (8.3%) required mechanical ventilation therapy during hospitalization. Unfortunately, three (8.3%) patients died; one patient had AIDP and two patients had axonal involvement (one case was AMAN and another case was AMSAN). When we compared the cases of residual sequel/dead and cases of complete recovery for neural involvement type including AIDP, AMAN and AMSAN, we did not find a statistically significant difference between the groups (P > 0.05). Conclusion: Our findings showed that cases of GBS was not uncommon in children younger than 2 years of age, and CSF protein level might be found high in the first week of the disease in about one half of the patients, with a higher rate of morbidity and mortality in patients with axonal involvement than in those with AIDP.
Diagnostic Role of Inflammatory Markers in Pediatric Brucella Arthritis
(Bmc, 2016) Aktar, Fesih; Tekin, Recep; Bektas, Mehmet Selcuk; Gunes, Ali; Kosker, Muhammet; Ertugrul, Sabahattin; Yolbas, Ilyas
Background: As a multisystem infectious disease, there is an inflammation, which causes increase in acute phase reactants in brucellosis. The mean platelet volume (MPV), platelet distribution width (PDW), red cell distribution width (RDW), neutrophil to lymphocyte ratio (NLR) and platelet to lymphocyte ratio (PLR) have been identified as markers of inflammation. The present study aimed to evaluate diagnostic values of these biomarkers in brucella arthritis (BA). Methods: The study included 64 children with BA and 66 healthy control subjects. Demographic features, joint involvement, erythrocyte sedimentation rate (ESR), C-reactive protein (CRP) and hematological variables were retrospectively recorded. In addition, results of synovial fluid and serum tube agglutination test for brucella together with treatment regimens were recorded. Results: The mean age of the patients (53.1 % male) was 92.3 +/- 41.2 months. The most commonly affected joint was ankle (53.1 %). Synovial fluid puncture-brucella agglutination test was positive in 22 (34.3 %) patients. Puncture culture was positive in 9 patients. Most of the patients (57.8 %) were treated with a combination of rifampicin plus sulfamethoxazole/trimethoprim and gentamicin. Significantly higher mean PDW, RDW, MPV, NLR and PLR values were found in children with BA compared to control subjects (p < 0.05). A positive correlation was found between MPV and NLR values (R-2 = 0.192, p < 0.001). Conclusion: Our findings indicated that NLR and PLR are indirect markers of inflammation that may be observed abnormally increased in children with brucella arthritis. Further longitudinal studies are needed to investigate this topic to establish the more clear associations.
Dyspnea Associated With Vocal Cord Paralysis and Type-2 Chiari Malformation
(Modestum Ltd, 2013) Ceylan, Abdullah; Aktar, Fesih; Karaman, Kamuran; Bektas, M. Selcuk; Kaya, Avni; Caken, Hueyin
The etiology of vocal cord paralysis is highly variable. Neurological, birth trauma, surgical procedure and idiopathic are notable causes. Clinical findings are different according to type of paralysis. Vocal cord paralysis can be seen unilateral or bilateral. Bilateral vocal cord paralysis are more severe clinical findings than according to unilateral paralysis. We report a 9-month child. He was admitted to hospital with stridor and cyanosis He was diagnosed Chiari malformation type 2 and bilateral vocal cord paralysis. Chiari malformation type 2 related vocal cord paralysis can severely respiratory failure.
