Fronto-Orbital Advancement and Posterior Cranial Vault Expansion Using Distraction Osteogenesis in Patients With Multiple Craniosynostosis.

ABSTRACT: This study aimed to evaluate the treatment outcomes and the efficiency of techniques of fronto-orbital advancement (FOA) and posterior cranial vault expansion (PCVE) using distraction osteogenesis in patients with multiple craniosynostosis. We assessed the treatment results and outcomes of 8 patients with multiple craniosynostosis at the Kagoshima University Hospital between 2005 and 2019. Each 4 patients underwent FOA and PCVE, respectively, using distraction osteogenesis. The cranial volume and developmental quotient (DQ) were measured at the preoperative period and 1 year after surgery. The mean patient age at surgery was 22 months. The mean preoperative cranial volume was 1027 and 1071 cm3 in the FOA and PCVE groups, respectively. The mean preoperative DQ scores were 74 and 67, respectively. After 1-year of follow-up, the corresponding mean cranial volume became 1108 and 1243 cm3, respectively. The corresponding mean DQ scores also improved to 74 and 81, respectively. The postoperative follow-ups in all cases were uneventful, except for persistent epilepsy in 1 patient. Fronto-orbital advancement and PCVE using distraction osteogenesis might contribute to good outcomes in expanding cranial volume, cosmetic osteogenesis, and infantile development in patients with multiple craniosynostosis. Regarding the cranial volume expansion, especially, PCVE using distraction osteogenesis is more effective than FOA.

A case of developing obstructive hydrocephalus following aqueductal stenosis caused by developmental venous anomalies.

Developmental venous anomalies (DVAs), previously also known as venous angiomas, are variations of normal trans-medullary veins draining from white and gray matter. DVAs are usually asymptomatic and mostly discovered incidentally on brain imaging. However, some studies have reported symptomatic cases associated with DVAs. In this report, we report an extremely rare case of a 14-month-old boy with obstructive hydrocephalus following aqueductal stenosis caused by developmental venous anomalies. At the age of 14 months, his head circumference exceeded + 2SD significantly. Brain magnetic resonance imaging (MRI) showed triventriculomegaly and dilated collector vein coursing through the Sylvian aqueduct, causing aqueductal stenosis. Endoscopic third ventriculostomy (ETV) was successfully performed. During the procedure, a dilated collector vein was confirmed obstructing the Sylvian aqueduct. Postoperative cine MRI showed good flow signal through the opening and improvement of hydrocephalus was noted. Obstructive hydrocephalus following aqueductal stenosis caused by DVAs is very rare; nonetheless, it can be considered as a causal differential diagnosis for hydrocephalus. Whether ETV should be chosen, as the technique for diversion of cerebrospinal fluid (CSF) flow, remains controversial. This case report showed that ETV was effective and safe.

Calcifying pseudoneoplasm of the neuraxis in direct continuity with a low-grade glioma: A case report and review of the literature.

Calcifying pseudoneoplasms of the neuraxis (CAPNON) are presumed to be a non-neoplastic reactive pathology, based on the frequent finding of granulomatous inflammation. To our knowledge, there are few reports of CAPNON in association with a neoplasm. Here, we report the case of a 62-year-old man presenting with headache, which was caused by CAPNON in the left cingulate gyrus. CT scan revealed a calcified mass exhibiting gradual growth and increasing peritumoral edema. MRI showed an intra-axial hypointense mass on T1- and T2-weighted images. Development of a peri-lesional hyperintense lesion on T2-weighted images suggested local edema or tumoral invasion. Gadolinium-enhanced T1-weighted images revealed mild peripheral enhancement of the calcified nodule. L-methyl-11 C methionine-positron emission tomography revealed the uptake of tracer in the calcified nodule. The calcified mass and its enveloping brain tissue were removed using a parietal craniotomy. The calcified tissue was surrounded by spindle-shaped cells positive for GFAP and nestin. The MIB-1 labeling index of spindle cells was around 10% (i.e. a hot spot). Fourteen months after surgery, gadolinium-enhanced MRI evidenced growth of a tiny residual lesion. Therefore, this report illustrates a potential case of CAPNON arising from low-grade glial neoplasm.

