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Background: This study aimed to evaluate the characteristics of incidental findings (IFs) on computed tomography (CT) scans of trauma admissions, examine associations between IFs and gender and age-groups, and discuss the management strategies. Methods: The CT reports were retrospectively reviewed to evaluate IFs. Cases were divided into five age-groups (0–19, 20– 39, 40–59, 60–79,≥80). IFs were classified as "Group 1": congenital anomalies that do not require further investigation, non-degenerative/minor degenerative findings; "Group 2": findings that do not require immediate intervention, require outpatient follow-up/in case of symptoms; and "Group 3": findings that require immediate intervention/further investigation. Results: There were 2385 CT scans and 1802 incidental findings (IFs) in 783 trauma cases. CT scans with IFs constituted 50.2%. The percentage of IFs was 75.6% in males and 24.4% in females, and they occurred in 4.8%, 27.6%, 44.3%, 20.9%, and 2.4% of age groups 1 to 5, respectively. Group 1 had 34.6%, group 2 had 54.6%, and group 3 had 10.8% IFs. There was not any significant association between the classification and gender or age-groups. In terms of organs, IFs of the thyroid and gall bladder & bile ducts were significantly higher among females (P=0.044 and P

Background: Mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) is a clinic-radiological syndrome characterized by neurological deficiencies and reversible magnetic resonance imaging findings in the splenium of the corpus callosum. Usually, it has a good prognosis, and patients recover without any sequelae. A viral infection has caused most MERS cases, and bacterial agents have rarely been reported as a cause of MERS. Case report: A 5-month-old male was admitted to the hospital with fever, poor feeding, decreased activity and groaning. He had focal seizures and required mechanical ventilation. A lumbar puncture was performed, and nucleic acid amplification tests (NAATs) of cerebral spinal fluid was positive for non-typeable serogroup of Neisseria meningitidis. Cranial magnetic resonance imaging (MRI) performed on day 3 of admission showed T2 hyperintensity and diffusion restriction at the splenium of corpus callosum (SCC). Diffusion restriction in the occipital horn of the left ventricular compatible with empyema was also obvious. According to the findings on cranial MRI, this clinical course was diagnosed as MERS associated with meningitis. His fever resolved in one week, cefotaxime was discontinued after 14 days, and the patient completely recovered. A follow-up MRI performed after three weeks of admission showed complete resolution of the signal intensity changes in the SCC and the occipital horn of the left lateral ventricle. Conclusion: To the best of our knowledge, this is the first report of MERS associated with Neisseria meningitidis in children. Bacterial agents as a cause of MERS should be kept in mind, and we should avoid unnecessary treatment strategies due to the good prognosis of MERS in children. (C) 2021 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Surgical treatment of gliomas requires an intervention that does not leave residual tumor tissue in the brain and preserves functional centers. Although orientation parameters are not present in the traditional-MRI navigation information calculated from MRI, poor mans are observed for the neuro-oncological surgery in most parts of the world. The aim of this study is to obtain instant personalized neuro-navigational information through a 3D-patient-specific model to perform functional resection of the brain. 20 patients diagnosed with gliomas were included in this study. Neuro-oncological navigation calculations of 10 patients were carried out with traditional-MRI support and the remaining 10 with the 3D-model. In this way, the actual size of the tumor, its distance from cortical structures, and perioperative surgical planning were made by the 20 neurosurgeons based on the patient-specific model. They were required to compare their perception level of the cases with traditional-MR and 3D-models in terms of identifying the invasion of the mass, making the proximity to functional centers and anatomical structures as part of perioperative planning. All neurosurgeons have given higher scores for 3D-model supported neuro-navigations. 80–90% of them preferred the model in preoperative planning as they are beneficial in anticipating determining and envisaging the entire process of the functional resection covering the location and extent of craniotomy, the extent of tumor resection on functional areas. For this, orientation parameters of the neuro-navigation information such as tumor size, margin size of surgical resection, presence of functional areas in the gyrus/sulcus where the tumor is located, proximity of the tumor, anatomical structures as (ventricles, arteries, veins, myelinated pathways, capsula interna, basal ganglia) should be included. It also target the perioperative advantages of 3D supported neuro-navigational information over the traditional method.

Pretrained language models elevated with in-domain corpora show impressive results in biomedicine and clinical NLP tasks in English. However, there is minimal work in low resource languages. Although some pioneering works show promising results, many scenarios still need to be explored to engineer effective pretrained language models in biomedicine for low resource settings. This work introduces the BioBERTurk family, four pretrained models in Turkish for biomedicine. To evaluate models, we also introduce a labeled dataset to classify radiology reports of head CT exams. Two different parts of the reports, impressions, and findings, are evaluated separately to observe the performance of models on longer and less informative text. We compare models with the Turkish BERT-BERTurk pretained with general domain text, multilingual BERT, and an LSTM+attention-based baseline model. The first model initialized from BERTurk and then further pretrained with biomedical corpus performs statistically better than BERTurk, multilingual BERT, and baseline for both datasets. The second model continues to pretrain BERTurk model by using only radiology Ph.D. theses to test the effect of the task-related text. This model slightly outperforms all models on the impressions dataset and showed that using only radiology-related data for continual pretraining could be effective. The third model continues to pretrain by adding radiology theses to biomedical corpus but does not show a statistically meaningful difference. The final model combines radiology and biomedicine corpora with the corpus of BERTurk and pretrained a BERT model from scratch. This model is the worst performed model of the BioBERT family, even worse than BERTurk and multilingual BERT.