Examinations of Clinical, Laboratory and Pedigrees in Children With Familial Epilepsy and or Mental Motor Retardation
(2011) Aktar, Fesih; Çaksen, Hüseyin
Bu çalışmada ailesel epilepsi ve/veya mental motor retardasyon (MMR) tanısı alan ve üç kuşak soyunun en az birinde epilepsi ve/veya MMR saptanan 35 hasta prospektif olarak değerlendirildi. Amacımız akraba evliliğinin sık olduğu bölgemizde ailesel epilepsi ve/veya MMR'si olan hastaların pedigri, klinik ve laboratuvar bulgularını inceleyerek etyolojide rol oynayan faktörleri ve pedigrilerin olası kalıtım paternlerini belirlemektir.Bu çalışma Yüzüncü Yıl Üniversitesi Tıp Fakültesi Çocuk Nörolojisi Bilim Dalında Haziran 2009 - Temmuz 2011 tarihleri arasında yapıldı. Haziran 2009 - Temmuz 2011 tarihleri arasında çocuk nöroloji polikliniğine başvuran ve ailesel epilepsi ve/veya MMR tanısı alan 14 hasta prospektif olarak çalışmaya alındı. Ayrıca, Ocak 2005 - Mayıs 2009 tarihleri arasında Çocuk Nöroloji polikliniğimize getirilmiş hastaların dosya kayıtları retrospektif olarak incelenerek çalışma kriterlerimize uygun 21 hasta prospektif olarak çalışmaya dahil edildi.Vakalar demografik veriler, başvuru yakınması, perinatal öykü, anne-baba akrabalığı, ailede benzer hastalık öyküsü, konvülsiyon varlığı, mental motor gelişim gibi parametreler açısından incelendi. Tüm hastaların ayrıntılı nörolojik muayeneleri yapıldı.Hastaların tümünde soy ağacı (pedigri) çıkarıldı. Etyolojik veya eşlik edebilecek diğer anomalilerin saptanması amacıyla tüm hastalardan rutin hematolojik ve biyokimyasal laboratuvar tetkiklerine ilaveten tiroid hormonları, vitamin B12 ve folat düzeyleri, Tandem MASS spektrometri metabolik hastalık taraması, beyin manyetik rezonans görüntüleme, elektroensefalografi, görsel uyarılmış potansiyel, işitsel beyin sapı cevabı ve zeka testi incelemeleri yapıldı. Gerekli görülen vakalarda TORCH grubu enfeksiyonlar için serum markırları, idrarda organik asit profili, serotonin düzeyi, bilgisayarlı beyin tomografi, batın ultrasonografi ve kemik survey gibi görüntüleme yöntemleri gibi ileri tetkikler yapıldı.Vakaların 22'si (%62.8) erkek ve 13'ü (%37.1) kızdı (E/K: 1.69). Vakaların yaş ortalamaları 7.25 ± 3.87 yıl (11 ay-14 yıl) idi. Çalışmaya alınan olgular üç gruba ayrıldı. Grup 1'de sadece epilepsisi olan vakalar; grup 2'de sadece MMR tanısı alan vakalar; grup 3'de epilepsi ve mental ve/veya motor retardasyon birlikteliği olan vakalar bulunmaktaydı. Grup 3'deki vakaların 17'sinde epilepsi ve MMR birlikteliği varken, ikisinde epilepsi ile birlikte sadece mental retardasyon vardı. Grup 1'de dokuz (%25.7), grup 2'de yedi (%20) ve grup 3'de 19 (%54.2) vaka olmak üzere toplam 35 indeks vaka vardı.Grup 1'de dokuz hasta vardı. Başvuru yaşları ortalama 7.94 ± 3.59 yıl (2 6/12 -12 yıl) idi. İkisi (%22.2) kız ve yedisi (%77.7) erkekti. Erkek/kız oranı 3.5 idi. Vakaların birinde (%11.1) anne-baba arasında 1. derece, üçünde (%33.3) 2. derece ve ikisinde (%22.2) 3. derece veya uzak derecede akraba evliliği öyküsü mevcuttu. Üç (%33.3) vakada anne-baba arasında akraba evliliği öyküsü yoktu. Vakaların üçünde (%33.3) ailede eksitus ve/veya abortus öyküsü mevcuttu. Grup 1'deki vakaların soyağaçları incelendiğinde, üç (%33.3) vakada otozomal resesif (OR) kalıtım, bir (%11.1) vakada otozomal dominant (OD) kalıtım, bir (%11.1) vakada eksik penetranslı OD kalıtım, bir (%11.1) vakada kromozomal bozukluk, bir (%11.1) vakada X'e bağlı resesif (XR) kalıtım, bir (%11.1) vakada mitokondriyal kalıtım ve bir (%11.1) vakada da eksik penetranslı OD