{"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}
{"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}
{"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}
{"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}
Frederick P. Mariajoseph, Leon T. Lai, Justin Moore, Ronil V. Chandra, Tony Goldschlager, Adrian Praeger, Daniel Yu, Lee-Anne Slater
{"title":"Incidence of contrast-induced neurotoxicity following endovascular treatment of unruptured intracranial aneurysms: a single-centre cohort study","authors":"Frederick P. Mariajoseph, Leon T. Lai, Justin Moore, Ronil V. Chandra, Tony Goldschlager, Adrian Praeger, Daniel Yu, Lee-Anne Slater","doi":"10.1007/s13760-024-02643-5","DOIUrl":"10.1007/s13760-024-02643-5","url":null,"abstract":"<div><h3>Background</h3><p>Contrast-induced neurotoxicity (CIN) is a recognised complication of endovascular procedures and has been increasingly observed in recent years. Amongst other clinical gaps, the precise incidence of CIN is unclear, particularly following intracranial interventional procedures.</p><h3>Methods</h3><p>A retrospective study of consecutive patients undergoing elective endovascular treatment of unruptured intracranial aneurysms (UIAs) was performed. Patients with previously ruptured aneurysms were excluded. The primary aim of this study was to determine the incidence of CIN following endovascular UIA treatment. Our secondary aim was to isolate potential predictive factors for developing CIN.</p><h3>Results</h3><p>From 2017 to 2023, a total of 158 patients underwent endovascular UIA treatment, with a median age of 64 years (IQR: 54–72), and 70.3% of female sex. Over the study period, the crude incidence of CIN was 2.5% (95% CI: 0.7 – 6.4%). The most common clinical manifestation of CIN was confusion (75%) and seizures (50%). Statistical analysis was conducted, and prolonged procedural duration was found be significantly associated with developing CIN (OR 12.55; <i>p</i> = 0.030).</p><h3>Conclusion</h3><p>Clinicians should be aware of the risk of CIN following endovascular neurointervention, particularly following technically challenging cases resulting in prolonged procedural time.</p></div>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":"124 6","pages":"1989 - 1994"},"PeriodicalIF":2.0,"publicationDate":"2024-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://link.springer.com/content/pdf/10.1007/s13760-024-02643-5.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142338991","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Cranial nerve palsies in leprosy: a systematic review of published case reports and case series.","authors":"Ravindra Kumar Garg, Parul Jain, Swastika Suvirya, Neeraj Kumar, Ravi Uniyal, Praveen Kumar Sharma","doi":"10.1007/s13760-024-02644-4","DOIUrl":"https://doi.org/10.1007/s13760-024-02644-4","url":null,"abstract":"<p><strong>Background: </strong>In leprosy, peripheral nerve involvement is well-documented, cranial nerve impairment in leprosy is less frequently reported, often through isolated case reports. This review aims to elucidate the pattern and spectrum of cranial nerve involvement in leprosy patients, enhancing understanding about pathogenesis and management.</p><p><strong>Methods: </strong>Adhering to PRISMA guidelines, we conducted a systematic review of case reports and series documenting cranial nerve involvement in leprosy. Searches were performed across PubMed, Scopus, Embase, and Google Scholar up to February 2, 2024, without language restrictions.</p><p><strong>Results: </strong>We identified 40 documents reporting on 49 patients, with a mean age of 41.3 years and a predominance of male patients (87.6%). Cranial nerve involvement included the trigeminal nerve (28.6%), facial nerve (38.8%), and instances of multiple cranial nerve palsies (10.2%). Magnetic resonance imaging findings indicated nerve T2/FLAIR hyperintensity/enhancements. Neuroimaging abnormalities extended up to brain stem. Approximately 30% of patients experienced lepra reactions, with 51% showing improvement following treatment. Following mutidrug therapy (MDT), neuroimaging abnormalities were vanished.</p><p><strong>Conclusion: </strong>Cranial nerve involvement in leprosy primarily affects the trigeminal and facial nerves, with multiple cranial nerves also being implicated. Exaggerated inflammation during lepra reaction involve nerve trunks and/or brainstem nuclei.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142339070","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}