Ideggyogyaszati Szemle-Clinical Neuroscience最新文献

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[The role of physical exercise in the treatment of mental disorders and suicide prevention]. [体育锻炼在治疗精神障碍和预防自杀中的作用]。
IF 0.6 4区 医学
Ideggyogyaszati Szemle-Clinical Neuroscience Pub Date : 2025-07-30 DOI: 10.18071/isz.78.0241
Noémi Mónika Szeifert, Xénia Gonda
{"title":"[The role of physical exercise in the treatment of mental disorders and suicide prevention].","authors":"Noémi Mónika Szeifert, Xénia Gonda","doi":"10.18071/isz.78.0241","DOIUrl":"10.18071/isz.78.0241","url":null,"abstract":"<p><p>According to the World Health Organization (WHO), a sharp increase in the prevalence of mental disorders is expected, and by 2030, the amounts spent on treating depression will constitute the largest health care ex- penditure worldwide. Preliminary estimates also highlight the importance of focusing on any therapeutic approaches that can slow down this trend. Lifestyle medicine, particu- larly regular physical exercise, plays a crucial role as a low-intensity psychological interven- tion. Regular physical exercise is a widely accessible and effective tool for both preven- tion and therapeutic intervention. It impacts all organ systems of the body, and therefore, regardless of age, it significantly contributes to the development and maintenance of both physical and mental health, improves quality of life, and increases life expectancy. A significant portion of mental disor- ders remains undiagnosed and, therefore, untreated. This makes physical exercise par- ticularly important in preventing the devel- opment of psychopathological symptoms in both childhood and adulthood. Despite the long-known positive effects of regular physi- cal exercise, it is rarely mentioned in medical literature and, with few exceptions, is almost entirely absent from treatment protocols. In our summary paper, we integrate foun- dational knowledge from sports science, psy- chopathology, and psychotherapy, aiming for a multidisciplinary, comprehensive approach to treatment. This highlights the potential of regular physical exercise as a medica- tion and an effective therapeutic tool in the treatment of mental disorders, often even as monotherapy. The scope of the paper is to demonstrate how the symptoms of mental disorders can be prevented or  alleviated through regular physical exercise - one of the pillars of lifestyle medicine - as a low-intensity intervention.</p>","PeriodicalId":50394,"journal":{"name":"Ideggyogyaszati Szemle-Clinical Neuroscience","volume":"78 7-8","pages":"241-254"},"PeriodicalIF":0.6,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144735044","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Use of thromboelastography prior to systemic thrombolysis in patients treated with DOACs - case series]. [DOACs患者在全身性溶栓前使用血栓弹性成像-病例系列]。
IF 0.6 4区 医学
Ideggyogyaszati Szemle-Clinical Neuroscience Pub Date : 2025-07-30 DOI: 10.18071/isz.78.0283
Lóránd Hegyi, Péter Klivényi, Alex Beke, József Norbert Nemes, Nikoletta Szabó, Ádám Annus
{"title":"[Use of thromboelastography prior to systemic thrombolysis in patients treated with DOACs - case series].","authors":"Lóránd Hegyi, Péter Klivényi, Alex Beke, József Norbert Nemes, Nikoletta Szabó, Ádám Annus","doi":"10.18071/isz.78.0283","DOIUrl":"10.18071/isz.78.0283","url":null,"abstract":"<p><p>The number of patients treated with direct oral anticoagulants (DOACs) is significantly increasing. In acute ischemic stroke, systemic thrombolysis is currently contraindicated for patients who have received DOAC treatment within the last 48 hours. Therefore, it is crucial to assess the continuity of treatment and patient compliance. However,  accurate history is often unavailable. The anticoagulant effect of DOACs can be detected using viscoelastic tests performed by the thromboelastograph (ClotPro®). In our study, we conducted Russell's viper venom (RVV) and Ecarin assay (ECA) tests using a thromboelastograph in 25 patients with acute ischemic stroke who were potentially taking DOACs but were unable to provide an accurate history. Based on the coagulation time, we obtained information regarding the effect of the anticoagulant treatment, and thus compliance, which aided in assessing the eligibility for thrombolysis.  