Prenatal clinical manifestations in individuals with COL4A1/2 variants.

BACKGROUND: Variants in the type IV collagen gene (COL4A1/2) cause early-onset cerebrovascular diseases. Most individuals are diagnosed postnatally, and the prenatal features of individuals with COL4A1/2 variants remain unclear. METHODS: We examined COL4A1/2 in 218 individuals with suspected COL4A1/2-related brain defects. Among those arising from COL4A1/2 variants, we focused on individuals showing prenatal abnormal ultrasound findings and validated their prenatal and postnatal clinical features in detail. RESULTS: Pathogenic COL4A1/2 variants were detected in 56 individuals (n=56/218, 25.7%) showing porencephaly (n=29), schizencephaly (n=12) and others (n=15). Thirty-four variants occurred de novo (n=34/56, 60.7%). Foetal information was available in 47 of 56 individuals, 32 of whom (n=32/47, 68.1%) had one or more foetal abnormalities. The median gestational age at the detection of initial prenatal abnormal features was 31 weeks of gestation. Only 14 individuals had specific prenatal findings that were strongly suggestive of features associated with COL4A1/2 variants. Foetal ventriculomegaly was the most common initial feature (n=20/32, 62.5%). Posterior fossa abnormalities, including Dandy-Walker malformation, were observed prenatally in four individuals. Regarding extrabrain features, foetal growth restriction was present in 16 individuals, including eight individuals with comorbid ventriculomegaly. CONCLUSIONS: Prenatal observation of ventriculomegaly with comorbid foetal growth restriction should prompt a thorough ultrasound examination and COL4A1/2 gene testing should be considered when pathogenic variants are strongly suspected.

Elimination of the check-valve mechanism of the sacral Tarlov cyst using a rotation flap technique in a pediatric patient: technical note.

OBJECTIVE: Symptomatic Tarlov cysts in children are not sufficiently reported and treatment methods for Tarlov cysts are still controversial. The goal of this manuscript is to introduce a new variation of the surgical technique. METHODS: We performed surgery to eliminate the one-way check valve mechanism of the Tarlov cyst in a 7-year-old female who presented with urinary and fecal incontinence. A relatively large S3 nerve root cyst showed a one-way check valve on computed tomography myelography. The inlet of the check valve was enlarged with rotation flap reconstruction. RESULTS: Two months after surgery, the patient had established normal sphincter control. MRI performed two years later showed that the treated cyst was collapsing, and no recurrence occurred. CONCLUSIONS: Rotation flap enlargement of the check valve inlet is a safe and efficacious option for the treatment of pediatric patients with sacral Tarlov cysts.

A case of pediatric moyamoya disease with severe cerebral vasospasm and delayed cerebral infarction following an intraventricular hemorrhage.

Reports on patients with moyamoya disease presenting cerebral ischemic complications after the onset of intraventricular hemorrhage (IVH) and/or intracerebral hemorrhage (ICH) are limited. Herein, we report a case of a 7-year-old girl with moyamoya disease with severe cerebral vasospasm and delayed cerebral infarction following an IVH. Although the case is rare, the potential for vasospasm-induced cerebral infarction should be carefully considered and thus, intensive treatment should be immediately initiated.

Hemorrhagic stroke associated with essential thrombocythemia: Case report and literature review.

Hemorrhagic stroke associated with essential thrombocythemia (ET) is very infrequent. Herein, we report a case of a 33-year-old woman with a 2-year history of ET who developed intracerebral and subarachnoid hemorrhage. Angiography demonstrated severe vessel irregularity in the bilateral cerebral arteries. Molecular genetic testing revealed a calreticulin mutation. To our knowledge, hemorrhagic stroke has been reported in only six other patients with ET, and this is the first report of hemorrhagic stroke in an ET patient with a calreticulin mutation. We review the current literature and discuss the possible underlying mechanisms.

Stabilization of vulnerable carotid plaques with proprotein convertase subtilisin/kexin type 9 inhibitor alirocumab.

Proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors, a novel class of monoclonal antibodies, reduce low-density lipoprotein cholesterol levels and improve outcomes of myocardial infarction and stroke. However, the effects of PCSK9 inhibitors on carotid plaques remain unclear. We describe three patients treated with PCSK9 inhibitor alirocumab for progressive carotid stenosis despite lipid-lowering statin therapy. All three patients had vulnerable plaques on magnetic resonance (MR) plaque imaging. After alirocumab treatment initiation, no patients suffered stroke or adverse events, and the stabilization of the carotid plaques was observed on MR plaque imaging.

Association between extracranial internal carotid artery tortuosity and thromboembolic complications during coil embolization of anterior circulation ruptured aneurysms.

BACKGROUND: The most frequent neurological complication during coil embolization of a ruptured cerebral aneurysm is a thromboembolic event. The association between the tortuosity of the internal carotid artery (ICA) and thromboembolic events (TEEs) during coil embolization of ruptured cerebral aneurysms remains unclear. The present study aimed to investigate the association between extracranial ICA tortuosity and thromboembolic complications during coil embolization of anterior circulation ruptured aneurysms. METHODS: A cohort of 57 patients with 57 anterior circulation ruptured aneurysms who underwent endovascular embolization at a single institution was retrospectively investigated. Patients were divided into two groups, those who experienced TEEs and those who did not that were compared and analyzed based on patient baseline characteristics, procedural factors, and anatomical factors including those of aneurysms and extracranial ICA tortuosity. The anatomical factors of the aneurysms included maximum dome size, neck width, dome-to-neck ratio, and dome-to-neck aspect ratio. Extracranial ICA angles in the proximal and distal curvature were evaluated as ICA tortuosity. RESULTS: Three of the 57 patients were excluded because of unavailability of data regarding ICA tortuosity; 54 patients were finally evaluated. TEEs occurred in six patients with five anterior cerebral and one internal carotid aneurysms. The extracranial distal ICA angle was significantly larger in patients with TEEs than in those without. Procedural factors and anatomical factors of the aneurysms were not associated with TEEs. CONCLUSIONS: Extracranial ICA tortuosity was significantly associated with an increased incidence of thromboembolic events during endovascular coiling of anterior circulation ruptured aneurysms.

[Surgical Technique for Lumbar Spinal Extraforaminal Schwannoma].

INTRODUCTION: Spinal neurinomas are frequently observed in the cauda equina, particularly within the dura mater. However, extraforaminal schwannomas(EFS), which are neither intradural nor dumbbell type, are relatively rare; hence, different surgical procedures have been employed. Here, we report 12 cases of lumbar EFS with total resection that were safely performed. METHODS AND SUBJECTS: This study was comprised of 12 patients with lumbar EFS(excluding those with neurofibromas)who were previously treated at our hospital. Using the Wiltse paraspinal approach, we inserted the microscope until it reached the tumor surface. After confirming the tumor surface, we inserted a scalpel to make an incision in a portion of the outer capsule. Then, we confirmed that the surfaces of the outer capsule and the tumor within the capsule could be dissected. Next, a thread was attached to the outer capsule and pulled upwards so that there was enough space to perform the required procedures within the capsule. Using a CUSA®, we removed the intracapsular tumor. After its removal, the outer capsule was treated carefully to ensure that the origin nerve was not damaged. RESULTS: In all cases, we successfully performed a total removal of the intracapsular tumor;in the mean postoperative observation period of 8 years, no recurrence was observed. Although temporary paralysis was observed in three patients, this improved over time. CONCLUSION: We report our experience with a surgical technique that ensured the safe removal of lumbar EFS. Satisfactory results were achieved, with no recurrences observed during the mean 8-year postoperative observation period.

Outcome of microvascular decompression for hemifacial spasm associated with the vertebral artery.

