Multiple ectopic germinomas presenting as focal dystonia of fingers: a case report and literature review.

BACKGROUND: Intracranial primary germinomas predominantly develop on or near the midline structure in children and young adults and are diagnosed by brain imaging and biopsy. However, if brain imaging and pathology show unusual findings, it becomes difficult to make an accurate diagnosis. CASE REPORT: Herein, we report the case of a 14-year-old boy who presented with focal dystonia of the fingers as an initial symptom. Magnetic resonance imaging of the brain showed multifocal heterogeneous lesions with solid and cystic components involving the right frontal lobe, corpus callosum, left basal ganglia, and left corona radiata. A stereotactic biopsy of the right frontal lesion revealed several granulomatous areas with abundant inflammatory cells. After immunohistochemical staining, the patient was diagnosed with germinoma and treated with chemoradiotherapy according to the Korean Society for Pediatric Neuro-Oncology protocol. The patient has been in complete remission for five years. CONCLUSION: Germinomas can develop in intracranial off-midline structures, with unusual clinical, radiological, and pathological presentations. It is important to include intracranial germinomas in the differential diagnosis of infiltrative parenchymal tumors, especially in children.

Extreme field confinement in zigzag plasmonic crystals.

We propose extreme field confinement in a zigzag plasmonic crystal that can produce a wide plasmonic bandgap near the visible frequency range. By applying a periodic zigzag structure to a metal-insulator-metal plasmonic waveguide, the lowest three plasmonic crystal bands are flattened, creating a high-quality broadband plasmonic mirror over a wavelength range of 526-909 nm. Utilizing zigzag plasmonic crystals in a three-dimensional tapered metal-insulator-metal plasmonic cavity, extreme field confinement with a modal volume of less than 0.00005 λ 3 can be achieved even at resonances over a wide frequency range. In addition, by selecting the number of zigzag periods in the plasmonic crystal, critical coupling between the cavity and the waveguide can be achieved, thereby maximizing the field intensity with an enhancement factor of 105 or more. We believe that zigzag plasmonic crystals will provide a powerful platform for implementing broadband on-chip plasmonic devices.

Epilepsy caused by an unrecognized pencil lead misdiagnosed as intracerebral cavernous malformation.

Transorbital penetrating injury is relatively uncommon following head trauma, and delayed onset of neurological complications due to retained intracerebral foreign bodies has rarely been reported. We describe the first child case of late-onset epilepsy caused by an accidental transorbital penetrating injury, resulting in a retained pencil lead fragment that was mistaken for cavernous malformation. A 14-year-old girl presented with abrupt onset of nocturnal bilateral tonic seizures. The patient was previously healthy and denied any head trauma. The seizures were not well controlled by antiepileptic drugs. Right frontal lobe epilepsy due to a cavernous malformation was suspected on the basis of brain magnetic resonance imaging and electroencephalography findings. A planned operation unexpectedly revealed the intracerebral pencil lead. This foreign body had gone undetected for 11 years following a minor transorbital penetrating injury. The patient remained seizure-free during the 1-year post-operative follow-up period. Head trauma by a pencil can cause transorbital penetrating injury in children. It is difficult to detect retained small foreign body fragments and the clinical presentation can be delayed. It may be mistakenly diagnosed as other pathologies, especially when patients deny any history of head trauma.

The first Korean case report with scaphocephaly as the initial sign of X-linked hypophosphatemic rickets.

INTRODUCTION: X-linked hypophosphatemic rickets (XLH) can occasionally cause premature fusion of cranial sutures through an increased level of fibroblast growth factor 23 (FGF-23), which leads to the dysregulation of phosphate and vitamin D metabolism. Secondary craniosynostosis has long been considered to present late after XLH has already been diagnosed either clinically or genetically. CASE PRESENTATION: We present observations of a male infant showing sagittal synostosis as the first sign of XLH. Our patient did not show any other skeletal deformities except macrocephaly with a long head shape. There is a family history of genetically unconfirmed hypophosphatemic rickets in his mother. Direct sequencing by genomic polymerase chain reaction revealed that the patient has a large deletion comprising exons 1-3 of the phosphate regulating endopeptidase homolog X-linked (PHEX) gene. CONCLUSION: Our observations suggest that craniosynostosis secondary to rickets can develop in early infancy. Careful monitoring of head shape and growth is therefore critical for early detection of craniosynostosis in XLH.