In 11 cases, we observed the ineffectiveness  of the DOAC therapy, 9 of which were later confirmed by heteroanamnesis. These tests enabled thrombolysis in 4 patients. Hemorrhagic complication was observed in one case, which was caused by an underlying, previously undiagnosed chronic lymphocytic leukemia. In the cases we observed, DOAC-specific viscoelastic  tests (RVV, ECA) provided rapid information regarding DOAC administration within the last 48 hours, allowing the identification  of the patients who were eligable for thrombolysis. Overall, these tests assist clinicians in determining compliance,   assessing the possibility of thrombolysis, and reducing the time required to make treatment decisions.</p>","PeriodicalId":50394,"journal":{"name":"Ideggyogyaszati Szemle-Clinical Neuroscience","volume":"78 7-8","pages":"283-288"},"PeriodicalIF":0.6,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144735045","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Assessment of cognitive functions in drug-refractory epileptic patients]. [药物难治性癫痫患者认知功能的评估]。
IF 0.6 4区 医学
Ideggyogyaszati Szemle-Clinical Neuroscience Pub Date : 2025-07-30 DOI: 10.18071/isz.78.0271
Márk Juhász-Nagy, Fanni Mercédesz Kovács, Regina Ugrina, Vivien Mercédesz Tóth, Délia Szok, Tímea Tánczos
{"title":"[Assessment of cognitive functions in drug-refractory epileptic patients].","authors":"Márk Juhász-Nagy, Fanni Mercédesz Kovács, Regina Ugrina, Vivien Mercédesz Tóth, Délia Szok, Tímea Tánczos","doi":"10.18071/isz.78.0271","DOIUrl":"10.18071/isz.78.0271","url":null,"abstract":"<p><strong>Background and purpose: </strong>During an epileptic seizure, cortical neurons produce patterns of excessive synchronized electric discharge, which leads to various neurobio- logical, cognitive, and affective consequenc- es. At least 70% of epileptic patients can be characterized by varying degrees of cogni- tive deficits that may extend to language, executive functions and memory functioning. Drug-refractory epilepsy (DRE), which affects about one third of the patient population can negatively affect everyday functioning and quality of life. This pilot study aims to construct and examine the neuropsycho- logical profile of people with DRE within the framework of a longitudinal research project.</p><p><strong>Methods: </strong>A total of 33 subjects (21 women and 12 men; age range: 21-66 years, M = 41.49, SD = 15.75) were included in our study. A number of 17 drug-resistant epilepsy patients (13 women and 4 men; age range: 21-66 years, M = 46.6, SD = 13.5) and 16 matched controls (8 women and 8 men; age range: 23-59 years, M = 34.13, SD = 17.52) were included in the sample. The Montreal Cognitive Assessment was used as a preliminary screening tool. Executive functions were assessed by the letter and semantic fluency tests, visuo-spatial memory was tested using the Rey-Osterrieth Complex Figure Test (ROCFT), and language functions were assessed using the De Renzi Token Test.</p><p><strong>Results: </strong>Our results showed significantly lower performance in the patient group compared to controls regarding almost all executive functions (verbal fluency tasks, p < 0,05), memory functions (ROCFT delayed recall, p = 0.02) and the Token test assessing language functions (p = 0.009).</p><p><strong>Conclusion: </strong>Consistent with the literature data, DRE patients in this study sample performed significantly worse than the control group in both higher-order cognitive functioning, memory functioning and speech comprehension. The present test battery can be used to map the cognitive profile of DRE patients.</p>","PeriodicalId":50394,"journal":{"name":"Ideggyogyaszati Szemle-Clinical Neuroscience","volume":"78 7-8","pages":"271-281"},"PeriodicalIF":0.6,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144735041","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Treatment-resistant patients with focal epilepsy of unknown cause display reduced neurogranin levels: a preliminary study. 病因不明的局灶性癫痫治疗抵抗患者显示神经颗粒蛋白水平降低:一项初步研究。
IF 0.9 4区 医学
Ideggyogyaszati Szemle-Clinical Neuroscience Pub Date : 2025-05-30 DOI: 10.18071/isz.78.0163
