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Study Design: Narrative review with a case illustration.Purpose: The purpose of this study was to evaluate the pathogenesis and outcome of therapy for walking-evoked erection in patients with lumbar degenerative diseases.Overview of Literature: Cauda equina compression due to lumbar degenerative diseases rarely cause a walking-evoked erection; however, no review has been undertaken of walking-evoked erection in patients with lumbar degenerative diseases.Methods: A total of 1,570 male patients with lumbar degenerative diseases, who underwent surgery between April 2003 and June 2017, were evaluated; from these patients, participants with walking-evoked erection were selected. Preoperative clinical data of walking-evoked erection, paresthesia, and bladder and bowel function were assessed. In our study, the neurological status and the erectile function of each participant were retrospectively evaluated before and after surgery using the Japanese Orthopedic Association score and the Overactive Bladder Symptom Score.Results: Among the 1,570 male patients screened in our department, eight patients (0.51%, 8/1,570) presented with walking-evoked erection accompanied by cauda equina symptoms. In six of the patients, the erectile symptoms were associated with paresthesia in the genitalia or perianal region. Of the six patients evaluated for bladder dysfunction, all were diagnosed with prostatic hyperplasia, while four were diagnosed with an overactive bladder. In all patients, walking-evoked erection disappeared entirely after surgery.Conclusions: This study comprises the first review of walking-evoked erection in patients with lumbar degenerative diseases. We speculate that sensory input, such as paresthesia in the genitalia or perianal region stimulates the pelvic or perineal nerves through the pudendal nerve and induces reflexogenic erections.

Optimal treatment of patients with intracranial subocclusive thrombus remains unclear. Such a rare case successfully managed with endovascular mechanical thrombectomy is presented. A 71-year-old man experienced a sudden onset of dysarthria and motor deficits. At the time of admission his National Institutes of Health Stroke Scale (NIHSS) score was 4. DWI demonstrated incomplete infarction within the left lenticulostriate artery (LSA) territory, MRA showed partial flow defect in the distal left M1 segment and non-visualization of the LSA, and ECG revealed atrial fibrillation, thus ischemic stroke caused by cardiogenic embolism was diagnosed. Tissue plasminogen activator was administered, but symptoms progressed and NIHSS score increased up to 8. Diagnostic angiogrpahy confirmed presence of the subocclusive thrombus within the distal left M1 segment and complete occlusion of LSA at its origin. Since conservative therapy was ineffective, mechanical thrombectomy utilizing ADAPT (a direct aspiration first-pass thrombectomy) technique was performed resulting in compete recanalization of the LSA accompanied by the prompt regress of neurological symptoms. Eventally, the patient demonstrated nearly full recovery (modified Rankin Scale score 1). Thus, mechanical thrombectomy should be considered as a reasonable option in cases of acute cerebral stroke caused by subocclusive thrombus and progressive neurological deficits despite standard conservative therapy. J. Med. Invest. 67 : 372-374, August, 2020.

Minor head trauma is common in children. Although most cases are nonsignificant, minor head trauma can lead to preventable intracranial injuries. The aim of this study was to identify clinical predictors of intracranial injuries in infants with minor head trauma.Between 2006 and 2013, we retrospectively enrolled infants11 months old with minor head trauma. Data recorded included age, sex, cause of trauma, fall height, vomiting, bad temper, size and location of scalp hematoma, fracture, and intracranial injuries on computed tomography.Of 549 enrolled infants, 15 (3%) sustained traumatic intracranial injuries: epidural hematoma in 7, subarachnoid hemorrhage in 4, subdural hematoma in 3, and cerebral contusion in 1. Intracranial injuries were found in 8 of 98 infants who had fallen from a60 cm height, 1 in 197 with fall height30 cm, and none in 44 with fall height ≤30 cm (P = 0.0001); 1 of 2 with scalp hematomas6 cm, 10 of 35 with hematomas3 cm, and 2 of 121 with hematomas ≤3 cm (P = 0.0001); and 9 of 28 with temporal hematoma, 2 of 15 with parietal hematoma, 2 of 22 with occipital hematoma, and none of 98 with frontal hematoma (P = 0.0001). Logistic regression analysis showed that scalp hematoma was related to intracranial injuries (hazard ratio = 21.127, P = 0.0001), whereas age, sex, fall, vomiting, and bad temper were not.Fall height and size and location of scalp hematoma were associated with intracranial injuries. These factors should be considered when making decisions on radiologic examinations of infants with minor head trauma.

