Case Of Moyamoya Disease Research Articles

A Case of Moyamoya Disease With Spontaneous Regression of Posterior Choroidal Artery Aneurysm After Improvement in Obesity and Administration of an Antihypertensive Drug

A Case of Moyamoya Disease With Spontaneous Regression of Posterior Choroidal Artery Aneurysm After Improvement in Obesity and Administration of an Antihypertensive Drug

Association Between Moyamoya Revascularization Surgery and Neurologic Events During Pregnancy: Systematic Review.

The management of moyamoya disease during pregnancy and recommendations for the mode of delivery remain controversial. We investigated factors associated with neurologic events during pregnancy in women with moyamoya disease and its association with prepregnancy surgical revascularization. We performed a literature search from January 1, 1970, through September 30, 2021, using Embase, Web of Science, Medline, and Cochrane to identify cases of moyamoya disease with pregnancy. Primary outcome was neurologic events during pregnancy and were subcategorized into antepartum, intrapartum (within 24 hours of delivery), and postpartum events. Univariate and multivariate regression analyses using pooled results were performed to assess risk factors associated with neurologic events. Fifty-two relevant studies with 182 individuals diagnosed with moyamoya before pregnancy, and 229 pregnancies were included in the study. 59% underwent surgical revascularization before pregnancy. Of the 229 pregnancies, 22 (9.6%) patients had ischemic events and 3 (1.3%) had hemorrhagic events. In addition, there were 7 (3%) seizures and 4 (1.7%) other neurologic events not associated with ischemia or hemorrhage. There were fewer neurologic events during pregnancy in patients treated with surgery than those without surgery (11% surgical vs 24% medical, P = .009). Multivariable regression analysis demonstrated prior surgical revascularization as the only factor associated with lower number of neurologic events during pregnancy (odds ratio 0.42 [95% CI 0.19-0.96]). Mode of delivery (vaginal vs cesarean section) was not associated with a difference in overall intrapartum and postpartum neurologic events. We found that prior revascularization surgery was the only factor associated with fewer neurologic events during pregnancy in women with moyamoya disease. Mode of delivery was not associated with increased neurologic events during or after delivery.

Clinical Course, Therapy, and Long-Term Outcomes of Children With Moyamoya Disease and Posterior Cerebral Artery Involvement.

Posterior cerebral artery involvement (PCAi) has been identified as an important factor related to poor prognosis in moyamoya disease (MMD). This study summarized the characteristics of children with MMD and PCAi, clarified the clinical course, identified prognostic predictors, and investigated the long-term effect of encephaloduroarteriosynangiosis for posterior circulation (EDAS-p). We retrospectively reviewed all our pediatric MMD cases with follow-up angiograms from November 2003 to December 2016. PCAi was classified as early-onset at initial diagnosis and delayed-onset after anterior circulation revascularization. Multivariable data including clinical features, radiographic findings, and surgical outcomes were analyzed. Among 570 children with MMD, 246 (43.2%) had PCAi, with 176 (30.9%) classified as early-onset PCAi. During a median follow-up period of 10 years, 17.8% (70/394) of patients without initial PCAi developed delayed-onset PCAi. The median time to detection of a new PCA lesion was 15.5 (range 7-110) months from initial diagnosis, with a median age of 10.5 (3-22). Younger age at onset, familial occurrence, advanced Suzuki stages, and preoperative infarctions were predictors of delayed-onset PCAi. EDAS-p was performed on 294 hemispheres of 195 patients with PCAi. Stroke-free survival was significantly higher in the EDAS-p group than in the non-EDAS-p group (99.0% vs 90.2%; p < 0.001 [Breslow test]; p = 0.001 [log-rank test]; median follow-up: 101 months). PCAi is not uncommon in children with MMD, underscoring the need for long-term close clinical monitoring, especially in patients with high-risk factors for PCA progression. EDAS-p may be a safe and effective procedure for preventing subsequent stroke in children with MMD and PCAi.

