Pediatric Diffuse Leptomeningeal Glioneuronal Tumors: Diagnosis, Follow-up, and Treatment Options.

Aim: To highlight the diagnosis, follow-up, and treatment options for diffuse leptomeningeal glioneuronal tumor (DLGNT) by examining pediatric patients diagnosed with DLGNT by molecular pathological evaluation and next generation sequencing at our center.

Material And Methods: In this retrospective analysis, patients diagnosed with DLGNT between January 2017 and December 2022 are outlined according to their demographic data, radiological data, pathology results, treatments, and follow-up data.

Results: Four patients were diagnosed with DLGNT.

Preliminary findings of German-sourced ONC201 treatment in H3K27 altered pediatric pontine diffuse midline gliomas.

Purpose: H3K27 altered pediatric pontine diffuse midline gliomas (pDMG) have a poor prognosis, and conventional treatments offer limited benefits. However, recent advancements in molecular evaluations and targeted therapies have shown promise. The aim of this retrospective analysis was to evaluate the effectiveness of German-sourced ONC201, a selective antagonist of dopamine receptor DRD2, for the treatment of pediatric H3K27 altered pDMGs.

Malignant nerve sheath tumor of oculomotor nerve in a pediatric patient.

Malignant nerve sheath tumors are extremely rare pathologies. They tend to occur within peripheral nerves and have close association of neurofibromatosis disease. Here, we present the second case of MNST of oculomotor nerve in literature.

Spinal intramedullary H3K27M mutant glioma with vertebral metastasis: a case report.

A new entity of gliomas, named "diffuse midline glioma (DMG), H3K27M mutant (grade IV)," which represents a specific molecular profile, was introduced to the World Health Organization (WHO) classification 2016 of central nervous system tumors. Many midline localizations have been described for this glioma, and mainly the hypothalamus, pons, thalamus, and spinal cord are sites of predilection in pediatric and young adult patients. We report the case of spinal intramedullary DMG, H3K27M mutant (WHO grade IV), that showed an unusual presentation with multiple vertebral metastases.

Is it a new culprit? "TERT promoter mutation" in an aggressive pediatric pilocytic astrocytoma.

Recent advances in the genomic study have revolutionized the discovery of molecular biomarkers in glioma not only to aid in targeted therapy but also to prognosticate character of tumor and outcome of a patient.The usually benign nature of pilocytic astrocytoma (PA) can now be challenged with the discovery of genomic alterations that could promote more aggressive clinical behavior. CDKN2A deletion and ATRX gene inactivation or mutation have been the most common molecular alterations in worse prognosis.

Current Clinical Practice About Pediatric Midline Gliomas in the Scope of Molecular Era.

Aim: To share our clinical experience with surgical and adjuvant treatment strategies followed during the treatment of midline gliomas.

Material And Methods: Pediatric patients with midline gliomas who underwent surgery in our clinic between March 2016 and November 2019 were included. Tissue samples were obtained through surgical excision, open biopsy, or stereotactic biopsy.

Developmental Concerns, Parental Perceptions and Missed Opportunities from Different Levels of Health Centers in a Middle-Income Country.

Objective: To evaluate the concerns the parents have with the development of their children and related conditions and investigate how often these concerns are addressed at all levels of the healthcare system. Determining parental perceptions of these issues and highlighting missed opportunities is valuable for improving healthcare services.

Methods: A total of 451 parents attending a medical appointment for their children in outpatient clinics at tertiary, secondary and primary health centers were administered a questionnaire comprised of 45 questions pertaining to their concerns regarding the development of their children and related conditions, including sociodemographic characteristics, practices supporting child development, information resources and personal opinions, such as whether they had sufficient information.

Is H3K27me3 status really a strong prognostic indicator for pediatric posterior fossa ependymomas? A single surgeon, single center experience.

Purpose: Posterior fossa ependymomas (PFE) are among the most frequently occurring solid tumors in children. Their definitive treatment is surgical excision and adjuvant radio-chemotherapy. This study aimed to investigate prognostic effects of age, H3K27me3 status, extent of resection, radiation treatment (RT), Ki67 index, WHO grade, and ATRX and H3K27M mutations in PFE patients.

Changes in Callosal Angle After Successful Endoscopic Third Ventriculostomy Procedure in Pediatric Patients.

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 ETV 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 (EI), and frontal-occipital horn ratio (FOR) parameters were recorded, with changes analyzed using a paired-samples t-test.

Management of mature pineal region teratomas in pediatric age group.

Purpose: Mature pineal region teratomas differ from other pineal tumors in terms of their characteristic radiological appearance and their clinical outcome after gross total excision. Our aim is to share our clinical experience and treatment outcomes in pediatric patients with mature pineal region teratoma.