A Novel Bilateral Approach for Suprasellar Arachnoid Cysts: A Case Report.

The endoscopic method is used to treat suprasellar arachnoid cysts (SACs) but it is sometimes difficult to make sufficiently sized fenestrations. Creating a larger fenestration on the cyst wall is preferable to prevent closure of the stoma. In this paper, we report a novel endoscopic approach for SAC treatment in which we use bilateral burr holes to achieve a more extensive cyst fenestration. A 7-year-old girl was referred to our hospital because of incidentally detected hydrocephalus by computed tomography scans. Physical examination did not show any signs of intracranial hypertension, but a digital impression of her skull on X-ray implied chronic intracranial hypertension. Magnetic resonance imaging (MRI) revealed enlargement of both lateral ventricles and a cystic mass occupying the third ventricle. We performed cyst wall fenestration using a bilateral approach in which we created two burr holes to introduce a flexible endoscope and a rigid endoscope. The cyst wall was held by forceps with the flexible endoscope, and resection of the cyst wall was achieved by using a pair of scissors with the rigid endoscope. There were no postoperative complications, and MRI performed 1 year after treatment showed disappearance of the superior part of the cyst wall.

Attenuation of inflammatory and neuropathic pain behaviors in mice through activation of free fatty acid receptor GPR40.

BACKGROUND: The G-protein-coupled receptor 40 (GPR40) is suggested to function as a transmembrane receptor for medium- to long-chain free fatty acids and is implicated to play a role in free fatty acids-mediated enhancement of glucose-stimulated insulin secretion from pancreas. However, the functional role of GPR40 in nervous system including somatosensory pain signaling has not been fully examined yet. RESULTS: Intrathecal injection of GPR40 agonist (MEDICA16 or GW9508) dose-dependently reduced ipsilateral mechanical allodynia in CFA and SNL models and thermal hyperalgesia in carrageenan model. These anti-allodynic and anti-hyperalgesic effects were almost completely reversed by a GPR40 antagonist, GW1100. Immunohistochemical analysis revealed that GPR40 is expressed in spinal dorsal horn and dorsal root ganglion neurons, and immunoblot analysis showed that carrageenan or CFA inflammation or spinal nerve injury resulted in increased expression of GPR40 in these areas. Patch-clamp recordings from spinal cord slices exhibited that bath-application of either MEDICA16 or GW9508 significantly decreased the frequency of spontaneous excitatory postsynaptic currents in the substantia gelatinosa neurons of the three pain models. CONCLUSIONS: Our results indicate that GPR40 signaling pathway plays an important suppressive role in spinal nociceptive processing after inflammation or nerve injury, and that GPR40 agonists might serve as a new class of analgesics for treating inflammatory and neuropathic pain.

Improvement in treatment results of glioblastoma over the last three decades and beneficial factors.

BACKGROUND: The purpose of this study is to elucidate the trend of glioblastoma outcome and scrutinize the factors contributing to better outcome over three decades. METHODS: Survival time and the influencing factors were retrospectively analyzed in 223 newly diagnosed primary glioblastoma patients during 1980-2010. Appraised factors included age, sex, tumor site, year of surgery, extent of resections, use of surgery supporting system, Karnofsky Performance Status (KPS), chemotherapy, conventional external beam radiotherapy (EBRT), and CyberKnife stereotactic radiotherapy (CK-SRT) use. RESULTS: The median survival time (MST) in all patients was 13.6 months. The MSTs for 4 periods were 9.8 (1980-1990), 13.7 (1991-2000), 12.9 (2001-2005), and 15.8 months (2006-2010), respectively (p=0.0047). Total resection, subtotal resection, partial resection, and biopsy had MSTs of 31.8, 13.9, 11.4, and 7.0 months, respectively (p<0.0001). Regarding chemotherapy, MSTs of the temozolomide base group and nimustine hydrochloride (ACNU) base group were 16.9 and 14.6 months, respectively, whereas the MST of patients without chemotherapy was only 9.8 months (p<0.0001). The MSTs for 40-Gy EBRT plus CK-SRT and 60-Gy EBRT were 19.1 and 10.7 months, respectively (p<0.0001). But in sub-selected patients, treated during 2001-2010, whose resection rate was total resection or subtotal resection, EBRT was completed and postoperative KPS was greater than or equal to 70, the MST with and without CK-SRT was 26.6 and 18.3 months, respectively (p=0.1529). According to the Cox proportional hazards model, degree of resection, KPS, ACNU use, temozolomide use, bevacizumab use, EBRT dose, and CK-SRT use were good prognostic factors. Use of neuronavigation and use of intraoperative magnetic resonance imaging were related to higher resection rate, but not determined as prognostic factors. CONCLUSIONS: We observed a gradual improvement in glioblastoma outcome, presumably because of improvements in therapeutic modalities for surgery, anticancer agents, and radiation, but the efficacy of CK-SRT remains unclear.