Worse outcome in hemorrhagic moyamoya disease of anterior circulation type compared to posterior circulation type

ObjectiveDespite the known poor outcomes of patients with hemorrhagic moyamoya disease (MMD), previous studies have not explored the entire population of hemorrhagic MMD, often excluding severely impaired patients due to the lack of imaging studies demonstrating cerebral angioarchitecture. Herein, we investigate the prevalence, location of intracerebral hematoma (ICH), and outcomes in patients with hemorrhagic MMD, including severely impaired individuals who underwent emergency computed tomography (CT) angiography (CTA) to identify secondary ICHs. MethodsWe conducted a retrospective analysis of 2092 patients admitted to our hospital within 3 days of ICH onset from January 2010 to December 2022. CTA was performed for all patients with ICH, principally. ResultsCTA was performed in 1645 (78.6%) patients. We diagnosed MMD in 40 patients (2.5%), making it the third leading cause of secondary ICH. Twenty patients had anterior-type hematomas, while the remaining twenty had posterior-type hematomas. At 90 days after onset, 19 patients (95%) with anterior-type hematomas had unfavorable outcomes (modified Rankin scale [mRS] scores of 3–6), compared to 11 patients (55%) with posterior-type hematomas. The number of unfavorable outcomes was significantly higher in the anterior-type group compared to the posterior-type group (p = 0.008). ConclusionThis comprehensive study highlights that the majority of MMD cases with ICH result in unfavorable outcomes, especially when the ICH is located in the anterior circulation. While recent studies have focused on preventing bleeding from choroidal anastomosis in the posterior circulation, overall outcome improvement of hemorrhagic MMD necessitates a greater emphasis on addressing anterior circulation ICHs.

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.

Persistent trigeminal artery in a patient with moyamoya disease:a case report and literature review

BackgroundsPersistent trigeminal artery (PTA) is a rare anastomosis between internal carotid artery (ICA) and basilar artery. In rare conditions, the PTA could be combined with others cerebrovascular anomalies, moyamoya disease (MMD) is one of them.Case presentationHere, we reported one rare case of MMD associated with PTA, the patient admitted to our department for severe dizziness and headache, imaging examination suggested MMD combined with right PTA, which arising from the ipsilateral cavernous portion of ICA. The patient received phased bilaterral revascularization with no any complication. In the subsequent follow-up, the patient’s symptoms and intracranial vascular condition gradually improved. Moreover, we conducted a literature review of coexistence of PTA and MMD, the results of a web of science regarding such condition, and a deep discussion providing brief insight into the status of co-occurrence of PTA and MMD, including its manifestation, treatment and outcome.ConclusionsThe coexistence of PTA and MMD was rarely reported, the pathogenesis of such condition remains unknown. We found that the features of the coexistence of PTA and MMD were diverse, revascularization might be a feasible for such patient.

Abstract 042: Cognitive outcomes in patients with carotid insufficiency after undergoing direct extracranial‐intracranial bypass

