Transcriptomic and epigenetic dissection of spinal ependymoma (SP-EPN) identifies clinically relevant subtypes enriched for tumors with and without NF2 mutation.

Ependymomas encompass multiple clinically relevant tumor types based on localization and molecular profiles. Tumors of the methylation class "spinal ependymoma" (SP-EPN) represent the most common intramedullary neoplasms in children and adults. However, their developmental origin is ill-defined, molecular data are scarce, and the potential heterogeneity within SP-EPN remains unexplored. The only known recurrent genetic events in SP-EPN are loss of chromosome 22q and NF2 mutations, but neither types and frequency of these alterations nor their clinical relevance have been described in a large, epigenetically defined series. Transcriptomic (n = 72), epigenetic (n = 225), genetic (n = 134), and clinical data (n = 112) were integrated for a detailed molecular overview on SP-EPN. Additionally, we mapped SP-EPN transcriptomes to developmental atlases of the developing and adult spinal cord to uncover potential developmental origins of these tumors. The integration of transcriptomic ependymoma data with single-cell atlases of the spinal cord revealed that SP-EPN display the highest similarities to mature adult ependymal cells. Unsupervised hierarchical clustering of transcriptomic data together with integrated analysis of methylation profiles identified two molecular SP-EPN subtypes. Subtype A tumors primarily carried previously known germline or sporadic NF2 mutations together with 22q loss (bi-allelic NF2 loss), resulting in decreased NF2 expression. Furthermore, they more often presented as multilocular disease and demonstrated a significantly reduced progression-free survival as compared to SP-EP subtype B. In contrast, subtype B predominantly contained samples without NF2 mutation detected in sequencing together with 22q loss (monoallelic NF2 loss). These tumors showed regular NF2 expression but more extensive global copy number alterations. Based on integrated molecular profiling of a large multi-center cohort, we identified two distinct SP-EPN subtypes with important implications for genetic counseling, patient surveillance, and drug development priorities.

Angiographic challenges of spinal dural and epidural arteriovenous fistulas: report on 45 cases.

PURPOSE: The localization of the fistula level in spinal dural arteriovenous fistulas (dAVFs) and epidural arteriovenous fistulas (edAVFs) remains a diagnostic challenge. METHODS: Consecutive patients with spinal dAVFs and edAVFs in the thoracic, lumbar, and sacral regions were included. The primary endpoint was to describe the characteristics of patients who required angiography with multiple catheterizations of segmental arteries (10 or more). RESULTS: Forty-five patients (median age 69 years; male 89%; dAVFs, n = 31; edAVFs, n = 14) were included. Spinal dAVFs commonly developed in the thoracic region and edAVFs in the lumbosacral region. Fistulas were predicted at the correct level or plus/minus 2 level in less invasive examinations using multi-detector CT angiography (n = 28/36, 78%) and/or contrast-enhanced MR angiography (n = 9/14, 64%). We encountered diagnostic challenges in the localization of fistulas in 6 patients. They underwent angiography a median of 2 times. In each patient, spinal levels were examined at a median of 25 levels with a median radiation exposure of 3971 mGy and 257 ml of contrast. Fistulas were finally localized at the high thoracic region (T4-6) in 3 patients, the sacral region (S1-2) in 2, and the lumbar region (L3) in 1. Four patients were diagnosed with edAVFs and 2 with dAVFs. The correlation coefficient between the fistula level and the rostral end of the intramedullary T2 high-signal intensity on MRI was interpreted as none. CONCLUSION: In patients in whom less invasive examinations failed for fistula localization, high thoracic or sacral AVFs need to be considered.

Relationships between the global symptom score and electrophysiological findings after surgical release for carpal tunnel syndrome: Indications and outcomes.

