Reliability of PainDETECT for Evaluating Low Back Pain Caused by Cluneal Nerve Entrapment.

BACKGROUND: Superior/middle cluneal nerve entrapment (CN-E) is an elicitor of low back pain (LBP). The painDETECT questionnaire is used to characterize CN-E symptoms. METHODS: Nineteen consecutive patients with LBP caused by CN-E (superior CN-E = 7; middle CN-E = 12) participated in a Japanese language painDETECT questionnaire survey before surgery. A score of 12 or lower was recorded as 'neuropathic component unlikely', a score of 19 or higher as 'neuropathic pain likely', and scores between 13 and 18 as 'neuropathic pain possible'. LBP severity was recorded on a numerical rating scale, the Roland-Morris Disability Questionnaire, and the EuroQol-5 dimension-5 level. RESULTS: The mean painDETECT score was 11.8 and did not significantly differ between the superior CN-E and middle CN-E groups. We classified low back pain as unlikely to have a neuropathic component in 13 patients, as likely to have a neuropathic component in 2 patients, and as possibly neuropathic in 4 patients. There was no significant difference in the pain level of patients with scores of ≤12 and ≥13 on painDETECT. All patients reported trigger pain; the positive rate was high for electric shock pain, radiating pain, and pain attacks and low for a burning or tingling sensation, pain elicited by a light touch, and pain caused by cold or hot stimulation. CONCLUSION: The painDETECT questionnaire may not reliably identify LBP caused by superior/middle CN-E as neuropathic pain. A diagnosis of LBP due to CN-E must be made carefully because symptoms resemble nociceptive pain.

A Patient with Tarsal Tunnel Syndrome Associated with the Flexor Digitorum Accessorius Longus Muscle.

The flexor digitorum accessorius longus muscle (ALM) can be overlooked as the eliciting factor in patients with tarsal tunnel syndrome (TTS), an entrapment neuropathy of the posterior tibial nerve that elicits sole numbness and pain. Most elicitations are idiopathic, however, mass lesions within the tarsal tunnel can be also implicated. We report an 80-year-old woman whose flexor digitorum ALM led to the onset of bilateral TTS. She had suffered numbness in both soles for 3 years. Magnetic resonance imaging (MRI) of the bilateral tarsal tunnel showed that the posterior tibial nerve was compressed by the arteriovenous complex and in contact with the flexor digitorum ALM. We diagnosed bilateral TTS based on her symptoms and imaging findings, and performed bilateral decompression surgery of the posterior tibial nerve under local anesthesia. The artery on both sides was dislocated for nerve decompression. Because the posterior tibial nerve on the right side was strongly compressed in ankle plantar flexion we excised a portion of the tendon compressing the nerve. Postoperatively her symptoms gradually improved and she reported surgical satisfaction 6 months after the operation. In patients with flexor digitorum ALM-related TTS, the effect of dynamic factors on MRI findings and on surgical treatment decisions must be considered. Intraoperatively, not only the flexor digitorum ALM, but also other potential etiologic factors eliciting TTS must be kept in mind.

RNF213-Related Vasculopathy: Various Systemic Vascular Diseases Involving RNF213 Gene Mutations: Review.

Moyamoya disease (MMD) is a cerebrovascular disorder that is predominantly observed in women of East Asian descent, and is characterized by progressive stenosis of the internal carotid artery, beginning in early childhood, and a distinctive network of collateral vessels known as "moyamoya vessels" in the basal ganglia. Additionally, a prevalent genetic variant found in most MMD cases is the p.R4810K polymorphism of RNF213 on chromosome 17q25.3. Recent studies have revealed that RNF213 mutations are associated not only with MMD, but also with other systemic vascular disorders, including intracranial atherosclerosis and systemic vascular abnormalities such as pulmonary artery stenosis and coronary artery diseases. Therefore, the concept of "RNF213-related vasculopathy" has been proposed. This review focuses on polymorphisms in the RNF213 gene and describes a wide range of clinical and genetic phenotypes associated with RNF213-related vasculopathy. The RNF213 gene has been suggested to play an important role in the pathogenesis of vascular diseases and developing new therapies. Therefore, further research and knowledge sharing through collaboration between clinicians and researchers are required.