Introduction Extracranial‐intracranial (EC‐IC) bypass is a niche procedure that has been selectively used for flow augmentation or flow restoration in patients with intracranial carotid insufficiency.1 The underlying etiology varies but is most commonly related to Moya Moya disease (MMD) or intracranial carotid atherosclerotic disease (ICAD).2 Patients are often managed non‐operatively until they begin to develop symptoms such as transient ischemic attacks (TIAs) or strokes that are recalcitrant to maximal medical management, at which point bypass is pursued.1 This lag period, however, could put patients at risk for long term deficit, not only in the form of focal neurological deficits but also in terms of overall neurocognitive capability.3 Several reports have previously demonstrated some level of association between EC‐IC bypass and neurocognitive outcomes, though in isolated populations of either MMD or ICAD.4,5 We therefore aim to further assess the relationship between EC‐IC bypass and neurocognitive outcomes in patients with intracranial carotid insufficiency. Methods Patients ages 18 years and up undergoing EC‐IC bypass were identified from a single institution database between January 2020 and December 2021. Patient records were reviewed for demographic data including age and sex, as well as preoperative clinical information including comorbidities, operative indication, anticoagulation/antiplatelet therapy usage, prior ischemic stroke, modified Rankin score (mRS), and Montreal Cognitive Assessment (MOCA) score. Radiographic data was also collected including Suzuki grade, collateralization, and perfusion. Post‐operative clinical information including complications, discharge mRS, and discharge MOCA scores were identified. Follow‐up duration, MOCA scores, and mRS were also identified and recorded. Results Of the forty‐four patients that underwent EC‐IC bypass during the specified period, ten had cognitive assessments before and after surgery available for review. The indications for bypass in these cases were ICA steno‐occlusive disease resulting in strokes despite maximal medical management in 9 cases, and MMD in one case. Suzuki grade was IV in the MMD case. Pial collaterals were present in 7 cases, and ECA collaterals were present in 5. Prior ischemic strokes were present in 8 cases, with a preoperative mRS range from 1‐4 (median 1), and average MOCA of 20. Perfusion imaging demonstrated a Tmax mismatch in eight cases, with an average volume of 73.6 cc at risk. All patients underwent direct superficial temporal artery to middle cerebral artery bypass, with additional encephaloduroarteriomyosynangiosis (EDAMS). Follow up MOCA score was improved in 8 cases, unchanged in one case, and worsened in one case (average MOCA increased from 20 to 23). Follow up mRS ranged from 0‐2. Additionally, CT perfusion demonstrated notable improvements in Tmax &gt;4 seconds (decrease from 176 cc to 110 cc), Tmax &gt;6 seconds (decrease from 59 cc to 29 cc), and mismatch (decrease from 59 cc to 17 cc) at 6 month follow up. Conclusion Patients with carotid insufficiency from MMD or ICAD undergoing EC‐IC bypass demonstrate well below normal preoperative MOCA scores. This is suggestive of ongoing neurocognitive decline, which is an often overlooked issue in patients with these pathologies. MOCA and mRS both appear to improve in patients after bypass at longer term follow‐up, suggesting that bypass may be an effective method of addressing the issue of neurocognitive decline in patients with carotid insufficiency.

A case of moyamoya disease

Moyamoya Disease (MMD) is a rare cause of stroke with progressive stenosis of the end of the internal carotid artery and compensatory capillaries. The symptoms and course of moyamoya disease depend on the age of the patient at the time of symptom onset and the type of first episode (ischemic or hemorrhagic), but vary in severity from transient ischemic episodes to persistent neurological deficits [1].

Moyamoya disease mimicking primary central nervous system vasculitis: A case report

Rationale: Both Moyamoya disease (MMD) and primary central nervous system vasculitis (PCNSV) cause cerebrovascular stenosis resulting in similar ischemic neurological events, although therapeutic approaches are distinct from each other. High-resonance vascular wall imaging (HRVWI) with contrast-enhanced magnetic resonance imaging (MRI) is believed to be useful to differentiate PCNSV from MMD by detecting enhancement of cerebral vascular walls. However, recent studies have reported that the vascular walls of major arteries and superficial cerebral arteries are also enhanced by HRVWI in some MMD cases. Patient concerns: A 40-year-old Chinese woman admitted to our hospital with transient weakness of the right hand for a week. A cerebral infarction of the left frontal lobe was detected by diffusion-weighted brain MRI. Magnetic resonance angiography demonstrated severe stenosis of the left middle cerebral artery (MCA) and extensive vascular narrowing. Magnetic resonance angiography incidentally taken 3 years before admission showed only a mild stenosis at the proximal portion of right MCA with intact left internal carotid artery (ICA) and MCA. Moreover, on HRVWI with contrast-enhanced MRI after admission, the wall of ICA was strongly enhanced, and the superficial cerebral arteries were also highly enhanced, which initially suggested PCNSV. Despite these findings, reticular blood vessels were confirmed by digital subtraction angiography, and p.R4810K polymorphism in the ring finger protein 213 gene was detected. Diagnosis: Based on these result, the patient was diagnosed with MMD. Interventions: Bypass surgery was performed. Outcomes: Ischemic events have never been experienced since surgery. Lessons: Our MMD case demonstrated marked asymmetrical progression of cerebral artery stenosis, and enhanced vascular walls of ICA and superficial cerebral arteries by HRVWI, which made differential diagnosis from PCNSV difficult. Genetic analysis of SNP in the ring finger protein 213 gene should be performed to rule out MMD to avoid misdiagnosis of PCNSV particularly in Asian population.