Introduction Pituicytoma is a rare tumor of the pituitary gland derived from neurohypophyseal pituicytes. Case 1 A 58-year-old female presented with decreased vision; she was admitted to the neurosurgery department of Ege University after the detection of a pituitary macroadenoma. Magnetic resonance imaging (MRI) showed a 28 * 18 * 17-mm suprasellar mass, and laboratory tests revealed hypopituitarism. Hydrocortisone and L-thyroxine treatment were initiated, and the patient underwent resection through the endoscopic endonasal approach (EEA). The histopathological examination revealed a pituicytoma. The recurrence of tumor was detected during the 1-year follow-up, and the patient is awaiting surgery. Case 2 A 70-year-old woman presented with visual changes; she had a past medical history of hypophyseal macroadenoma and pituicytoma resected through an EEA in 2012 and 2017, respectively. During follow-up, 2 years after the second surgery, MRI showed progression of the pituicytoma then measuring 38 x 23 x 22 mm; it had invaded the cavernous sinus and was causing hydrocephaly and panhypopituitarism. The patient underwent the third resection through the transcranial approach in order to minimize bleeding. After this surgery, the patient developed diabetes insipidus and underwent treatment with desmopressin. Histopathological examination revealed a pituicytoma. At 6-month follow-up, imaging showed a sellar suprasellar mass 37 x 22 x 24 mm invading the cavernous sinus, indicative of recurrence. In the postoperative period, the patient applied to the department of radiation oncology to have fractionated radiotherapy. Discussion Pituicytomas are known to be low-grade tumors; because of their rarity, they are a real challenge. These patients should be followed up closely.

Introduction Neurogenic bladder with anorectal malformations (ARM) is a well-known yet understudied topic. Diffusion tensor imaging (DTI) is a special usage of MRI that can evaluate peripheric nerves. The aim of this study is to evaluate the lumbosacral plexuses of patients with ARM using DTI. Patients and methods Patients with ARM willing to participate were included. Patient files were reviewed, a questionnaire was made, and DTI was performed. Fractional anisotropy (FA) and apparent diffusion coefficient (ADC) were computed for the right and left lumbosacral plexuses. Results There were 18 patients and 12 controls. Groups were similar in terms of sex (p = 0.232) and age (p = 0.853). There was a significant difference only for ADC of the left plexus. There was visible asymmetry in tractographies and DTI parameters of two patients with severely deformed pelvises (image 1) but also in another patient with a normal sacrum. In addition, despite asymmetry, FA and ADC were similar to controls also in these patients. Conclusion This is the first study presenting quantitative data about the lumbosacral plexus in ARM. We think the most interesting finding of this study was observing the normal values even in the patients with severely malformed sacrum which is yet to be validated with further studies., Aliye Uster Foundation (Izmir, Turkey) research scholarship; research activities in Ege University, This work was supported by Aliye Uster Foundation (Izmir, Turkey) research scholarship. This is an independent organization funding educational and research activities in Ege University. The authors have no conflict of interest regarding the study.

Cerebral venous thrombosis is a rare disease that can lead to morbidity and mortality. It can be seen in all age groups, most commonly between the ages of 30-40. Cerebral venous thrombosis patients may present with various clinical findings including headache, nausea, papilledema and less commonly seizures, encephalopathy, intracranial hemorrhage, multiple cranial nerve involvements.Variable presentation of patients creates difficulties in diagnosis. In this article, a patient who had a headache for 10 days and was first thought to have a thalamic tumor MRI but was found to have thrombosis in the internal cerebral veins as a result of detailed radiological examinations., Serebral venöz tromboz, morbidite ve mortaliteye yol açabilen nadir bir hastalıktır. En sık 30-40 yaş arası olmak üzere tüm yaş gruplarında görülebilir. Serebral venöz tromboz hastaları sıklıkla baş ağrısı, bulantı, papilödem daha nadir olarak nöbet, ensefalopati, intrakraniyal kanama, multipl kranial sinir tutulumlarını içeren çeşitli klinik bulgularla başvurabilir. Serebral venöz tromboz hastalarının değişken prezentasyonu tanıda zorluklar ortaya çıkarmaktadır. Bu yazıda 10 gündür baş ağrısı şikâyeti olan ve MR görüntülemelerinde ilk olarak alamik kitle olduğu düşünülen ancak ayrıntılı radyolojik incelemeler sonucu internal serebral venlerde tromboz saptanan bir olgu sunulmuştur.

EgeUn###, AIM: To present an overview of our awake craniotomy practices performed with complementary use of diffusion tensor imaging (DTI)-based neuronavigation (DTI-bN) and cortical-subcortical electrical stimulation for glioma resection located in eloquent areas, and the clinical outcomes of these practices regarding neurological morbidity and residual tumour volume. MATERIAL and METHODS: This study was conducted between October 2016 and December 2017 involving 18 cases. The DTI-bN method, in addition to cortical-subcortical stimulation, was done with awake craniotomy. Changes in the neurological status of the patients and results of the method regarding residual tumour volume were recorded. This retrospective study use data obtained from patients' records and radiological examinations. RESULTS: Of the 18 patients, a gross total resection was performed on nine patients (50%), a near total resection was performed on seven patients (38.8%) and a subtotal resection was performed on two patients (11.1%). Intraoperative neurological deterioration was observed in 14 of 18 patients during their surgical procedures, and neurological examinations in the sixth post-operative month revealed permanent deficits in two patients. CONCLUSION: This study is one of the rare series to have presented the results of the use DTI-bN method as well as cortical-subcortical stimulation during awake craniotomy, according to literature review. In 88% of cases, tumour resection rates are over 90%.