Mechanical-chemical analyses and sub-chronic systemic toxicity of chemical treated organic bovine bone.

Sequentially chemical-treated bovine bone was not only evaluated by mechanical and chemical analyses but also implanted into the gluteal muscles of rats for 12 weeks to investigate potential local pathological effects and systemic toxicities. The test (chemical treated bone) and control (heat treated bone) materials were compared using scanning electron microscope (SEM), x-ray diffraction pattern, inductively coupled plasma analysis, and bending strength test. In the SEM images, the micro-porous structure of heat-treated bone was changed to sintered ceramic-like structure. The structure of bone mineral from test and control materials was analyzed as100% hydroxyapatite. The ratio of calcium (Ca) to potassium (P), the main inorganic elements, was same even though the Ca and P percentages of the control material was relatively higher than the test material. No death or critical symptoms arose from implantation of the test (chemical treated bone) and control (physiological saline) materials during 12 weeks. The implanted sites were macroscopically examined, with all the groups showing non-irritant results. Our results indicate that chemical processed bovine bone has a better mechanical property than the heat treated bone and the implantation of this material does not produce systemic or pathological toxicity.

Microsurgical treatment of distal middle cerebral artery aneurysm: A single-center review.

OBJECTIVE: To review the characteristics of distal middle cerebral artery (MCA) aneurysm treated by microsurgery, the detailed surgical options, and the clinical result. METHODS: We retrospectively reviewed cerebral aneurysm in the M2 and M3 segments of the MCA surgically treated between January 2015 and December 2022. The demographic data, aneurysm-related findings, type of surgical approach, surgical technique, and clinical outcomes of the enrolled patients were analyzed. RESULTS: Sixteen distal MCA aneurysms were treated with microneurosurgery (incidence, 1.0%; female, 12; mean age, 58.1 years; ruptured, three). Twelve aneurysms were in the M2 segment (insular segment), two aneurysms at the M2-M3 junction, and two aneurysms in the M3 segment (opercular segment). Twelve aneurysms were saccular (average size, 4.9 mm; multiplicity, 50%; average aneurysms, 3.0; partially thrombosed, 1; sidewall aneurysm, 2). Three aneurysms were fusiform, of which two were ruptured. Of the ruptured aneurysms, one was a ruptured dissecting aneurysm. The trans-sylvian and trans-sulcal approaches were used in fourteen and two patients, respectively. Neck clipping, wrap clipping, and surgical trapping were performed in twelve, one, and one patient, respectively. Proximal occlusion was performed in one patient. Bypass technique was required in two patients (neck clipping and proximal occlusion). The modified Rankin Score was 6 in the two patients with ruptured aneurysms. The remaining patients did not show further neurological deterioration after microneurosurgery. CONCLUSIONS: Distal MCA aneurysms had a high incidence of being diagnosed with multiple other aneurysms and were relatively non-saccular.

Efficacy of single dose of phenytoin/fosphenytoin in benign convulsions with mild gastroenteritis.