Methods: In this retrospective study, we reviewed clinical, radiological, and surgical data of ten patients who had radiologically predicted diagnosis of pineal region teratoma and pathologically confirmed diagnosis of mature pineal region teratoma between years 2004 and 2017 in our clinic.

Acute Obstructive Hydrocephalus due to a Giant Posterior Cerebral Artery Aneurysm in a Pediatric Patient.

Introduction: Intracranial aneurysms are very rare in children. Although subarachnoidal hemorrhage (SAH) is by far the most common presentation of aneurysms in the majority of the pediatric case series, it is not rare for an unruptured aneurysm to present with a mass effect. Acute hydrocephalus is a common finding following aneurysmal SAH.

In Vitro Effects of Mesenchymal Stem Cells and Various Agents on Apoptosis of Glioblastoma Cells.

Aim: To investigate a new anti-tumor treatment method using stem cells transfected with specific genes and proteins that induce apoptosis in tumor cells.

Material And Methods: We used glioblastoma (GBM) cells and human adipose tissue-derived mesenchymal stem cells (ADMSCs) in this study. The AD-MSCs were transfected with the tumor necrosis factor-related apoptosis-inducing ligand (TRAIL).

Malignant triton tumor of trigeminal nerve-case report.

Introduction: Here we are presenting a unique case of malignant triton tumor of the trigeminal nerve in a 4-year-old boy who presented with diplopia and ptosis.

Intervention: Near total excision of the tumor was performed, and adjuvant chemotherapy and radiotherapy were administered.

Results: The patient is in good health and has no evidence of clinical and radiological tumor recurrence for 22  months.

Significance of H3K27M mutation with specific histomorphological features and associated molecular alterations in pediatric high-grade glial tumors.

Purpose: Pediatric high-grade gliomas (pHGGs) constitute almost 15% of all childhood brain tumors. Recurrent mutations such as H3K27M mutation in H3F3A and HIST1H3B genes encoding histone H3 and its variants were identified in approximately 30% of pediatric glioblastomas. This study aimed to ascertain the morphological and molecular characteristics of pHGGs with H3K27M mutation.

Hypothalamic hamartoma presenting with infantile spasms.

Background: Hypothalamic hamartomas (HH) generally present with gelastic seizures. It is very unusual for a pediatric patient with HH to present with infantile spasms (IS).

Case Presentation: Here we present a 6-month-old boy diagnosed with IS whose brain magnetic resonance imaging (MRI) showed an 18 × 18 × 16 mm mass in the hypothalamus.

Diffusion tensor imaging of cervical spinal cord: A quantitative diagnostic tool in cervical spondylotic myelopathy.

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.

Hereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene.

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.

Deep brain stimulation as treatment for dystonic storm in pantothenate kinase-associated neurodegeneration syndrome: case report of a patient with homozygous C.628 2 T > G mutation of the PANK2 gene.

Pantothenate kinase-associated neurodegeneration (PKAN) syndrome is an autosomal-recessive neurodegenerative disease that causes progressive generalized dystonia. Currently, the disorder remains pharmacologically intractable. Herein we report the first case in which deep brain stimulation helped to relieve dystonic storm in a patient with PKAN syndrome who had homozygous c.

Neural tube defect family with recessive trait linked to chromosome 9q21.12-21.31.

Purpose: Meningomyelocele is one of the most common and socioeconomically, psychologically, and physically debilitating neurodevelopmental diseases. A few chromosomal locus and genes have been identified as responsible for the disease; however, clear evidence still needs to be produced. This study aimed to show evidence of a strong genetic linkage in a novel chromosomal locus in a family with this neural tube defect.

Accessory lower limb associated with spina bifida: case report.

Purpose: Heterotopic redundancies, such as an accessory limb associated with spina bifida, are extremely rare anomalies. There are 12 cases of accessory limb associated with spinal bifida in literature. This report aims a detailed description of the additional case and an analysis of the findings in light.

Bubble over the head: Adeloye-Odeku disease in a Turkish child-case report.

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.

Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO.

We report genomic analysis of 300 meningiomas, the most common primary brain tumors, leading to the discovery of mutations in TRAF7, a proapoptotic E3 ubiquitin ligase, in nearly one-fourth of all meningiomas. Mutations in TRAF7 commonly occurred with a recurrent mutation (K409Q) in KLF4, a transcription factor known for its role in inducing pluripotency, or with AKT1(E17K), a mutation known to activate the PI3K pathway. SMO mutations, which activate Hedgehog signaling, were identified in ~5% of non-NF2 mutant meningiomas.

Trends in body mass index, blood pressure and parental smoking habits in middle socio-economic level Turkish adolescents.

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.