Background: Standart interventional procedures such as screw instrumentation, aortic arch endovascular surgery and cervical nerve blockade may be of fatal risk due to anatomic reason of variations in the proximal part of the vertebral artery (VA). The aim of this study is to study the VA variations of the extracranial segments to evaluate the frequency of the incident to demonstrate the importance of clinical condition strategy. Methods: The prevalence of variations and morphometric measurements of the VA in three-dimensional computed tomographic angiography (3D-CTA) scans were studied. Total 400 VA was investigated for the aortic arch origin of the VA, diameter of the VA, its level of entry into the transverse foramen, the dominance sides, and related basilar artery course. Results: 3D-CTA radiographs of 200 Anatolian patients (120 men and 80 women with age range 17–90 years). In most cases (approximately 94%), both sides of VA were the first branch of subclavian artery. While all the right VAs was branched from the subclavian artery, 6% of the left VAs were branched from the aortic arch. 2/3 of them originated from the proximal of the subclavian artery and 1/3 from the distal. The VA which were originating from the proximal of the classical anatomic pattern tended to enter the transverse foramen more distally than C6 level. VAs with a different level of entry than C6 are left-sided and aortic arch originated (out of 8 cases 3 had a level of entry at C5 and 2 at C4). The outer diameter ranges of the prevertebral part of the VA of subclavian origin and left VA of aortic arch origin were 3.2–3.6 mm and 3.2–3.6 mm, respectively. While the diameters of the right and left VAs were almost the same in approximately 20% cases, the left VA was dominant in up to 60% of cases. A significant relationship was found between the side of the dominant VA and in the course of the basilar artery. Conclusions: The relationship between the dominant side of VA and the course of the basilar artery of its own vessel has never been reported elsewhere. Such anatomical variations, routine preoperative 3D-CTA evaluation is mandatory to prevent the VA injury when C5-C2 instrumentation, anterior cervical decompression, cervical nerve blockade and aortic arch surgery are planned. © 2021, The Author(s), under exclusive licence to Springer-Verlag France SAS, part of Springer Nature.

Posterior reversible encephalopathy syndrome (PRES) is a clinical and radiological syndrome, characterized by acute onset of headache, altered mental status, visual impairment, nausea, vomiting, seizure, and hypertension. PRES is a reversible condition if it is recognized early, but neurological damage or even death may occur. Herein, we present two cases of ALL who developed PRES during their induction therapy and a literature review of PRES.

Objectives: The present study describes clinical, biochemical, molecular genetic data, current treatment strategies and follow-up in nine patients with tetrahydrobiopterin (BH4) deficiency due to various inherited genetic defects. Methods: We analyzed clinical, biochemical, and molecular data of nine patients with suspected BH4 deficiency. All patients were diagnosed at Ege University Faculty of Medicine in Izmir, Turkey and comprised data collected from 2006 to 2019. The diagnostic laboratory examinations included blood phenylalanine and urinary or plasma pterins, dihydropteridine reductase (DHPR) enzyme activity measurement in dried blood spots, folic acid and monoamine neurotransmitter metabolites in cerebrospinal fluid, as well as DNA sequencing. Results: Among the nine patients, we identified one with autosomal recessive GTP cyclohydrolase I (ar GTPCH) deficiency, two with 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency, three with sepiapterin reductase (SR) deficiency, and three with DHPR deficiency. Similar to previous observations, the most common clinical symptoms are developmental delay, intellectual disability, and movement disorders. All patients received treatment with l-dopa and 5-hydroxytryptophan, while only the ar GTPCH, the PTPS, and one DHPR deficient patients were supplemented in addition with BH4. The recommended dose range varies among patients and depends on the type of disease. The consequences of BH4 deficiencies are quite variable; however, early diagnosis and treatment will improve outcomes. Conclusions: As BH4 deficiencies are rare group of treatable neurometabolic disorders, it is essential to diagnose the underlying (genetic) defect in newborns with hyperphenylalaninemia. Irreversible brain damage and progressive neurological deterioration may occur in untreated or late diagnosed patients. Prognosis could be satisfying in the cases with early diagnose and treatment. © 2021 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.