Aysel Büşra Şişman, Merve Savaş, Gizem Koral, Muhammet Duran Bayar, Oğuz Yildiz, Aytül Mutlu, Vuslat Yilmaz, Erdem Tüzün, Özlem Cokar
{"title":"Treatment-resistant patients with focal epilepsy of unknown cause display reduced neurogranin levels: a preliminary study.","authors":"Aysel Büşra Şişman, Merve Savaş, Gizem Koral, Muhammet Duran Bayar, Oğuz Yildiz, Aytül Mutlu, Vuslat Yilmaz, Erdem Tüzün, Özlem Cokar","doi":"10.18071/isz.78.0163","DOIUrl":"10.18071/isz.78.0163","url":null,"abstract":"<p><strong>Background and purpose: </strong>The role of synaptic dysfunction in focal epilepsy of unknown cause is not well understood. Neurogranin is a post-synaptic protein used as a biomarker of synaptic disintegration in patients with dementia.</p><p><strong>Methods: </strong>To evaluate the association between synaptic loss, cognitive impairment and seizure activity in epilepsy, we collected sera of 51 patients with focal epilepsy of unknown cause, 26 with frontal lobe epilepsy (FLE) and 25 with mesial temporal lobe epilepsy with hippocampal sclerosis (MTLEHS), and 25 healthy controls. Serum neurogranin levels were measured by ELISA and we sought for potential correlations between neurogranin levels versus clinical features, cognitive test and quality of life scores of the patients.</p><p><strong>Results: </strong>Neurogranin levels were significantly reduced in MTLE-HS patients as compared to FLE patients and healthy controls but were not correlated with any of the clinical and cognitive variables. Both FLE and MTLE-HS patients with treatment resistance showed significantly reduced neurogranin levels.</p><p><strong>Conclusion: </strong>Our results suggest that MTLE-HS patients suffer from reduced synaptic protein production rather than increased synaptic breakdown. Reduction of neurogranin is associated with resistance to anti-epileptic treatment implying the role of this protein in the control of seizures. Neurogranin might serve as a biomarker for monitorization of seizure activity in focal epilepsies.</p>","PeriodicalId":50394,"journal":{"name":"Ideggyogyaszati Szemle-Clinical Neuroscience","volume":"78 5-6","pages":"163-168"},"PeriodicalIF":0.9,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144235819","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A case report of Isaacs' syndrome with treatment-resistant pain responsive to rituximab. 对利妥昔单抗有反应的艾萨克斯综合征伴难治性疼痛1例报告。
IF 0.9 4区 医学
Ideggyogyaszati Szemle-Clinical Neuroscience Pub Date : 2025-05-30 DOI: 10.18071/isz.78.0214
Berin Inan, Ulkuhan Duzgun, Semih Mert Kilic, Omer Karadas, Zeki Odabasi
{"title":"A case report of Isaacs' syndrome with treatment-resistant pain responsive to rituximab.","authors":"Berin Inan, Ulkuhan Duzgun, Semih Mert Kilic, Omer Karadas, Zeki Odabasi","doi":"10.18071/isz.78.0214","DOIUrl":"10.18071/isz.78.0214","url":null,"abstract":"<p><p>Isaacs' syndrome is an immune-mediated primary peripheral nerve hyperexcitability syndrome characterized by muscle twitches, cramps, and muscle stiffness. In 30-50% of cases, antibodies against voltage-gated potassium channel (VGKC) complex proteins are present. Symptomatic treatment, intravenous immunoglobulin (IVIg), plasma exchange (PE), and intravenous methylprednisolone (IVMP) are generally effective in controlling symptoms. However, some cases remain treatment-refractory. We present a 52-year-old female patient with walking difficulty, fasciculations, and severe back and hip pain. The patient was positive for anti-VGKC antibodies with a history of thymoma. Symptomatic treatment, highdose IVMP, IVIg and PE treatments improved the patient's gait partially but failed to control the pain and fasciculations. Eventually, we treated the patient with rituximab (RTX), because of its effect on antibody-mediated autoimmunity, resulting in complete symptomatic relief without side effects. RTX is a safe and effective option for controlling symptoms in treatment-refractory cases with Isaacs' syndrome.</p>","PeriodicalId":50394,"journal":{"name":"Ideggyogyaszati Szemle-Clinical Neuroscience","volume":"78 5-6","pages":"214-216"},"PeriodicalIF":0.9,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144235814","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A case of myositis associated with mixed connective tissue disease mimicking bilateral posterior interosseous nerve palsy. 肌炎合并混合性结缔组织病,模拟双侧后骨间神经麻痹1例。
