{"title":"Repurposing doxycycline for a case of CONDSIAS Syndrome with a novel ADPRHL2 missense mutation.","authors":"Hosein Eslamiyeh, Mohammad Yahya Vahidi Mehrjardi, Negareh Poursalehi, Masoud Dehghan Tezerjani","doi":"10.1007/s13760-024-02664-0","DOIUrl":"https://doi.org/10.1007/s13760-024-02664-0","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142455447","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}
Di Nora Alessandra, La Cognata Daria, Nannola Chiara, Greco Filippo, Pavone Piero
{"title":"Myopathy as a rare presentation of celiac disease in a child.","authors":"Di Nora Alessandra, La Cognata Daria, Nannola Chiara, Greco Filippo, Pavone Piero","doi":"10.1007/s13760-024-02659-x","DOIUrl":"https://doi.org/10.1007/s13760-024-02659-x","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142455531","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}
Federico Tosto, Giuseppe Magro, Vincenzo Laterza, Marina Romozzi
{"title":"Neurological manifestations of hypermagnesemia: a narrative review.","authors":"Federico Tosto, Giuseppe Magro, Vincenzo Laterza, Marina Romozzi","doi":"10.1007/s13760-024-02653-3","DOIUrl":"https://doi.org/10.1007/s13760-024-02653-3","url":null,"abstract":"<p><p>Hypermagnesemia is a rare but potentially fatal electrolyte disorder. High serum magnesium levels have been associated with the development of neurological manifestations such as dysautonomia, muscle weakness, respiratory failure, and altered level of consciousness from drowsiness to coma. Although rare, some subjects, such as those with chronic renal failure and those taking magnesium supplements or medications, are at risk of developing this condition. Recognizing this electrolyte alteration promptly allows for an immediate initiation of a therapeutic strategy that is often resolutive when addressed in time. This paper aims to review the neurological complications associated with hypermagnesemia, their pathophysiology, and management.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142399062","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}
{"title":"Hemidystonia-hemiatrophy syndrome following placement of internal carotid artery flow diverter stent.","authors":"Aaron de Souza","doi":"10.1007/s13760-024-02649-z","DOIUrl":"https://doi.org/10.1007/s13760-024-02649-z","url":null,"abstract":"<p><p>We report hemidystonia and cerebral hemiatrophy in a 39-year old woman beginning three months after placement of an internal carotid artery flow diverting stent for supraclinoid aneurysm, complicated by early post-procedural stroke. We highlight the unusual demographics and short latency to onset, as well as the occurrence of striatal mineralisation, which may reflect ongoing neurodegeneration, but has also been suggested to contribute to oxidative neuronal injury. The late age of the inciting cerebral insult and of onset of the movement disorder, temporal course, and relation to endovascular intervention serve to expand the spectrum of this unusual condition.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142370704","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}
{"title":"A Unique Case of Hypophysitis in Tolosa Hunt Syndrome.","authors":"Shreyashi Jha, Santosh Pendyala","doi":"10.1007/s13760-024-02646-2","DOIUrl":"https://doi.org/10.1007/s13760-024-02646-2","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142370703","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}
Hanxuan Wang, Hailiang Shi, Kuo Zhang, Yang Li, Jianwei Shi, Penghu Wei, Tao Qian, Guoguang Zhao
{"title":"Clinical analysis of abnormal muscle response monitoring for hemifacial spasm during microvascular decompression: a retrospective study.","authors":"Hanxuan Wang, Hailiang Shi, Kuo Zhang, Yang Li, Jianwei Shi, Penghu Wei, Tao Qian, Guoguang Zhao","doi":"10.1007/s13760-024-02650-6","DOIUrl":"10.1007/s13760-024-02650-6","url":null,"abstract":"<p><strong>Background: </strong>Microvascular decompression (MVD) is a widely recognized therapeutic approach for the treatment of hemifacial spasm (HFS). Abnormal muscle response (AMR) is a distinctive electromyographic finding exclusively in patients with HFS. The purpose of our investigation was to determine the correlation between changes in intraoperative AMR and surgical efficacy, as well as the incidence of postoperative complications in patients with HFS after undergoing MVD.