Clinical factors, management, and outcomes of children under 3 years old with central nervous system tumors: single-center experience.

PURPOSE: Children under 3 years old represent a notable portion, about 25 to 30%, of all central nervous system tumor (CNS) cases. Their clinical course, prognosis, and treatment significantly differ from older children. This single-center retrospective study aims to comprehensively analyze survival factors in children under three diagnosed with CNS tumors. METHODS: Between April 2012 and December 2023, cases under 3 years of age with CNS tumors diagnosed at our center were retrospectively evaluated. RESULTS: Among 279 CNS tumor cases, 42 (15%) were evaluated. The 5-year overall and event-free survival rates were 67.4% (95% CI 47.5-81.1) and 39.8% (95% CI 24.2-55.0), respectively. Gender, symptom onset to diagnosis time, pathological neurological findings at diagnosis, and tumor location did not significantly impact survival (p > 0.05). However, cases with neurological symptoms showed significantly higher event-free survival rates (p < 0.05). Patients with embryonal tumors, metastases, inability for total surgical excision, relapsed/progressive diseases, and who under 1 year old had significantly lower survival rates (p < 0.05). Radiotherapy timing did not affect survival (p > 0.05). Event-free survival rates remained unchanged after the third year. CONCLUSION: The current treatments have been observed to have a positive impact on survival rates. Nonetheless, there is a need for novel treatments for patients with embryonal tumors, metastases, aged under 1 year, and those where total surgical excision is not feasible or in cases with progressive/relapse disease. This study underscores the importance of the first 3 years regarding relapse, progression, or mortality risk.

How do presentation age and CSF opening pressure level affect long-term prognosis of pseudotumor cerebri syndrome in children? Experience of a single tertiary clinic.

BACKGROUND: Diagnosis and treatment of pseudotumor cerebri syndrome in children is still a challenge for clinicians. The aim of this study is to reveal the influence of presentation age and CSF opening pressure on long-term prognosis of pseudotumor cerebri and share our clinical data of the very young age (≤ 5-year) group. METHOD: This retrospective study includes the patients followed by the Marmara University Pediatric Neurology Clinic between years 2012 and 2020 diagnosed with definite, probable, or suggestive pseudotumor cerebri syndrome according to modified Friedman criteria. Patients were classified into three groups according to presentation age: group 1: ≤ 5 years old; group 2: 6-10 years; and group 3 > 10 years old. CSF opening pressure was also categorized into three groups as CSF < 20 cmH20; CSF 20-30 cmH20; and CSF > 30 cmH20. RESULTS: One hundred three patients, 62.1% female (n = 64), were enrolled in the study. Group 1 consisted of 16 patients (60% male), group 2 consisted of 30 patients (63.3% female), and group 3 consisted of 57 patients (66.7% female). The mean CSF opening pressure did not differ between the three age groups in our study (p > 0.05). Treatment response was not correlated with CSF opening pressure. Papilledema presence and level of CSF opening pressure were independent of age (p > 0.05). CONCLUSIONS: Age at presentation and CSF opening pressure at diagnosis are not any predictive factors that influence long-term prognosis of pseudotumor cerebri syndrome in children. Evaluation and follow-up of children should be done in personalized approach.

Modified endoscopic strip craniectomy technique for sagittal craniosynostosis: provides comparable results and avoids bony defects.

PURPOSE: This study describes a modified technique addressing bony defects and incomplete ossification after endoscopic strip craniectomy (ESC) for SC followed by postoperative helmet therapy (PHT). The study aims to delineate quantitative and qualitative outcomes of this modified ESC technique followed by PHT and discern the optimal duration of PHT following ESC. A secondary aim is to address the effects of the technique on bony defects. METHODS: Patients undergoing ESC followed by PHT between 2017 and 2021 were included. Patient sex, age at surgery, duration of surgery, red blood cell transfusion, length of hospital stay, PHT duration, cephalic index (CI) at multiple time points, and bony defect information were collected. Descriptive and correlative analysis was done. RESULTS: Thirty-one patients (25 male, 6 female) were operated in study period. Mean age at surgery was 12.81 weeks, mean duration of surgery was 57.50 min, average transfused RBC volume was 32 cc, mean length of hospital stay was 1.84 days, mean PHT duration was 33.16 weeks, and mean follow-up time was 63.42 weeks. Mean preoperative CI was 70.6, and mean CI at the end of PHT was significantly higher, being 77.1. Maximum improvement in CI (CImax) took place at week 22.97. PHT duration did not have a correlation with CI at last follow up. There were no bony defects. CONCLUSION: Modified ESC technique is effective in successful correction of sagittal craniosynostosis. CImax already takes place, while PHT is continuing, but there is no certain time point for dishelmeting. The technique avoided bony defects and incomplete ossification.