We describe a case involving subarachnoid and intraperitoneal hemorrhage due to segmental arterial mediolysis(SAM). A 77-year-old female patient with sudden subarachnoid hemorrhage was immediately transferred to our institution. The hemorrhage was classified as grade 2 according to the World Federation of Neurosurgical Societies system. The patient was a non-smoker and did not drink alcohol regularly. A right internal carotid aneurysm was detected using CT angiography and was clipped during frontotemporal craniotomy. Bleeding was observed from the anterior wall of the internal carotid artery, and the tear was clipped. The patient had an uneventful postoperative course until sudden cardiopulmonary arrest eight days after craniotomy. She died of massive intraperitoneal hemorrhage. Autopsy revealed that the hemorrhage was due to dissection of the celiac artery. Tunica media denaturation was observed not only in the celiac artery, but also in the splenic and internal carotid arteries, which exhibited ruptured aneurysms, and the patient was diagnosed with segmental arterial mediolysis(SAM). SAM is an arterial degenerative disease affecting the medial layer of the arterial and dissecting walls. Multiple lesions are sometimes found. Radiographic imaging findings of SAM are similar to those of dissecting aneurysms, which are characterized by a single continuous dissection of the medial layer. As observed in this case, abdominal bleeding caused by SAM can occur after intracranial bleeding. When surgeons encounter unusual intracranial dissecting aneurysms, SAM should be considered as a differential diagnosis.

Background Autosomal dominant polycystic kidney disease (ADPKD) caused by deleterious mutations in PKD1 (16p13.3) and PKD2 (4q21) often coexists with intracranial aneurysms (IAs). In this study, we investigated whether IAs without obvious renal diseases were also associated with these ADPKD genes. Methods We performed next-generation sequencing of the ADPKD genes in 150 Japanese familial IA patients and age- and sex-matched 150 non-IA controls without obvious renal diseases. Rare coding variants for the following association analysis were defined according to allelic frequencies of less than .5% either in our controls or in the 1000 genomes database. Association with IA was evaluated using burden and variance component methods: the weighted-sum statistic (WSS) and the sequence kernel association test (SKAT), respectively. Results A total of 44 rare candidate variants were confirmed by Sanger sequencing; 26 were identified from 33 patients, whereas 21 were identified from 20 controls. The candidate variants were all missense variants, except for 1 patient's nonsense variant (p.Q924X) in PKD2 , and showed consistent association with IA in both burden and variance component tests (odds ratio [OR] = 1.80; WSS, P = .026; SKAT, P = .044). This association was largely derived from the variants found in the extracellular structural domains of PKD1 (OR = 2.06; WSS, P = .030; SKAT, P = .029). Conclusion ADPKD genes are susceptibility genes for IA even in patients without ADPKD.

We report a case of primary intracranial malignant melanoma (PIMM) with extracranial metastases. The patient was an 82-year-old woman diagnosed with PIMM under the left cerebellar tentorium. We performed a tumor resection followed by gamma knife surgery. An magnetic resonance imaging at 11 months after surgery showed a local intracranial recurrence. At 12 months, vertebral metastasis was suspected, and 2-[fluorine-18]-fluoro-2-deoxy-D-glucose positron emission tomography/computed tomography (FDG-PET/CT) showed multiple extracranial metastases. She died at 13 months after surgery. Although extracranial metastases of PIMM are extremely rare, we should carefully follow up extracranial metastases together with intracranial ones, especially by FDG-PET/CT, even at an early asymptomatic stage.