</p><p><strong>Methods: </strong>In this retrospective study, we evaluated 145 patients with HFSs treated with MVD, which was maintained for 1 year postoperatively. The subjects were divided into two groups based on the persistence or disappearance of AMR. Continuous monitoring of AMR during surgery provided data on persistence. All patients were followed up 1 day, 30 days, and 1 year after MVD. A range of potential predictive factors, such as patient demographics, symptom duration, and morphology and latency of AMR, were analyzed using binary logistic regression to assess their relationship with postoperative non-cure and delayed cure rates.</p><p><strong>Results: </strong>The 1 day postoperative cure rate was 77.9%, with a 1 year postoperative cure rate of 94.59% and 1 day postoperative relief rate of 87.6%. A marked distinction was noted between preoperative and 1 year postoperative Cohen grades (P < 0.05). Moreover, 1 day after surgery, the outcome demonstrated significant variability, as shown by the binary logistic regression model (χ<sup>2</sup> = 62.913, P < 0.05). The results suggested that factors such as age, symptom duration, disappearance of AMR, and preoperative carbamazepine treatment markedly influence outcomes 1 day after surgery. The binary logistic regression model for delayed cure at 1 year showed significant variability (χ<sup>2</sup> = 54.883, P < 0.05). Furthermore, analysis using generalized estimating equations revealed that the duration of postoperative follow-up significantly impacted Cohen grades, as did the disappearance of AMR, with the grade of AMR disappearance being only 10% of that of non-AMR disappearance (P < 0.05).</p><p><strong>Conclusion: </strong>Our findings suggest that MVD is an effective intervention for HFS. Our findings also indicate that factors such as patient age, duration of symptoms, disappearance of AMR, and preoperative carbamazepine therapy are significant predictors of 1 day postoperative cure rate. Major predictors for delayed cure at 1 year include age, symptom duration, AMR disappearance, preoperative carbamazepine and botulinum neurotoxin administration, single morphology AMR, and offending vertebral artery.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142363861","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}
{"title":"Proceedings of the 18th annual meeting of the Genetic Epidemiology of Parkinson's disease consortium.","authors":"David Crosiers, Katerina Markopoulou","doi":"10.1007/s13760-024-02604-y","DOIUrl":"https://doi.org/10.1007/s13760-024-02604-y","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142338993","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}
{"title":"Encephalopathy with cerebellar deficits in a context of hyponatremia.","authors":"Vasilis-Spyridon Tseriotis, Calypso Mitkani, Frideriki Lioliou, Dimitrios Thomas, Kiriaki Eleftheriadou","doi":"10.1007/s13760-024-02648-0","DOIUrl":"https://doi.org/10.1007/s13760-024-02648-0","url":null,"abstract":"<p><strong>Background: </strong>Hyponatremia can present with various neurological manifestations ranging from altered mental status to cerebral herniation and death. However, cerebellar symptomatology has been rarely reported.</p><p><strong>Case presentation: </strong>A 53-year-old male with a history of diabetes mellitus type 2, hypothyroidism, and anxiety disorder presented with impaired level of consciousness and ataxia. His laboratory tests were consistent with sepsis (staphylococcus aureus in blood culture), hyponatremia with euvolemia, low serum and high urine osmolarity. Brain computerized tomography revealed diffuse cerebral edema. Antibiotics and sodium replenishment were initiated. A lumbar puncture and subsequent investigations ruled out alternative etiologies (metabolic, autoimmune, paraneoplastic and other infectious causes). Repeated brain magnetic resonance imaging excluded osmotic demyelination syndromes. After serum sodium restoration his symptoms gradually improved.</p><p><strong>Discussion: </strong>We highlight reversible cerebellar ataxia as a rare manifestation of hyponatremia, in the context of sepsis and possible syndrome of inappropriate antidiuretic hormone ADH release. Extensive diagnostic work-up is essential for the exclusion of other diagnoses.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142339071","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}