PURPOSE: Regarding surgical indications for carpal tunnel syndrome (CTS), the hypothesis that the recovery processes of subjective symptoms differ among pain, sensory, and motor symptoms and correlate with recovery in objective nerve conduction studies was examined in the present study. METHODS: The global symptom score (GSS) is a method used to assess clinical outcomes and covers subjective symptoms, including pain (pain and nocturnal awakening), sensory (numbness and paresthesia), and motor (weakness/clumsiness) symptoms. The relationships between long-term changes in GSS and recovery in nerve conduction studies were investigated. RESULTS: Forty patients (40 hands) were included (mean age 65 years; 80% female; 68% with moderate CTS: sensory nerve conduction velocity < 45 m/s and motor nerve distal latency > 4.5 ms). Pain and nocturnal awakening rapidly subsided within 1 month after surgery and did not recur in the long term (median 5.6 years). Paresthesia significantly decreased 3 months after surgery and in the long term thereafter. Weakness/clumsiness significantly decreased at 1 year. Sensory nerve distal latency, conduction velocity, and amplitude significantly improved 3 months and 1 year after surgery, and correlated with nocturnal awakening in the short term (3 months) in moderate CTS cases. The patient satisfaction rate was 91%. CONCLUSION: Rapid recovery was observed in pain and nocturnal awakening, of which nocturnal awakening correlated with the recovery of sensory nerve conduction velocity. Patients with pain symptoms due to moderate CTS may benefit from surgical release.

Intradural radicular arteriovenous fistula that mimics dural arteriovenous fistula: report of three cases.

We herein present three cases of a rare type of spinal AVF, an intradural radicular AVF, which mimicked a dural AVF. A 65-year-old male presented with congestive myelopathy. On angiography, right vertebral angiogram (VAG) showed a suspected dural AVF; however, left VAG showed the same intradural dilated vein fed by the anterior spinal artery (ASA). Intraoperative and histological results suggested that a single AVF was located on the right C1 nerve root fed by the right C1 radicular artery and branch of the anterior spinal artery. Two additional patients with a radicular AVF at the C3 or C5 level were presented. Intradural radicular AVFs and dural AVFs have very similar appearances; however, there is a difference that makes the risk of the endovascular treatment of radicular AVFs markedly higher because of blood supply from the ASA. In our case, the AVF was completely occluded by direct surgery without major complications.

Clinical and neuroimaging findings of spinal dural arteriovenous fistulas: How to avoid misdiagnosis of this disease.

OBJECTIVE: Spinal dural arteriovenous fistulas (DAVFs) are rare but can cause serious gait and micturition disturbances. Delays in diagnosis and treatment result in poor clinical outcomes; however, the process of misdiagnosis is unknown. METHODS: Forty consecutive patients were retrospectively analyzed. RESULTS: Thirty-one patients (78%) were initially misdiagnosed with lumbar spinal stenosis or other diseases, mostly by orthopedic surgeons, even though most patients (85%) had specific symptoms or characteristic neuroimaging findings of spinal DAVFs: they often presented with spastic gait (thoracic myelopathy), progressive ascending numbness that begins in the distal lower extremities (epicous syndrome), and urinary tract symptoms (conus medullaris syndrome); initial lumbar MRI showed T2 signal change in the conus medullaris and vascular flow voids around the cord. The median time from onset to treatment was longer in patients with a misdiagnosis than in those with the correct diagnosis (11 vs 4 months). In all patients, the fistula was completely obliterated by the direct microsurgical procedure; however, patients with a misdiagnosis had developed additional disabilities by the time a correct diagnosis was made (Aminoff-Logue gait grade of 3.6 ± 1.4 vs 2.1 ± 1.5 p = 0.013), and achieved markedly smaller improvements after the treatment (Aminoff-Logue gait grade of 3.0 ± 1.6 vs 1.1 ± 1.5, p = 0.006) than those with the correct diagnosis of spinal DAVFs. CONCLUSIONS: When common spinal stenosis fail to explain the symptoms such as thoracic myelopathy, epiconus syndrome, and conus medullaris syndrome, the possibility of spinal DAVFs should be considered. If lumbar MRI shows conus medullaris lesions, thoracic MRI should be performed to confirm the diagnosis.

Angiographic and Clinical Characteristics of Thoracolumbar Spinal Epidural and Dural Arteriovenous Fistulas.