BACKGROUND: This study evaluated the efficacy of a single dose of phenytoin/fosphenytoin (PHT) to control repetitive seizures in children with benign convulsions with mild gastroenteritis (CwG). METHODS: Children aged between 3 months and 5 years with CwG were retrospectively enrolled. Convulsions with mild gastroenteritis were defined as (a) seizures with acute gastroenteritis without fever or dehydration; (b) normal blood laboratory results; and (c) normal electroencephalography and brain imaging findings. Patients were divided into two groups according to whether or not intravenous PHT (10 mg/kg of phenytoin or phenytoin equivalents) was administered. Clinical manifestations and treatment efficacy were evaluated and compared. RESULTS: Ten of 41 children eligible for inclusion received PHT. Compared to children in the non-PHT group, those in the PHT group had a higher number of seizures (5.2 ± 2.3 vs. 1.6 ± 1.0, P < 0.001) and a lower serum sodium level (133.5 ± 3.2 mmol/L vs. 137.2 ± 2.6 mmol/L, P = 0.001). Initial serum sodium levels were negatively correlated with seizure frequency (r = -0.438, P = 0.004). In all patients, seizures were completely resolved with a single dose of PHT. There were no significant adverse effects from PHT. CONCLUSIONS: A single dose of PHT can effectively treat CwG with repetitive seizures. The serum sodium channel may play a role in seizure severity.

O6-methylguanine-DNA-methyltransferase promoter methylation assessment by microdissection-assisted methylation-specific PCR and high resolution melting analysis in patients with glioblastomas.

We have determined O(6)-methylguanine-DNA-methyltransferase (MGMT) promoter methylation status by methylation-specific polymerase chain reaction (MSP) in 22 paraffin-embedded specimens of glioblastoma multiforme. A MGMT methylation-specific high resolution melting (HRM) assay was performed to compare the methylation levels of the tumorous and non-tumorous portions of each sample, which were selectively collected using a microdissection technique. MGMT methylation was detected in 10 patients using MSP, while 8 patients had both methylated and unmethylated MGMT promoters. HRM assays showed that there was no difference in the level of methylation between tumorous and non-tumorous portions of each sample. In patients with MSP-positive tumors, the overall survival (median, 22 months) was longer as compared to those with MSP-negative tumors (median, 14 months). A correlation between the methylation status of the MGMT promoter and MGMT protein expression was observed in 12 samples. This study demonstrates that MGMT methylation is not restricted to glioblastoma cells. Additionally, methylation-specific HRM is a feasible approach that can be readily applied to the methylation analysis of MGMT. A further study will be needed to determine the dynamic change of MGMT methylation in the tumor environment.

Delayed Multiple Intracerebral Hemorrhage After Burr Hole Drainage of Chronic Subdural Hematoma During Failure of Warfarin Resumption in Atrial Fibrillation.

Many elderly people take warfarin due to underlying disease. Warfarin is a risk factor for developing chronic subdural hematomas and other intracranial hematomas. Our patient was on chronic warfarin treatment for longstanding atrial fibrillation and underwent burr hole trephination due to chronic subdural hematoma. Multiple intracerebral hemorrhages developed 7 days after surgery without resumption of warfarin. Here, we report and review this rare case.

A Novel Frameshift CASK Variant in a 6-Month-Old Korean Female Infant with Global Developmental Delay, Progressive Microcephaly, and Pontocerebellar Hypoplasia: A Case Report.

Pontocerebellar hypoplasia is a heterogeneous group of rare genetic neurodevelopmental disorders marked by early degeneration of the cerebellum and brainstem. Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia (MICPCH; MIM#300749) is a disorder caused by pathogenic loss-of-function variants in CASK CASK gene plays a critical role in brain development by controlling neuronal development and synapse formation. This report describes a 6-month-old Korean female infant with global developmental delay, sensorineural hearing loss, axial hypotonia with hypertonia of extremities, progressive microcephaly, and pontocerebellar hypoplasia. On whole exome sequencing, the patient had a novel heterozygous frameshift CASK variant, NM_003688.3:c.535del (NP_003679.2:p. Arg179Valfs*22). This report highlights the importance of considering CASK pathogenic variants in patients with global developmental delay, progressive microcephaly, and pontocerebellar hypoplasia and the genotype-phenotype relationships.

Cerebral Venous Thrombosis Caused by Spontaneous Intracranial Hypotension: A Case Report.