IF 0.9 4区 医学
Ideggyogyaszati Szemle-Clinical Neuroscience Pub Date : 2025-05-30 DOI: 10.18071/isz.78.0211
Berin Inan, Abdulsamet Emet, Zeki Odabasi
{"title":"A case of myositis associated with mixed connective tissue disease mimicking bilateral posterior interosseous nerve palsy.","authors":"Berin Inan, Abdulsamet Emet, Zeki Odabasi","doi":"10.18071/isz.78.0211","DOIUrl":"10.18071/isz.78.0211","url":null,"abstract":"<p><p>Overlap myositis (OM) is an idiopathic inflammatory myopathy characterized by proximal muscle weakness. However, atypical patterns of muscle involvement may also occur. We present a challenging case of OM mimicking bilateral posterior interosseous nerve (PIN) palsy. The patient presented with a gradual onset of bilateral finger drop over two years. Despite initial clinical suspicion of PIN palsy, electromyography revealed myopathic features. Laboratory assessments showed anti-ribonucleoprotein antibody positivity, with subsequent muscle biopsies supporting OM associated with mixed connective tissue disease. This case highlights the significance of considering atypical presentations of OM. Furthermore, it emphasizes the pivotal role of targeted muscle biopsies when initial biopsy results are inconclusive.</p>","PeriodicalId":50394,"journal":{"name":"Ideggyogyaszati Szemle-Clinical Neuroscience","volume":"78 5-6","pages":"211-213"},"PeriodicalIF":0.9,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144235799","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Evaluation of visual evoked potentials in patients with Hashimoto thyroiditis. 桥本甲状腺炎患者的视觉诱发电位评价。
IF 0.9 4区 医学
Ideggyogyaszati Szemle-Clinical Neuroscience Pub Date : 2025-05-30 DOI: 10.18071/isz.78.0181
Pinar Bengi Boz, Muhammet Ates, Murat Boz
{"title":"Evaluation of visual evoked potentials in patients with Hashimoto thyroiditis.","authors":"Pinar Bengi Boz, Muhammet Ates, Murat Boz","doi":"10.18071/isz.78.0181","DOIUrl":"10.18071/isz.78.0181","url":null,"abstract":"<p><strong>Background and purpose: </strong>Our aim was to use visual evoked potentials (VEP) to evaluate changes in brain bioelectrical activity in Hashimoto thyroiditis patients with normal neurological examination and imaging findings and to correlate the evoked potential parameters with clinical data.</p><p><strong>Methods: </strong>Our aim was to use visual evoked potentials (VEP) to evaluate changes in brain bioelectrical activity in Hashimoto thyroiditis patients with normal neurological examination and imaging findings and to correlate the evoked potential parameters with clinical data.</p><p><strong>Results: </strong>Of the Hashimoto thyroiditis patients included in the study, 92% (n=69) were female, the mean age was 40.3±12.2 years, and the mean disease duration was 5.7±7.5 years (range: 0-40 years, median: 4 years). Euthyroid patients showed significantly longer P100 latency difference and higher N75/P100 amplitude than the control group (p=0.014 and 0.007, respectively). Elevated thyroid-stimulating hormone level was associated with longer N75 and P100 latencies.</p><p><strong>Conclusion: </strong>Our results demonstrated the presence of abnormal brain bioelectric activity in Hashimoto thyroiditis patients without active neurological findings. These effects increase with disease severity and duration and necessitate the development of early treatment strategies to halt the progressive autoimmune process.</p>","PeriodicalId":50394,"journal":{"name":"Ideggyogyaszati Szemle-Clinical Neuroscience","volume":"78 5-6","pages":"181-188"},"PeriodicalIF":0.9,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144235817","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Unexpected changes in long-term follow-up of pharmacoresistant epilepsies. Case reports]. 耐药癫痫患者长期随访的意外变化。病例报告)。
IF 0.9 4区 医学
Ideggyogyaszati Szemle-Clinical Neuroscience Pub Date : 2025-05-30 DOI: 10.18071/isz.78.0189
Péter Rajna
