Neurofibromatosis type 1 (NF1) is a prevalent genetic disorder characterized by a wide spectrum of clinical manifestations, including cutaneous, neurological, and oncological complications. The disease results from mutations in the NF1 gene, which encodes neurofibromin, a tumor suppressor that regulates the RAS/mitogen-activated protein kinase (MAPK) pathway. The loss of neurofibromin function predisposes individuals to both benign and malignant neoplasms, including malignant peripheral nerve sheath tumors, optic pathway gliomas, and gastrointestinal stromal tumors. Additionally, women with NF1 are at a significantly increased risk of developing breast cancer at a younger age, necessitating enhanced surveillance measures. Beyond oncological risks, NF1 is frequently associated with cognitive and behavioral impairments, including learning disabilities, attention-deficit hyperactivity disorder, and social communication difficulties, which significantly impact academic, occupational, and social outcomes. Moreover, systemic complications such as skeletal deformities, cardiovascular abnormalities, and chronic pain further contribute to the disease burden. Given the progressive and lifelong nature of NF1, comprehensive care strategies incorporating multidisciplinary management, early detection, and targeted interventions are essential to optimizing patient outcomes. This review highlights the importance of an integrative, lifelong management approach that addresses both the medical and psychosocial aspects of NF1. By implementing tailored surveillance programs and evidence-based interventions, healthcare providers can improve quality of life and reduce morbidity and mortality associated with this complex disorder.

Neurofibromatosis type 1 (NF1) is a prevalent genetic disorder characterized by a wide spectrum of clinical manifestations, including cutaneous, neurological, and oncological complications. The disease results from mutations in the NF1 gene, which encodes neurofibromin, a tumor suppressor that regulates the RAS/mitogen-activated protein kinase (MAPK) pathway. The loss of neurofibromin function predisposes individuals to both benign and malignant neoplasms, including malignant peripheral nerve sheath tumors, optic pathway gliomas, and gastrointestinal stromal tumors. Additionally, women with NF1 are at a significantly increased risk of developing breast cancer at a younger age, necessitating enhanced surveillance measures. Beyond oncological risks, NF1 is frequently associated with cognitive and behavioral impairments, including learning disabilities, attention-deficit hyperactivity disorder, and social communication difficulties, which significantly impact academic, occupational, and social outcomes. Moreover, systemic complications such as skeletal deformities, cardiovascular abnormalities, and chronic pain further contribute to the disease burden. Given the progressive and lifelong nature of NF1, comprehensive care strategies incorporating multidisciplinary management, early detection, and targeted interventions are essential to optimizing patient outcomes. This review highlights the importance of an integrative, lifelong management approach that addresses both the medical and psychosocial aspects of NF1. By implementing tailored surveillance programs and evidence-based interventions, healthcare providers can improve quality of life and reduce morbidity and mortality associated with this complex disorder.

Neurofibromatosis type 1 (NF1) is a prevalent genetic disorder characterized by a wide spectrum of clinical manifestations, including cutaneous, neurological, and oncological complications. The disease results from mutations in the NF1 gene, which encodes neurofibromin, a tumor suppressor that regulates the RAS/mitogen-activated protein kinase (MAPK) pathway. The loss of neurofibromin function predisposes individuals to both benign and malignant neoplasms, including malignant peripheral nerve sheath tumors, optic pathway gliomas, and gastrointestinal stromal tumors. Additionally, women with NF1 are at a significantly increased risk of developing breast cancer at a younger age, necessitating enhanced surveillance measures. Beyond oncological risks, NF1 is frequently associated with cognitive and behavioral impairments, including learning disabilities, attention-deficit hyperactivity disorder, and social communication difficulties, which significantly impact academic, occupational, and social outcomes. Moreover, systemic complications such as skeletal deformities, cardiovascular abnormalities, and chronic pain further contribute to the disease burden. Given the progressive and lifelong nature of NF1, comprehensive care strategies incorporating multidisciplinary management, early detection, and targeted interventions are essential to optimizing patient outcomes. This review highlights the importance of an integrative, lifelong management approach that addresses both the medical and psychosocial aspects of NF1. By implementing tailored surveillance programs and evidence-based interventions, healthcare providers can improve quality of life and reduce morbidity and mortality associated with this complex disorder.