Atypical Teratoid Rhabdoid Tumor in a Newborn: Can IVF Be a Risk Factor?

BackgroundIn recent years, with the widespread use of assisted reproductive technologies, questions have arisen regarding the possible relationship between these infertile parents with assisted conception procedures and childhood cancers. Case report: We present a 23-day-old newborn conceived by in vitro fertilization (IVF) with a 53 × 46 × 38 mm intracranial mass detected by magnetic resonance imaging on the 15th postnatal day. The mass, removed on 23rd postnatal day, was an Atypical Teratoid Rhabdoid Tumor (ATRT), WHO grade 4. Conclusions: As far as we know, this is the only neonatally detected ATRT. Further studies are needed to investigate whether there is a causal relationship between IVF and childhood cancers.

Penetrating Craniocerebral Injury by the Hook of a School Desk.

INTRODUCTION: Although penetrating cranial injuries are rare in pediatric patients, these injuries can lead to morbidity and mortality. Removal of a gigantic foreign body from the cranium requires proper management as it has high risk of further brain damage and seizures. CASE PRESENTATION: We report the case of a patient with cranial injury caused by hitting the head to the hook of a school desk. Due to the extreme nature of the injury, the following additional steps were necessary: taking help from a local firefighter team to cut the desk, surgical removal of the foreign body, and cranioplasty after 6 months. Following this, he was discharged without neurological deficits. DISCUSSION/CONCLUSION: Neurotrauma is one of the major causes of death in children. The damage and effect of the injuring foreign body depends on its size, shape, velocity, trajectory, and entry point. It should be kept in mind that any high-frequency processes applied on the extracranial parts of conductive objects, such as metal bars, may trigger seizures. Preoperative extracranial intervention for huge penetrating foreign bodies should be performed under anticonvulsant administration and intubation to decrease the risk of epileptic seizures and its complications.

A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age.

Raine Syndrome (RS) is caused by biallelic loss-of-function mutations in FAM20C gene and characterized by hypophosphatemia, typical facial and skeletal features. Subperiosteal bone formation and generalized osteosclerosis are the most common radiological findings. Here we present a new case with RS. A 9-month-old male patient on a home-type ventilator was referred for hypophosphatemia. He was born with a weight of 3800 g to non-consanguineous parents. Prenatal ultrasound had demonstrated nasal bone agenesis. A large anterior fontanel, frontal bossing, exophthalmos, hypoplastic nose, high arched palate, low set ears, triangular mouth, and corneal opacification were detected on physical examination. Serial skeletal X-rays revealed diffuse osteosclerosis at birth which was gradually decreased by the age of 5 months with subperiosteal undermineralized bone formation and medullary space of long bone could be distinguishable with bone-within-a-bone appearance. At 9 months of age, hand X-ray revealed cupping of the ulna with loose radial bone margin with minimal fraying and osteopenia. Cranial computed tomography scan showed bilateral periventricular calcification and hydrocephalus in progress. The clinical, laboratory, and radiological examinations were consistent with RS. Molecular analyses revealed a compound heterozygous mutation in FAM20C gene (a known pathogenic mutation, c.1645C > T, p.Arg549Trp; and a novel c.863 + 5 G > C variant). The patient died due to respiratory failure at 17 months of age. This case allowed us to demonstrate natural progression of skeletal features in RS. Furthermore, we have described a novel FAM20C variant causing RS. Previous literature on RS is also reviewed.