BACKGROUND AND PURPOSE: The purpose of this study is to compare the angiographic and clinical characteristics of spinal epidural arteriovenous fistulas (SEAVFs) and spinal dural arteriovenous fistulas (SDAVFs) of the thoracolumbar spine. METHODS: A total of 168 cases diagnosed as spinal dural or extradural arteriovenous fistulas of the thoracolumbar spine were collected from 31 centers. Angiography and clinical findings, including symptoms, sex, and history of spinal surgery/trauma, were retrospectively reviewed. Angiographic images were evaluated, with a special interest in spinal levels, feeders, shunt points, a shunted epidural pouch and its location, and drainage pattern, by 6 readers to reach a consensus. RESULTS: The consensus diagnoses by the 6 readers were SDAVFs in 108 cases, SEAVFs in 59 cases, and paravertebral arteriovenous fistulas in 1 case. Twenty-nine of 59 cases (49%) of SEAVFs were incorrectly diagnosed as SDAVFs at the individual centers. The thoracic spine was involved in SDAVFs (87%) more often than SEAVFs (17%). Both types of arteriovenous fistulas were predominant in men (82% and 73%) and frequently showed progressive myelopathy (97% and 92%). A history of spinal injury/surgery was more frequently found in SEAVFs (36%) than in SDAVFs (12%; P=0.001). The shunt points of SDAVFs were medial to the medial interpedicle line in 77%, suggesting that SDAVFs commonly shunt to the bridging vein. All SEAVFs formed an epidural shunted pouch, which was frequently located in the ventral epidural space (88%) and drained into the perimedullary vein (75%), the paravertebral veins (10%), or both (15%). CONCLUSIONS: SDAVFs and SEAVFs showed similar symptoms and male predominance. SDAVFs frequently involve the thoracic spine and shunt into the bridging vein. SEAVFs frequently involve the lumbar spine and form a shunted pouch in the ventral epidural space draining into the perimedullary vein.

Influence of indocyanine green angiography on microsurgical treatment of spinal perimedullary arteriovenous fistulas.

OBJECTIVE: The microvascular anatomy of spinal perimedullary arteriovenous fistulas (AVFs) is more complicated than that of dural AVFs, and occlusion rates of AVF after open microsurgery or endovascular embolization are lower in patients with perimedullary AVFs (29%-70%) than they are in those with dural AVF (97%-98%). Reports of intraoperative blood flow assessment using indocyanine green (ICG) video angiography in spinal arteriovenous lesions have mostly been for spinal dural AVFs. No detailed reports on spinal perimedullary AVFs are available. METHODS: Participants were 11 patients with spinal perimedullary AVFs (Type IVa in 5 patients, Type VIb in 4, and Type IVc in 2). Intraoperative ICG video angiography was assessed by measuring the number of cases in which this modality was judged essential by the surgeon to correctly occlude the fistula. RESULTS: In all patients, arterial feeders were identified and intravenous ICG video angiography was performed before and after blocking the feeders. In one patient, selective intraarterial ICG video angiography was also performed. The findings provided by ICG video angiography significantly changed the surgical procedure in 4 of 11 patients (36%). Postoperatively, complete occlusion of the AVF was achieved in 10 of the 11 patients (91%). CONCLUSIONS: Intraoperative ICG video angiography can have a significant impact on deciding surgical strategy in the microsurgical treatment of spinal perimedullary AVF.

Superficial siderosis complicated by hydrocephalus: bleeding from the dura mater in the cerebrospinal fluid cavity after brain tumor surgery.

BACKGROUND: In most patients with superficial siderosis of the central nervous system, the exact source of bleeding remains unknown and a treatment has not yet been established. METHODS: We herein presented a case of superficial siderosis complicated by hydrocephalus 19 years after supratentorial brain tumor resection. RESULTS: The bleeding source was identified as the dura mater in the intracranial cerebrospinal fluid cavity, and not a recurrent tumor. CONCLUSION: Chronic intracranial bleeding from the dura mater was successfully arrested by replacement of the dura mater with the autologous fascia of the thigh, and hydrocephalus was treated with endoscopic surgery.

Microsurgical resection of an intramedullary glomus arteriovenous malformation in the high cervical spinal cord: retrograde dissection techniques of the nidus located between spinal tracts.