Background Hemifacial spasm is usually diagnosed by inspection which mainly identifies involuntary movements of orbicularis oculi. Assessing abnormal muscle responses (AMR) is another diagnostic method. Case description We report a case of left hemifacial spasm without detectable involuntary facial movements. The patient was a 48-year-old man with a long history of subjective left facial twitching. On magnetic resonance imaging (MRI), the left VIIth cranial nerve was compressed by the left anterior inferior cerebellar artery (AICA), which was in turn compressed by the left vertebral artery. We initially treated him with botulinum toxin. We were able to record AMR, and hemifacial spasm occurred after AMR stimulation, although no spasm was detectable by inspection. Subsequently, we performed microvascular decompression with transposition of the AICA that compressed the VIIth cranial nerve. His hemifacial spasm resolved by 5 weeks after surgery and was not induced by AMR stimulation. Conclusion Hemifacial spasm can sometimes be diagnosed by detecting AMR rather than by visual inspection. We propose that such hemifacial spasm should be termed nonspastic hemifacial spasm.

We aimed to determine the sensitivity of CT perfusion (CTP) for the diagnosis of cerebral infarction in the acute stage. We retrospectively reviewed patients with ischemic stroke who underwent brain CTP on arrival and MRI-diffusion weighted image (DWI) after hospitalization between October 2008 and October 2011. Final diagnosis was made from MRI-DWI findings and 87 patients were identified. Fifty-five out of 87 patients (63%) could be diagnosed with cerebral infarction by initial CTP. The sensitivity depends on the area size (s): 29% for S < 3 cm(2), 83% for S ≥ 3 cm(2) - < 6 cm(2), 88% for S ≥ 6 cm(2) - < 9 cm(2), 80% for S ≥ 9 cm(2) - < 12 cm(2), and 96% for S ≥ 12 cm(2) (p < 0.001). Sensitivity depends on the type of infarction: 0% for lacunar, 74% for atherothrombotic, and 92% for cardioembolism (p < 0.001). Sensitivity is not correlated with hours after onset. CT perfusion is an effective imaging modality for the diagnosis and treatment decisions for acute stroke, particularly more serious strokes.

Cerebral cavernous malformation is a neurovascular abnormality that can cause seizures, focal neurological deficits and intracerebral hemorrhage. Familial forms of this condition are characterized by de novo formation of multiple lesions and are autosomal-dominantly inherited via CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10 mutations. We identified three truncating mutations in KRIT1 from three Japanese families with CCMs: a novel frameshift mutation, a known frameshift mutation and a known splice-site mutation that had not been previously analyzed for aberrant splicing.

The etiology of Moyamoya disease (MMD) is still largely unclear, despite identification of RNF213 as the most significant susceptibility gene in East Asian patients. Following up our previous study confirming genetic heterogeneity in Japanese patients with MMD, we extensively surveyed novel candidate genes for a new perspective on the etiology of this disease. Two characteristic pedigrees without susceptibility variants in RNF213 were selected for whole-exome sequencing; 1 harbored 3 affected members, and the other included discordant monozygotic twins. In the former pedigree, 12 rare mutations in 12 genes were co-segregated with MMD. One of the most deleterious amino acid changes among these was p.T76_G80delinsPS in CCER2 , which was also mutated in the latter pedigree (p.E242K), although the unaffected twin sister shared the same mutation reflecting reduced penetrance. These CCER2 mutations were predicted to promote aggregation or oligomerization of their protein product, using in silico functional analysis. Subsequent CCER2 re-sequencing in an additional 135 MMD probands identified 1 recurrent and an additional 2 in-frame insertion–deletion mutations, recurrent p.T76_G80delinsPS, p.H218_H220del, and p.E299del. Although CCER2 molecular function is not well characterized, it is a secretory protein expressed in the brain; therefore, it constitutes a potential biomarker of MMD.