Pathological Findings of Donor Vessels in Bypass Surgery.

(1) Background Cerebral revascularization is necessary to treat intracranial arterial stenosis caused by moyamoya disease, atherosclerosis, or large complex aneurysms. Although various donor vascular harvesting methods have been reported safe, there are no reports on the histological evaluation of donor vessels for each disease, despite the variety of diseases wherein vascular anastomosis is required. (2) Methods Pathological findings of the superficial temporal artery (STA), radial artery (RA), occipital artery (OA), and saphenous vein (SV) harvested at the institution were analyzed. Patients classified according to aneurysm, atherosclerosis, and moyamoya disease were assessed for pathological abnormalities, medical history, age, sex, smoking, and postoperative anastomosis patency. (3) Results There were 38 cases of atherosclerosis, 15 cases of moyamoya disease, and 30 cases of aneurysm in 98 donor vessels (mean age 57.2) taken after 2006. Of the 84 STA, 11 RA, 2 OA, and 1 SV arteries that were harvested, 71.4% had atherosclerosis, 11.2% had dissection, and 10.2% had inflammation. There was no significant difference in the proportion of pathological findings according to the disease. A history of hypertension is associated with atherosclerosis in donor vessels. (4) Conclusions This is the first study to histologically evaluate the pathological findings of donor vessels according to disease. The proportion of dissection findings indicative of vascular damage due to surgical manipulation was not statistically different between the different conditions.

Identification and decompression of superior cluneal nerve implicated in low back pain.

INTRODUCTION: Low back pain (LBP) can be attributable to entrapment of the superior cluneal nerve (SCN) around the iliac crest. Surgical decompression is a useful treatment; however, finding all entrapped SCNs involved in patients with LBP can be difficult. We performed a retrospective study to help identify entrapped SCNs in the narrow surgical field. METHODS: We enrolled 20 LBP patient (22 sides) with SCN entrapment. They were 9 males and 11 females; their mean age was 72.5 years. We developed a 3-step procedure for successful SCN decompression surgery. In step 1, the thoracolumbar fascia is exposed and the SCN penetrating the fascia is released. In step 2, the fascia is opened and the SCN is released. In step 3, the fascia above the iliac crest is opened and the SCN is released. RESULTS: We successfully released 66 nerves; the average was 3.0 ± 0.8 (1-4) per patient. Step 1 detected 18 nerves (27.3%), step 2 identified 35 (53.0%), and in step 3, 13 (19.7%) were recognized. By tracing the thin nerves branching off the SCN, we found 7 nerves (10.6%). We performed 22 operations; step 1 identified 16 SCNs (72.7%), step 2 identified 21 (95.5%), and step 3 found 12 nerves (54.5%). CONCLUSIONS: The SCN is most readily identified upon opening of the thoracolumbar fascia. To identify as many SCN branches as possible, our 3-step method may be useful.

Lung adenocarcinoma metastasis within a pituitary neuroendocrine tumor: a case report with review of literature.