Neuroimaging diagnosis of pineal region tumors-quest for pathognomonic finding of germinoma.

INTRODUCTION: Our study aimed to elucidate the imaging features for the differentiation of pineal germinoma and other pineal region tumors. METHODS: Image data sets of computed tomographic (CT) scan and magnetic resonance imaging (MRI) data of 93 pineal region tumors including 33 germinomas, 30 nongerminomatous germ cell tumors (NGGCTs), 20 pineal parenchymal tumors (PPTs), and 10 miscellaneous tumors of pineal region were reviewed. Imaging features on CT and MRI were qualitatively assessed by three readers. To know the reasons for morphological differences between germinomas and NGGCTs, histological investigation was done. RESULTS: Localized calcification was seen in more than 70 % of germ cells tumors (GCTs: germinomas and NGGCTs) while it was scattered in more than half of PPTs. Cystic components in tumors were most frequent in NGGCTs (62 %). Multiplicity of lesion was restricted to GCTs: 39.4 % in germinoma and 10.0 % in NGGCTs. Thick peritumoral edema was more frequent in germinoma than in NGGCT: 40.6 vs. 14.8 % (p=0.0433, Fisher's test). Bithalamic extension of tumor was seen in 78.8 % of germinomas. It was significantly rare in other groups of tumors (p<0.0001, Fisher's test). The relative collagen amount per unit area was significantly lower in germinoma than in NGGCTs. CONCLUSION: By paying attention to characteristic features as bithalamic extension, thick peritumoral edema, calcification pattern, multiplicity, and their combination, the preoperative differential diagnosis of pineal germinoma will become more accurate.

Geometric survey on magnetic resonance imaging of growth hormone producing pituitary adenoma.

Apart from the radiologic features regarding size and invasiveness, we had noticed some differences in morphology among types of pituitary adenomas. We conducted this study to verify the differences in radiologic morphology between growth hormone producing pituitary adenomas (GHoma) and nonfunctioning pituitary adenomas (NFoma). Pre-surgical magnetic resonance images (MRIs) were assessed in 50 cases of GHoma and 50 cases of NFoma. Geometric parameters on MRI were set in accordance with sellar anatomy. Intensity of T1-weighted image was not different between the two groups, but hypo-intensity of T2-weighted image was more frequently seen in GHoma. Predominant inferior extension of tumor was seen mostly in GHoma (88 vs. 38%). Extension of the tumor to the superior compartment of cavernous sinus was more frequent in NFoma. Pituitary gland was generally located superior to GHoma and postero-superior to NFoma. Growth characteristics of pituitary adenoma were confirmed to differ between GHoma and NFoma.

The assessment of relationship between the skull base development and the severity of frontal plagiocephaly after bilateral fronto-orbital advancement in the early life.