kalıtım veya kromozomal bozukluk olabileceği düşünüldü. Vakaların dördünde (%44.4) jeneralize nöbet, dördünde (%44.4) parsiyel nöbet ve birinde (%11.1) de parsiyel başlayıp sekonder jeneralizasyon gösteren nöbet vardı.Grup 2'de yedi hasta vardı. Başvuru yaşları ortalama 7.14 ± 4.59 yıl (1-13 yıl) idi. Üçü (%42.8) kız ve dördü (%57.1) erkekti. Erkek/kız oranı 1.33 idi. Vakaların beşinde (%71.4) anne-baba arasında 1. derece ve birinde (%14.2) 3. derece veya uzak derecede akraba evliliği öyküsü mevcuttu. Bir (%14.2) vakada anne-baba arasında akraba evliliği öyküsü yoktu. Vakaların altısında (%85.7) ailede eksitus ve/veya abortus öyküsü mevcuttu. Grup 2'deki vakaların soyağaçları incelendiğinde, beş (%71.4) vakada OR kalıtım ve iki (%28.5) vakada mitokondriyal kalıtım olabileceği düşünüldü.Grup 3'de 19 hasta vardı. Başvuru yaşları ortalama 6.97 ± 3.91 yıl (11 ay-14 yıl) idi. Sekizi (%42.1) kız ve 11'i (%57.8) erkekti. Erkek/kız oranı 1.37 idi. Vakaların dokuzunda (%47.3) anne-baba arasında 1. derece ve birinde (%5.2) 2. derecede akraba evliliği öyküsü mevcuttu. Dokuz (%47.3) vakada anne-baba arasında akraba evliliği öyküsü yoktu. Vakaların 11'inde (%57.8) ailede eksitus ve/veya abortus öyküsü mevcuttu. Grup 3'deki vakaların soyağaçları incelendiğinde, dokuz (%47.3) vakada OR kalıtım, iki (%10.5) vakada eksik penetranslı OD kalıtım, iki (%10.5) vakada mitokondriyal kalıtım, iki (%10.5) vakada OR kalıtım veya mitokondriyal kalıtım, iki (%10.5) vakada mitokondriyal kalıtım veya kromozomal bozukluk, bir (%5.2) vakada XR kalıtım ve bir (%5.2) vakada da eksik penetranslı OD kalıtım veya multifaktöriyel kalıtım olabileceği düşünüldü. Vakaların 16'sında (%84.2) jeneralize nöbet ve üçünde (%15.7) ise parsiyel nöbet vardı.Sonuç olarak; epilepsi ve/veya MMR tanısı konan hastalarda aile öyküsünün ayrıntılı bir şekilde sorgulanması, ailesel epilepsi ve MMR tanısı alan hastalarda en az üç kuşak pedigrilerinin çıkartılması ve olası kalıtım paternlerinin belirlenmesi, gerekli görülen vakalarda spesifik laboratuvar, kraniyal görüntüleme incelemelerinin ve ileri genetik analizlerin yapılması ve ailelere genetik danışma açısından bilgi verilmesi gerektiğini düşünüyoruz.
Methemoglobinemia Due To Local Anesthesia With Prilocaine for Circumcision
(Wiley-blackwell, 2010) Peker, Erdal; Cagan, Eren; Dogan, Murat; Aktar, Fesih; Bektas, Selcuk; Kirimi, Ercan; Ceylan, Abdullah
Mirtazapine Intoxication in a Child
(Elsevier Science inc, 2012) Akbayram, Sinan; Dogan, Murat; Basaranoglu, Murat; Cagan, Eren; Aktar, Fesih; Kaya, Avni; Peker, Erdal
Mycoplasma Pneumoniae Meningoencephalitis: a Case Report
(Wolters Kluwer Medknow Publications, 2013) Bektas, Mehmet Selcuk; Aktar, Fesih; Acikgoz, Mehmet; Sal, Ertan; Caksen, Huseyin
Nervous system is the most affected area in mycoplasma pneumoniae infections with exception of respiratory system. It is an important agent of childhood acute encephalitis and respiratory system infections in school-age children and young adults. Routine clinical and laboratory findings to identify spesific diagnosis is limited. Twelve-year-old female patient was admitted with fever, fatigue, sore throat, slipping the right eye, withdrawal of the mouth from the right and right hemiclonic seizures. Test of anti-Mycoplasma pneumoniae (M. pneumoniae) IgM was positive and IgG antibodies were found to be 4-fold increase in the sera of follow-up. This article was presented with the aim of remembering M. pneumoniae to be an differential diagnosis in children with acute encephalitis.
