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Objective Diffuse Midline Gliomas (DMG), H3 K27M-mutant have the poorest prognosis among all pediatric high-grade gliomas, with a median survival of 9-11 months. Although radiotherapy (RT) is standard treatment for these tumors, unfortunately there has been no approved and effective treatment which completely diminishes the tumor yet. In our clinic, we started an up-to-date approach to manage DMG, which is adjuvant fractionated external beam radiotherapy along with ONC 201 after tissue diagnosis. Methodology Between January 2016 and June 2021, a total of 11 patients with H3 K27M-mutant diffuse midline glioma, diagnosis confirmed by Next-Generation Sequencing (NGS) were enrolled in study. All patients received ONC201 orally once a week following radiotherapy. Safety, and radiological evaluations were regularly assessed every 12 weeks. Results Among the 11 patients, the median age of diagnosis was 5. Seven (63.6%) patients were male and 4 (36.4%) were female. Primary lesions were localized in the pons in 5 (45.5%) patients, unilateral thalamus (2 on the left, 1 on the right) in 3 (27.3%) patients, bilateral thalamus in 2 (18.2%) patients, and temporo-insular in 1 patient (9.1%). Median progression-free interval was 10 months and median overall survival was 16 months. Conclusion Diffuse midline glioma has dismal prognosis. None of the treatment options made any dramatic changes in disease course during last 30 years. In our series, diffuse midline glioma patients who had ONC201 tend to have few months more progression free and overall survival (16 vs 11 months) in comparison to patients who had classical treatment in literature. As a neurooncology team, we strongly advocate to obtain tissue samples from diffuse tumors, to establish definite diagnosis and to perform NGS

Objective Pediatric high grade gliomas(HGG) have dismal prognosis with median survival of 9-15 months after standard radio-chemptherapy. Recent molecular investigations revealed a missmatch repair defect called Constitutional Mismatch Repair Deficiency (CMMRD), which induce pediatric HGG. In CMMRD, there are mutations at least one of the mismatch repair(MMR) genes in both tumoral and non-tumoral DNA. Patients generally have cafe au lait spots resembling the ones in NF-1. Methodology Forty-four pediatric high-grade glioma cases operated in our clinic between 2015-2021 were included in the study. PMS2, MLH1, MSH6, MSH2 immunohistochemical antibodies were applied to the sections prepared from paraffin blocks with tumors of these 44 cases. Next generation Sequencing (NGS) Custom Panel for Brain Tumors was performed with DNA and RNA obtained from neoplastic tissue of 2 cases and germline NGS analysis was performed with DNA obtained from peripheral blood in 1 case. Results MMR protein expression loss was detected in 11 (25%) cases. In 5 (45%) of these 11 cases, MMR protein loss was detected in both neoplastic and non-neoplastic tissue, and these cases were considered as CMMRD. NGS performed in 2 of these 5 cases revealed a hypermutant profile. At least one MMR protein loss was found only in the neoplastic tissue in 6 (55%) of 11 cases, and PMS2 deficiency was the most common. In 1 of these 6 cases, MSH6 deficiency was shown as germline by NGS. Conclusion CMMRD and MMRD, are disorders with close relationship with pediatric high grade gliomas. Since CMMRD cases also may have cafe au lait spots, they should not be misdiagnosed as NF 1. Temozolomide induce more aggressive tumors in CMMRD ve MMRD, therefore its use is not suggested in those cases. Preliminary literature data advocate use of immunotherapy instead. All pediatric HGG cases should be evaluated for CMMRD and MMRD with molecular investigations to understand their biology.

Objectives: Epilepsy surgery is one of the treatment options in pediatric patients with drug-resistant epilepsy. Our aim is to share demographic data, surgical outcome, possible surgical complications, and factors that affect surgical outcome in pediatric patients with drug-resistant epilepsy who were operated in our clinic. Methods: In this retrospective study, 85 patients who were operated in Acibadem Hospital Pediatric Epilepsy Surgery Clinic between years 2005 and 2017 were included. We investigated the influence of sex, age at seizure onset, side and frequency of seizures, time to surgery, type of epilepsy surgery, and histopathology on pediatric epilepsy surgery outcome. Surgical outcome was assessed by Engel classification system. Statistical analysis was performed with SPSS 20.0 software. Results: There were 56 male (66\%) and 29 female (34\%) participants. Median of the age of seizure onset is 2 years (1 day-15 years). Median of age at operation is 6.2 years (3 months-16 years). Median of the duration of seizure until surgery is 3.2 years (3 months-15.5 years). Median follow-up is 5.6 years (3 months-13.5 years). There were permanent motor neurological deficits in 3 patients (3.5\%). The best surgical outcome was achieved in patients with resective surgeries (p