Background The prognosis of patients with aneurysmal subarachnoid hemorrhage (aSAH) depends on their condition on arrival at the hospital. However, a small number of patients recover from an initially poor condition. We investigated the correlation between quantitative measures of computed tomography (CT) perfusion (CTP) on arrival and the outcomes of patients with World Federation of Neurosurgical Society (WFNS) grade V aSAH. Methods We performed plain CT, CTP, and CT angiography (CTA) in all patients with aSAH on arrival. Aneurysms were surgically obliterated in patients with stable vital signs and the presence of a brain stem response. We measured the average mean transit time (aMTT) and compared it with the modified Rankin Scale (mRS) score at 1 month. Regions of interest were identified as 24 areas in the bilateral anterior, middle, and posterior cerebral artery territories and 2 areas in the basal ganglia. Results A total of 57 patients were treated between 2007 and 2014. None of the 21 patients with aMTT >6.385 seconds achieved a favorable outcome, whereas 8 of the 36 patients with aMTT P = 0.015). Furthermore, comparing the number of areas showing a mean transit time (MTT) >7.0 seconds among the aforementioned 8 areas and mRS, favorable outcomes were not seen in 24 patients with more than 2 such areas ( P = 0.009). Conclusion We cannot expect a favorable outcome for patients with WFNS grade V aSAH with aMTT >6.385 seconds or more than 2 of 8 areas with MTT >7.0 seconds.

Ocular ischemic syndrome occurs when ocular circulation becomes impaired owing to various causes, leading to disturbances in the visual function. It ultimately progresses to neovascular glaucoma and loss of sight. Therefore, the early diagnosis and treatment of patients with ocular ischemic syndrome has a major effect on their visual prognosis. Herein, we describe a patient who complained of decreased vision in one eye. The patient was subsequently diagnosed with internal carotid artery stenosis because of neovascularity (rubeosis iridis) around the iris in the anterior eye. The vision of the patient improved immediately after carotid artery stenting. A review of the literature indicated that the visual improvement could be attributed to the reversal of retrograde blood flow, caused by internal carotid artery stenosis, to normal levels; the resolution of rubeosis in the anterior eye; and improvement in the visual field constriction.

A 76-year-old woman presented at our hospital complaining of loss of consciousness, dysarthria, and upper extremity paresis. Head CT showed no remarkable findings. 3D CT angiography (CTA) and CT perfusion (CTP) revealed acute aortic dissection (AAD) involving the innominate artery and decreased cerebral blood flow in the right cerebral hemisphere, although there were no clinical signs of AAD. The patient underwent emergency allograft replacement performed by cardiovascular surgeons. The symptoms disappeared within several days and no cerebral infarction developed. Although patients with AAD and neurological symptoms can show a fatal course when they receive tissue plasminogen activator (tPA), it is difficult to exclude patient with AAD as candidates for tPA treatment. Routine use of 3D CTA and CTP in the diagnosis of acute stroke may help overcome the above problem.

Epidermoid rarely appears in the cavernous sinus. We encountered a 41-year-old man with left abducens nerve palsy. A round-shaped, low-density lesion on CT was located lateral to the left cavernous sinus with a compressed and thinned lateral wall of the sphenoid sinus. We could not identify cranial nerves in the cavernous sinus, which was found to be packed with a non-enhanced, high-intensity tumor on both T1 and T2 MRI. Part of the tumor capsule and its pearly contents were removed with an intradural subtemporal approach, and an inner membranous layer with cranial nerves and a tumor capsule were seen at the bottom of the tumor cavity. Postoperatively, complete cure was achieved. Reviewing similar cases, we found 18 cavernous sinus epidermoids:extracavernous type in 5;interdural in 10;and intracavernous in 3. The interdural type could be further divided into two subtypes:superficial cavernous sinus and inner membranous types. The present case belongs to the former. Frontotemporal and subtemporal procedures via both intra- and extradural approaches are relatively safe for lesions except for the intracavernous type, because cranial nerves are not located in the lateral wall of the tumor. MRI provides more useful information on cranial nerves and aid in choosing a better treatment strategy.