Neurofibromatosis type 1 (NF1) is a prevalent genetic disorder characterized by a wide spectrum of clinical manifestations, including cutaneous, neurological, and oncological complications. The disease results from mutations in the NF1 gene, which encodes neurofibromin, a tumor suppressor that regulates the RAS/mitogen-activated protein kinase (MAPK) pathway. The loss of neurofibromin function predisposes individuals to both benign and malignant neoplasms, including malignant peripheral nerve sheath tumors, optic pathway gliomas, and gastrointestinal stromal tumors. Additionally, women with NF1 are at a significantly increased risk of developing breast cancer at a younger age, necessitating enhanced surveillance measures. Beyond oncological risks, NF1 is frequently associated with cognitive and behavioral impairments, including learning disabilities, attention-deficit hyperactivity disorder, and social communication difficulties, which significantly impact academic, occupational, and social outcomes. Moreover, systemic complications such as skeletal deformities, cardiovascular abnormalities, and chronic pain further contribute to the disease burden. Given the progressive and lifelong nature of NF1, comprehensive care strategies incorporating multidisciplinary management, early detection, and targeted interventions are essential to optimizing patient outcomes. This review highlights the importance of an integrative, lifelong management approach that addresses both the medical and psychosocial aspects of NF1. By implementing tailored surveillance programs and evidence-based interventions, healthcare providers can improve quality of life and reduce morbidity and mortality associated with this complex disorder.

Head injuries are the most common type of birth injuries. Among them, most of the injuries is limited to the scalp. and the prognosis is good enough to be unnoticed in some cases. Intracranial injuries caused by excessive forces during delivery are rare. However, since some of them can be fatal, it is necessary to suspect it at an early stage and evaluate thoroughly if there are abnormal findings in the patient.

Background: Diffuse midline glioma (DMG) which occurs in midline structures and characterized by harboring K27M mutation in genes encoding the histone 3 protein is classified as World Health Organization (WHO) grade IV regardless of histological findings and has a poor prognosis. Nevertheless, because of its relatively rare incidence compared with other high-grade gliomas, a comprehensive description encompassing clinical features and genomic profiles of DMG is still lacking. Methods: In this study, we analyzed data of 24 patients who were diagnosed as DMG which was confirmed by surgical specimens in both pediatric and adult patients. We described the clinical outcomes of patients with DMG and their genomic profiles through a retrospective analysis of 24 patients with DMG. Results: The clinical characteristics of the 24 patients with DMG were analyzed. Ten patients (41%) underwent tumor resection and 14 patients (59%) underwent tumor biopsy. The median overall survival was 10.4 months (95% confidence interval [CI], 8.4 to 12.5) and progression free survival was 3.9 months (95% CI, 2.6 to 5.2). Fifteen patients (62%) were accompanied by hydrocephalus. None of the patient, tumor, or treatment factors had any significant associated with survival. In both immunohistochemistry staining (n=24) and targeted next generation sequencing (n=15), TP53 mutation was the most common genetic mutation (25% and 46%, respectively) found in the patients except alterations in histone 3 protein. Conclusion Although surgical treatment of patient with DMG does not affect the overall survival prognosis, it can help improve the patient’s accompanying neurological symptoms in some limited cases. Hydrocephalus is often accompanied with DMG and treatment for hydrocephalus is often also required. Multidisciplinary therapeutic approach is needed.

Background: and Purpose Managing hydrocephalus in patients with vestibular schwannoma (VS) is controversial. We evaluated the clinical factors associated with hydrocephalus. Methods: Between 2000 and 2019, 562 patients with VS were treated at our institute. We applied endoscopic third ventriculostomy (ETV), external ventricular drainage (EVD), and ventriculoperitoneal (VP) shunts to patients with hydrocephalus. The relationships of patient, tumor, and surgical variables with the hydrocephalus outcome were assessed. Results: Preoperative hydrocephalus (Evans ratio ≥0.3) was present in 128 patients. Six patients who received a preresectional VP shunt were excluded after analyzing the hydrocephalus outcome. Seven of the remaining 122 patients had severe hydrocephalus (Evans ratio ≥0.4). Primary tumor resection, VP shunting, ETV, and EVD were performed in 60, 6, 57, and 5 patients, respectively. The hydrocephalus treatment failure rate was highest in the EVD group. Persistent hydrocephalus was present in five (8%) and seven (12%) patients in the primary resection and ETV groups, respectively. Multivariate analysis revealed that severe hydrocephalus, the cystic tumor, and the extent of resection (subtotal resection or partial resection) were associated with hydrocephalus treatment failure. Conclusions Larger ventricles and a higher cystic portion are predictive of persistent hydrocephalus. We recommend attempting near-total tumor resection in patients with VS.