PURPOSE: The deformation of the skull base in patients with unilateral frontal plagiocephaly (UFP) is well known, but the mechanism is not still clear. We analyzed the skull base in the patients with UFP who underwent fronto-orbital advancement (FOA) in the early life during the last decade. METHODS: We assessed the treatment results and outcome of FOA performed in six patients, four girls and two boys younger than 2 years, in the last decade. Also, the basal cranium's angles were measured by 3D reconstruction images on computed tomography (CT) scan. RESULTS: The mean patients' age at FOAs was 11 months. Two cases were classified as grade 2A, two cases as grade 2B, and two cases as grade 3 (the classification of Di Rocco and Velardi). The ethmoidal axis was deviated a mean of 8.2° to the affected side. The mean angle between the petrosal pyramids and the midline (anterior-petrosal-sagittal angle, APSA) was 75.3° on the affected side and 66.2° on the normal side. The mean difference of APSA was 9.2°. On the follow-up CT images 5 years after surgery, the deviations of the ethmoidal axis clearly decreased, 5.7°, but the differences of APSA did not change, 8.8°. CONCLUSIONS: The midline distortion of anterior skull base should be considered to be spontaneously corrected during the follow-up periods in patients with all types of UFP who underwent FOA, unlike posterior skull base in the patients with grades 2B and 3 classification.

TLR4, IL-6, IL-18, MyD88 and HMGB1 are highly expressed in intracranial inflammatory lesions and the IgG4/IgG ratio correlates with TLR4 and IL-6.

We determined distribution of plasma cells and IgG4/IgG index and factors associated with the index in intracranial inflammatory lesions. Specimens of nine patients were analyzed immunohistochemically using antibodies against CD45, CD68, CD3, CD4, CD8, CD20, CD138, lambda chain, kappa chain, IgG, IgG4, IL-1α, IL-6, IL-18, toll-like receptor (TLR) 2, TLR4, high-mobility group box 1 (HMGB1), tumor necrosis factor-alpha (TNF-α), myeloid differentiation factor 88 (MyD88), and anaplastic lymphoma kinase (ALK). The relationship between all the factors was assessed using Spearman's rank correlation coefficient (ρ). Negative ALK staining was observed in all the patients. Plasma cells were detected in eight patients with varying degrees. The highest number of neutrophils, but no plasma cells, was observed in a patient with the shortest history of inflammation. IgG4/IgG index was independent of the number of plasma cells. The index was relatively highly correlated with IL-6 (ρ = 0.7271) and TLR4 expression (ρ = 0.7246). IL-6 expression was highly correlated with TLR4 expression (ρ = 0.8042). IL-18 was maximally expressed in all the patients. TLR4 expression was strong, but TRL2 expression was weak. Positive HMGB1 staining was observed in all the patients, predominantly in the nuclei, but also in the cytoplasm in four patients. The cytoplasmic expression strongly correlated with IL-1α expression (ρ = 0.9583). The cytoplasmic colocalization of HMGB1 and IL-1α was histologically confirmed in cells with collapsing nuclei by the double-staining method. The IgG4/IgG indexes varied case by case. IL-6 and TLR4 expressions may influence IgG4/IgG index. The nuclei of cells with both IL-1α and HMGB1 expressions in the cytoplasm collapse in the cell death stage. The cooperative high expression of TLR4, IL-6, IL-18, MyD88 and HMGB1 suggest their critical roles in the inflammation circuit.

The collagen matrix dural substitute graft prevents postoperative cerebrospinal fluid leakage after ventriculoperitoneal shunt surgery in patients aged <1 year.

Background: Cerebrospinal fluid (CSF) leakage is a common complication of ventriculoperitoneal shunt (VPS) and has the potential to induce shunt infection. Especially in infants and children, these are serious complications. DuraGen is a collagen matrix dural substitute used to reduce the risk of CSF leakage in various neurosurgeries. We report our VPS procedure with DuraGen for preventing postoperative CSF leakage in patients aged <1 year. Methods: We used DuraGen to prevent postoperative CSF leakage in six VPS surgeries. Antibiotic-impregnated shunt catheters and programmable valves with anti-siphon devices were also used in all cases. DuraGen was placed inside and atop the burr hole. All cases had an initial shunt pressure of 5 cmH2O. Fibrin glue was not used. Results: The patients underwent follow-up for a year after VPS surgery. There was no postoperative subcutaneous CSF collection or leakage after all six VPS surgeries. Furthermore, no postoperative shunt infections or DuraGen-induced adverse events were noted. Conclusion: We speculate that DuraGen has a preventive effect on postoperative CSF leakage in VPS cases aged <1 year.

