Behçet hastalığı ve ventriküler hemanjioblastoma

Behçet hastalığı multisitem özellikle ağız ve genital ülser ile seyreden inflamatuar vaskülitik bir hastalıktır. Fakat nörolojik tutu- lum subklinik veya hafif olarak bazı hastalarda bulunabilir. Hemanjioblastoma benign santralsinir sisteminin vasküler tümörüdür. Burada 25 yaşında baş ağrısı, baş dönmesi ve kusma şikayeti olan hemanjioblastomalı bir behçet hastalığı olan erkek hasta sunulmuştur.Behçet disease is an inflammatory multisystem vasculitic disease which has a classical triad of oral and genital ulcerations with uveitis. But the neurological involvement may present mild and subclinic symptoms at some patients. Hemangioblastoma is a bening vascular tumor of central neural system. Here in, we aimed to present a 25 years-old man with neuro-Behcet's disease in a patient who was admitted with the complaints of headache, dizziness and vomiting with hemangioblastoma which rarely showing ventricular located

Pneumosinus dilatans case mimicking orbital pathology in patient with visual loss

Pnömosinüs dilatans; paranazal sinüslerin anormal lokalize genişlemesidir. Kranial manyetik rezonans görüntüleme tetkikinde paranazal sinüsler ayırt edilebilmelerine karşın varyasyonları yanlışlıkla lezyon olarak algılanabilir. Manyetik alan duyarlılığının farklılık gösterdiği dokuların komşuluğunda susseptibilite artefaktı oluşabilir ve kolaylıkla tanınırlar. Susseptibilite artefaktlarının atipik görünümleri ise gerçek olmayan lezyon görünümüne yol açarak yanlış tanılara yol açmaktadır. Artefakt ile lezyon ayırımının yapılamadığı durumlarda bilgisayarlı tomografi incelemesi yapılmalıdır. Bu nedenle kranial veya orbital MRG incelemelerinde paranazal sinüslere komşu alanlarda izlenen lezyon görünümlerinde sinüs varyasyonları gibi benign oluşumlar ayırıcı tanıda düşünülmelidir. Bu yazıda görme kaybı ile başvuran ve kranial MRG tetkikinde orbital bölge komşuluğunda yalancı lezyon görünümü oluşturan ve yapılan kontrol kranial bilgisyarlı tomografi tetkikinde pnömosinüs dilatans tespit edilen olguyu sunmayı amaçladık.Pneumosinus dilatans is an abnormal localized dilatation of paranasal sinuses. Although cranial magnetic resonance imaging can help for differentiation of paranasal sinuses, variations may be misdiagnosed as a lesion. Susceptibility artifacts may be formed around tissues where the magnetic field sensitivity differs and these can be easily recognized. Atypical appearance at these susceptibility artifacts can cause pseudolesion appearances that in turn cause misdiagnoses. If the artifact do not differentiation from the lesion, computed tomography should be performed. For this reason, in the differential diagnosis of lesions especially close to the paranasal sinuses, benign formations like sinus variations should be kept in mind in the cranial and orbital MRI. In this case, we aimed to present a case diagnosed at pneumosinus dilatans in control cranial computed tomography evaluation who came with loss of vision and is found pseudolesion appearance in orbital region neighbourhood in MRI

Pneumosinus Dilatans Case Mimicking OrbitalPathology In Patient With Visual Loss

Pneumosinus dilatans is an abnormal localized dilatation of paranasal sinuses. Although cranial magnetic resonance imaging can help for differentiation of paranasal sinuses, variations maybe misdiagnosed as a lesion. Susceptibility artifacts may be formed around tissues where the magnetic field sensitivity differs and these can be easily recognized. Atypical appearance atthese susceptibility artifacts can cause pseudolesion appearances that in turn cause misdiagnoses.If the artifact do not differentiation from the lesion, computed tomography should be performed.For this reason, in the differential diagnosis of lesions especially close to the paranasal sinuses, benign formations like sinus variations should be kept in mind in the cranial and orbital MRI.In this case, we aimed to present a case diagnosed at pneumosinus dilatans in control cranial computed tomography evaluation who came with loss of vision and is found pseudolesion appearance in orbital region neighbourhood in MRI

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium

Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease