Pub Date : 2024-10-04DOI: 10.1007/s13760-024-02649-z
Aaron de Souza
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.
{"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}
Pub Date : 2024-10-04DOI: 10.1007/s13760-024-02646-2
Shreyashi Jha, Santosh Pendyala
{"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}
Pub Date : 2024-10-03DOI: 10.1007/s13760-024-02650-6
Hanxuan Wang, Hailiang Shi, Kuo Zhang, Yang Li, Jianwei Shi, Penghu Wei, Tao Qian, Guoguang Zhao
Background: 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.
Methods: 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.
Results: 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 (χ2 = 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 (χ2 = 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).
Conclusion: 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.
{"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}
Pub Date : 2024-09-30DOI: 10.1007/s13760-024-02604-y
David Crosiers, Katerina Markopoulou
{"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":"10.1007/s13760-024-02604-y","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":"124 5","pages":"1749 - 1759"},"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}
Hyponatremia can present with various neurological manifestations ranging from altered mental status to cerebral herniation and death. However, cerebellar symptomatology has been rarely reported.
Case Presentation
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.
Discussion
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.
{"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":"10.1007/s13760-024-02648-0","url":null,"abstract":"<div><h3>Background</h3><p>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><h3>Case Presentation</h3><p>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><h3>Discussion</h3><p>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></div>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":"124 6","pages":"2071 - 2073"},"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}
Ocular flutter is a neurological disorder characterized by irregular, rapid horizontal eye movements and is often associated with autoimmune diseases, infections, drug intoxication, or paraneoplastic syndromes. The brain regions involved in ocular flutter have not been definitively determined. Sulfatide is an acidic glycolipid crucial for maintaining myelin sheath integrity and neuronal transmission. Antibodies against sulfatide can disrupt neuronal signals, and their formation is linked to autoimmune conditions such as Guillain–Barré syndrome and GALOP syndrome. To our knowledge, no pediatric cases of ocular flutter associated with sulfatide antibody-positive neuropathy have been reported.
Case description
A 15-year-old male with no medical history presented with oscillopsia and blurred vision. His prenatal, natal, and developmental history were unremarkable. Neurological examination revealed rapid, low-amplitude horizontal saccadic oscillations (ocular flutter) with no other neurological abnormalities. Extensive testing, including MRI of the brain and spine; blood tests; lumbar puncture; and screenings for viral, bacterial, and autoimmune conditions, returned normal or negative results. A high titer of anti-sulfatide IgM antibodies was detected. The patient was treated with intravenous immunoglobulin (IVIG), which led to complete resolution of ocular flutter. At the 3-month follow-up, his neurological examination was normal, and he remained asymptomatic with monthly IVIG infusions.
Conclusion
This is the first reported case of ocular flutter associated solely with anti-sulfatide antibody positivity. This finding underscores the importance of considering sulfatide antibody testing in atypical or treatment-resistant cases of ocular flutter. The resolution of symptoms following IVIG treatment suggests its potential effectiveness in managing sulfatide antibody-positive conditions. Further research is needed to explore the role of sulfatide antibodies in ocular flutter and the benefits of targeted immunotherapy.
