Walking-Evoked Erection in Patients with Lumbar Degenerative Diseases: Eight Cases and Review of the Literature.

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.

Successful Mechanical Thrombectomy for Subocclusive Thrombus at the Origin of Lenticulostriate Artery.

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.

[A Case of Segmental Arterial Mediolysis:Subarachnoid Hemorrhage Followed by Abdominal Bleeding].

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.

Nonspastic hemifacial spasm confirmed by abnormal muscle responses.

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.

Primary Intracranial Malignant Melanoma with Extracranial Metastasis.

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.

Clinical Predictors of Intracranial Injuries in Infants with Minor Head Trauma.

OBJECTIVE: 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. METHODS: Between 2006 and 2013, we retrospectively enrolled infants <11 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. RESULTS: 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 a >60 cm height, 1 in 197 with fall height >30 cm, and none in 44 with fall height ≤30 cm (P = 0.0001); 1 of 2 with scalp hematomas >6 cm, 10 of 35 with hematomas >3 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. CONCLUSIONS: 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.

Exome Sequencing Identified CCER2 as a Novel Candidate Gene for Moyamoya Disease.

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.

KRIT1 mutations in three Japanese pedigrees with hereditary cavernous malformation.

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.

Association of Rare Nonsynonymous Variants in PKD1 and PKD2 with Familial Intracranial Aneurysms in a Japanese Population.

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.

Prognostic Assessment of Aneurysmal Subarachnoid Patients with WFNS Grade V by CT Perfusion on Arrival.

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 <6.385 seconds did achieve a favorable outcome (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.

Systematic Validation of RNF213 Coding Variants in Japanese Patients With Moyamoya Disease.

BACKGROUND: A founder variant of RNF213, p.R4810K (c.14429G>A, rs112735431), was recently identified as a major genetic risk factor for moyamoya disease (MMD) in Japan. Although the association of p.R4810K was reported to be highly significant and reproducible, the disease susceptibility of other RNF213 variants remains largely unknown. In the present study, we systematically evaluated the coding variants detected in Japanese patients and controls for associations with MMD. METHODS AND RESULTS: To detect variants of RNF213, all coding exons were sequenced in 27 Japanese MMD patients without p.R4810K. We also validated all previously reported variants in our case-control samples and tested for associations in combination with previous Japanese study cohorts, including the 1000 Genomes Project data set, as population-based controls. Forty-six missense variants other than p.R4810K were identified among 370 combined patients and 279 combined controls in Japan. Sixteen of 46 variants were polymorphisms with minor allele frequency >1%, and, after conditioning on the p.R4810K genotype, were not associated with MMD. We conducted a variable threshold test using Combined Annotation-Dependent Depletion on the remaining 30 rare variants (minor allele frequency <1%), and the results showed that the frequency of potentially functional variants was significantly higher in patients than in controls (permutation, minimum P=0.045). CONCLUSIONS: Not only p.4810K but also other functional missense variants of RNF213 conferred susceptibility to MMD. Our analysis also revealed that ≈20% of Japanese MMD patients did not harbor susceptibility variants of RNF213, indicating the presence of other susceptibility genes for MMD.

[Clinical features of bilateral trigeminal neuralgia].

Among 238 patients with bilateral trigeminal neuralgia(TN)who visited our hospital between April 2007 and June 2014, 5(2%)were surgically treated by microvascular decompression(MVD). The initial symptom was on the right side in four and on both sides in one patient. Intervals between the initial and second onset on the other side(left)were two months, and four, six, and eight years. None of the patients showed involvement of the first branch of the trigeminal nerve. The patients with bilateral TN were younger than the 154 patients with unilateral TN who were treated surgically by MVD in this period(45 vs. 65 years), and the bilateral TN patients predominantly were women(4/5 vs. 99/154). In the surgical field, the trigeminal nerve and root entry zone were compressed more by veins in the bi lateral TN patients than in the unilateral TN(4/5 vs. 60/154, respectively)patients. We could not identify any differences in MRI CISS before versus after the onset of left trigeminal neuralgia, suggesting that compression is not the sole cause of the symptom.

[Immediate improvement of ischemic oculopathy after stenting for internal carotid artery stenosis].

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.

[Trigeminal neuralgia caused by cerebellopontine angle lipoma:a case report and review of the literature].

A 59-year-old man presented with right trigeminal neuralgia of the second branch, which had been treated with carbamazepine. The pain could not be controlled adequately because of side effects. CT and MRI revealed a 2-cm lesion in the right cerebellopontine angle. Retrosigmoid lateral suboccipital craniectomy was performed, and a soft yellowish mass was found to be associated with the 5th, 7th, and 8th cranial nerves, anterior inferior cerebellar artery, and small vessels. The lipoma was partially resected from around the root entry zone(REZ)of the 5th nerve and small vessels were coagulated around the REZ. After surgery, there was no trigeminal neuralgia, but facial numbness and cerebellar signs were noted. Postoperative MRI showed decompression of the trigeminal nerve and venous infarction in the middle cerebellar peduncle. Reviewing similar cases, we found 19 lipoma patients presenting with trigeminal neuralgia. Symptoms of involvement of other cranial nerves were also present in 11 patients, and 14 were younger than 30 years old. Of 17 surgical cases, total resection was not attempted apart from one case. Although pain relief was achieved in all surgical cases, complications developed in 11. Surgery should be performed only in patients with disabling and uncontrolled symptoms.

[A case of acute aortic dissection presenting with cerebral ischemic symptoms: utility of 3D CT angiography and CT perfusion for the diagnosis of acute stroke].

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.

Spontaneous regression together with increased calcification of incidental meningioma.

BACKGROUND: Regression of meningioma has been reported after hemorrhage or hormonal withdrawal. However, meningioma regression is rarely observed spontaneously. CASE DESCRIPTION: A right falx meningioma was incidentally diagnosed and was followed at every one-year by magnetic resonance imaging (MRI) for over 7 years. The tumor, with a maximum diameter of 4 cm, showed a slightly high density and was enhanced on computed tomography (CT), and a high intensity with a low-intensity core on T2 MRI, with significant edema. The meningioma gradually shrank together with a decrease of edema and increase of calcification. The initial volume, 25.5 cm(3), regressed linearly to less than half, 9.9 cm(3). CONCLUSION: Here, we report a case of an incidentally diagnosed meningioma that regressed spontaneously. The pattern of the regression was similar to that following gamma knife radiosurgery.

Sensitivity of CT perfusion for the diagnosis of cerebral infarction.

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.

[A case of cavernous sinus epidermoid: anatomical classification and surgical approach].

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.