Three-Dimensional Arterial Spin Labeling for the Evaluation of the Cerebral Hemodynamics in Ischemic and Hemorrhagic Moyamoya Disease

Introduction: Moyamoya disease (MMD) is a vascular disease with significant risk of mortality due to ischemia or hemorrhage in the brain. The goal of the study was to explore three-dimensional arterial spin labeling (3D-ASL) to improve evaluation of cerebral hemodynamics in patients with MMD. Methods: Our study included 54 cases of ischemic MMD and 42 cases of hemorrhagic MMD. Dynamic susceptibility contrast-enhanced perfusion-weighted imaging (DSC-PWI) and 3D-ASL were performed at 3.0 T. Based on these scans, cerebral blood flow (CBF), mean transit time (MTT), and time to peak (TTP) were calculated and compared between patients with different disease subtypes. Receiver operating characteristics analysis was used to assess the diagnostic sensitivity and specificity of different imaging procedures and parameters. Results: Our data suggested that CBF in the lesion area was more severely reduced in patients with hemorrhagic MMD than in those with ischemic MMD. The CBF parameter in 3D-ASL diagnosed hemorrhagic and ischemic MMD with a significant sensitivity and specificity of 80.59% and 57.41%, respectively, with an area under the curve (AUC) of 0.75. We also found that the relative CBF of 3D-ASL was more pronounced decreased and the relative MTT and TTP of DSC-PWI were significantly increased in patients with hemorrhagic MMD than those with ischemic MMD. Specificity and sensitivity and AUC of 3D-ASL were better than the comparison of absolute values from DSC-PWI scans. Conclusion: Our study indicated that 3D-ASL is powerful in differentiating patients with cerebral ischemic or hemorrhagic MMD, providing another diagnostic tool that could potentially improve precision medicine to monitoring MMD patients.

RNF213 p.R4810K variant in moyamoya disease in adults and children from a Malaysian tertiary center

Background: Ring finger protein 213 (RNF213) is a major susceptibility gene for moyamoya disease (MMD). A single nucleotide variant known as c.14429G&gt;A (p.R4810K, rs112735431) is strongly associated with MMD, weakly associated with moyamoya syndrome (MMS) and intracranial atherosclerosis (ICAS) in East Asians. The percentage of patients carrying p.R4810K and the effect sizes vary between different racial backgrounds. We aimed to investigate the prevalence of p.R4810K in MMD, MMS, and ICAS patients in Malaysia. Methods: We genotyped p.R4810K in DNA extracted from 9 MMD, 13 MMS, 15 ICAS cases, and 45 controls using TaqMan SNP genotyping assay. Clinical and neuroradiological data was collected for each patient and the distribution of genotype frequencies compared between cases and controls and tested for association. Results: Two of seven (28.6%) Chinese MMD cases had heterozygous p.R4810K (GA) genotype. The remaining MMD cases (5 Chinese and 2 Malays), all 13 MMS, 15 ICAS cases and 45 controls had homozygous wild-type (GG) genotype. Higher frequency of GA genotype was observed in Chinese MMD patients compared with controls, indicating an association between p.R4810K and Chinese MMD subgroup under a dominant model (P=0.0398). Conclusion: This is the first study reporting p.R4810K in a multiracial Asian population. The p.R4810K missense mutation was detected in MMD cases of Chinese descent in Malaysia. Further studies are needed to identify other susceptibility variants and genes in Malaysian patients with moyamoya and ICAS.

The diagnostic performance of high-resolution magnetic resonance-vessel wall imaging in differentiating atherosclerosis-associated moyamoya vasculopathy from moyamoya disease.