Introduction: Pathogenic variants in SURF1, a nuclear-encoded gene encoding a mitochondrial chaperone involved in COX assembly, are one of the most common causes of Leigh syndrome (LS). Material-methods: Sixteen patients diagnosed to have SURF1-related LS between 2012 and 2020 were included in the study. Their clinical, biochemical and molecular findings were recorded. 10/16 patients were diagnosed using whole-exome sequencing (WES), 4/16 by Sanger sequencing of SURF1, 1/16 via targeted exome sequencing and 1/16 patient with whole-genome sequencing (WGS). The pathogenicity of SURF1 variants was evaluated by phylogenetic studies and modelling on the 3D structure of the SURF1 protein. Results: We identified 16 patients from 14 unrelated families who were either homozygous or compound heterozygous for SURF1 pathogenic variants. Nine different SURF1 variants were detected The c.769G > A was the most common variant with an allelic frequency of 42.8% (12/28), c.870dupT [(p.Lys291*); (8/28 28.5%)], c.169delG [(p.Glu57Lysfs*15), (2/24; 7.1%)], c.532 T > A [(p.Tyr178Asn); (2/28, 7.1%)], c.653_654delCT [(p.Pro218Argfs*29); (4/28, 14.2%)] c.595_597delGGA [(p.Gly199del); (1/28, 3.5%)], c.751 + 1G > A (2/28, 4.1%), c.356C > T [(p.Pro119Leu); (2/28, 3.5%)] were the other detected variants. Two pathogenic variants, C.595_597delGGA and c.356C > T, were detected for the first time. The c.769 G > A variant detected in 6 patients from 5 families was evaluated in terms of phenotype-genotype correlation. There was no definite genotype – phenotype correlation. Conclusions: To date, more than 120 patients of LS with SURF1 pathogenic variants have been reported. We shared the clinical, molecular data and natural course of 16 new SURF1 defect patients from our country. This study is the first comprehensive research from Turkey that provides information about disease-causing variants in the SURF1 gene. The identification of common variants and phenotype of the SURF1 gene is important for understanding SURF1 related LS. Synopsis: SURF1 gene defects are one of the most important causes of LS; patients have a homogeneous clinical and biochemical phenotype. © 2020 The Authors, G0800674 Biotechnology and Biological Sciences Research Council, BBSRC: L016354 European Molecular Biology Organization, EMBO EMBO Türkiye Bilimsel ve Teknolojik Araştirma Kurumu, TÜBITAK Bilim Akademisi Newcastle upon Tyne Hospitals NHS Foundation Trust NIHR Bristol Biomedical Research Centre Lily Mae Foundation Medical Research Council, MRC, RM and RWT are supported by the Wellcome Centre for Mitochondrial Research ( 203105/Z/16/Z ), the Medical Research Council (MRC) International Centre for Genomic Medicine in Neuromuscular Disease, the Mitochondrial Disease Patient Cohort (UK) ( G0800674 ), Newcastle University Centre for Ageing and Vitality (supported by the Biotechnology and Biological Sciences Research Council and Medical Research Council L016354 ), UK NIHR Biomedical Research Centre for Ageing and Age-related disease award to the Newcastle upon Tyne Hospitals NHS Foundation Trust , the Lily Foundation and the UK NHS Specialist Commissioners which funds the “Rare Mitochondrial Disorders of Adults and Children” Diagnostic Service in Newcastle upon Tyne ( http://www.newcastle-mitochondria.com . OA is supported by the European Molecular Biology Organization (EMBO) Installation grant funded by the Scientific and Technological Research Council of Turkey (TUBITAK); Science Academy, Turkey; TUBITAK International Fellowship for Outstanding Researchers Programme.

Background and objectives. Acute disseminated encephalomyelitis (ADEM) is an immune-mediated, inflammatory and demyelinating disorder of the central nervous system. There have been a few studies in recent years on the fact that these cases have neurocognitive impairment. The purpose of this study is to evaluate the neurocognitive outcome and quality of life in cases with ADEM. Methods. Eleven cases who were on follow-up between 2008 and 2017 were included in the study, systemic, neurological and psychiatric examinations were done. All magnetic resonance images were re-evaluated. The neuropsychiatric evaluation was performed by clinical examination and psychometric scales; (1) The Pediatric Quality of Life Inventory 4.0, (2) Child Behavior Checklist, (3) Children’s Depression Inventory, (4) The Wechsler Intelligence Scale for Children-Revised and (5) Continuous Performance Test. The cases in our study underwent neuropsychiatric evaluation 3-42 months after the diagnosis of ADEM had been established. Results. Nine cases (81.8%) fully recovered without neurologic deficit. One case (9.1%) had a psychiatric disorder. During follow-up, cognitive and psychiatric problems were encountered in half of the cases (54.5%). Most of the cases with basal ganglia involvement (80%) displayed attention deficit and cognitive problems. Conclusion. In particular, cases with basal ganglia involvement should be followed carefully in terms of attention and cognitive problems.

This study aimed to investigate the role of computed tomography (CT) in identifying missed unstable blunt cervical injuries.Patients admitted to the emergency department between June 2014 and June 2018 with a diagnosis of blunt cervical trauma were included in this study. All participants underwent cervical magnetic resonance imaging (MRI) after an initial cervical CT investigation. All imaging results were reviewed, and decisions were taken by the consensus of a team consisting of an emergency medicine specialist, a neuroradiologist, and a neurosurgeon. Other variables included age, sex, the Glasgow Coma Scale, medical comorbidities, multi-trauma, neurological deficits, accompanying intracranial hemorrhage, extremity fractures, and the mechanism of the injury.Data for 195 patients were analyzed. The mean (±standard deviation) age of the participants was 47.34±21.90 years, and 140 (71.8%) were males. Eighteen patients (9.2%) were below age18. The most frequent mechanism of injury was fall from height (n=100; 51.3%). Using MRI as the gold standard, the sensitivity of CT in diagnosing unstable cervical injury was 77.7% (95% CI [67.1-86.1]), while its specificity was 100.0% (95% CI [59.0-100.0]).Although computed tomography is relatively good in diagnosing unstable cervical injuries, its sensitivity in detecting positive cases is not as successful. Thus, the use of MRI in patients with an unstable injury seems to be warranted.