We retrospectively compared the outcome of microvascular decompression (MVD) for hemifacial spasm (HFS) associated with the vertebral artery (VA) with that of MVD for HFS unrelated to the VA. Between April 2008 and April 2015, 22 patients with VA-associated HFS underwent MVD at our institution. The median follow-up period was 28 months (range, 12-90 months). Results were classified as excellent in 19 patients (86 %), good in one (5 %), fair in one (5 %), and poor in one (5 %). Immediate complications developed in five patients (23 %), and one of these complications (5 %) was permanent. The surgical outcome of MVD for VA-associated HFS was similar to that of MVD for HFS unrelated to the VA; however, the incidence of complications was significantly more frequent in patients whose VA compressed the more proximal portion of the facial nerve root exit zone from the caudal side at the pontomedullary sulcus. We conclude that preoperative evaluation of VA compression patterns is important to predict the difficulty of the planned MVD procedure.

[A Rare Case of Cerebellar Hemangioblastoma Causing Taste Disorder].

Taste(gustation)is one of the five senses, and comprises the types: sweet, bitter, salty, sour, and umami. Taste disorders, such as dysgeusia and parageusia, are classified into 2 types: those with peripheral origin and those with central origin. The peripheral origin-type taste disorder is caused by zinc deficiency, mouth dryness, a side effect of radiotherapy or complication of systemic diseases such as, diabetes, hepatopathy, and nephropathy. The central origin-type taste disorder is reported to be caused due to demyelinating disease, pontine hemorrhage, pontine infarction, and thalamic infarction; it is very rarely caused by a brain tumor. We surgically treated a 69-year-old man with cerebellar hemangioblastoma who had developed taste disorder. The tumor compressed the solitary nucleus, which includes the taste tract in the central nervous system. On removal of the tumor, the taste disorder gradually improved.

Microsurgical anatomy of the trigeminal nerve.

The objective of this study is to review surgical anatomy of the trigeminal nerve. We also demonstrate some pictures involving the trigeminal nerve and its surrounding connective and neurovascular structures. Ten adult cadaveric heads were studied, using a magnification ranging from 3× to 40×, after perfusion of the arteries and veins with colored latex. The trigeminal nerve is the largest and most complex of the cranial nerves. It serves as a major conduit of sensory input from the face and provides motor innervation to the muscles of mastication. Because of its size and complexity, it is essential to have thorough knowledge of the nerve before diagnoses and treatment of the pathologic processes in the orofacial, temporomandibular, infratemporal, and pterygopalatine areas. The trigeminal nerve is encountered with imaging or surgery of the skull base surgery. Thus, a comprehensive knowledge of the anatomy of the trigeminal nerve is crucial for performing the surgical procedures without significant complication.

Three-Dimensional (3D) Microcatheter Shaping Using Touch Screen Devices for Cerebral Aneurysm Coil Embolization.

OBJECTIVE: In cerebral aneurysm coil embolization, proper microcatheter shaping is crucial to reduce complications and achieve sufficient embolization. Shaping a microcatheter in 3 dimensions (3D) is often required but can be challenging. We assessed the usefulness of a novel shaping on screen (SOS) method that displays real-size 3D rotational angiography (RA) images on a touch screen device during cerebral aneurysm embolization to facilitate 3D microcatheter shaping. METHODS: In this study, 18 patients with cerebral aneurysm treated with this technique were included. Real-size 3D-RA images obtained during the embolization procedure were displayed on the touch screen device, which allowed for real-time manipulation. The shape of the microcatheter was adjusted to conform to the curvature of the vessel by swiping the touch screen device and bending the mandrel accordingly. We assessed the clinical and angiographic results, along with the accuracy and stability of the microcatheter. RESULTS: No procedure-related complications were observed. The mean packing density was 41% ± 12%. In all but 1 case, microcatheters were inserted into the aneurysms without guidewire assistance. After coiling, all microcatheter forms were stable. CONCLUSIONS: Three-dimensional (3D) microcatheter shaping using touch screen devices during cerebral aneurysm coil embolization may be simple and safe and can achieve high packing density of aneurysms.

Usefulness and Safety of Gelatin-Thrombin Matrix Sealants in Minimally Invasive Microscopic Discectomy.