{"title":"A case of ocular flutter associated with sole anti-sulphatide antibody positivity: successful treatment with intravenous immunoglobulin in a pediatric patient","authors":"Merve Akcay, Safiye Günes Sager, Aysin Tuba Kaplan, Omar Alomari, Yasemin Akin","doi":"10.1007/s13760-024-02645-3","DOIUrl":"10.1007/s13760-024-02645-3","url":null,"abstract":"<div><h3>Background</h3><p>Ocular flutter is a neurological disorder characterized by irregular, rapid horizontal eye movements and is often associated with autoimmune diseases, infections, drug intoxication, or paraneoplastic syndromes. The brain regions involved in ocular flutter have not been definitively determined. Sulfatide is an acidic glycolipid crucial for maintaining myelin sheath integrity and neuronal transmission. Antibodies against sulfatide can disrupt neuronal signals, and their formation is linked to autoimmune conditions such as Guillain–Barré syndrome and GALOP syndrome. To our knowledge, no pediatric cases of ocular flutter associated with sulfatide antibody-positive neuropathy have been reported.</p><h3>Case description</h3><p>A 15-year-old male with no medical history presented with oscillopsia and blurred vision. His prenatal, natal, and developmental history were unremarkable. Neurological examination revealed rapid, low-amplitude horizontal saccadic oscillations (ocular flutter) with no other neurological abnormalities. Extensive testing, including MRI of the brain and spine; blood tests; lumbar puncture; and screenings for viral, bacterial, and autoimmune conditions, returned normal or negative results. A high titer of anti-sulfatide IgM antibodies was detected. The patient was treated with intravenous immunoglobulin (IVIG), which led to complete resolution of ocular flutter. At the 3-month follow-up, his neurological examination was normal, and he remained asymptomatic with monthly IVIG infusions.</p><h3>Conclusion</h3><p>This is the first reported case of ocular flutter associated solely with anti-sulfatide antibody positivity. This finding underscores the importance of considering sulfatide antibody testing in atypical or treatment-resistant cases of ocular flutter. The resolution of symptoms following IVIG treatment suggests its potential effectiveness in managing sulfatide antibody-positive conditions. Further research is needed to explore the role of sulfatide antibodies in ocular flutter and the benefits of targeted immunotherapy.</p></div>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":"124 6","pages":"2063 - 2065"},"PeriodicalIF":2.0,"publicationDate":"2024-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142339068","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}
We present two cases of a 23-years and 32-years old female respectively, who presented with recurrent seizures, ataxia, dysarthria, psychomotor slowing. Magnetic resonance imaging (MRI) of the brain in the first patient revealed T2/FLAIR hyperintensity in the bilateral thalamus and cerebellar white matter with diffusion restriction, with no contrast enhancement. In the second patient, magnetic resonance imaging of brain showed FLAIR hyperintensity in precuneus while CSF showed raised HSV IgG titre on first presentation leading to suspicion of infective etiology. The initial differential diagnosis included autoimmune, metabolic and demyelinating causes. However, routine laboratory investigations, cerebrospinal fluid analysis, and autoimmune panel and demyelination workup were inconclusive. Considering the possibility of a genetic-mediated metabolic disorder, genetic testing was carried out leading to the identification of the Trp748Ser variation in POLG gene associated with mitochondrial DNA depletion syndrome. These cases highlight the diagnostic challenges and complexities in identifying rare metabolic encephalopathy, emphasizing the importance of a multidisciplinary approach in such cases.
{"title":"‘The phenotypic conundrum of Trp748Ser variant in POLG gene: a report of two patients’","authors":"Abhishek Rathore, Gautham Arunachal, Rohan R. Mahale, Hansashree Padmanabha, Pooja Mailankody","doi":"10.1007/s13760-024-02640-8","DOIUrl":"10.1007/s13760-024-02640-8","url":null,"abstract":"<div><p>We present two cases of a 23-years and 32-years old female respectively, who presented with recurrent seizures, ataxia, dysarthria, psychomotor slowing. Magnetic resonance imaging (MRI) of the brain in the first patient revealed T2/FLAIR hyperintensity in the bilateral thalamus and cerebellar white matter with diffusion restriction, with no contrast enhancement. In the second patient, magnetic resonance imaging of brain showed FLAIR hyperintensity in precuneus while CSF showed raised HSV IgG titre on first presentation leading to suspicion of infective etiology. The initial differential diagnosis included autoimmune, metabolic and demyelinating causes. However, routine laboratory investigations, cerebrospinal fluid analysis, and autoimmune panel and demyelination workup were inconclusive. Considering the possibility of a genetic-mediated metabolic disorder, genetic testing was carried out leading to the identification of the Trp748Ser variation in <i>POLG</i> gene associated with mitochondrial DNA depletion syndrome. These cases highlight the diagnostic challenges and complexities in identifying rare metabolic encephalopathy, emphasizing the importance of a multidisciplinary approach in such cases.</p></div>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":"124 6","pages":"2059 - 2062"},"PeriodicalIF":2.0,"publicationDate":"2024-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142338994","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}
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