WOS: 000446711000001, PubMed ID: 30317832, Objective: Radioiodine is the most specific radionuclide for differentiated thyroid carcinoma (DTC) imaging. Despite its high specificity and sensitivity, false-positive I-131 uptake could be seen on whole body scan (WBS) that may lead to misdiagnosis and unnecessary radioiodine treatment. In this study, we aimed to present the I-131 WBS and concomitant single photon emission computed tomography/computed tomography (SPECT/CT) images of unexpected false-positive radioiodine uptake along with the patients' clinical outcomes and the contribution of SPECT/CT imaging. Methods: I-131 WBSs of 1507 patients with DTC were retrospectively reviewed, and anticipated I-131 uptakes (like in breasts or thymus) were excluded from the study. The unexpected false-positive I-131 uptakes with concomitant SPECT/CT imaging were included in the study. Results: Twenty-one patients had 23 unexpected I-131 uptakes on WBS and concomitant SPECT/CT imaging. The vast majority (87%) of these cases were seen on post-therapeutic I-131 WBS. Most of the false-positive I-131 uptakes could be explained by SPECT/CT and radiologic findings, and were secondary to non-thyroid conditions (bronchiectasis, lung infection, subcutaneous injection into gluteal fatty tissue, aortic calcification, benign bone cyst, vertebral hemangioma, recent non-thyroid surgical procedure site, rotator cuff injury, mature cystic teratoma and ovarian follicle cyst). However, the possible reasons of 9 false-positive I-131 uptakes could not be explained by radiologic findings. Conclusion: We suggest that false-positive I-131 uptake and its underlying mechanisms (inflammation, trapping, increased perfusion, etc.) must be kept in mind in patients with thyroid cancer and unexpected findings must be considered together with serum thyroglobulin levels, SPECT/CT and radiologic findings in order to avoid misdiagnosis and unnecessary radioiodine treatment.

Background Transarticular screw fixation has fatal complications such as vertebral artery (VA), carotid artery, and spinal cord injuries. The landmarks for deciding the entry point for C1 lateral mass screws were clarified by using life-size 3-dimensional (3D) patient-specific spine models. Methods This study included a total of 10 patients with C1 fractures. Dual-energy computed tomography (CT) scan data from C1 pre- and postscrewing were modified into 3D patient-specific life-size cervical spine models. The detailed information, such as bony and vascular elements, of 13 separate parameters of C1 was used as an intraoperative reference. Results 3D patient-specific models were created preoperatively with the fracture and postoperatively with the screwed vertebrae. After CT scans of the models were measured, the life-size patient-specific models were proven to be individualized. 3D models assisted in determining the fracture locations, pedicle sizes, and positions of the VA. The range of the measurements for ideal point of entry reveals the need for patient-specific intervention was required. Conclusions 3D models were used in surgical planning maximizing the possibility of ideal screw position and providing individualized information concerning cervical spinal anatomy. The individualized 3D printing screw insertion template was user-friendly, of moderate cost, and it enabled a radiation-free cervical screw insertion.

WOS: 000436882600004, Aim: The purpose of our study is to submit the demographic, phenotypic and age at diagnosis characteristics of children with GM2 gangliosidosis. Materials and Methods: Patients with GM2 gangliosidosis who were referred to Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Nutrition and Metabolism between January 2004 and December 2016, were included in this study. Diagnosis was confirmed by determimng the level of serum beta-hexosaminidase activity and genetic mutation analysis. The demographic and clinical features are reported for 8 patients with Tay-Sachs disease (TSD) and 6 with Sandhoff disease. Results: The mean age at diagnosis was 18.2 months (range 4-48 months) and 14.5 months (range 8-36 months) for patients with TSD or Sandhoff disease respectively. The initial and main complaint in 100% of the patients were neurological disorders, such as developmental delay, developmental regression or both; seizures and macrocephaly. None of the patients exhibited evidence of organomegaly. Cranial magnetic resonance imaging results were normal in 38% of the cases, 55% of the cases had bilateral thalami involvement presenting as T2 hyperintensity especially at the posterior thalami and 9% of cases had myelination delay. Conclusion: GM2 gangliosidosis disease should be considered for children with developmental regression and/or delay. To prevent a delay in diagnosis, beta-hexosaminidase activity in serum and genetic mutation analysis should be undertaken in suspected cases. Curative gene therapy may be available in the future.

Amaç: Hemofagositik lenfohistiyositoz (HLH) kontrolsüz immün yanıta yol açan hiperinflamasyonla karakterize klinik bir sendromdur. Etiyolojiye bağlı primer ve sekonder olarak sınıflanmaktadır. Klinik bulguları arasında ateş, splenomegali, hepatit yer almaktadır. Tanı doku örneklenmesi ile konulur. Familyal HLH’li hastaların santral sinir sistemi (SSS) tutulumu hastalığın prognozunu ve klinik gidişini olumsuz etkileyen bir faktördür. SSS tutulumunun bulguları; progresif ensefalopati, irritabilite, nöbet, kraniyal sinir paralizisi, ataksi, nistagmus, yürüme ve görme bozukluğu, psikomotor gelişim geriliğidir. Bu çalışmada, SSS tutulumu olan 6 olgunun radyolojik görüntüleme bulgularını sunmayı amaçladık.Gereç ve Yöntem: Bir-onbir yaş aralığında 6 hasta irritabilite, nöbet, ataksi, nistagmus, yürüme ve görme bozukluğu, psikomotor gelişim geriliği gibi nörolojik bulgularla hastanemize baş vurdu ve nörolojik muayene sonrasında kranyal manyetik rezonans görüntüleme (MRG) incelemesi gerçekleştirildi.Bulgular: Hastalarımıza klinik ve laboratuvar değerlendirmeleri sonrasında yapılan kemik iliği biyopsisi ile HLH tanısı konuldu. Hastalarımızın tamamında SSS tutulumunu gösteren kraniyal MRG bulguları saptandı. MRG incelemesinde T2 ağırlıklı ve FLAIR sekanslarında serebral hemisferlerde hiperintens odaklar ve postkontrast serilerde patolojik kontrastlanma ortak bulgular olarak belirlendi.Sonuç: HLH hastalığının santral sinir sistemi tutulumu yüksek mortalite ve morbidite ile seyretmektedir. Kraniyal MRG SSS tutulumunu göstermede önemli rol oynamaktadır., Aim: Hemophagocytic lymphohistiocytosis (HLH) is a clinical syndrome characterized by hyperinflammation causing uncontrolled immune response. It is classified as primary and secondary according to etiology. Fever, splenomegaly, hepatitis are among the clinical findings. The diagnosis is made with tissue sampling. The central nervous system (CNS) involvement of familial HLH patients is a factor that affects the prognosis and course of the disease. The findings of CNS involvement include progressive encephalopathy, irritability, attack, cranial nerve paralysis, ataxy, nistagmus, walking and visual impairment, psychomotor development deficiency. In this study, we aimed at presenting the radiologic imaging findings of 6 cases with CNS involvement.Materials and Methods: Six patients between the ages of 1-11 years applied to our hospital with neurological findings such as irritability, attack, cranial nerve paralysis, ataxy, nistagmus, walking and visual impairment, psychomotor development deficiency. Following the neurological examination, the cranial magnetic resonance imaging (MRI) examination was conducted.Results: HLH diagnosis was made through bone marrow biopsy after clinical and laboratory evaluations. Cranial MRI findings indicating CNS involvement were observed in all of our patients. Hyperintense foci in cerebral hemispheres and pathological contrast enhancement in postcontrast series were defined in T2 and FLAIR sequences in MRI examination.Conclusion: The central nervous system involvement of HLH disease is observed with high mortality and morbidity. Cranial MRI plays a significant role in revealing CNS involvement.