This case report presents a rare case of cerebral venous thrombosis (CVT) caused by spontaneous intracranial hypotension (SIH). The cause and prognosis of CVT can vary; CVT caused by SIH is uncommon and difficult to diagnose and treat. In this case, magnetic resonance imaging myelography showed definite cerebrospinal fluid leakage, and the patient's symptoms did not improve after conventional treatment. Furthermore, subdural hematoma occurred, causing mental deterioration; however, it improved dramatically after the blood patch procedure and burr hole drainage, which was performed after early cessation of anticoagulant therapy.

Compressive mechanical force augments osteoclastogenesis by bone marrow macrophages through activation of c-Fms-mediated signaling.

Little is known about the effects of mechanical forces on osteoclastogenesis by bone marrow macrophages (BMMs) in the absence of mechanosensitive cells, including osteoblasts and fibroblasts. In this study, we examined the effects of mechanical force on osteoclastogenesis by applying centrifugal force to BMMs using a horizontal microplate rotor. Our findings, as measured by an in vitro model system, show that tumor necrosis factor (TNF)-α is capable of inducing osteoclast differentiation from BMMs and bone resorption in the presence of macrophage-colony stimulating factor (M-CSF) and is further facilitated by receptor activator of nuclear factor-kappaB (NF-κB) ligand (RANKL). Application of force to BMMs accelerated TNF-α-induced osteoclastogenesis; this was inhibited either by anti-TNF-α or anti-TNF-α receptor but not by OPG. TNF-α also increased c-Fms expression at both mRNA and protein levels in BMMs. An anti-c-Fms antibody completely inhibited osteoclast differentiation and bone resorption induced by TNF-α but partially blocked osteoclastogenesis stimulated in combination with RANKL. These results suggest that TNF-α (in the presence of M-CSF) is capable of inducing osteoclastogenesis from BMMs, and that osteoclastogenesis is significantly stimulated by force application through the activation of c-Fms-mediated signaling. Overall, the present study reveals the facilitating effect of mechanical force on osteoclastic differentiation from BMMs without the addition of mechanosensitive cells.

Acute Encephalopathy With Biphasic Seizures and Late Reduced Diffusion Associated With Adenoviral Pneumonia.

Acute encephalopathy with biphasic seizures and late reduced diffusion is a subtype of acute encephalopathy described in a cohort of Japanese children. Few cases have been reported in countries other than Japan. It is characterized clinically by biphasic seizures and late reduced subcortical diffusion on magnetic resonance imaging (MRI). We report the case of a 3-year-old Korean girl with acute encephalopathy with biphasic seizures and late reduced diffusion who presented with status epilepticus associated with fever and pneumonia. Human adenovirus was detected from a respiratory specimen using multiplex real-time reverse transcriptase polymerase chain reaction. After 5 days, she developed a second cluster of seizures followed by altered consciousness, aphasia, stereotypic movement, and developmental regression. Her brain MRI showed symmetrical and extensive restricted diffusion in the subcortical white matter, which finally resulted in global brain atrophy, consistent with acute encephalopathy with biphasic seizures and late reduced diffusion. Here, we report a case of acute encephalopathy with biphasic seizures and late reduced diffusion associated with preceding adenoviral pneumonia.

Cervicothoracic Junction Approach using Modified Anterior Approach: J-type Manubriotomy and Low Cervical Incision.

Spinal surgery of the anterior aspect of the cervicothoracic junction is difficult and has technological challenges because of the kyphotic alignment of the upper thoracic spine. This approach requires knowledge of the cervicothoracic regional anatomy. Surgery in this region is rare because of its indications; despite this rarity, surgeons must be prepared to expose this region. In addition, surgery in this region demands extensive opening of the surgical field and results in severe postoperative pain. Therefore, a less invasive procedure must be considered. Six cases of cervicothoracic lesion operation have been reported. The patients were successfully treated using an anterior modified approach (J-type manubriotomy). Anterior reconstruction and instrumentation of the cervicothoracic junction offers a distinct advantage of a stable anterior implant bone construction while preserving the posterior osseo-ligamentous tension band. Moreover, the modified anterior approach (J-type manubriotomy) provides the same exposure of the cervicothoracic junction without a full median sternotomy and avoids injury to subclavian vessels during resection of the clavicle or sternoclavicular junction. Therefore, the anterior cervical approach combined with J-type manubriotomy allows extensive exposure of the cervicothoracic junction and causes less complications. We performed preoperative radiological evaluation to identify the cases in which J-type manubriotomy was necessary.