BACKGROUND: Spinal intramedullary arteriovenous malformations (AVMs) fed by an anterior spinal artery are surgically challenging vascular lesions. METHOD: We herein presented microsurgical resection techniques for an intramedullary glomus AVM located in the lateral part of the high cervical spinal cord with an operative video. These techniques included (1) a lateral suboccipital approach via cervical hemilaminectomy in the lateral position; (2) retrograde dissection of the AVM located between the spinal tracts; (3) coagulation and division of multiple narrow sulcal branches of the anterior spinal artery. CONCLUSION: Patients who underwent these techniques achieved good outcomes with minimal bleeding and morbidity.

Communicating syringomyelia associated with ventriculoperitoneal shunt malfunction verified with a cerebrospinal fluid dynamic study: case report.

HISTORY: A 20-year-old male presented with neck pain and motor impairment of the upper extremities because of recurrent syringomyelia caused by ventriculoperitoneal shunt malfunction. EXAMINATION AND OPERATION: A computed tomography scan after shuntgraphy demonstrated opacity in the intracranial ventricular system and cervical syrinx with contrast medium, which indicated communication between the fourth ventricle and syrinx. His symptoms resolved immediately after peritoneal catheter replacement, and magnetic resonance images obtained 1 week after surgery showed the complete resolution of hydrocephalus and syringomyelia. CONCLUSION: Syringomyelia associated with ventriculoparitoneal shunt malfunction is a well-known complication in myelodysplastic patients; however, this is the first case in which communicating syringomyelia was verified with a cerebrospinal fluid dynamic study. As the present case involved communicating syringomyelia, it could only be resolved by shunt revision surgery.

Small Thoracic Disk Herniation without Spinal Stenosis Presenting with Acute Myelopathy: Three Case Reports.

We herein describe three patients with thoracic disk herniation (TDH) that presented with acute myelopathy at the Tokyo Metropolitan Neurological Hospital between 2014 and 2021 (age range, 45-76 years; male/female ratio = 1:2), with a focus on the mechanisms underlying their development. All patients had sudden-onset gait disturbance due to acute nontraumatic paraparesis. The specialties of the doctors at the first hospital were neurology and orthopedic surgery. TDH was overlooked at the first hospital, and the patients were referred to our hospital. The TDH in all cases was of the central type; however, since they were small, no spinal stenosis was observed. The key feature of all three cases is the small anterior deformation of the spinal cord, making a vascular etiology for the symptoms more plausible than a compressive etiology. After a follow-up of several months or years, two out of three patients underwent surgery with the use of the transfacet pedicle-sparing approach due to residual symptoms. Intraoperative ultrasonography showed that the spinal cord was anchored to TDH by the dural attachment of dentate ligaments. The physical relationship between the dentate ligaments and TDH may be associated with the vascular cause of the symptoms of small TDH.

Congestive myelopathy due to craniocervical junction arteriovenous fistulas mimicking transverse myelitis: a multicenter study on 27 cases.

BACKGROUND: The purpose was to clarify diagnostic clues and pitfalls in cranio-cervical junction arteriovenous fistulas (CCJ AVFs) with congestive myelopathy. METHODS: In a multicenter observational study by the Neurospinal Society of Japan, we described the demographics, clinical courses, imaging findings, and outcomes of consecutive patients with CCJ AVFs presenting with congestive myelopathy between 2009 and 2019. RESULTS: Twenty-seven patients were included (mean age, 70 years; male, 96%). Progressive symptoms within one day to one month were more common (63%) than chronic symptoms. Myelopathic symptoms were characterized by ascending paralysis beginning from the legs, involving the trunk and arms, and sometimes ending in the brainstem. Fifteen patients (56%) received a misdiagnosis, including acute transverse myelitis. The most common MRI findings were venous congestive edema of the cervical cord (96%) and the brainstem (63%) and surrounding vascular flow voids (100%). The mean extension of congestive edema was 5.5 ± 2.9 vertebral segments. The most common angiographic findings were a dural AVF (78%) at the C1 level (81%) with descending venous drainage (85%). Seven patients (26%) were administered steroids, which resulted in neurological decline in 3. Neurosurgical obliteration of the AVF led to improvements in MRI findings in 75% and a functional status in 67%; however, 44% remained dependent. CONCLUSIONS: The myelopathy of CCJ AVFs was characterized by acute ascending paralysis in elderly men. A misdiagnosis was common because of the acute presentation due to a longitudinally extensive spinal cord lesion. Dilated vessels on MRI were a key finding for the correct diagnosis. What is already known on this topic? Slowly progressive myelopathy is a well-known symptom that results from impaired spinal venous drainage due to thoracolumbar AVFs. Although cranio-cervical junction arteriovenous fistulas (CCJ AVFs) constitute a treatable cause of congestive myelopathy, detailed information is not currently available due to their rarity. What does this study add? CCJ AVFs often presented with acute ascending myelopathy in elderly men due to a longitudinally extending cervical cord lesion with surrounding flow voids. Steroid pulse therapy was not effective or even harmful to congestive myelopathy, while neurosurgical treatment effectively obliterated AVFs. How might this study affect research, practice or policy? The results obtained revealed diagnostic clues and pitfalls from the largest dataset of patients with CCJ AVFs in a multicenter cohort.