Amaç:Mukopolisakkaridoz (MPS) tip IVa (Morquio Sendromu) otozomal resesif geçişli N-asetilgalaktozamin-6- sulfataz eksikliği sonucu görülen multisistemik tutulum gösteren bir hastalıktır. İskelet sisteminin etkilenmesi temel bulgudur ve odontoid hipoplaziye bağlı servikal miyelopati ve atlantoaksiyal subluksasyona bağlı ağır nörolojik komplikasyon riski yüksektir. Şiddetli kifoskolyoz, platispondili, vertebra korpuslarında yuvarlaklaşma da sıklıkla izlenebilen diğer iskelet deformiteleridir. MPS IVa tanısıyla izlenen 12 hastanın klinik bulguları ve spinal manyetik rezonans görüntüleme (MRG) bulguları değerlendirildi.Gereç ve Yöntem:MPS tip IVa tanısıyla izlenen 12 hastanın demografik özellikleri, sistem tutulumları ve spinal MRG bulguları kaydedildi.Bulgular:Çalışmaya alınan hastaların yaş ortalaması 13.5 (4-33) iken, ortalama tanı yaşı 8 (3-32) idi. 12 hastadan 5’i erkek, 7’si kadındı. Sistemik muayenede korneal bulutlanma (11 olgu) işitme kaybı (5 olgu), hepatomegali (4 olgu), adenoid hipertrofi (opere edilmiş 4 olgu), kardiyak tutulum (9 olgu), tüm hastalarda kemik incelemede disostozis multipleks bulguları saptandı. Spinal MRG’de tüm hastalarda vertebra korpus yükseklik kaybı ve vertebra plana bulgusu, intervertebral disk mesafelerinde genişleme, farklı seviyelerde disk protrüzyonları, foramen magnumda daralma tespit edildi. Dört hastada foramen magnum düzeyinde kranioservikal bileşkede myelopatik değişiklikler görüldü.Sonuç:Hastalar özellikle klinik ve radyolojik bulguları ile tedavi seçenekleri ve dekompresif cerrahi gerekliliği açısından değerlendirilmelidir. Hastaların multidisipliner izlemi, komplikasyonların önlenmesinde ve erken tedavide önem taşımaktadır.

Nasal type NK/T-cell lymphoma, which accounts for 5-10% of non-Hodgkin lymphomas, is important due to low survival rates and poor prognosis in primary rhinosarcoma lymphomas. This type of non-Hodgkin lymphoma with a progressive clinical picture destroying the nose, sinuses, soft and hard palate can be confused with symptoms caused by invasive fungal rhinosinusitis. The underlying nasal type NK/T cell lymphoma is a risk for secondary invasive fungal rhinosinusitis that may locally develop damage to the epithelium and invasion of blood vessels. This article is aimed at presenting a case of pathologically diagnosed nasal type NK/T cell lymphoma which is suspected of invasive fungal rhinosinusitis, empirically initiated antifungal therapy and Aspergillus flavus isolated in tissue culture. This case is presented to emphasize the importance of differential diagnosis of invasive fungal sinusitis and primary rhinonasal lymphoma in patients without risk factors, such as underlying immunosuppressive condition and uncontrolled diabetes mellitus.