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. However, this malady may develop even in the absence of SAH but secondary to direct obstruction by a giant aneurysm. This situation is extremely rare in children, with only a few known case reports in the literature. CASE REPORT: We report the case of a 10-year-old girl who presented with signs and symptoms of acute hydrocephalus; further radiological evaluation revealed obstructive hydrocephalus and a giant posterior cerebral artery aneurysm. Following endovascular treatment of the aneurysm, hydrocephalus was completely resolved, and the patient was symptom free. CONCLUSION: Although they are very rare, giant intracranial aneurysms must be kept in mind during the differential diagnosis of pediatric acute hydrocephalus cases. Hydrocephalus may resolve spontaneously after the successful treatment of these aneurysms.

Ventriculoperitoneal shunt infections and re-infections in children: a multicentre retrospective study.

PURPOSE: Ventriculoperitoneal shunt (VPS) is the most common treatment modality for hydrocephalus. However, VPS infection is a common and serious complication with high rates of mortality and morbidity. The objective of this study was to investigate causative agents and the management of VPS infections and to identify risk factors for re-infection in children. MATERIALS AND METHODS: Retrospective, multicentre study on patients with VPS infection at paediatric and neurosurgery departments in four tertiary medical centres in Turkey between January 2011 and September 2014. RESULTS: A total of 290 patients with VPS infections were identified during the study period. The aetiology of hydrocephalus was congenital malformations in 190 patients (65.5%). The most common symptom of shunt infection was fever in 108 (37.2%) cases. At least one pathogen was identified in 148 VPS infections (51%). The most commonly isolated pathogen was coagulase-negative staphylococci, which grew in 63 cases (42.5%), followed by Pseudomonas aeruginosa in 22 cases (14.9%), Klebsiella pneumoniae in 15 cases (10.1%), and Staphylococcus aureus in 15 cases (10.1). The median duration of VPS infection was 2 months (range, 15 days to 60 months) after insertion of the shunt, with half (49.8%) occurring during the first month. VPS infection was treated by antibiotics and shunt removal in 211 cases (76.4%) and antibiotics alone without shunt removal in 65 patients (23.5%). Among the risk factors, CSF protein level greater than 100 mg/dL prior to VPS insertion was associated with a potential risk of re-infection (OR, 1.65; p =.01). CONCLUSION: High protein levels (>100 mg/dL) before the re-insertion of a VPS may be a risk factor for VPS re-infection.

Somatosensory evoked potentials as a screening tool for diagnosis of spinal pathologies in children with treatment refractory overactive bladder.

PURPOSE: To evaluate the usefulness of somatosensory evoked potential as a screening tool for spinal pathologies in patients with treatment refractory overactive bladder. METHODS: This prospective study was performed between January 2011 and January 2014. Children >5 years old with treatment refractory overactive bladder were enrolled after exclusion of anatomical and neurological causes of incontinence. All patients underwent urodynamic studies, spinal MRI, and somatosensory evoked potential (SEP). Sensitivity, specificity, PPV, and NPV were calculated for SEP. RESULTS: Thirty-one children (average age 8.3 ± 2.9 years) were included in the study. SEP was abnormal in 13 (41.9%), and MRI was abnormal in 8 (25.8%) patients. SEP was found to have a sensitivity of 87.5%, a specificity of 73.9%, positive predictive value of 53.85%, and negative predictive value (NPV) of 94.4%. CONCLUSION: In patients with treatment refractory OAB, SEP is an important tool for the screening of tethered cord/spinal pathologies. Our results suggest that a child with a normal SEP study in this group of patients may not require further investigation with 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. 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.

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. METHODS: We identified a neural tube defect family in eastern Turkey, where two of six offspring had operations due to thoracolumbar meningomyelocele. The parents were of a consanguineous marriage. We collected venous blood from six offspring of the family. Whole genome linkage analysis was performed in all offspring. RESULTS: A theoretical maximum logarithm of an odds score of 3.16 was identified on chromosome 9q21.12-21.31. This result shows a strong genetic linkage to this locus. CONCLUSIONS: Our results identified a novel chromosomal locus related to meningomyelocele and provide a base for further investigations toward the discovery of a new causative gene.

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.628 2 T > G mutation of the PANK2 gene. A 10-year-old boy with PKAN disease presented with dystonic storm and was admitted to the emergency department. Examination revealed generalized dystonia and impaired breathing due to involvement of the respiratory muscles. The patient underwent surgery for bilateral globus pallidus internus deep brain stimulation. The patient showed marked response to treatment.