To evaluate the diagnostic performance of high-resolution magnetic resonance-vessel wall imaging (HRMR-VWI) in differentiating moyamoya disease (MMD) from atherosclerosis-associated moyamoya vasculopathy (AS-MMV) and investigate an accurate approach for the differential diagnosis. Adult patients who were diagnosed as MMD or AS-MMV and underwent HRMR-VWI were retrospectively included. The three vessel wall features (outer diameter (OD), remodeling index (RI), and pattern of vessel wall thickening) of middle cerebral artery (MCA) in identifying MMD from AS-MMV were assessed and compared. Furthermore, subgroup analysis stratified by degree of luminal stenosis was performed and the cutoff values of different vessel wall features in differentiating MMD from AS-MMV were also calculated. A total of 265 patients (160 cases of MMD and 105 AS-MMV) were included. Patients with AS-MMV had greater OD and RI and were more likely to exhibit eccentric thickening of vessel wall compared to those with MMD (all p < 0.001). The ROC analysis showed that the AUC value of OD was greater than that of RI (0.912 vs. 0.889, p = 0.007) in differentiating MMD from AS-MMV, and their corresponding cutoff values were 1.77 mm and 0.27, respectively. And the AUC value of pattern of vessel wall thickening was 0.786 in non-occluded patients. With the increase of lumen stenosis, the discrimination power of the three indicators enhanced correspondingly. HRMR-VWI is valuable in distinguishing MMD from AS-MMV. The OD of MCA has better diagnostic performance in differentiating AS-MMV from MMD compared to RI and pattern of vessel wall thickening. The outer diameter of the involved artery proved to be both accurate and convenient in distinguishing atherosclerosis-associated moyamoya vasculopathy from moyamoya disease and may provide a quantitative reference for clinical diagnosis. High-resolution magnetic resonance-vessel wall imaging is valuable in distinguishing atherosclerosis-associated moyamoya vasculopathy from moyamoya disease. Compared to remodeling index and pattern of vessel wall thickening, outer diameter is more accurate in differentiating atherosclerosis-associated moyamoya vasculopathy from moyamoya disease. With the increase of lumen stenosis, the discrimination power of outer diameter, remodeling index, and pattern of vessel wall thickening enhanced correspondingly.

Clinical features and prognosis of autosomal dominant polycystic kidney disease with cerebrovascular complications.

This retrospective study was used to evaluate the clinical and imaging characteristics and the prognosis of autosomal dominant polycystic kidney disease (ADPKD) with cerebrovascular complications. We retrospectively analyzed 30 patients with ADPKD complicated with intracerebral hemorrhage (ICH), subarachnoid hemorrhage (SAH), unruptured intracranial aneurysms (UIAs), or Moyamoya disease (MMD) who were admitted to Jinling Hospital from January 2001 to January 2022. We analyzed the clinical manifestations and imaging characteristics of ADPKD patients with cerebrovascular complications and followed up on their long-term outcomes. 30 patients, 17 men and 13 women, with an average age of 47.5 (40.0, 54.0) years were included in this study, including 12 cases of ICH, 12 cases of SAH, 5 cases of UIA, and 1 case of MMD. The 8 patients who died during follow-up had a lower Glasgow Coma Scale (GCS) on admission (p=0.024) and a significantly higher serum creatinine (p=0.004) and blood urea nitrogen (p=0.006) than the 22 patients with long-term survival. Intracranial aneurysms, SAH, and ICH are the most common cerebrovascular diseases in ADPKD. Patients with low GCS score or worse renal function have a poor prognosis, which can lead to disability and even death.

Moyamoya disease-specific extracellular vesicle-derived microRNAs in the cerebrospinal fluid revealed by comprehensive expression analysis through microRNA sequencing.

To examine the specific changes that occur in the expression levels of extracellular vesicle-derived microRNAs (miRNAs) in intracranial cerebrospinal fluid (CSF) in moyamoya disease. Patients with arteriosclerotic cerebral ischemia were used as controls to eliminate the effects of cerebral ischemia. Intracranial CSF was collected from moyamoya disease and control patients during bypass surgery. Extracellular vesicles (EVs) were extracted from the CSF. Comprehensive expression analysis of miRNAs extracted from EVs by next-generation sequencing (NGS) and validation by quantitative reverse transcription-polymerase chain reaction (qRT-PCR) was performed. Experiments were conducted on eight cases of moyamoya disease and four control cases. In the comprehensive miRNA expression analysis, 153 miRNAs were upregulated, and 98 miRNAs were downregulated in moyamoya disease compared to the control cases (q-value < 0.05 and |log2 fold change|> 1). qRT-PCR performed on the four most variable miRNAs (hsa-miR-421, hsa-miR-361-5p, hsa-miR-320a, and hsa-miR-29b-3p) associated with vascular lesions among the differentially expressed miRNAs gave the same results as miRNA sequencing. On gene ontology (GO) analysis for the target genes, cytoplasmic stress granule was the most significant GO term. This study is the first comprehensive expression analysis of EV-derived miRNAs in the CSF of moyamoya disease patients using NGS. The miRNAs identified here may be related to the etiology and pathophysiology of moyamoya disease.