Amaç: Pediatrik grup santral sinir sistemi (SSS) patolojilerinde MT'nin konvansiyonel MRI sekanslarına katkısı, normal olgularda MT bulguları ve yaşa göre gösterdiği değişikliklerin sunulması amaçlandı. Gereç ve Yöntem: Hastanemize değişik nörolojik yakınmalarla başvuran 126 hasta (48 kız, 78 erkek), 28 olgu infant (1 ay-2 yıl), 98 çocuk (2-18 yıl) olmak üzere 2 farklı yaş grubundaydı. Konvansiyonel ve MT MRI incelemeleri yapıldı. Normal gruptaki olgularımızın verilerinin istatistiksel değerlendirilmesinde t-test, korelasyon ve varyans analizi yöntemleri kullanıldı. Bulgular: Altmış altı normal olgunun (36 erkek, 30 kız çocuğu), 18 anatomik lokalizasyonda cinsiyet ile Manyetizasyon Transfer Ratio (MTR) arasında anlamlı istatistiksel fark saptanmadı. Normal gruptaki (28 olgu 0-24 ay, 26'si 24-108 ay, 12'si 109-192 ay) yaş grubunda olgularda MTR değerlerinin ilerleyen yaş ile artışı korelasyon analizine göre yapılan incelemede talamus dışında istatistiksel olarak anlamlı bulundu. Gri cevher yapılarında en yüksek değer globus pallidus, nucleus dentatus ve nucleus ruberde izlenmiştir. Klinik ve konvansiyonel MRG teknikleri ile tanısı konulan nörometabolik ve nörodejeneratif hastalıklarda, SSS enfeksiyonları, beyin tümörleri gibi SSS patolojilerinde aynı yaş grubundaki normal olgularla karşılaştırmalı olarak yapılan değerlendirmede etkilenen alanlarda daha düşük MTR değeri bulundu., Aim: It is aimed to evaluate the contribution of Magnetization Transfer (MT) to conventional magnetic resonance imaging in pediatric central nervous system pathologies, and to present the MT findings and the changes in Magnetization Transfer Ratio (MTR) with age in normal pediatric cases. Materials and Methods: A total of 126 pediatric patients (48 girls and 78 boys), who presented to our hospital with various neurological complaints, were divided into two different age groups: 28 infants (1 month-2 years) and 98 children (2-18 years). They underwent conventional and MT MRI examinations. T-test, correlation analysis and variance analysis were used for statistical evaluation of data of the cases in the normal group. Results: No statistically significant difference was found in the MTR of 66 normal cases (36 boys and 30 girls) in 18 anatomical locations between the genders. Correlation analysis performed in normal cases revealed that increased MTR was significantly correlated with increasing age, excluding the MTR of thalamus, in all age groups (28 cases were between 0 and 24 months of age, 26 were between 24 and 108 months of age, and 12 were between 109 and 192 months old). Among grey matter structures, the highest MTR was observed in globus pallidus, dentate nucleus and nucleus ruber. In the comparison of the cases with neurometabolic and neurodegenerative diseases and CNS pathologies such as infections and tumors, diagnosed based on clinical examination and conventional MRI, with agematched normal cases, demonstrated lower MTR in the areas involved. Conclusion: It is thought that MT imaging, which is yet not available in routine practice, is helpful in diagnosis not alone but together with other MRI sequences

Anti-myelin oligodendrocyte glycoprotein antibodies have been associated with a wide range of clinical presentations including monophasic and relapsing disease courses. Lack of a definitive marker for predicting further relapses and the final diagnoses complicates the clinical follow-up and treatment decisions for patients with the first episode. This study retrospectively analyzed the clinical spectrum, treatment protocols and outcome of nine children with MOG antibody-associated demyelinating disease. Diagnoses at first presentation were acute disseminated encephalomyelitis (ADEM) in six cases (67%), optic neuritis in two cases (22%), and clinically isolated syndrome in one case (11%). The disease remained monophasic in five (56%) cases. All cases with a monophasic disease course were negative for anti-MOG antibody titers in the third month. The initial diagnosis of all relapsing cases was ADEM. Three of the four cases with a relapsing disease course were available for anti-MOG antibody testing at the third month and all were positive, however, antibody titers at the sixth month were inconsistent. Cases with a relapsing disease course had no further attacks after monthly intravenous immunoglobulin treatment. Relapsing disease course is not rare in childhood MOG-antibody associated demyelinating disease. Monthly IVIG treatment may be a good alternative for the long-term treatment of relapsing cases with a low side effect profile. Anti-MOG antibody serostatus at remission periods should be interpreted cautiously. Further studies are needed to better understand and predict the clinical course of pediatric patients with MOG-antibody associated diseases. © 2020, Belgian Neurological Society.

Objectives: Patients with left ventricular assist devices (LVADs) frequently experience cerebrovascular complications. We investigated the complications, including intracra-nial hemorrhage (ICH) and ischemic stroke (IS), in patients with LVADs. Methods: A historical cohort study was performed at an emergency clinic including patients who underwent LVAD placement between February 16, 2015, and April 1, 2020. Of the 295 patients with LVADs, 71 (24.1%) were admitted to the emergency service between the study dates because of IS and ICH. Electronic medical files were reviewed, and patients were categorized as ICH or IS. Results: Of the included patients, 245 (83.0%) were male. The most common postoperative complications were pump thrombosis (26.8%, n = 79), blood culture positivity (19.3%, n = 57), and surgical bleeding (5.8%, n = 17). The most frequent LVAD indication was ischemic dilated cardiomyopathy (71.5%, n = 211). The mean age was 49.6 ± 16.7 and 51.3 ± 14.8 years for patients with and without neurological complications, respectively (P = 0.415). Neurological complications were seen in 65 (31.3%) patients with and in 6 (6.9%) patients without coronary ischemia (P < 0.001). Neurological complications were found in 39 (30.5%) patients with an implantable cardioverter defibrillator (ICD) and in 32 (19.2%) patients without an ICD (P = 0.024). Neurological complications were found in 19 (61.3%) patients with and in 52 (19.7%) patients without a history of stroke (P < 0.001). Logistic regression analysis revealed that age and Glasgow coma scale (GCS) were the only significant variables independently affecting mortality status. While a younger age was a protective factor, a one-unit increase in the GCS was associated with a 4.1-fold (95% CI: 1.308-13.071) increase in mortality. Conclusions: Coronary ischemia, ICD, cerebrovascular disease, and smoking significantly affected the presence of complications. Moreover, patients with combined IS and ICH had a lower chance of recovering. Interventional procedures should be performed as early as possible, especially in elderly patients with a low GCS.

