Acta neurologica Belgica最新文献

Septo-optic dysplasia with associated closed lip schizencephaly: "SOD-plus syndrome".

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2025-01-24 DOI: 10.1007/s13760-025-02733-y

Aswen Sriranganathan, Rahul A Sharma

引用次数: 0

Reversible globus pallidus lesions secondary to severe anemia caused by acute myeloid leukemia.

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2025-01-23 DOI: 10.1007/s13760-025-02722-1

Laura Castro, Bruno Niemeyer, Edson Marchiori

引用次数: 0

XII paralysis impersonating tongue swelling following internal carotid artery dissection. 颈内动脉夹层后假性舌肿麻痹。

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2025-01-22 DOI: 10.1007/s13760-025-02731-0

Mélodie Felix, Aude Lagier, Frédérique Depierreux, Axel Boyer, Géraldine Dasnoy-Sumell

引用次数: 0

What does it mean when the pleasant smells come and go? Correlation between UPSIT odor identification status and fluctuation of non-motor symptoms in Parkinson's disease. 宜人的气味来来去去是什么意思？帕金森病患者UPSIT气味识别状态与非运动症状波动的相关性

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2025-01-22 DOI: 10.1007/s13760-025-02727-w

Hsin-Bei Lei, Ting-Chun Fang, Yu-Hsuan Lin, Shih-Chi Chiu, Ming-Hong Chang, Yi-Jen Guo

{"title":"What does it mean when the pleasant smells come and go? Correlation between UPSIT odor identification status and fluctuation of non-motor symptoms in Parkinson's disease.","authors":"Hsin-Bei Lei, Ting-Chun Fang, Yu-Hsuan Lin, Shih-Chi Chiu, Ming-Hong Chang, Yi-Jen Guo","doi":"10.1007/s13760-025-02727-w","DOIUrl":"https://doi.org/10.1007/s13760-025-02727-w","url":null,"abstract":"Parkinson's disease (PD) is characterized by motor and non-motor symptoms, including olfactory dysfunction. Prior studies have shown that olfaction deteriorates with disease progression, however fluctuations in olfaction and related PD symptoms have been less explored. This study aimed to investigate correlations between changes in odor identification ability and PD symptoms. PD patients recruited from Taichung Veterans General Hospital underwent at least two consecutive Movement Disorder Society Unified Parkinson's Disease Rating Scale (MDS-UPDRS) and University of Pennsylvania Smell Identification Test (UPSIT) evaluations. The patients were grouped based on changes in olfactory identification ability between evaluations, and fluctuations in PD symptoms were compared between groups. Ninety-seven PD patients with 114 complete sets of data were analyzed. Significant divergent results were observed between changes in five MDS-UPDRS non-motor subscores and the conversion status of five pleasant odors, including anxiety vs. bubble gum, apathy vs. banana, dizziness vs. coconut, urination vs. root beer, and dopamine dysregulation syndrome (DDS) vs. grape. Fluctuations in the ability to detect pleasant odors, may have a complex interaction with other non-motor symptoms, including in the neurobehavioral and autonomic domains. Serial monitoring of olfactory function, particularly with pleasant odors, may provide valuable insights for tracking non-motor symptoms in PD and warrants further investigation into their therapeutic implications.","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142998316","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 unique case of cutaneous tuberculosis of the scalp with extensive intracranial invasion from sub Saharan Africa. 一个独特的病例皮肤结核的头皮与广泛的颅内侵犯从撒哈拉以南非洲。

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2025-01-22 DOI: 10.1007/s13760-025-02730-1

Jeroen Kerstens, Adnan Mehboob Sadiq, Lulyritha C Kini, Happiness Kumburu, Marieke Dekker

引用次数: 0

Correlations between the blink reflex and magnetic resonance imaging in patients with trigeminal neuralgia. 三叉神经痛患者眨眼反射与磁共振成像的相关性研究。

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2025-01-22 DOI: 10.1007/s13760-025-02729-8