Objective This study aimed to evaluate the usefulness and safety of gelatin-thrombin matrix sealants (GTMSs) in minimally invasive microscopic discectomy, a surgical procedure commonly used to treat lumbar disc herniation. Materials and Methods Out of 484 patients who underwent minimally invasive microscopic discectomy between April 2018 and December 2022, 35 patients with a history of surgery at the same level were excluded, resulting in a total of 449 patients included in the study. Among them, 316 patients were treated using GTMS, whereas 133 were treated using collagen-based absorbable local hemostatic agents. Patient characteristics, surgical duration, intraoperative blood loss, postoperative drainage volume, intraoperative dural injury, and incidence of postoperative epidural hematoma were analyzed and compared between the two groups. Results No significant differences in patient demographics were observed between the two groups, except for activated partial thromboplastin time and prothrombin time. Although there were no significant differences in the mean surgical time and intraoperative blood loss between the two groups, they tended to be shorter and less in the GTMS group (56.3 ± 20.2 vs. 58.2 ± 20.4 minutes [ p = 0.36] and 10.0 ± 15.4 vs. 11.8 ± 8.3 g [ p = 0.20]). The volume of postoperative drainage was significantly lower in the GTMS group than that in the comparison group (35.3 ± 21.8 vs. 49.5 ± 34.1 g [ p < 0.01]). There was a trend indicating a difference in the number of intraoperative dural injuries and the need for reoperation due to postoperative epidural hematoma (2 vs. 3 ± 20.4 minutes [ p = 0.21] and 1 vs. 2 [ p = 0.16]). Conclusion The use of a GTMS in minimally invasive microscopic discectomy appears to be beneficial in reducing postoperative drainage volume. It has also been shown that it may improve clinical outcomes such as intraoperative dural injury and postoperative epidural hematoma. Furthermore, further consideration of the medical economic impact is required.

Subarachnoid iodine leakage on dual-energy computed tomography after mechanical thrombectomy is associated with malignant brain edema.

BACKGROUND: Dual-energy computed tomography (DE-CT) can differentiate between hemorrhage and iodine contrast medium leakage following mechanical thrombectomy (MT) for acute ischemic stroke (AIS). We determined whether subarachnoid hemorrhage (SAH) and subarachnoid iodine leakage (SAIL) on DE-CT following MT were associated with malignant brain edema (MBE). METHODS: We analyzed the medical records of 81 consecutive anterior circulation AIS patients who underwent MT. SAH or SAIL was diagnosed via DE-CT performed immediately after MT. We compared the procedural data, infarct volumes, MBE, and modified Rankin scale 0-2 at 90 days between patients with and without SAH and between patients with and without SAIL. Furthermore, we evaluated the association between patient characteristics and MBE. RESULTS: A total of 20 (25%) patients had SAH and 51 (63%) had SAIL. No difference in diffusion-weighted imaging (DWI)-infarct volume before MT was observed between patients with and without SAH or patients with and without SAIL. However, patients with SAIL had larger DWI-infarct volumes 1 day following MT than patients without SAIL (95 mL vs 29 mL; p=0.003). MBE occurred in 12 of 81 patients (15%); more patients with SAIL had MBE than patients without SAIL (22% vs 3%; p=0.027). Severe SAIL was significantly associated with MBE (OR, 12.5; 95% CI, 1.20-131; p=0.006), whereas SAH was not associated with MBE. CONCLUSION: This study demonstrated that SAIL on DE-CT immediately after MT was associated with infarct volume expansion and MBE.

Obstructive hydrocephalus following aqueductal stenosis caused by supra- and infratentorial developmental venous anomaly: case report.