Pulmonary Tuberculosis With Nonspecific Psoas Abscess
(Nobel Ilac, 2009) Kaya, Avni; Kizilyildiz, Baran Serdar; Karaman, Kamuran; Bektas, Selcuk; Aktar, Fesih; Caksen, Hueseyin
Psoas abscess is a rare disease in childhood. Usually its diagnosis is diffucult and so delayed. A five-year-old girl was admitted with high fever, sweating, swelling and pain on tight thigh and abdominal pain for one week. On family history there was no contact with any known tuberculosis case. She had two siblings who had died clue to diarrhea and pneumonia. At physical examination, the right leg was tender with movements and in flexion posture. There was also defence and rebaund on abdomen. Ultrasonography revealed a mass lesion at 39x17 mm diameters with heterogenous echo next to the psoas muscle. In laparotomy, the abcess has been drained and Staphylococcus aureus isolated in routine culture. Acid-fast staining and culture for mycobacterium was negative. Despite of appropriate antibiotic treatment, she had fever on the tenth hospital day so we presumed a tuberculosis infection. Serum adenozine deaminase level was high (45 IU/L) and thorax high resolution computed tomography demonstrated multiple changes consisted with pulmonary tuberculosis. Antituberculosis treatment was started. We conclude that psoas abcess was secondary to pulmonary tuberculosis. The patient has been well on follow-up after four months of treatment.
Salmonella Typhi’ye Bağlı Gelişen Ensefalit Olgusu
(2010) Acikgoz, Mehmet; Akgün, Cihangir; Sal, Ertan; Peker, Erdal; Çaksen, Hüseyın; Aktar, Fesih; Akıl, Muhammed
Salmonella enfeksiyonları çocuklarda kendini sınırlayan gastroenterit enfeksiyonları şeklinde ortaya çıkar. Salmonella enfeksiyonları nadiren merkezi sinir sistemi enfeksiyonu şeklinde karşımıza çıkar. Salmonellalara bağlı merkezi sinir sistemi enfeksiyonlarının yaklaşık %83’ü 2 yaşın altında görülür. Bu makalede, konvülziyon şikayetiyle getirilen, beyin omirilik sıvısı incelemesinde protein artışı olup mikroskopla direk bakıda hücre görülmeyen elektroensefalogram ve beyin magnetik rezonans incelemesi ensefalitle uyumlu olan takiplerde ensefalit etkeni olarak Salmonella Typi tespit edilen oniki yaşında erkek sunulmuştur. Vaka ensefalit etkenleri arasında nadirde olsa Salmonella Typi görülebileceğini hatırlatmak vurgulamak amacıyla sunuldu.
Sjögren-larsson Sendromunda Manyetik Rezonans Spektroskopi
(2016) Karaman, Kamuran; Çaksen, Hüseyın; Özmen, Berfin Ö.; Akıl, Muhammed; Taşkın, Gökmen; Aktar, Fesih
Sjögren-Larsson sendromu (SLS), yağ asidi aldehid dehidrogenaz enzim eksikliği sonucu gelişen, otozomal resesif geçiş gösteren nadir bir nörokutanöz hastalıktır. Spastik dipleji veya tetrapleji, mental retardasyon ve konjenital lameller ihtiyozis hastalığın major bulgularıdır. Sendroma çeşitli göz ve diş bulguları, iskelet sistemi anomalileri, konuşma defektleri, hipertelorizm ve epilepsi de eşlik edebilmektedir. Dokuz aylık erkek hasta havale geçirme ve vücudunda pullanma şikâyetleri ile getirildi. Özgeçmişinde, ciltteki pullanmalarının doğumundan itibaren olduğu ve zamanla deride kalınlaşma ve soyulmaların başladığı, ilk kez üç aylıkken sağ tarafa lokalize havale geçirdiği ve epilepsi tanısı ile fenobarbital ve karbamazepin kullandığı öğrenildi. Fizik muayenesinde ciltte yaygın ihtiyozis, hipertelorizm ve bilateral simian çizgisi vardı. Göz muayenesinde korneada bilateral punktat lezyonlar, sağ gözde pigment epitel atrofisi ve sol gözde ezotropia tespit edildi. Elektroensefalografide sol hemisferde epileptiform anomali izlendi. Beyin Manyetik Rezonans (MR) incelemesinde serebral-serebellar beyin parankiminde ve T1-T2 relaksasyon süresinde artış ve korpus kallozumda sinyal artışı (gecikmiş miyelinizasyon) saptandı. Beyin MR spektroskopide sentrum semiovaledeki beyaz cevhere yönelik yapılan incelemede 1,3 ppm'de sfingolipid pikini içeren bulgular izlendi. Klinik ve laboratuar bulgularıyla SLS tanısı kondu. Bu vaka dolayısıyla epilepsi ile birlikte ihtiyozisi olan vakalarda SLS'nin de düşünülmesi gerektiğini vurgulamak istedik.