Surgical and Endovascular Treatments for Asymptomatic Arteriovenous Fistulas at the Craniocervical Junction: A Multicenter Study.

OBJECTIVE: Asymptomatic craniocervical junction arteriovenous fistulas (CCJ AVFs) are rare and, thus, a consensus has not yet been reached regarding the indication of surgical interventions. This retrospective multicenter cohort study investigated the risks associated with surgery for asymptomatic CCJ AVFs and discussed the indication of surgical interventions. METHODS: Using data from 111 consecutive patients with CCJ AVFs registered with the Neurospinal Society of Japan between 2009 and 2019, we analyzed the treatment, complications, and outcomes of 18 patients with asymptomatic CCJ AVF. RESULTS: The median age of the patient cohort was 68 years (37-80 years), and there were 11 males and 7 females. Diagnoses were 14 patients with dural AVF, one perimedullary AVF, one radicular AVF, one epidural AVF, and one bilateral dural and epidural AVF. Initial treatment included direct surgery in 12 patients, endovascular treatment in four, and conservative treatment in two. Among 16 patients, three complications (18.7%) occurred: spinal cord infarction associated with the surgical procedure, cerebral infarction associated with intraoperative angiography, and mortal medullary hemorrhage after endovascular treatment followed by open surgery. Complete occlusion was achieved in all 12 patients in the direct surgery group and in one out of four in the endovascular treatment group. CONCLUSIONS: Given the risk of serious complications associated with asymptomatic CCJ AVF and the fact that no case of asymptomatic CCJ AVF became symptomatic in this study, prophylactic surgery for asymptomatic CCJ AVF should be carefully considered.

Spinal Cord Subependymoma: A Subanalysis of the Neurospinal Society of Japan's Multicenter Study of Intramedullary Spinal Cord Tumors.

OBJECTIVE: This study aimed to analyze the clinical characteristics, treatment strategies, and surgical outcomes of subependymoma patients from the 2022 Neurospinal Society of Japan multicenter intramedullary spinal cord tumor study. METHODS: Twenty-six patients with spinal cord subependymoma who were included in the index study of 1,033 patients were retrospectively analyzed. RESULTS: Mean patient age was 49.4 years. Seventeen patients were men and 9 were women. Sensory disturbance was reported in 22 patients and motor weakness in 18. Median duration of symptoms was 24 months. The tumor was eccentrically located in 19 patients (73.1%) and unilateral in 17 (65.4%). Gross total resection was achieved in 6 patients (23.1%). The same rate for ependymoma patients in the index study was significantly higher (74.8%). Median follow-up was 40.5 months (interquartile range, 18-68 months). In 2 patients who underwent only partial resection, reoperation was required owing to progression 68 and 90 months after surgery, respectively. No recurrence occurred in patients who underwent gross total resection. Five patients experienced neurological worsening after surgery. CONCLUSION: Although spinal cord subependymoma can be difficult to distinguish from other intramedullary spinal cord lesions before surgery, it is characterized by an indolent clinical course and eccentric location. Surgical treatment should prioritize functional preservation because the prognosis is good even after subtotal resection.