Moyamoya Disease: Diagnosis, Management, and Roles of the Nurse Practitioners

Moyamoya disease (MMD) is a rare, progressive cerebrovascular disease of unknown etiology characterized by irreversible stenosis or occlusion of the anterior intracranial circulation. As a result, moyamoya vessels form in the brain. Magnetic resonance angiography is used as a noninvasive option to diagnose MMD, but cerebral angiography is required to confirm the diagnosis. MMD presentation might be subtle and challenging to identify. Nurse practitioners should consider this diagnosis in patients showing any symptoms of MMD and make the appropriate referral to a neurosurgeon. It is essential to identify MMD cases early because it can be fatal if left untreated.

Natural course and risk factors of moyamoya disease with unruptured intracranial aneurysm.

The natural course and risk factors of moyamoya disease (MMD) associated with unruptured intracranial aneurysms involving stenosed parental arteries are scarcely studied. This study aimed to elucidate the natural course of MMD and its associated risk factors in patients with MMD with unruptured aneurysms. Between September 2006 and October 2021, patients with MMD with intracranial aneurysms at our center were examined. The natural course, clinical features, radiological features, and follow-up outcomes after revascularization were analyzed. This study included 42 patients with MMD with intracranial aneurysms (42 aneurysms). The age distribution of MMD cases ranged from 6 to 69 years, with four children (9.5%) and 38 adults (90.5%). A total of 17 male and 25 female subjects were included (male-to-female ratio: 1:1.47). The first symptom was cerebral ischemia in 28 cases, and cerebral hemorrhage occurred in 14 cases. There were 35 trunk aneurysms and seven peripheral aneurysms. There were 34 small aneurysms (<5 mm) and eight medium aneurysms (5-15 mm). During the average clinical follow-up period of 37.90 ± 32.53 months, there was no rupture or bleeding from aneurysms. Twenty-seven of these patients underwent a cerebral angiography review, in which it was found that one aneurysm had enlarged, 16 had remained unchanged, and 10 had shrunk or disappeared. A correlation exists between the reduction or disappearance of aneurysms and the progression of the Suzuki stages of MMD (P = 0.015). Nineteen patients underwent EDAS on the aneurysm side, and nine aneurysms disappeared, while eight patients did not undergo EDAS on the aneurysm side and one aneurysm disappeared. The risk of rupture and hemorrhage of unruptured intracranial aneurysms is low when the parent artery already has stenotic lesions, thus, direct intervention may not be necessary for such aneurysms. The progression of the Suzuki stage of moyamoya disease may play a role in the shrinkage or disappearance of the aneurysms, thereby decreasing the risk of rupture and hemorrhage. Encephaloduroarteriosynangiosis (EDAS) surgery may also help promote atrophy or even the disappearance of the aneurysm, thus reducing the risk of further rupture and bleeding.

Serum Kynurenic Acid and Kynurenine Are Negatively Associated with the Risk of Adult Moyamoya Disease.