Collision tumors involving the metastasis of malignant neoplasms to pituitary neuroendocrine tumors (PitNETs) are extremely rare. We herein report a case involving a patient with lung adenocarcinoma metastasis within a PitNET who exhibited relatively rapid progression of neurological symptoms. A 75-year-old man who underwent tumor resection 36 and 18 years prior to presentation for bladder and colon cancer, respectively, without recurrence presented with bitemporal hemianopsia, ptosis, and diplopia of the right eye. Subsequent magnetic resonance imaging (MRI) revealed a tumor 3.2 cm in diameter that extended from the anterior pituitary gland to the suprasellar region. Gadolinium-enhanced MRI of the tumor showed heterogeneous contrast enhancement. Considering the relatively rapid progression of neurological symptoms, semi-emergency endoscopic endonasal transsphenoidal surgery was performed. Histopathological examination revealed a group of thyroid transcription factor-1- and napsin A-positive papillary proliferating cells intermingled with α-subunit- and steroidogenic factor-1-positive PitNET cells. Thus, the patient was diagnosed with lung adenocarcinoma metastasis within a gonadotroph PitNET. Genetic testing revealed the presence of an EGFR (Ex-19del) mutation, after which chemotherapy was initiated. Additional stereotactic radiotherapy was performed for the residual tumor in the sella turcica. With continued chemotherapy, good control of both the primary and metastatic tumors was noted after 24 months after surgery. Cases of malignant neoplasm metastasis within a PitNET are difficult to diagnose. In the case of a sella turcica tumor with relatively rapid progression of neurological symptoms, early surgical intervention is recommended given the possibility of a highly proliferative tumor and the need to obtain pathologic specimens.

Experience Using Gentian Violet-Free Dyes for Tissue Visualization.

BACKGROUND: Gentian violet ink is used as a skin marker in various surgical procedures, including neurosurgery. The dye is also used to visualize the edges of blood vessels during bypass surgery. However, gentian violet ink carries the risks of carcinogenicity and venous injury, which causes microvascular thrombosis. In this study, we compare the gentian violet-free dye C.I. Basic Violet 4 (BV4) and gentian violet. The usefulness, in terms of color, and formation of microvascular thrombosis in anastomosis were compared. METHODS: We used the gentian violet-free dye in 20 cases involving 3 vascular anastomoses. The bone cutting lines on the bone surface, superior temporal artery, and middle cerebral artery were drawn using BV4 and gentian violet ink. RESULTS: The colors of BV4 and gentian violet ink were similar. No thrombus formation was observed at the vascular anastomosis when using BV4. CONCLUSION: BV4 can be used similarly to gentian violet ink. No adverse effects such as thrombus formation in microvascular anastomosis were experienced when BV4 was used.

Endoscopic spinal cord untethering using a 1 cm skin incision technique in pediatrics: a technical case report.

BACKGROUND: Spinal cord untethering by sectioning the filum terminale is commonly performed in tethered cord syndrome patients with minor abnormalities such as filar lipoma, thickened filum terminale, and low conus medullaris. Our endoscopic surgical technique, using the interlaminar approach, allows for sectioning the filum terminale through a very small skin incision. To our knowledge, this procedure has not been previously reported. This is the first case report involving a 1 cm skin incision. CASE PRESENTATION: A 9-month-old male patient was referred to our neurosurgical department due to a coccygeal dimple. MRI revealed a thickened fatty filum. After considering the treatment options for this patient, the parents agreed to spinal cord untethering. A midline 1 cm skin incision was made at the L4/5 vertebral level. Untethering by sectioning the filum terminale was performed by full endoscopic surgery using the interlaminar approach. The procedure was uneventful and there were no postoperative complications. CONCLUSIONS: In terms of visibility and minimizing invasiveness, our surgical technique of using the interlaminar approach with endoscopy allows for untethering by sectioning the filum terminale through a very small skin incision.

Neurointensive Care of Traumatic Brain Injury Patients Based on Coagulation and Fibrinolytic Parameter Monitoring.