OBJECTIVE: We report a rare case of hydrocephalus following aqueductal stenosis caused by developmental venous anomaly (DVA). METHODS: Four years after the incidental discovery of asymptomatic DVA, the 10-year-old boy presented with symptoms of hydrocephalus. Enhanced computed tomographic scans and magnetic resonance images showed supra- and infratentorial DVAs with caput medusae appearances in the right basal ganglia and cerebellum. Three dilated collector veins in the right basal ganglia, floor of the third ventricle, and floor of the fourth ventricle gathered together to drain into the great vein of Galen. Three-dimensional fusion images showed that the serpentine dilated vein from the posterior fossa coursed in the aqueduct and caused the aqueductal stenosis, which was confirmed by operative endoscopy. RESULTS: Endoscopic third ventriculostomy was performed and the hydrocephalus was relieved. CONCLUSIONS: Although aqueductal stenosis caused by DVA is rare, it is important to be considered in the differential diagnosis of hydrocephalus. Three-dimensional reconstruction and fusion images are very useful.

Microsurgical anatomy of the infratemporal fossa.

The objective of this study is to clearly and precisely describe the topography and contents of the infratemporal fossa. Ten formalin-fixed, adult cadaveric specimens were studied. Twenty infratemporal fossa were dissected and examined using micro-operative techniques with magnifications of 3-40×. Information was obtained about the inter-relationships of the contents of the infratemporal fossa. The infratemporal fossa lies at the boundary of the head and neck, and the intracranial cavity. It is surrounded by the maxillary sinus anteriorly, the mandible laterally, the pterygoid process anteromedially, and the parapharyngeal space posteromedially. It contains the maxillary artery and its branches, the pterygoid muscles, the mandibular nerve, and the pterygoid venous plexus. The course and the anatomic variation of the maxillary artery and the branches of the mandibular nerve were demonstrated. The three-dimensional (3D) relationships between the important bony landmarks and the neurovascular bundles of the infratemporal fossa were also shown. The skull base anatomy of the infratemporal fossa is complex, requiring neurosurgeons and head and neck surgeons to have a precise knowledge of 3D details of the topography and contents of the region. A detailed 3D anatomic knowledge is mandatory to manage benign or malignant lesions involving the infratemporal fossa without significant postoperative complications.

Two differential cavities in syringomyelia of pediatric Chiari I malformation presenting with unilateral foot drop.

INTRODUCTION: Patients with Chiari I malformation (CM1) may have chronic symptoms of syringomyelia, including numbness and weakness of the upper limbs, typically during young adulthood. Acute or subacute presentation of unilateral foot drop has been rarely reported as a first symptom of CM1-associated syringomyelia exclusively in childhood or adolescence. Why these patients do not show any symptoms of the upper limbs although holocord syringomyelia is always observed on magnetic resonance imaging (MRI) is unclear. CASE PRESENTATION: A four-year-old girl presented rapidly with isolated left foot drop. Conventional MRI revealed holocord syringomyelia associated with CM1. Three-dimensional constructive interference in steady state (3D-CISS) imaging further demonstrated that the syringomyelia was comprised of two differential cavities that communicated with each other via a small pore: a centrally positioned upper cavity and a left-deviated lower one. Surgical decompression of the foramen magnum resolved the symptom with radiological improvement of the two cavities. CONCLUSION: In contrast to a centrally enlarged syrinx that is often asymptomatic, a paracentrally extended syrinx usually produces segmental signs related to its levels. Thus, the left foot drop in this case would have been due to the ipsilaterally deviated lower cavity that was distinguished from the central upper cavity by 3D-CISS imaging. Further reports using this imaging technique are needed to verify the hypothetic pathology.

Pituitary adenoma presenting as isolated oculomotor nerve palsy.