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. METHODS: A male baby was born at 40 weeks of gestation and was referred to the neurosurgery clinic with a diagnosis of accessory lower limb. On physical examination, the dorsal meningocele was located at the lumbosacral region and there was accessory lower limb on it. There was no open neural placode. RESULTS: The accessory limb was excised on postnatal day 3. CONCLUSIONS: Dysraphic appendages are rare and complicated anomalies. They should be investigated carefully, and all of the lesions must be repaired for babies' quality of life.

Deep Learning-Assisted Segmentation and Classification of Brain Tumor Types on Magnetic Resonance and Surgical Microscope Images.

OBJECTIVE: The primary aim of this research was to harness the capabilities of deep learning to enhance neurosurgical procedures, focusing on accurate tumor boundary delineation and classification. Through advanced diagnostic tools, we aimed to offer surgeons a more insightful perspective during surgeries, improving surgical outcomes and patient care. METHODS: The study deployed the Mask R-convolutional neural network (CNN) architecture, leveraging its sophisticated features to process and analyze data from surgical microscope videos and preoperative magnetic resonance images. Resnet101 and Resnet50 backbone networks are used in the Mask R-CNN method, and experimental results are given. We subsequently tested its performance across various metrics, such as accuracy, precision, recall, dice coefficient (DICE), and Jaccard index. Deep learning models were trained from magnetic resonance imaging and surgical microscope images, and the classification result obtained for each patient was combined with the weighted average. RESULTS: The algorithm exhibited remarkable capabilities in distinguishing among meningiomas, metastases, and high-grade glial tumors. Specifically, for the Mask R-CNN Resnet 101 architecture, precision, recall, DICE, and Jaccard index values were recorded as 96%, 93%, 91%, and 84%, respectively. Conversely, for the Mask R-CNN Resnet 50 architecture, these values stood at 94%, 89%, 89%, and 82%. Additionally, the model achieved an impressive DICE score range of 94%-95% and an accuracy of 98% in pathology estimation. CONCLUSIONS: As illustrated in our study, the confluence of deep learning with neurosurgical procedures marks a transformative phase in medical science. The results are promising but underscore diverse data sets' significance for training and refining these deep learning models.

A 4-Year-Old Child with a Giant Cerebral Hydatid Cyst: A Case Report.

Echinococcosis is the most common cestode infection globally caused by the Echinococcus species. The most common organ involvement is the lungs and liver, but other organs can be rarely involved. Here, we present a case with a giant cerebral hydatid cyst. A 4-year-old boy presented with abnormal gait and walking at Marmara University School of Medicine Pendik Training and Research Hospital, Istanbul, Türkiye in September 2022. Cranial magnetic resonance imaging showed a cyst of 13 cm in diameter. The cyst was enucleated successfully with no rupture. Oral albendazole therapy was started. There was no eosinophilia, and the echinococcal indirect hemagglutination test was negative. Ultrasonography detected an anechoic cystic lesion in the liver. He was evaluated for deep-organ involvement; however, no cysts were detected in other organs. The histopathological examination was compatible with a hydatid cyst. Although intracranial hydatid disease in children is rare, it should be considered among the differential diagnoses in patients with neurological symptoms, especially in endemic regions.

Challenging Treatment of Disseminated Aspergillosis in a Child With Nephrotic Syndrome.

INTRODUCTION: Central nervous system (CNS) aspergillosis is an opportunistic infection with an increasing incidence and a high mortality rate. It is seen in immunocompromised patients as well as in immunocompetent patients. Here, we present disseminated aspergillosis in a child with nephrotic syndrome treated with long-term and aggressive systemic antifungal treatment and intraventricular (IVent) liposomal amphotericin B (L-AmB) as well as surgical excision and drainage due to difficulty in management. CASE REPORT: A 10-year-old boy with nephrotic syndrome on steroid therapy was admitted with limping and weakness. The cranial magnetic resonance imaging showed multiple intraparenchymal scattered abscesses. The largest one was excised and drained. Abscess culture revealed Aspergillus fumigatus and histopathological examination revealed septate hyphae compatible with Aspergillosis. Intravenous (IV) voriconazole was started, and IV L-AmB was added. The size of lesions and perilesional edema continued to increase, and then IVent L-AmB was added. With IVent and systemic antifungal treatment, regression of the lesions was observed. He was followed up with oral voriconazole and weekly IVent L-AmB. After 2 and a half months, he was re-operated because of increased lesion size, number and perilesional edema, and IV voriconazole and other salvage antifungal therapies were started. Since the lesions had decreased and remained stable, IV voriconazole was switched to oral therapy, and he was followed up as an outpatient. Immunodeficiency diseases were excluded by immunological and genetic tests. CONCLUSION: Management of central nervous system aspergillosis can be challenging despite long-term and aggressive systemic and IVent antifungal treatment as well as surgical excision and drainage.