AIM: To determine whether callosal angle (CA) measurement, a diagnostic and prognostic tool used for normal-pressure hydrocephalus in adults, is a reliable radiological parameter for evaluating endoscopic third ventriculostomy (ETV) outcomes in pediatric patients. MATERIAL and METHODS: Forty-seven pediatric patients with hydrocephalus who underwent successful EN in our clinic between 2011 and 2015 were included in this study. Preoperative and postoperative three-month CA, lateral ventricle frontal horn (LVFH) width, Evans' index (El), and frontal-occipital horn ratio (FOR) parameters were recorded, with changes analyzed using a paired-samples t-test. RESULTS: There were 29 male and 18 female patients included within the cohort. For mean preoperative values, LVFH width was 58.8 +/- 14.9 mm, El was 0.43 +/- 0.09, FOR was 0.51 +/- 0.74, and CA was 78.5 degrees +/- 36.4 degrees. Separately, for mean postoperative values, LVFH width was 54 +/- 14.2 mm, El was 0.39 +/- 0.09, FOR was 0.47 +/- 0.07, and CA was 104.5 degrees +/- 32.6 degrees. The CA was increased and the LVFH width, El, and FOR were decreased in all patients within three months after surgery. The postoperative three-month change in CA was higher than those observed in the other parameters. CONCLUSION: Changes in CA after successful EN were dramatically higher than those in the other ventricular parameters. For this reason, we suggest CA be used as a radiological criterion during early radiological follow-up of patients after ETV.

Background: Diffusion tensor imaging (DTI) is a novel magnetic resonance imaging (MRI) technique potentially able to evaluate the microscopic structural organization of white matter fibers. Aim: This study aimed to compare fractional anisotropy (FA) and apparent diffusion coefficient (ADC) values obtained by DTI in stenotic versus nonstenotic cervical spinal segments of patients with clinical and neurological evidence of cervical spondylotic myelopathy (CSM). Materials and Methods: This prospective study included 21 patients with CSM but without T2 changes on conventional MRI. Diffusion tensor (DT) images from the stenotic and nonstenotic segments of the subjects were obtained. FA and ADC values were estimated and compared with stenotic versus nonstenotic segments. Statistical Analysis: Paired t-test was used [Statistical Package for the Social Sciences (SPSS) 12.0]. Results: In the most stenotic segments, the mean FA value was significantly lower (0.4228 ± 0.1090 vs 0.6884 ± 0.0075, P < 0.001) and the mean ADC value was significantly higher (1.312 ± 0.2405 vs 0.9183 ± 0.1477, P < 0.001) when compared to nonstenotic segments. In addition, there was a negative correlation between FA and ADC values (r = 0.63, P = 0.002). Conclusions: DTI of the cervical spine seems to be a promising novel imaging modality in patients with CSM. Advances in Knowledge: DTI may offer increased diagnostic sensitivity as compared to standard MRI and enables earlier detection of the disease.