Clinical presentation and treatment of distal posterior inferior cerebellar artery aneurysms.

Aneurysms located at the distal portion of the posterior inferior cerebellar artery (PICA) are rare, and their clinical features are not fully understood. We report the clinical features and management of 30 distal PICA aneurysms in 28 patients treated during the past decade at Kagoshima University Hospital and affiliated hospitals. Our series includes 20 women and eight men. Of their 30 aneurysms, 24 were ruptured, and six were unruptured; there were 27 saccular and two fusiform aneurysms; one was dissecting. Their location was at the anterior-medullary (n = 4), lateral-medullary (n = 9), tonsillomedullary (n = 7), telovelotonsillar (n = 6), and cortical (n = 4) segment of the PICA. In 18 patients, angiographic features suggested hemodynamic stress including an absent contralateral PICA or ipsilateral anterior inferior cerebellar artery, termination of the vertebral artery (VA) at the PICA, and hyperplasia or occlusion of the contralateral VA. As three patients died before surgery, 27 aneurysms in 25 patients were surgically treated. Of these, 6 were unruptured aneurysms; 20 were clipped via midline or lateral suboccipital craniotomy, and 5 were embolized with Guglielmi coils; in one, the PICA flow was reconstructed by OA-PICA anastomosis, and in the other one, the PICA was resected. Of the 25 surgically treated patients, 22 (88%) had good outcomes. The predominant contributor to the development of distal PICA aneurysms is thought to be increased hemodynamic stress attributable to anomalies in the PICA and related posterior circulation. Both direct clipping and coil embolization yielded favorable outcomes in our series. However, considering the difficulties that may be encountered at direct clipping in the acute stage and the availability of advanced techniques and instrumentation, aneurysmal coiling is now the first option to address these aneurysms.

FFAR1/GPR40 Contributes to the Regulation of Striatal Monoamine Releases and Facilitation of Cocaine-Induced Locomotor Activity in Mice.

The free fatty acid receptor 1 (FFAR1) is suggested to function as a G protein-coupled receptor (GPR40) for medium-to-long-chain free fatty acids. Previous studies on the expression of FFAR1 revealed that the nigrostriatal region is one of the areas which express abundant FFAR1 mRNA/protein in the central nervous system (CNS). However, the role of FFAR1 in the CNS has been still largely unclarified. Here, we examined a possible functional role of FFAR1 in the control of extracellular concentrations of striatal monoamines and cocaine-induced locomotor activity. Microdialysis analysis revealed that the basal level of extracellular dopamine (DA) was significantly elevated, while the basal serotonin (5-HT) level tended to be reduced in the striatum of FFAR1 knockout (-/-) mice. Interestingly, local application of a FFAR1 agonist, GW9508, markedly augmented the striatal 5-HT release in FFAR1 wild-type (+/+) mice, whereas topical application of a FFAR1 antagonist, GW1100, significantly reduced the 5-HT release. However, the enhanced 5-HT release was completely lost in -/- mice. Although acute administration of cocaine enhanced the locomotor activity in both +/+ and -/- mice, the magnitude of the enhancement was significantly reduced in -/- mice. In addition, intraperitoneal injection of GW1100 significantly decreased the cocaine-induced locomotor enhancement. These results suggest that FFAR1 has a facilitatory role in striatal 5-HT release, and the evoked 5-HT release might contribute to enhance cocaine-induced locomotor activity.

[Three pediatric cases with choroid plexus papilloma in the fourth ventricle].