{"title":"[Unexpected changes in long-term follow-up of pharmacoresistant epilepsies. Case reports].","authors":"Péter Rajna","doi":"10.18071/isz.78.0189","DOIUrl":"10.18071/isz.78.0189","url":null,"abstract":"<p><strong>Background and purpose: </strong>There is few naturalistic evaluation on the spontaneous plasticity in the long-term follow-up of pharmacoresistant epilepsies. The author aims to answer the following questions: What are the trends and characteristics in spontaneous clinical development (amelioration or worsening) of these patients? Which external circumstances can influence the outcome - with special concern to seizure precipitating/ provoking factors?</p><p><strong>Methods: </strong>The author summarizes the history of 4 patients from the 14 ones with pharmacoresistant epilepsy presented consecutively between 1th January to 30th June 2024 at his out-patient clinic in whom he observed meaningful 'spontaneous' improvement in the follow-up without any modification of pharmacotherapy, and that of further 3 patients in whom unwanted seizure occurred after a long lasting seizure freedom. In their short case-reports he pointed the presence of some actual life events of physical, mental or emotional nature which possibly acted on the outcome.</p><p><strong>Results: </strong>During the long-term follow-up of pharmacoresistant epilepsies the author found that i./ The clinical course can show 'spontaneous' improvement concerning both in the frequency and intensity of seizures. ii./ In the majority of patients it shows close relation to the changes in life circumstances and to the presence of transient life events. iii./ The increased risk for relapse has been still remaining after a seizure-free life period lasting longer than that of established for the cured state.</p><p><strong>Conclusion: </strong>Occurrence of habitual seizures can be in closer connection with precipitating factors even is pharmacoresistant epilepsies. So, decrease or lack of some of them can lead to spontaneous recovery. The applied pills did not play significant role. On the other hand, the pharmacoresistant epilepsies can temporarily fulfill the conditions of 'cured epilepsy' but the risk of recurrence still remains higher. Based on these observations, a more detailed evaluation of precipitating and provoking factors of seizure is recommended in pharmacoresistant patients for achieving their optimal care. This may also include some new concepts in the definition of pharmacoresistant epilepsy.</p>","PeriodicalId":50394,"journal":{"name":"Ideggyogyaszati Szemle-Clinical Neuroscience","volume":"78 5-6","pages":"189-198"},"PeriodicalIF":0.9,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144235798","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Mechanical thrombectomy for acute ischemic stroke with simultaneous aorto-iliac occlusion due to cardiac myxoma dislodgement - Case report with review of the literature. 机械取栓治疗心脏黏液瘤脱位引起的急性缺血性卒中并发主动脉-髂闭塞- 1例报告并文献复习。
IF 0.9 4区 医学
Ideggyogyaszati Szemle-Clinical Neuroscience Pub Date : 2025-05-30 DOI: 10.18071/isz.78.0199
Lazar Lazovic, Petar Bosnjakovic, Yousef A I Abousedu, Diana Khedr, Lamya Alsarraf, Dragan Savic, Maryam Al Murshed, Doaa Hamdy Elkholy, Ibrahim Hanbal, Ghada Hamden
{"title":"Mechanical thrombectomy for acute ischemic stroke with simultaneous aorto-iliac occlusion due to cardiac myxoma dislodgement - Case report with review of the literature.","authors":"Lazar Lazovic, Petar Bosnjakovic, Yousef A I Abousedu, Diana Khedr, Lamya Alsarraf, Dragan Savic, Maryam Al Murshed, Doaa Hamdy Elkholy, Ibrahim Hanbal, Ghada Hamden","doi":"10.18071/isz.78.0199","DOIUrl":"10.18071/isz.78.0199","url":null,"abstract":"<p><p>Introduction - Cardiac myxomas are the most common cardiac tumors that can present with a spectrum of clinical manifestations. They are an uncommon cause of cerebral stroke, and simultaneous involvement of the aorto-iliac vessels is extremely rare with 8 cases reported in the literature over the past 10 years. We provide a pictorial illustration of the radiological, surgical, and histopathological findings, which differentiates our case from others in the literature. Case presentation - A 41-year-old female was admitted with right side weakness