Background and aim. Kynurenine (KYN) and kynurenic acid (KYNA) are key intermediate metabolites associated with inflammation and immune responses in the kynurenine pathway. It remains unknown whether KYN or KYNA is associated with the risk of adult moyamoya disease (MMD). The aim of this study was to prospectively investigate the association between serum KYN or KYNA and the risk of adult MMD. Methods. The study was conducted from July 2020 to December 2021. We measured serum KYN and KYNA levels for 360 adult MMD patients (259 cases of ischemic MMD, 101 cases of hemorrhagic MMD) and 89 age-sex-matched healthy controls. Clinical and laboratory characteristics were collected from the medical record. Results. After multivariate adjustment, decreased serum KYNA (OR, 0.085; 95% CI, 0.035−0.206; p = 0.000) or KYN (OR, 0.430; 95% CI, 0.225−0.820; p = 0.010) levels were associated with increased risk of MMD when upper and lower tertiles were compared. In addition, a higher trend of hemorrhagic MMD was found in MMD patients in KYNA tertile 1 compared with those in tertile 2 to 3 (OR, 0.584; 95% CI, 0.345−0.987; p = 0.044). Addition of serum KYNA (net reclassification improvement: 73.24%, p = 0.000; integrated discrimination improvement: 9.60%, p = 0.000) or KYN (integrated discrimination improvement: 1.70%, p = 0.037) to conventional risk factors significantly improved the risk prediction of MMD. In the exploratory analysis, we observed an interaction between KYN and age (≥40 versus <40 years) or homocysteine levels (≥13.0 versus <13.0 μmol/L) on the risk of MMD. Conclusions. Decreased serum KYNA or KYN levels were associated with an increased risk of adult MMD, suggesting that serum KYNA or KYN may be a valuable predictive biomarker for adult MMD.

Clinical and Genetic Analysis of a Patient With Coexisting 17a-Hydroxylase/17,20-Lyase Deficiency and Moyamoya Disease.

17a-Hydroxylase/17,20-lyase deficiency (17OHD) is caused by pathogenic mutations in CYP17A1. Female patients present with hypertension, hypokalemia, and sexual infantilism while males present with sex development disorder. Moyamoya disease (MMD) is a chronic cerebrovascular disease that frequently results in intracranial ischemia or hemorrhage. The present study describes a case of 17OHD and MMD in a 27-year-old phenotypically female (46, XY) patient and discusses the clinical features and characteristics of her genetic defect. Clinical, hormonal, radiological, and genetic analyses were performed and blood samples were collected for whole-exome sequencing (WES). The results of the WES revealed a homozygous intronic mutation (c.297+2T>C) in CYP17A1, which led to combined 17a-hydroxylase/17,20-lyase deficiency, as well as novel variants in PCNT and CNOT3 that might lead to MMD. To our knowledge, this study is the first to describe 17OHD accompanied by MMD. While several cases have previously described patients with 17OHD with histories of cerebral hemorrhage or cerebral ischemia, a correlation in genetic levels between 17OHD and MMD was not found. The risk of cerebrovascular accidents should be considered in patients with 17OHD and hypertension. Cerebrovascular examination in patients with 17OHD may be beneficial for the prevention of life-threatening intracranial vascular disease.

A Retrospective Study on Clinical Features of Childhood Moyamoya Disease

BackgroundChildhood moyamoya disease (MMD) can lead to progressive and irreversible neurological impairment. Early age at onset is likely associated with a worst prognosis of the disease. The study aims to summarize the clinical characteristics of childhood MMD for supporting the diagnosis and treatment of early MMD. MethodsA retrospective study was conducted on children aged zero to 16 years who were diagnosed with MMD in the Department of Neurology and neurosurgery of our hospital from October 2016 to April 2020. The clinical characteristics of children with MMD were summarized for analysis, and the distribution of sex and initial attack type among different age groups was determined by data comparison. ResultsThe study surveyed 114 children (male to female sex ratio of 1:1.07) with MMD, and 6.1% of them had family history. The mean age of onset was 7.15 ± 3.30 years, and the peak age of onset was five to eight years. The most common initial attack type was transient ischemic attack (TIA) (62 cases, 54.4%) with limb weakness. The incidence of the initial attack type in the three age groups was varied (P < 0.05). The result of overall prognosis was good in 86 cases (89.6%). ConclusionsIn this study, MMD cases were mainly ischemic type and TIA was the most common initial attack type. Infant group was more prone to have cerebral infarction, whereas preschool and school-age groups tended to have TIA. The treatments and prognosis of the studied MMD cases were achieved with good outcomes.