Choroid plexus papillomas are rare; they comprise less than 1% of all intracranial tumors. In children, most of these neoplasms arise in the lateral ventricle while in adults they are primarily located in the fourth ventricle. We report 3 children with choroid plexus papilloma in the fourth ventricle; they were one 5-month-old girl and 2 boys aged 8-and 15-years. The baby girl presented with macrocephaly and signs of raised intracranial pressure, the 2 boys exhibited cerebellar signs. On magnetic resonance imaging (MRI) the tumors were well-enhanced with a cauliflower-like contour and hydrocephalus. In one case, diffusion weighted images (DWIs) showed an isointense tumor signal clearly different from the well-known hyperintensity of medulloblastomas, Via suboccipital craniotomy we succeeded in the total or subtotal surgical resection of these tumors and there were no sequela. None of the tumors have recurred in the intervening 2-9 years. In conclusion, choroid plexus papilloma should be included as a differential diagnosis in children presenting with tumors in the fourth ventricle. The contour of the tumor on MRI and its intensity on DWI may be clues for a correct preoperative diagnosis.

Histopathological variation in the demyelinating sentinel lesion of primary central nervous system lymphoma.

BACKGROUND: Primary central nervous system lymphoma (PCNSL) is one of the least common malignant brain tumors. It is usually diagnosed initially as diffuse large B cell lymphoma (DLBCL). In rare cases, however, a demyelinating lesion referred to as a "sentinel lesion" precedes the actual diagnosis, which usually depicts two distinct patterns of inflammatory cells during histological analysis. This case report describes a unique histological finding and describes the recognized variations in sentinel lesion histopathology. CASE DESCRIPTION: A 78-year-old female patient was found to have multiple white matter lesions of various degrees of enhancement on post-contrast T1-weighted magnetic resonance imaging. A stereotactic biopsy of a heterogeneous lesion in the left occipital lobe was performed, which revealed demyelination along with lymphocytic infiltration, reactive astrocytosis, abundant T cells, and foamy macrophages. There was no evidence of monoclonality, rapid regression of all lesions occurred, and the patient was thus treated for tumefactive demyelination. Three months later, all of the residual lesions had enlarged and were homogeneously enhancing. An endoscopic-guided biopsy of the right periventricular lesion showed diffuse atypical lymphoid cells. CONCLUSION: The sentinel lesion of PCNSL expresses a variable histological pattern of inflammatory cells. This case demonstrates a unique and rare picture of mixed perivascular and parenchymal infiltration of inflammatory cells, highlighting the importance of repeated biopsies and/or radiological examinations to obtain an accurate diagnosis.

Contiguous gene deletion neighboring TWIST1 identified in a patient with Saethre-Chotzen syndrome associated with neurodevelopmental delay: Possible contribution of HDAC9.

Saethre-Chotzen syndrome (SCS) is an autosomal dominant craniosynostotic disorder characterized by coronal synostosis, facial asymmetry, ptosis, and limb abnormalities. Haploinsufficiency of TWIST1, a basic helix-loop-helix transcription factor is responsible for SCS. Here, we report a 15-month-old male patient with typical clinical features of SCS in addition to developmental delay, which is a rare complication in SCS. He showed a de novo 0.9-Mb microdeletion in 7p21, in which TWIST1, NPMIP13, FERD3L, TWISTNB, and HDAC9 were included. In comparison with previously reported patients, HDAC9 was suggested to contribute to developmental delay in SCS patients with 7p21 mirodeletions.

Efficacy of bevacizumab therapy for unresectable malignant glioma: A retrospective analysis.