Background: Isolated oculomotor nerve palsy is a relatively uncommon symptom of pituitary adenoma that usually occurs in association with pituitary apoplexy or cavernous sinus (CS) invasion. Case Description: We report two cases of relatively small pituitary adenomas with neither apoplexy nor CS invasion presenting as isolated oculomotor nerve palsy. Both patients presented with gradually worsening diplopia, without headache or visual field defects. Magnetic resonance imaging (MRI) showed a pituitary tumor with no evidence of intratumoral hemorrhage. Computed tomography revealed a lateroposterior extension of the tumor with the erosion of the posterior clinoid process. Constructive interference in steady-state MRI revealed compression of the oculomotor nerve by the tumor at the oculomotor triangle. The patients underwent endoscopic transsphenoidal surgery, and the intraoperative findings showed that the tumors did not invade the CS. The tumors were completely resected, and the oculomotor palsies resolved fully. Conclusion: These cases illustrate the need to consider isolated oculomotor nerve palsy as an initial manifestation of a relatively small pituitary adenoma with neither apoplexy nor CS invasion. Based on the characteristic radiological findings, early surgical treatment is recommended to preserve oculomotor function.

Microsurgical anatomy of the abducens nerve.

The aim of this study is to demonstrate and review the detailed microsurgical anatomy of the abducens nerve and surrounding structures along its entire course and to provide its topographic measurements. Ten cadaveric heads were examined using ×3 to ×40 magnification after the arteries and veins were injected with colored silicone. Both sides of each cadaveric head were dissected using different skull base approaches to demonstrate the entire course of the abducens nerve from the pontomedullary sulcus to the lateral rectus muscle. The anatomy of the petroclival area and the cavernous sinus through which the abducens nerve passes are complex due to the high density of critically important neural and vascular structures. The abducens nerve has angulations and fixation points along its course that put the nerve at risk in many clinical situations. From a surgical viewpoint, the petrous tubercle of the petrous apex is an intraoperative landmark to avoid damage to the abducens nerve. The abducens nerve is quite different from the other nerves. No other cranial nerve has a long intradural path with angulations and fixations such as the abducens nerve in petroclival venous confluence. A precise knowledge of the relationship between the abducens nerve and surrounding structures has allowed neurosurgeon to approach the clivus, petroclival area, cavernous sinus, and superior orbital fissure without surgical complications.

A Tumor Suppressor Gene, N-myc Downstream-Regulated Gene 1 (NDRG1), in Gliomas and Glioblastomas.

The development of potent and selective therapeutic approaches to glioblastoma (GBM) requires the identification of molecular pathways that critically regulate the survival and proliferation of GBM. Glioblastoma stem-like cells (GSCs) possess stem-cell-like properties, self-renewal, and differentiation into multiple neural cell lineages. From a clinical point of view, GSCs have been reported to resist radiation and chemotherapy. GSCs are influenced by the microenvironment, especially the hypoxic condition. N-myc downstream-regulated gene 1 (NDRG1) is a tumor suppressor with the potential to suppress the proliferation, invasion, and migration of cancer cells. Previous studies have reported that deregulated expression of NDRG1 affects tumor growth and clinical outcomes of patients with GBM. This literature review aimed to clarify the critical role of NDRG1 in tumorigenesis and acquirement of resistance for anti-GBM therapies, further to discussing the possibility and efficacy of NDRG1 as a novel target of treatment for GBM. The present review was conducted by searching the PubMed and Scopus databases. The search was conducted in February 2022. We review current knowledge on the regulation and signaling of NDRG1 in neuro-oncology. Finally, the role of NDRG1 in GBM and potential clinical applications are discussed.

Cervical Cord Compression by Aberrant Vertebral Artery Presenting with Neuralgic Pain: A Case Report.

The vertebral artery (VA) is often affected by anatomical variations; however, it is usually asymptomatic and is found incidentally. Herein, we report a case of cervical cord compression caused by bilateral aberrant VAs. A 65-year-old woman presented with paroxysmal lancinating pain in the neck that later extended to the shoulders and upper arms bilaterally. Magnetic resonance imaging and computed tomographic angiography revealed an aberrant course of both VAs entering the spinal canal between the atlas and axis and compressing the cervical cord at the atlas level. Microvascular decompression was performed with transposition of the VAs, and the pain resolved immediately after the surgery. A certain number of anatomical variants of the distal VA can be explained by size variations and connection of the lateral spinal artery (LSA). Considering that an aberrant VA may correspond to an enlarged LSA, optimal transposition should be performed to prevent neurological complications.