Burr Hole Drainage versus Small Craniotomy of Chronic Subdural Hematomas.

OBJECTIVE: Chronic subdural hematoma drainage is one of the most common procedures performed in neurosurgical practice. Not only burr hole drainage but also small craniotomy (diameter 3-5 cm) is frequently used neurosurgical treatment of chronic subdural hematomas. We assessed to compare the postoperative recurrence rates between burr hole drainage versus small craniotomy with closed-system drainage for chronic subdural hematomas. METHODS: From January 2016 to December 2018, 75 patients who were treated with burr hole drainage and small craniotomy with closed system drainage for the symptomatic chronic subdural hematoma were enrolled. Pre and postoperative computed tomography (CT) were used for radiologic evaluation. The choice of procedure was decided by preoperative CT images. RESULTS: 60 patients out of 75 patients underwent burr hole drainage, whereas 15 patients underwent small craniotomy. The overall postoperative recurrence rate was 16%. The recurrence occurred in 8 patients out of 60 patients in burr hole drainage group (13.3%) and 7 patients out of 15 patients in small craniotomy group (46.7%). The number of days of hospitalization was 10.3 days in burr hole drainage group and 15.7 days in small craniotomy group. CONCLUSION: Burr hole drainage would be sufficient to evacuate chronic subdural hematoma with lower recurrence rate, but small craniotomy was also needed in some cases such as hematoma has solid portion or multiple septum.

Trigeminal Neuralgia Resulting from Delayed Cervical Cord Compression after Acute Traumatic Fracture of Odontoid Process.

Trigeminal neuralgia is caused by compression of trigeminal nerve root and it leads to demyelination gradually. It was almost idiopathic and occurred unexpected. The upper cervical spinal cord contains the spinal trigeminal tract and nucleus. Fibers with cell bodies in the trigeminal ganglion enter in the upper pons and descend caudally to C2 level. We experienced a rare patient with facial pain, which was paroxysmal attack with severe pain after a clear event, cervical spinal injury (C2). So, this case reminds us of a possible cause of trigeminal neuralgia after a trauma of the head and neck.

Clinical Findings and Neurologic Outcome in Neonatal Encephalopathy With White Matter Injury Accompanied by Rotavirus.

Our objective was to elucidate the clinical characteristics and neurodevelopmental outcomes in neonatal encephalopathy with characteristic white matter injury as compared with other injury patterns on magnetic resonance diffusion-weighted imaging. We conducted a retrospective study comparing clinical and laboratory findings, and neurologic outcomes between 17 newborns with diffuse lesions in the periventricular white matter and white matter tract (group I) and 22 newborns with other patterns (group II). Stool samples indicated that 16 neonates (94.1%) in group I were rotavirus-positive, whereas none in group II had rotavirus infection. Significantly lower calcium levels were found in group I than in group II ( P < .001). Moreover, a more favorable neurodevelopmental outcome was observed in group I than in group II. This study suggests that characteristic white matter injury in neonatal encephalopathy may be related to decreased calcium levels induced by rotavirus, and may have a better neurodevelopmental prognosis than other causes.

Epstein-Barr virus-infected Akata cells are sensitive to histone deacetylase inhibitor TSA-provoked apoptosis.