Bevacizumab (BEV), an inhibitor of vascular endothelial growth factor A, has been used for primary and recurrent malignant gliomas in Japan since June, 2013. Previous randomized controlled studies demonstrated that BEV prolonged the progression-free survival, but not the overall survival (OS) of patients with newly diagnosed glioblastoma. The aim of the present study was to elucidate the effect of BEV on the OS of patients with unresectable malignant gliomas. Of the 440 cases of malignant glioma initially treated in our institute between 2000 and 2015, 88 were not suitable for maximal resection due to patient age, physical condition, tumor location and extent, or the patient's wishes. Based on the biopsy results, the pathological diagnosis was glioblastoma, anaplastic astrocytoma and anaplastic oligodendroglioma in 60, 19 and 9 patients, respectively. Kaplan-Meier and log-rank analyses were performed to investigate the effect of BEV on OS. OS was longer in the BEV group (n=24) compared with that in the non-BEV group [n=64; median survival time (MST), 566 vs. 243 days, respectively; hazard ratio (HR)=0.413; 95% confidence interval (CI): 0.216-0.787; P=0.003]. In the 41 patients who received temozolomide (TMZ) and radiotherapy and the 31 patients with glioblastoma who received TMZ and radiotherapy, OS was longer in the BEV group compared with that in the non-BEV group (MST, 568 vs. 334 days, HR=0.404, 95% CI: 0.175-0.933, P=0.016; and MST, 566 vs. 160 days, HR=0.253, 95% CI: 0.099-0.646, P=0.001, respectively). In the Cox hazard model analysis of 41 patients who underwent TMZ-based chemoradiotherapy after biopsy, the use of BEV was the strongest independent beneficial factor associated with prolonged OS (HR=0.101; P=0.0002). Our retrospective survey suggested that BEV prolongs the OS of patients with unresectable malignant gliomas. However, these results must be verified by a well-designed prospective randomized controlled trial.

Use of the guidewire for repositioning displaced spinal catheter during lumboperitoneal shunt placement.

BACKGROUND: During lumboperitoneal shunt operation, we may inadvertently pull and displace the spinal catheter after the catheter placement into the spinal canal. The authors introduce an easy and efficient technique for repositioning a prolapsed catheter into correct place. METHODS: After the confirmation of cerebrospinal fluid outflow from the end of the catheter, a guidewire for angiogram was gently inserted into the catheter until its tip reached the end of the catheter. The guidewire-inserted catheter was able to be pushed back manually and adequately placed in the spinal canal under the fluoroscope guidance. RESULTS: Three patients underwent repositioning using this "rescue wire technique" without complications. CONCLUSION: This "rescue wire technique" is useful for repositioning of the displaced catheter into the spinal canal.

Ganglioglioma in the Third Ventricle: A Case Report and Literature Review.

Gangliogliomas typically arise in the cerebral hemispheres, but may occur rarely in the ventricles. Herein, we report a 38-year-old woman who was treated for hydrocephalus caused by a ganglioglioma of the third ventricle. Magnetic resonance imaging (MRI) revealed a heterogeneously enhanced tumor occupying the anterior part of the third ventricle. A left trans-lateral ventricular trans-foramen of Monroi approach was effective in achieving subtotal resection of the tumor, which had arisen from the medial part of left thalamus to the hypothalamus. Follow-up MRI showed no recurrence of the tumor 5-years after surgery. On pathological examination, the tumor was composed of a glial component that presented features mimicking pilocytic astrocytoma with proliferations of large gangliocytic cells that stained positive for neuronal markers. A review of six similar cases in the literature, including our own, revealed hydrocephalus to be the main symptom of gangliogliomas, with pituitary insufficiencies and visual disturbances having also been reported. In conclusion, we highlight the importance of gangliogliomas in the differential diagnosis of third ventricular tumors presenting with hydrocephalus.

Concurrent occurrence of an inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving MAP2K2 in a patient with developmental delay, distinctive facial features, and lambdoid synostosis.

A female patient presented with developmental delay, distinctive facial features, and congenital anomalies, including a heart defect and premature lambdoid synostosis. The patient showed a paternally inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving the mitogen-activated protein kinase kinase 2 gene (MAP2K2), in which mutations cause the cardio-facio-cutaneous (CFC) syndrome. Reports of patients with overlapping 19p13.3 microdeletions of this region describe similar clinical manifestations including distinctive facial features: prominent forehead, horizontal/down-slanting palpebral fissures, long midface, pointed chin/angular jaw, sparse eyebrows, and underdeveloped cheekbones. Some of these findings overlapped to that of the patients with 16p13.11 microduplications and CFC syndrome. Although craniosynostosis was occasionally observed in patients with dominant-negative mutations in RAS/MAP kinase signaling genes (RASopathies) related to CFC syndrome, it was also reported in two patients with 16p13.11 microduplications. Genetic contributions of both chromosomal aberrations were discussed.