Objectives: To evaluate the presence of upper urinary tractdeterioration (UUTD) and accompanying pathologies in childrentreated with the diagnosis of non-neurogenic bladder-sphincterdysfunction (NNBSD).Patients and Methods: We retrospectively reviewed themedical records of 316 consecutive patients with NNBSDwho were treated. All cohort were grouped into two: Group I(Treatment success; n=284), Group II (Treatment failure with anyform of occult spinal pathology; n=32). Thirty-four children withtreatment-failure and normal magnetic resonance imaging (MRI)findings were excluded. Groups were compared for pre- and posttreatmentpediatric lower urinary tract symptom score (PLUTSS),presence of UUTD and urodynamic findings.Results: The mean PLUTSS was significantly less in Group Icompared with Group II at pre-treatment and 3 months thereafterthe initial treatment (12.20 ± 5.90 and 5.20 ± 4.90 vs 20.3 ± 2.14and 18 ± 3.4, respectively p20 cmH2O and presence of vesicoureteral reflux (VUR)., Amaç: Nörojenik olmayan mesane–sfinkter fonksiyon bozukluğu(NOMSFB) tanısıyla tedavi edilen çocuklarda üst üriner sistemhasarı (ÜÜSH) ve eşlik eden patolojilerin araştırılmasıdır.Hastalar ve Yöntemler: NOMSFB nedeniyle kliniğimizdetedavi edilen 316 çocuğun tıbbi kayıtları retrospektif olarakincelendi. Çocuklar, tedavi yanıtına ve magnetic resonansgörüntüleme (MRG) bulgularına göre iki gruba ayrıldılar: GrupI (Tedaviye yanıt verenler; n=284) ile Grup II (Tedaviye dirençliolup, lomber MRG’sinde gizli spinal disrafizm bulgusu olanlar;n=32). Tedaviye dirençli olup lomber MRG’sinde patolojisaptanmayan 34 çocuk çalışma dışı bırakıldı. Gruplar tedavi öncesive sonrası semptom skoru (SS), ÜÜSH ile ürodinami bulgularıaçısından karşılaştırıldı.Bulgular: Tedavi öncesi dönemde ve tedavi başladıktan üçay sonra, Grup I’in ortalama SS’si Grup II’ye göre anlamlı olarakdüşük saptandı (sırasıyla 12,20 ± 5,90 ve 5,20 ± 4,90 karşın 20,3± 2,14 ve 18 ± 3,4; p

Patterns of cardiovascular risk factors in populations are not static over time. We examined trends in body mass index (BMI), parental smoking and blood pressure over a 15-year period in Turkish children aged 15-17 years. Two cross-sectional studies were performed in secondary schools in Turkey in 1989-1990 and 2004-2005. Study participants were 673 children in 1989-1990 and 640 adolescents in 2004-2005. Main outcome measures were weight, height, BMI, presence and amount of parental smoking, systolic and diastolic blood pressure. Age and sex matched comparisons were performed to assess temporal trends in these measures. Children in 2004-2005 had increased weight, height, BMI and decreased systolic and diastolic blood pressure in all age groups compared with children in 1989-1990. According to the international criteria, 3.4% of children were obese and 15.8% were overweight in 2005, compared to 0.7% obese and 4.2% overweight in 1990 (P

We report an association between a new causative gene and spastic paraplegia, which is a genetically heterogeneous disorder. Clinical phenotyping of one consanguineous family followed by combined homozygosity mapping and whole-exome sequencing analysis. Three patients from the same family shared common features of progressive complicated spastic paraplegia. They shared a single homozygous stretch area on chromosome 6. Whole-exome sequencing revealed a homozygous mutation (c.853\_871del19) in the gene coding the kinesin light chain 4 protein (KLC4). Meanwhile, the unaffected parents and two siblings were heterozygous and one sibling was homozygous wild type. The 19 bp deletion in exon 6 generates a stop codon and thus a truncated messenger RNA and protein. The association of a KLC4 mutation with spastic paraplegia identifies a new locus for the disease.

Adeloye-Odeku disease is composed of dermoid cyst over anterior fontanelle, first described in 1971. We present an 11-year-old girl with a soft, fluctuant swelling over bregma. The lesion content was isointense to cerebrospinal fluid on both T2W and FLAIRW images. There was a lytic area under the lesion, seen on CT. The lesion was totally excised. Histopathology confirmed the diagnosis. The case was unique; because a fibrous band was observed extending to superior sagittal sinus and it has never been reported before. Although lesions are sub-aponeurotic, because of this kind of fibrous band, a thorough examination with neuroimaging tools is very important for planning of surgery.

Genetic Clues to Meningioma Meningiomas are the most common primary brain tumors in adults. Located within the layer of tissue covering the brain, these tumors are usually slow-growing and benign but can cause serious neurological complications. About half of these tumors have mutations in the neurofibromin 2 gene ( NF2 ). To identify other genes that contribute to meningioma pathogenesis, Clark et al. (p. 1077 , published online 24 January) performed genome sequence analysis on 300 tumors. Meningiomas fell into two general classes: benign tumors located at the skull base—which tend to harbor mutations in the TRAF7, KLF4, AKT1 , and SMO genes—and higher-grade tumors located in the cerebral and cerebellar hemispheres harbor mutations in NF2.