Coagulopathy, a common complication of traumatic brain injury (TBI), is characterized by a hypercoagulable state developing immediately after injury, with hyperfibrinolysis and bleeding tendency peaking 3 h after injury, followed by fibrinolysis shutdown. Reflecting this timeframe, the coagulation factor fibrinogen is first consumed and then degraded after TBI, its concentration rapidly decreasing by 3 h post-TBI. The fibrinolytic marker D-dimer reaches its maximum concentration at the same time. Hyperfibrinolysis in the acute phase of TBI is associated with poor prognosis via hematoma expansion. In the acute phase, the coagulation and fibrinolysis parameters must be monitored to determine the treatment strategy. The combination of D-dimer plasma level at admission and the level of consciousness upon arrival at the hospital can be used to predict the patients who will "talk and deteriorate." Fibrinogen and D-dimer levels should determine case selection and the amount of fresh frozen plasma required for transfusion. Surgery around 3 h after injury, when fibrinolysis and bleeding diathesis peak, should be avoided if possible. In recent years, attempts have been made to estimate the time of injury from the time course of coagulation and fibrinolysis parameter levels, which has been particularly useful in some cases of pediatric abusive head trauma patients.

Evaluation of Ethyl Violet as an Alternative Dye to Crystal Violet to Visualize the Vessel Wall during Vascular Anastomosis.

Crystal violet (CV) ink has been used as a skin marker worldwide. It has been reported to be useful for vessel wall visualization of microvascular anastomoses. Contrastingly, it has been found to be carcinogenic and inhibit migration and proliferation of venous cells. In some countries, its use in the medical field has been restricted. Therefore, it is necessary to consider alternatives to CV. In this present study, we compared the time required for the anastomosis of a 0.8-1 mm diameter vessel in the chicken wrist artery using CV and a CV-free dye (ethyl violet; EV). The surgeon, microscope, and anastomosis microsurgical tools were standardized for comparison. CV and EV were changed for each anastomosis. The same surgeon performed 30 anastomoses using each dye. No visually obvious differences were noted in the vascular transections with CV and EV. As per the results, no statistically significant difference was observed in the time required for anastomosis using CV and EV. EV conforming to California Proposition 65 may be an effective alternative to CV for vascular visualization of microvascular anastomoses. However, further studies on the effectiveness of the EV in clinical cases are needed.

Injury to the Extrasellar Portion of the Internal Carotid Artery during Endoscopic Transsphenoidal Surgery: A Case Report.

Background: Injury to the internal carotid artery (ICA) during endoscopic transsphenoidal surgery (ETSS) is a serious complication with a risk of mortality. ICA injury during ETSS usually occurs during intrasellar manipulations and rarely occurs in the extrasellar portion. Several hemostatic procedures have been proposed for ICA injury in the intrasellar portion, whereas hemostatic methods for ICA injury in the extrasellar portion, where the ICA is surrounded by bone structures, are less well known. Case Presentation: A 65-year-old man with an incidental pituitary tumor underwent ETSS. The petrous portion of the left ICA was injured during resection of the sphenoid septum connected with left carotid prominence using a cutting forceps. Bleeding was too heavy for simple hemostatic techniques. Hemostasis using a crushed muscle patch was tried unsuccessfully during controlling of the bleeding. Eventually, the injured site of the ICA was covered with cotton patties followed by closing with a vascularized pedicled nasoseptal flap. Cerebral angiography immediately after surgery showed no extravasation from the injured site of the left ICA petrous portion. However, a carotid-cavernous sinus fistula originating from the injured ICA site was detected 7 days after surgery, so the vascular reconstructive surgery combined with left ICA occlusion was performed. The overall postoperative course was uneventful. Conclusion: We believe that emergency application of the cottonoids may be effective for hemostasis against ICA injury in the extrasellar portion during ETSS, but further vascular reconstruction combined with ICA occlusion on the injured side and removal of the cottonoids would be required.

Preliminary Clinical Surgical Experience with Temporary Simultaneous Use of an Endoscope during Exoscopic Neurosurgery: An Observational Study.