The calcification of the stylohyoid chain (SHC), elongated styloid process (SP), larger SP’ angle and its shortened distance of cervical internal carotid artery (CICA) are risk factors for bony compression and the stylocarotid syndrome. 3D-CTAs of 125 patients were analyzed in terms of the SP length, its angulations, type of the SHC and relationships of its proximity to the CICA. Elongated SP was observed frequently both in females (47%) and males (55%). The mean distance of the CICA to the SP was calculated as 8.2 ± 3.3 mm. This short distance between the CICA and the SP was observed more frequently in males (28.1%) and females (10.7%). The anterior and medial angulations of the SP were calculated as 71.2 ± 4.3°, and 57.3 ± 9.3°, respectively. In the present study, the SHC was determined as normal SP (54.2%), absence of the SP (1%), duplication of the SP (1%), elongated SP (26%), complete ossification of the SHC (1%), segmentation of the SHC (9%), fracture of ossification of the SHC (1.6%) and pseudo articulations of the SHC (5.6%). 3D-CTA was the most appropriate radiological investigation analyzing and measuring SHC (elongated, larger angle, shorter distances with CICA) and identifying types (duplicated, segmented, complete and fractured) resulting from pressures on the CICA. Our study also revealed the pressure on the artery not only arose from the tip of the SP but could also result from types stretching over the artery wall. In those specimens, there is a higher probability of formation of the stylocarotid syndrome due to the long-term pressure on the sympathetic chain around the CICA.

The aim of this study is to report the coexistence of retinal arterial macroaneurysms (RAMs) and cerebral aneurysms (CAs) in a 58-year-old woman with hypertension. She was noted as having a 1-week history of vision loss in her left eye, along with a 2-month history of a nonspecific headache. Visual acuity was 20/32 in her left eye and 20/20 in her right eye. A fundus examination revealed multiple areas of retinal hemorrhages that were surrounded by circinate exudation in her left eye, as well as the generalized attenuation of the retinal arteries in both of her eyes. Angiographically, hyperfluorescent round leakage points confirmed the presence of five saccular RAMs. Surprisingly, computed tomography angiography completed based on the recommendation of neurology department identified three saccular CAs. Aging, hypertension, and female preponderance are the common risk factors for both RAMs and CAs. Accordingly, RAMs and CAs may exist simultaneously in hypertensive patients. [ Ophthalmic Surg Lasers Imaging Retina. 2017;48:79–82.]

WOS: 000459561000002, PubMed: 30373485, Objectives: To evaluate the magnetic resonance imaging (MRI)-derived parameters in differentiation of patients with progressive supranuclear palsy (PSP) from patients with Parkinson's disease (PD), multiple system atrophy (MSA), and control subjects was aimed. Methods: Thirty-three patients [mean age, 65.21 +/- 4.75 years; PSP (n = 9), MSA (n = 8), PD (n = 6), and control subjects (n = 10)] who have undergone cranial MRI were included in this retrospective study. MRI-derived parameters including areas of midbrain and pons, midbrain area-to-pons area (M/P) ratio, widths of middle cerebellar peduncle (MCP) and superior cerebellar peduncle (SCP), MCP/SCP ratio, magnetic resonance parkinsonism index (MRPI), cerebral interpeduncular angle, and length of midbrain tegmentum were compared in patients with PSP, PD, MSA, and control subjects through the analysis of variance and Kruskal-Wallis tests with Bonferroni correction and Mann-Whitney U test. Results: The length of midbrain tegmentum, midbrain area, SCP, and M/P ratio were found to be lower, while cerebral interpeduncular angle and MRPI were higher in patients with PSP. Pons area, MCP width, and MCP/SCP ratio were found to be lower in patients with MSA. For PSP, cerebral interpeduncular angle has a sensitivity of 100% and specifity of 90%, and MRPI had a sensitivity of 88.9% and specifity of 100% for PSP. Discussion: Several MRI-derived parameters can be used in differentiation of patients with PSP from patients with PD, MSA and control subjects. The cerebral interpeduncular angle and MRPI, which demonstrated higher values in patients with PSP, were more significant for PSP than the other parameters.

EgeUn###, Purpose:Hinman syndrome is a rare disease with urodynamic findings and a clinical course resembling neuropathic bladder, without a neuropathic etiology. Diffusion tensor imaging is a special technique of magnetic resonance imaging that has recently been used to evaluate the peripheral nerves but has been demonstrated to be applicable for evaluation of the lumbosacral plexus. We examined the lumbosacral plexus using diffusion tensor imaging, which has not previously been reported in patients with Hinman syndrome.Materials and Methods:The study included 12 patients who fulfilled criteria for Hinman syndrome, with severe bladder dysfunction on urodynamics, renal scarring on scintigraphy and no pathological findings on magnetic resonance imaging. The 12 subjects serving as controls required pelvic or spinal magnetic resonance imaging for reasons other than spinal abnormalities. Evaluation was performed with a 3.0 Tesla magnetic resonance imaging system and 16-channel body coil. Tractography was done to examine the lumbosacral plexus. Fractional anisotropy and mean diffusivity were computed and compared between groups for the right and left plexuses.Results:Mean fractional anisotropy was 0.24 and 0.35 for the right plexus in patients and controls, respectively, and 0.24 and 0.36 for the left plexus. Mean diffusivity was 1.39 for the right and left plexuses in patients, and 1.28 for the right and left plexuses in controls (p, Aliye Uster Foundation (Izmir, Turkey), Supported by Aliye Uster Foundation (Izmir, Turkey) research scholarship.