Epstein-Barr virus (EBV) infects more than 90 % of the world's population and has a potential oncogenic nature. A histone deacetylase (HDAC) inhibitor, trichostatin A (TSA), has shown potential ability in cancer chemoprevention and treatment, but its effect on EBV-infected Akata cells has not been examined. This study investigated the effect of TSA on the proliferation and apoptosis of the cells. TSA inhibited cell growth and induced cytotoxicity in the EBV-infected Akata cells. TSA treatment sensitively induced apoptosis in the cell, which was demonstrated by the increased number of positively stained cells in the TUNEL assay, the migration of many cells to the sub-G0/G1 phase in flow cytometric analysis, and the ladder formation of genomic DNA. Western blot analysis showed that caspase-dependent pathways are involved in the TSA-induced apoptosis of EBV-infected Akata cells. Overall, this study shows that EBV-infected B lymphomas are quite sensitive to TSA-provoked apoptosis.

Procarbazine, CCNU, and Vincristine Chemotherapy in Gliomatosis Cerebri.

A 49-year-old female patient was admitted due to memory disturbances. Magnetic resonance (MR) imaging suggested gliomatosis cerebri (GC), which had spread to both insular lobes, both frontal and basal ganglia and the brain stem. A stereotactic biopsy was performed at the high signal intensity area of the T2-weighted MR image, and the revealed a diffuse astrocytoma. Radiation therapy was judged not to be an appropriate treatment for the patient because of her cognitive impairment. A combinatorial chemotherapy regiment consisting of Procarbazine, CCNU, and Vincristine (PCV) was agreed upon after discussion. The patient underwent six cycles of PCV chemotherapy (a full dose was applied until the 3rd cycle, and dose then was reduced to 75% for the remaining cycles). Although the patient exhibited side effects such as bone marrow suppression and gastrointestinal symptoms, these were managed by medication. Over the 28 months following initiation of treatment, the high signal area in the right frontal and temporal lobes in the T2-weighted MR image decreased, and the patient's cognitive function [global deterioration scale (GDS) 4 points, mini-mental state examination (MMSE) 25 point] also improved (GDS 1 points, MMSE 29 points). PCV chemotherapy can therefore be an alternative therapeutic option for patients with GC who cannot be treated with radiation therapy or other chemotherapies.

Acteoside suppresses RANKL-mediated osteoclastogenesis by inhibiting c-Fos induction and NF-κB pathway and attenuating ROS production.

Numerous studies have reported that inflammatory cytokines are important mediators for osteoclastogenesis, thereby causing excessive bone resorption and osteoporosis. Acteoside, the main active compound of Rehmannia glutinosa, which is used widely in traditional Oriental medicine, has anti-inflammatory and antioxidant potentials. In this study, we found that acteoside markedly inhibited osteoclast differentiation and formation from bone marrow macrophages (BMMs) and RAW264.7 macrophages stimulated by the receptor activator of nuclear factor-kappaB (NF-κB) ligand (RANKL). Acteoside pretreatment also prevented bone resorption by mature osteoclasts in a dose-dependent manner. Acteoside (10 µM) attenuated RANKL-stimulated activation of p38 kinase, extracellular signal-regulated kinases, and c-Jun N-terminal kinase, and also suppressed NF-κB activation by inhibiting phosphorylation of the p65 subunit and the inhibitor κBα. In addition, RANKL-mediated increases in the expression of c-Fos and nuclear factor of activated T-cells, cytoplasmic 1 (NFATc1) and in the production of tumor necrosis factor-α, interleukin (IL)-1ß, and IL-6 were apparently inhibited by acteoside pretreatment. Further, oral acteoside reduced ovariectomy-induced bone loss and inflammatory cytokine production to control levels. Our data suggest that acteoside inhibits osteoclast differentiation and maturation from osteoclastic precursors by suppressing RANKL-induced activation of mitogen-activated protein kinases and transcription factors such as NF-κB, c-Fos, and NFATc1. Collectively, these results suggest that acteoside may act as an anti-resorptive agent to reduce bone loss by blocking osteoclast activation.