The use of an endoscope in exoscopic transcranial neurosurgery for skull-base lesions has not yet been investigated. Thus, this study aimed to investigate the advantages, disadvantages, and safety of "simultaneous temporary use of an endoscope during exoscopic surgery" (exo-endoscopic surgery (EES)). Consecutive exo-endoscopic surgeries performed by experienced neurosurgeons and assistants were analyzed. Surgical complications and time were compared with previous consecutive microsurgeries performed by the same surgeon. A questionnaire survey was conducted on 16 neurosurgeons with experience in both "temporary simultaneous use of endoscope during microscopic surgery" (micro-endoscopic surgery (MES)) and EES. EES was performed in 18 of 76 exoscopic surgeries, including tumor removal (n = 10), aneurysm clipping (n = 5), and others (n = 3). There were no significant differences in operative time, anesthesia time, or complications from microsurgery by the same operator. According to the questionnaire survey results, compared with MES, EES had a wider field of view due to its lack of an eyepiece, was easier when loading and unloading instruments into and out of the surgical field, and was more suitable for the simultaneous observation of two fields of view. Overall, 79.2% of surgeons indicated that EES may be better suited than MES to simultaneously observe two fields of view.

Acoustic Neurinoma with Synchronous Ipsilateral Cerebellopontine Angle Lipoma: A Case Report and Review of the Literature.

Lipomas of the cerebellopontine angle (CPA) and internal auditory canal (IAC) are relatively rare tumors. Acoustic neurinoma is the most common tumor in this location, which often causes hearing loss, vertigo, and tinnitus. Occasionally, this tumor compresses the brainstem, prompting surgical resection. Lipomas in this area may cause symptoms similar to neurinoma. However, they are not considered for surgical treatment because their removal may result in several additional deficits. Conservative therapy and repeated magnetic resonance imaging examinations for CPA/IAC lipomas are standard measures for preserving cranial nerve function. Herein, we report a case of acoustic neurinoma and CPA lipoma occurring in close proximity to each other ipsilaterally. The main symptom was hearing loss without facial nerve paralysis. Therefore, facial nerve injury had to be avoided. Considering the anatomical relationships among the tumors, cranial nerves, and CPA/IAC lipoma, we performed total surgical removal of the acoustic neurinoma. We intentionally left the lipoma untreated, which enabled facial nerve preservation. This report may be a useful reference for the differential diagnosis of similar cases in the future.

Factors Influencing Long-Term Blood Flow in Extracranial-to-Intracranial Bypass for Symptomatic Internal Carotid Artery Occlusive Disease: A Quantitative Study.

BACKGROUND: Maintaining the patency of extracranial-to-intracranial (EC-IC) bypass is critical for long-term stroke prevention. However, reports on the factors influencing long-term bypass patency and quantitative assessments of bypass patency are limited. OBJECTIVE: To quantitatively evaluate blood flow in EC-IC bypass using four-dimensional (4D) flow magnetic resonance imaging (MRI) and investigate factors influencing the long-term patency of EC-IC bypass. METHODS: Thirty-six adult Japanese patients who underwent EC-IC bypass for symptomatic internal carotid or middle cerebral artery occlusive disease were included. We examined the relationships between decreased superficial temporal artery (STA) blood flow volume and perioperative complications, long-term ischemic complications, patient background, and postoperative antithrombotic medications in patients for whom STA flow could be quantitatively assessed for at least 5 months using 4D flow MRI. RESULTS: The mean follow-up time was 54.7 ± 6.1 months. One patient presented with a stroke during the acute postoperative period that affected postoperative outcomes. No recurrent strokes were recorded during long-term follow-up. Two patients died of malignant disease. Seven cases of reduced flow occurred in the STA, which were correlated with single bypass (P = .0294) and nonuse of cilostazol (P = .0294). STA occlusion was observed in 1 patient during the follow-up period. Hypertension, age, smoking, dyslipidemia, and diabetes mellitus were not correlated with reduced blood flow in the STA. CONCLUSION: Double anastomoses and cilostazol resulted in long-term STA blood flow preservation. No recurrence of cerebral infarction was noted in either STA hypoperfusion or occlusion cases.