Cerebral Erdheim-Chester disease mimicking high-grade glial tumor: a case report.

Erdheim-Chester disease (ECD) is a non-Langerhans histiocytosis. It may present in every organ in the body, but isolated central nervous system involvement, especially a supratentorial intra-axial location, is extremely rare. We present a case of ECD of supratentorial intra-axial origin and discuss the clinical presentation, diagnosis and management strategies.

A very rare cause of neck pain: primary Ewing sarcoma of the axis.

We report the case of a 7-year-old boy who presented with a 1-month history of neck pain, left-sided torticollis, and no neurological deficit. Computed tomography and magnetic resonance imaging revealed an expansile lesion in the axis, with epidural and prevertebral soft tissue components. Histopathologic examination of the biopsy specimen revealed primary vertebral Ewing sarcoma. This is the first case of primary vertebral Ewing sarcoma that has presented with torticollis. It is essential for physicians to be familiar with this condition and the associated imaging findings because early diagnosis of such cases is the key to better prognosis.

Langerhans cell histiocytosis located in the spheno-orbital bone and the pons: illustrative case.

BACKGROUND: This is a case of aggressive Langerhans cell histiocytosis (LCH) with an atypical intracranial location. OBSERVATIONS: In this report, the authors present the diagnosis and treatment of a 12-year-old male patient diagnosed with LCH. The patient was admitted to the emergency department with left-sided facial palsy, and a solid lesion with mass effect in the pons was found. A biopsy was performed via suboccipital craniotomy, and the diagnosis was LCH. A chemotherapy regimen was started since the LCH sample was the resistant type. The patient showed improvement in his neurological deficit following treatment. LESSONS: This rare localized and aggressive case's diagnosis process and treatment choices may apply to future cases.

Pentoxifylline and Vitamin E Can Restrict Radiation Necrosis via Vascular Pathways, Experimental Study in an Animal Model.

OBJECTIVE: Radiation necrosis (RN) is a long-term side effect of Gamma Knife stereotactic radiosurgery that may require surgical intervention. Pentoxifylline and vitamin E have previously been shown to be effective in the treatment of RN in the published literature, but there are no data on the prophylactic use of these molecules or, more importantly, whether prophylaxis is required. METHODS: The iatrogenic RN model included 50 Sprague-Dawley rats of both sexes. There were 7 treatment subgroups established. Gamma-Plan 8.32 was used to plan after magnetic resonance scans were performed in a specially designed frame. The injection doses used in the treatment groups were vitamin E (30 mg/kg/day in a single dose) and pentoxifylline (50 mg/kg/day in 2 doses). Control magnetic resonance scans were performed at the end of a 16-week treatment, and the subjects were decapitated for pathological evaluations. RESULTS: The intensity of hypoxia - inducible factor 1α immunoreactivity is statistically significantly lower in the therapeutic vitamin E, prophylactic pentoxifylline and vitamin E, and therapeutic pentoxifylline and vitamin E groups than in the other groups. Similarly, the intensity of vascular endothelial growth factor immunoreactivity was reduced in the therapeutic vitamin E and prophylactic pentoxifylline and vitamin E treatment modality groups. When compared with other groups, the therapeutic pentoxifylline group had significantly fewer vascular endothelial growth factor-immunoreactive cells in the perinecrotic area, with an accompanying decreased contrast enhancement pattern. CONCLUSIONS: Both vitamin E and pentoxifylline are effective for the treatment and/or restriction of RN, either alone or in combination. The use of these molecules as a preventive measure did not outperform the therapeutic treatment.