The endoscopic treatment of a suprasellar arachnoid cyst (SAC) consists mainly of ventriculocystostomy (VC) and ventriculocystocisternostomy (VCC). However, the most appropriate treatment for these cysts has not been fully determined yet. The authors report on the effectiveness of endoscopic VC for SACs communicating with the basal cisterns, which is demonstrated by preoperative CT cisternography.The authors retrospectively analyzed the surgical results of patients with an SAC treated using endoscopic fenestration. The patient charts were reviewed for demographic data, clinical presentations, surgical therapies, and clinical outcomes.Six consecutive patients with SAC were surgically treated using endoscopic fenestration (VC or VCC) between March 2004 and February 2011. The mean age was 18.5 months (range 5 days to 37 months). Five patients were previously untreated, and 1 patient had previously undergone ventriculoperitoneal shunt placement. Five patients underwent preoperative CT cisternography, and communication between the SAC and the basal cisterns was demonstrated in 3 patients, very slight communication in 1, and no communication in 1. Four patients, including the 3 with communication between the SAC and basal cisterns, underwent VC. Two patients with very slight or no communication underwent VCC. In all patients the SAC decreased in size and hydrocephalus improved postoperatively. Five patients (3 treated with VC and 2 with VCC [83%]) have been stable without reoperation (mean follow-up 32.7 months). All 3 patients with an SAC communicating with the basal cisterns have been stable without reoperation following VC.Preoperative cisternography may be useful for selecting the optimal endoscopic treatment method for SAC. If an SAC communicates with the basal cisterns, a VC could be an effective, safe, and simpler treatment option.

We report a case of gangliocytoma at a cortical and subcortical area in the right parietal lobe. The patient had a generalized seizure at 11 years of age. The MRI shows an ill-demarcated high intensity area in T2 weighted images including an enhancing tumor of 10 mm in diameter. At first, the tumor was carefully followed up because of its small size and the surgical risk. Three years after the onset, a cyst formed at the area of the brain edema adjacent to the tumor. The cyst gradually grew to 21 mm in diameter, the edema had disappeared, and the size of the tumor became smaller (7 mm) within the next 3 years. A mural nodule, jelly-like tumor with calcification was totally removed and diagnosed as gangliocytoma. The cyst fluid was watery-clear, its wall did not contain any tumor. This is the first report of a six-year follow-up of cyst formation of gangliocytoma supporting the concept that edema is a precursor to central nervous system peritumoral cyst formation based on the similar observation of hemangioblastomas.

This study evaluated the clinical and angiographic outcome of large aneurysms treated with coil embolization at an acute stage in patients with poor-grade subarachnoid hemorrhage (SAH). Between July 1, 2001 and June 30, 2004, eight consecutive WFNS grade 5 patients with large aneurysms (15!23mm) were treated with endovascular coil embolization within two days and followed for at least 30 months. There were three middle cerebral and five internal carotid artery aneurysms. No patients were treated by craniotomy and none survived without treatment. Two patients died of primary brain damage or cerebral vasospasm within one month. One patient died of pneumonia at 24 months. Four patients were alive with good recovery or moderate disability at the time of final follow-up (30!66 months). Angiography immediately after the procedure showed complete occlusion in three, neck remnant in four, and body filling in one patient. No complication was seen related to the procedure. Three aneurysms that were initially neck remnant developed body filling due to coil compaction. Two were re-treated with coils at six and 12 months and resulted in neck remnant. One patient refused re-treatment and died of re-bleeding. Endovascular coil embolization can be selected at an acute stage for the treatment of aneurysms in patients with poor-grade SAH without intraparenchymal hematoma even if the aneurysm is large. Serial follow up by MRA/angiography is necessary for at least 12 months.