Use of a Contest Format for Objective Assessment of Microsurgical Technique: An Observational Study.

BACKGROUND: Few studies have used simulation models to examine long-term improvement in microsurgical technique. We investigated whether improvement in surgical technique could be assessed by continuous, objective, contest-format evaluation of the same microsurgical task. METHODS: Since 2014, neurosurgeons with 1-10 years of experience participated in a biannual competition-format test. The task involved creating as many sutures as possible during the 5-minute interval after arteriotomy of a 1-mm artificial vessel. A modified version of the Objective Structured Assessment of Technical Skills examination was created and used. Changes and differences in scores over time were examined for each evaluator. RESULTS: Overall, 103 neurosurgeons participated in the study at least once, and those who participated more than once were divided into two groups: those who had the highest score in each contest and those who had the lowest score. The linear regression equations for the highest and lowest scorers were y=7.62x+81.56 (R2=0.628) and y=1.94x+67.93 (R2=0.0433), respectively. High scorers had high scores from the first time they participated, and their scores tended to increase further, while scores for low scorers tended not to increase with additional experience. Scores for the four evaluators did not significantly differ. CONCLUSIONS: Our results suggest that technical improvement in surgery can be assessed by long-term, continuous evaluation of microsurgical technique and that the present evaluation system might help increase surgical safety.

Suspected Low-Pressure Hydrocephalus Caused by Spinal Drainage after Subarachnoid Hemorrhage.

Hydrocephalus induced by low cerebrospinal fluid (CSF) pressure is extremely rare and sporadically reported. Subarachnoid hemorrhage, head trauma, and spinal drainage were reported to be causative factors for surgical treatment. A 33-year-old man with subarachnoid hemorrhage caused by right vertebral artery aneurysm rupture developed headache. Trapping surgery was performed, and a spinal drain was inserted from L4/5 for subarachnoid hemorrhage washout. On postoperative day 3, subdural fluid accumulation had increased at the posterior fossa craniotomy site and the cerebellar sulci had narrowed; the ventricles were slightly enlarged. The patient reported headache during head elevation. Low-pressure hydrocephalus (LPH) was suspected. After the spinal drain was removed, headache resolved, and cerebral ventriculomegaly disappeared. The subsequent clinical course was good. The patient was discharged 3 weeks after surgery. LPH is a rare disease caused by various factors and is treated by correcting liquorrhea or overdrainage, when present. Otherwise, drainage at negative CSF pressure is necessary. The symptoms and image findings for LPH are similar to those for intracranial hypertension and normal-pressure hydrocephalus. This report describes a suspected case of LPH caused by spinal drainage after subarachnoid hemorrhage and reviews the literature.

Case Report: A Case of Moyamoya Syndrome Associated With Multiple Endocrine Neoplasia Type 2A.

To the best of our knowledge, we report a case of MEN2A complicated by moyamoya syndrome. A 52-year-old woman presented with vertigo. Magnetic resonance angiography (MRA) revealed bilateral supraclinoid stenosis of the internal carotid artery and abnormal moyamoya-like vessels around the basal ganglia. She had a heterozygous variant of RNF213, which is the susceptibility gene for moyamoya disease. She had also previously received diagnoses of medullary thyroid carcinoma (MTC) at age 23 and left-sided pheochromocytoma (PHEO) at age 41. Genetic testing revealed heterozygosity for a mutation at codon 634 in exon 11 (TGC-TTC mutation; p.Cys634Phe) of the Ret gene. Intracranial vascular stenosis may have been caused by a genetic mutation of RNF213 and hypersecretion of catecholamines by MEN2A. Physicians should recognize that MEN2A can be present with moyamoya syndrome.

Ring finger protein 213 c.14576G>A mutation is not involved in internal carotid artery and middle cerebral artery dysplasia.