Comparative analysis of spinal extradural arteriovenous fistulas with or without intradural venous drainage: a systematic literature review.

OBJECT: Spinal arteriovenous malformations (AVMs) are classified into types according to anatomical characteristics: dural arteriovenous fistulas (AVFs), intramedullary AVMs, perimedullary AVFs, and extradural AVFs. Spinal extradural AVFs are much rarer than other types of spinal AVMs, and the available literature on this clinical entity has been based only on case reports or small case series. To investigate the clinical characteristics of patients with spinal extradural AVFs, the authors systematically reviewed the associated literature in the MRI era. METHODS: The PubMed database was searched for all relevant English-language case reports and case series published from 1990 to 2011. The clinical differences between Type A with and Type B without intradural venous drainage were statistically compared, especially regarding clinical features and angiographic and MRI findings. RESULTS: Forty-five cases of spinal extradural AVFs were found. Type A spinal extradural AVFs were diagnosed in patients with a significantly older age (mean 63.5 years) as compared with Type B AVFs (mean 34.3 years, p < 0.0001). Most cases of Type A spinal extradural AVFs exhibited a diffuse high signal intensity of the spinal cord on T2-weighted MR images and no mass effect (p < 0.0001), and they commonly occurred in the thoracolumbar and lumbar regions (p < 0.0001). On the other hand, cases of Type B lesions exhibited a normal signal intensity of the cord with severe mass effect due to an enlarged extradural venous plexus, and they commonly occurred in the cervical and upper thoracic regions (p < 0.0001), frequently in patients with neurofibromatosis Type 1 (p = 0.049). Because Type B AVFs consisted of high-flow, multiple complex anastomoses between arteries and the epidural venous plexus, patients with these lesions tended to undergo multisession treatments, and the rate of partial AVF occlusion was significantly higher than for Type A AVFs (p = 0.018), although there was no difference in symptom outcomes between the 2 groups. CONCLUSIONS: To the best of the authors' knowledge, a comparative analysis of the clinical differences in patients with extradural AVFs with or without intradural venous drainage has yet to be described in the literature. They concluded that in the diagnosis of spinal extradural AVF, evaluation of intradural venous drainage is important because the cause of myelopathy determines the treatment goals.

Sacral myolipoma with involuntary contraction causing tethered cord syndrome: illustrative case.

BACKGROUND: Spinal lipomas sometimes involve various ectopic tissues originating from the ectoderm, mesoderm, and endoderm in the process of morphological development. OBSERVATIONS: A 29-year-old male patient with myolipoma of the conus medullaris at the S2 and S3 levels was described. The unusual finding, involuntary muscle contraction, was presented in an operative video and a literature review. In the present case, sacral myolipoma with involuntary contraction caused tethered cord syndrome in adulthood, and untethering surgery resolved continuous buttock and leg pain. LESSONS: This rare finding is considered a surgical indication for adult patients with myolipoma.

Ischemic complications in the neurosurgical and endovascular treatments of craniocervical junction arteriovenous fistulas: a multicenter study.

OBJECTIVE: A recent comparative analysis between neurosurgical and endovascular treatments for craniocervical junction (CCJ) arteriovenous fistulas (AVFs) revealed better treatment outcomes in the neurosurgery group than in the endovascular group. This finding was attributed to the higher than expected rate of ischemic complications in the endovascular group than in the neurosurgery group (26% vs 7.7%, p = 0.037). The aim of the present study was to describe ischemic complications associated with treatments for CCJ AVFs. METHODS: This descriptive study was authorized by the Neurospinal Society of Japan. Data from 97 consecutive patients with CCJ AVFs who underwent neurosurgical (n = 78) or endovascular (n = 19) treatment between 2009 and 2019 were collected from 29 centers. The primary endpoints were details on ischemic complications and their risk factors. Secondary endpoints were details on other complications. RESULTS: Among all major complications, ischemic complications were the most common (11% of 97 patients), followed by hemorrhagic complications (7.2%), hydrocephalus (2.1%), and CSF leakage (2.1%). Ischemic complications included 8 spinal, 2 brainstem, and 1 cerebellar infarctions. Iatrogenic occlusion of the anterior or posterior spinal artery from the radiculomedullary or radiculopial arteries caused these complications. Ischemic complications resulted in neurological deficits, including motor paresis, sensory disturbances, and brainstem dysfunction. The modified Rankin Scale score was 3 or higher in 36% of patients with ischemic complications at the final follow-up of 23 months. Risk factors associated with ischemic complications were endovascular treatment (OR 4.3, 95% CI 1.1-16) and spinal feeding arteries (OR 3.8, 95% CI 1.03-14). Most of the other complications were addressed by additional treatment without permanent neurological deficits. CONCLUSIONS: Among ischemic complications associated with treatments for CCJ AVFs, spinal infarctions were the most common and were mostly attributed to endovascular procedures for CCJ AVFs fed by spinal arteries. These results support the use of neurosurgery as the first-line treatment for CCJ AVFs.