Background: and Purpose Managing hydrocephalus in patients with vestibular schwannoma (VS) is controversial. We evaluated the clinical factors associated with hydrocephalus. Methods: Between 2000 and 2019, 562 patients with VS were treated at our institute. We applied endoscopic third ventriculostomy (ETV), external ventricular drainage (EVD), and ventriculoperitoneal (VP) shunts to patients with hydrocephalus. The relationships of patient, tumor, and surgical variables with the hydrocephalus outcome were assessed. Results: Preoperative hydrocephalus (Evans ratio ≥0.3) was present in 128 patients. Six patients who received a preresectional VP shunt were excluded after analyzing the hydrocephalus outcome. Seven of the remaining 122 patients had severe hydrocephalus (Evans ratio ≥0.4). Primary tumor resection, VP shunting, ETV, and EVD were performed in 60, 6, 57, and 5 patients, respectively. The hydrocephalus treatment failure rate was highest in the EVD group. Persistent hydrocephalus was present in five (8%) and seven (12%) patients in the primary resection and ETV groups, respectively. Multivariate analysis revealed that severe hydrocephalus, the cystic tumor, and the extent of resection (subtotal resection or partial resection) were associated with hydrocephalus treatment failure. Conclusions Larger ventricles and a higher cystic portion are predictive of persistent hydrocephalus. We recommend attempting near-total tumor resection in patients with VS.

BACKGROUND AND PURPOSE: This study investigated the seizure recurrence rate and potential predictors of seizure recurrence following antiepileptic drug (AED) withdrawal after resective epilepsy surgery in children with focal cortical dysplasia (FCD). METHODS: We retrospectively analyzed the records of 70 children and adolescents with FCD types I, II, and IIIa who underwent resective epilepsy surgery between 2004 and 2015 and were followed for at least 2 years after surgery. RESULTS: We attempted AED withdrawal in 40 patients. The median time of starting the AED reduction was 10.8 months after surgery. Of these 40 patients, 14 patients (35%) experienced seizure recurrence during AED reduction or after AED withdrawal. Half of the 14 patients who experienced recurrence regained seizure freedom after AED reintroduction and optimization. Compared with their preoperative status, the AED dose or number was decreased in 57.1% of patients, and remained unchanged in 14.3% after surgery. A multivariate analysis found that incomplete resection (p=0.004) and epileptic discharges on the postoperative EEG (p=0.025) were important predictors of seizure recurrence after AED withdrawal. Over the mean follow-up duration of 4.5 years after surgery, 34 patients (48.6% of the entire cohort) were seizure-free with and without AEDs. CONCLUSIONS: Children with incomplete resection and epileptic discharges on postoperative EEG are at a high risk of seizure recurrence after drug withdrawal. Complete resection of FCD may lead to a favorable surgical outcome and successful AED withdrawal after surgery.
Adolescent ; Anticonvulsants ; Child* ; Electroencephalography ; Epilepsy ; Follow-Up Studies ; Freedom ; Humans ; Malformations of Cortical Development* ; Multivariate Analysis ; Recurrence* ; Retrospective Studies ; Seizures*

A variety of complications in endoscopic third ventriculostomy have been reported, including neurovascular injury, hemodynamic alterations, endocrinologic abnormalities, electrolyte imbalances, cerebrospinal fluid leakage, fever and infection. Even though most complications are transient, the overall rate of permanent morbidity is 2.38% and the overall mortality rate is 0.28%. To avoid these serious complications, we should keep in mind potential complications and how to prevent them. Proper decisions with regard to surgical indication, choice of endoscopic entry and trajectory, careful endoscopic procedures with anatomic orientation, bleeding control and tight closure are emphasized for the prevention of complications.
Cerebrospinal Fluid Leak ; Fever ; Hemodynamics ; Hemorrhage ; Mortality ; Neuroendoscopy ; Ventriculostomy*