The ring finger protein 213 (RNF213) susceptibility gene has been detected in more than 80% of Japanese and Korean patients with moyamoya disease (MMD), a bilateral internal carotid artery (ICA) occlusion. Furthermore, RNF213 has been detected in more than 20% of East Asians with atherosclerotic ICA stenosis. In this study, we evaluated the frequency of RNF213 mutations in congenital occlusive lesions of the ICA system. This case series was conducted jointly at four university hospitals. Patients with a family history of MMD, quasi-MMD, or related diseases were excluded. Ten patients were diagnosed with abnormal ICA or middle cerebral artery (MCA) angiogenesis. Patients with neurofibromatosis were excluded. Finally, nine patients with congenital vascular abnormalities were selected; of these, five had ICA deficiency and four had twig-like MCA. The RNF213 c.14576G > A mutation was absent in all patients. Therefore, the RNF213 c.14576G > A mutation may not be associated with ICA and MCA congenital dysplasia-rare vascular anomalies making it difficult to study a large number of cases. However, an accumulation of cases is required for accurate determination. The results of this study may help differentiate congenital vascular diseases from MMD.

Investigation of Objectivity in Scoring and Evaluating Microvascular Anastomosis Simulation Training.

The increase in minimally invasive surgery has led to a decrease in surgical experience. To date, there is only limited research examining whether skills are evaluated objectively and equally in simulation training, especially in microsurgery. The purpose of this study was to analyze the objectivity and equality of simulation evaluation results conducted in a contest format. A nationwide recruitment process was conducted to select study participants. Participants were recruited from a pool of qualified physicians with less than 10 years of experience. In this study, the simulation procedure consisted of incising a 1 mm thick blood vessel and suturing it with a 10-0 thread using a microscope. Initially, we planned to have the neurosurgical supervisors score the simulation procedure by direct observation. However, due to COVID-19, some study participants were unable to attend. Thus requiring some simulation procedures to be scored by video review. A total of 14 trainees participated in the study. The Cronbach's alpha coefficient among the scorers was 0.99, indicating a strong correlation. There was no statistically significant difference between the scores from the video review and direct observation judgments. There was a statistically significant difference (p <0.001) between the scores for some criteria. For the eight criteria, individual scorers assigned scores in a consistent pattern. However, this pattern differed between scorers indicating that some scorers were more lenient than others. The results indicate that both video review and direct observation methods are highly objective techniques evaluate simulation procedures.

RNF213 c.14576G>A Is Associated with Intracranial Internal Carotid Artery Saccular Aneurysms.

A mutation in RNF213 (c.14576G>A), a gene associated with moyamoya disease (>80%), plays a role in terminal internal carotid artery (ICA) stenosis (>15%) (ICS). Studies on RNF213 and cerebral aneurysms (AN), which did not focus on the site of origin or morphology, could not elucidate the relationship between the two. However, a report suggested a relationship between RNF213 and AN in French-Canadians. Here, we investigated the relationship between ICA saccular aneurysm (ICA-AN) and RNF213. We analyzed RNF213 expression in subjects with ICA-AN and atherosclerotic ICS. Cases with a family history of moyamoya disease were excluded. AN smaller than 4 mm were confirmed as AN only by surgical or angiographic findings. RNF213 was detected in 12.2% of patients with ICA-AN and 13.6% of patients with ICS; patients with ICA-AN and ICS had a similar risk of RNF213 mutation expression (odds ratio, 0.884; 95% confidence interval, 0.199-3.91; p = 0.871). The relationship between ICA-AN and RNF213 (c.14576G>A) was not correlated with the location of the ICA and bifurcation, presence of rupture, or multiplicity. When the etiology and location of AN were more restricted, the incidence of RNF213 mutations in ICA-AN was higher than that reported in previous studies. Our results suggest that strict maternal vessel selection and pathological selection of AN morphology may reveal an association between genetic mutations and ICA-AN development. The results of this study may form a basis for further research on systemic vascular diseases, in which the RNF213 (c.14576G>A) mutation has been implicated.