and aphasia (NIHSS score of 15). CT and CT-angiography revealed hyperacute brain ischemia with occlusion of left M1-segment of MiddleCerebral-Artery. The patient was shifted to a thrombectomy-capable center, where the left femoral pulse was found to be absence and the right femoral artery had weak pulsations. Mechanical thrombectomy of left MCA was done. Angiography showed occlusions of the distal abdominal aorta, the bilateral common iliac arteries, the left external iliac artery and the left common femoral artery. Surgical embolectomy of peripheral vessels was done. Pathohistology of clots taken out from the cerebral as well as peripheral vessels revealed cardiac myxoma. Patient had complete recovery of the stroke as well as the lower limb ischemia. Conclusion - Atrial myxoma is a rare cause of cerebral stroke requiring a thorough investigation to reach a diagnosis. Mechanical thrombectomy is a safe and effective method for treatment of such strokes. Important to emphasize the need for a multi-disciplinary team in the management of distal embolization in these cases. Data in the literature with regards to its treatment is limited.</p>","PeriodicalId":50394,"journal":{"name":"Ideggyogyaszati Szemle-Clinical Neuroscience","volume":"78 5-6","pages":"199-206"},"PeriodicalIF":0.9,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144235818","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A triple A syndrome with neurological findings; c464G>A mutation in the AAAS gene. 伴有神经学症状的aaa综合征;c464G> AAAS基因突变。
IF 0.9 4区 医学
Ideggyogyaszati Szemle-Clinical Neuroscience Pub Date : 2025-05-30 DOI: 10.18071/isz.78.0207
Pinar Bengi Boz, Ayşe Filiz Koç, Muhammed Burak Bereketoğlu
{"title":"A triple A syndrome with neurological findings; c464G>A mutation in the AAAS gene.","authors":"Pinar Bengi Boz, Ayşe Filiz Koç, Muhammed Burak Bereketoğlu","doi":"10.18071/isz.78.0207","DOIUrl":"10.18071/isz.78.0207","url":null,"abstract":"<p><strong>Background and purpose: </strong>Allgrove syndrome or triple A (3A) syndrome is a multisystem disorder classically defined as the triad of esophageal achalasia, alacrimia and adrenal insufficiency due to adrenocorticotropic hormone insensitivity. Approximately one third of patients experience neurological dysfunction, including peripheral and autonomic nervous system dysfunction, leading some authors to use the term 4A syndrome (achalasia, alacrimia, adrenal insufficiency and autonomic abnormalities). Since its first description in 1978, knowledge of its clinical and genetic features has increased; however, the current literature is limited to case reports and case reviews.</p><p><strong>Methods: </strong>A 20-year-old male patient was admitted to the clinic with the following complaints: difficulty in walking, tingling sensation in the feet and weakness of 1.5 years' duration. He had undergone endoscopy and balloon dilatation surgery 2 years previously.A 20-year-old male patient was admitted to the clinic with the following complaints: difficulty in walking, tingling sensation in the feet and weakness of 1.5 years' duration. He had undergone endoscopy and balloon dilatation surgery 2 years previously.</p><p><strong>Results: </strong>- We performed whole exome analysis on the patient and detected the c464G>A p.(Arg155His) variant in the AAAS gene in homozygous form. It was interpreted as 'pathogenic' according to the ACMG 2015 criteria: homozygous pathogenic variants in this gene correspond to the phenotype 'AchalasiaAddisonism-Alacrimia' (OMIM:231550).</p><p><strong>Conclusion: </strong>We present this case to draw attention to the fact that patients may present with late-onset neurological findings without the classic Allgrove syndrome triadWe present this case to draw attention to the fact that patients may present with late-onset neurological findings without the classic Allgrove syndrome triad.</p>","PeriodicalId":50394,"journal":{"name":"Ideggyogyaszati Szemle-Clinical Neuroscience","volume":"78 5-6","pages":"207-210"},"PeriodicalIF":0.9,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144235815","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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