Mahmut Sami Biçimveren, Ömer Karadaş, Ferhat Cüce

{"title":"Correlations between the blink reflex and magnetic resonance imaging in patients with trigeminal neuralgia.","authors":"Mahmut Sami Biçimveren, Ömer Karadaş, Ferhat Cüce","doi":"10.1007/s13760-025-02729-8","DOIUrl":"https://doi.org/10.1007/s13760-025-02729-8","url":null,"abstract":"Background: Trigeminal neuralgia is a disease characterized by severe facial pain that significantly reduces patients quality of life. Trigeminal neuralgia is subcategorized as idiopathic, classic or secondary. Magnetic resonance imaging is the basis for classification, but neurophysiological tests are also used. Magnetic resonance imaging provides neuroanatomical information and neurophysiological testing provides physiological information about the trigeminal nerve.Methods: Thirty volunteer patients who were diagnosed with trigeminal neuralgia according to the ICHD-3 diagnostic criteria and met the exclusion and inclusion criteria were included. Blink reflex testing was performed after posterior fossa magnetic resonance imaging. Magnetic resonance imaging was evaluated blindly to avoid bias by one radiologist experienced in neuroradiology.Results: The blink reflex was determined to be abnormal in 26.7% (n = 8) and normal in 73.3% (n = 22) of the patients included in the study. Magnetic resonance imaging revealed no contact with the trigeminal nerve in 53.3% (n = 16) of the patients, whereas 46.7% (n = 14) of the patients had contact with nerves in the cisternal segment. The blink reflex has sensitivity 42.9% and specificity 87.5%, accuracy value of 66.7%, positive predictive value of 75% and negative predictive value of 63.6% with respect to symptomatic mechanic contact.Conclusion: The blink reflex is a neurophysiologic test that is well tolerated by patients, cost-effective and highly specific in the context of nerve contact in patients with trigeminal neuralgia. The blink reflex is particularly important in the follow-up and evaluation of trigeminal neuralgia patients for whom magnetic resonance imaging is contraindicated.","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142998314","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

Orolingual myorhythmia, the "frog sac" sign.

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2025-01-22 DOI: 10.1007/s13760-025-02732-z

Roberto Leal-Ortega, José Fidel Baizabal-Carvallo

引用次数: 0

Zellweger spectrum disorder presenting with opsoclonus-myoclonus-ataxia syndrome: a case report on immunotherapy. 齐薇格谱系障碍表现为虚阵-肌阵-共济失调综合征：免疫治疗一例报告。

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2025-01-18 DOI: 10.1007/s13760-025-02724-z

Mustafa Kılıç, Harun Yıldız, Bahadır Konuskan

{"title":"Zellweger spectrum disorder presenting with opsoclonus-myoclonus-ataxia syndrome: a case report on immunotherapy.","authors":"Mustafa Kılıç, Harun Yıldız, Bahadır Konuskan","doi":"10.1007/s13760-025-02724-z","DOIUrl":"https://doi.org/10.1007/s13760-025-02724-z","url":null,"abstract":"Introduction: Zellweger spectrum disorder (ZSD) refers to a group of autosomal recessive genetic disorders that affect multiple organ systems and are predominantly caused by pathogenic variants in PEX genes. ZSD present a wide clinical spectrum, ranging from the most severe form, Zellweger syndrome, to the mildest form, Heimler syndrome.Case report: A 14-month-old male patient was brought to our clinic with recent-onset ocular tremors and unsteady gait. Based on the preliminary suspicion of an infection-related autoimmune disease, the patient received intravenous immunoglobulin (IVIG) and pulse steroid therapy. Although initial clinical improvement was observed in opsoclonus and ataxia, ocular symptoms later recurred. Peroxisomal profile revealed elevated plasma levels of phytanic acid, pristanic acid, and very long-chain fatty acids (C26), raising suspicion for ZSD. Consequently, dietary restrictions for very long-chain fatty acids, phytanic acid, and pristanic acid, along with vitamin supplementation (A, D, E, and K), were initiated. Molecular genetic testing identified a homozygous c.2528G > A, p.(Gly843Asp) pathogenic variant in the PEX1 gene, confirming the diagnosis.Conclusion: Zellweger spectrum disorder presents with a wide range of clinical manifestations. While no effective treatment currently exists, a diet restricted in very long-chain and branched-chain fatty acids, supplementation with vitamins A, D, E, and K, and bile acid therapy are commonly used. In our patient, IVIG and pulse steroid therapy were administered due to a preliminary suspicion of an autoimmune process, resulting in a short-term partial clinical response. To our knowledge, the use of immunotherapy in ZSD has not been previously reported in the literature.","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142998318","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 fatal cerebral air embolism in a patient with Osler-Weber-Rendu Disease. 奥斯勒-韦伯-伦度病致死性脑空气栓塞1例。

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2025-01-18 DOI: 10.1007/s13760-025-02726-x

Aude Mahaux, Madeleine Scrivener, Susana Ferrão-Santos, Ludovic Gérard, João Pinto Pereira

引用次数: 0

The combination of central vein sign, cortical lesions, and paramagnetic rim lesions for differentiating MOGAD from MS: a case report. 结合中央静脉征象、皮质病变和顺磁边缘病变鉴别MOGAD与MS: 1例报告。

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2025-01-18 DOI: 10.1007/s13760-024-02717-4

Serena Borrelli, Pietro Maggi

引用次数: 0