Spontaneous regression of germinoma in the pineal region before endoscopic surgery: a pitfall of modern strategy for pineal germ cell tumors.

Since its introduction in the neurosurgical field, neuroendoscopy has played an important role in the treatment of pineal germ cell tumors. The authors report a case of pineal germinoma revealing spontaneous regression before neuroendoscopic surgery. A 15-year-old boy presented with chronic headache, deterioration of his visual acuity, and diplopia. Head magnetic resonance imaging (MRI) revealed a large tumor in the pineal region and triventricular hydrocephalus due to occlusion of the aqueduct. As levels of tumor markers in serum and cerebrospinal fluid, including those of alpha-fetoprotein, carcinoembryonic antigen, human chorionic gonadotropin (hCG), and the beta-subunit of hCG, were all within the normal ranges, endoscopic surgery for biopsy and third ventriculocisternostomy was performed. Under endoscopic view, the tumor was revealed to be smaller than expected from preoperative images. MRI obtained 14 days after admission disclosed marked shrinkage of the tumor. The histopathological diagnosis was pure germinoma, and the patient underwent chemotherapy combined with fractionated radiotherapy. The tumor disappeared, and the patient did not show any signs of relapse. Spontaneous regression is a very rare phenomenon in malignant brain tumors, and in the literature it has been uncommonly described in pineal germ cell tumors. Our case disclosed a pitfall of modern strategy for this pathology with neuroendoscopy. Dilated ventricles and a certain amount of lesion are factors for safe endoscopic biopsy of pineal tumors. Radiographic images shortly before surgery are warranted, especially in patients whose symptoms of intracranial hypertension have already improved before surgery.

Superficial siderosis of the central nervous system associated with ventral dural defects: bleeding from the epidural venous plexus.

OBJECTIVE: Superficial siderosis of the central nervous system is a rare intractable disease induced by chronic subarachnoid hemorrhage. Neurological deficits, such as cerebellar ataxia and hearing difficulties, gradually progress if left undiagnosed. Hemosiderin deposition is irreversible because standard medical treatment has not yet been established. Interventions at the source of bleeding may be the key to a preferable outcome of treatment for chronic subarachnoid hemorrhage; however, the source is not clear in many cases. METHODS: Among the consecutive cases diagnosed with a spontaneous cerebrospinal fluid (CSF) leak, cases of superficial siderosis associated with a CSF leak due to a ventral dural defect were retrospectively analyzed. RESULTS: Among 77 cases of a CSF leak, 7 cases (9%) of superficial siderosis were identified (median age of 59 years, male, 4 cases). Defects were diagnosed on 1-mm sliced fast imaging employing steady-state acquisition MRI (n = 5), conventional myelographic CT (n = 1), or dynamic myelographic CT (n = 1) at high thoracic levels (T1-T4). All defects were repaired by direct neurosurgery. During surgery, continuous bleeding from the epidural veins of the internal vertebral venous plexus was identified as the source of subarachnoid hemorrhage. Epidural CSF pulsations through the defect prevented clot formation by the epidural veins. Dural repair stopped free communication between the subarachnoid and epidural spaces, leading to the disappearance of chronic subarachnoid hemorrhage. CONCLUSION: Bleeding from the epidural venous plexus may be the cause of superficial siderosis associated with ventral dural defects. Neurosurgical repair may stop the progression of this condition.