Acta neurologica Belgica最新文献

Background: 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.

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.

Background: 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.

Methods: 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.

Results: 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; p = 0.030).

Conclusion: Clinicians should be aware of the risk of CIN following endovascular neurointervention, particularly following technically challenging cases resulting in prolonged procedural time.

Background: 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.

Methods: 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.

Results: 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.

Conclusion: 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.

Background: This study aimed to investigate the treatment efficacy and clinical and demographic characteristics affecting treatment success in patients who underwent ultrasound (US)-guided pulsed radiofrequency (PRF) to the maxillary and/or mandibular nerves for trigeminal neuralgia.

Methods: The data of patients with trigeminal neuralgia who underwent US-guided maxillary and/or mandibular nerve PRF between September 2022 and December 2023 were reviewed and the study was retrospectively designed. Good analgesia was defined as ≥ 50% reduction in pain score at 3 months after the procedure, and the demographic and clinical characteristics of the patients were assessed.

Results: Among the 72 included patients, 39 (54.2%) and 33 (45.8%) were classified as responders and non-responders, respectively. The age, pre- and post-procedural Numerical Rating Scale (NRS) scores, pain duration, and presence of constant pain were significantly lower in the responders. Logistic regression analysis revealed that older age (OR = 0.899, p < 0.001), high pre-procedural NRS scores (OR = 0.177, p = 0.009) and non-idiopathic (secondary or classic) etiology (OR = 0.062, p = 0.048) were significantly associated with an unsuccessful response to maxillary/mandibular PRF treatment.

Conclusion: This study is the first clinical trial to evaluate the efficacy of PRF therapy of the maxillary and mandibular nerves in the treatment of trigeminal neuralgia and demonstrated a significant reduction in pain scores at 3 months. Older age, high pre-procedural NRS scores, and non-idiopathic (secondary or classical) etiology are independent predictors of poor response to ultrasound-guided maxillary/mandibular nerve pulse radiofrequency treatment.

Background: Primary central nervous system lymphoma (PCNSL) is a rapidly growing malignant tumor that typically shows sensitivity to high-dose methotrexate-based chemotherapy. Rapid diagnosis and early chemotherapy are thus essential to obtain the best outcome. To accomplish this, we have performed intraoperative rapid immunohistochemistry (IHC) as an examination method for obtaining accurate diagnosis during surgery. Here, to markedly enhance the accuracy of intraoperative rapid IHC, the utility of adding intraoperative rapid examinations of cytology and flow cytometry (FCM) in addition to rapid IHC was investigated.

Methods: From April 2020 to January 2024, we performed intraoperative rapid IHC in 35 patients with intracranial lesions, including PCNSL. In the last 17 of these cases, intraoperative cytology and FCM were also performed simultaneously. We examined the utility of examination methods in determining treatment strategies for brain tumors, particularly early therapeutic intervention for PCNSL.

Results: Postoperative final pathological diagnoses from paraffin-embedded sections were as follows: 20 PCNSLs, 9 glioblastomas, 4 diffuse gliomas, 1 meningioma, and 1 inflammatory disorder. In all cases, results from intraoperative rapid IHC were consistent with final pathological diagnoses from paraffin-embedded sections. In two cases, results from conventional intraoperative rapid pathological diagnoses based on morphological assessments using frozen sections changed with the addition of intraoperative rapid IHC. Further, the time from surgery to initiation of chemotherapy for PCNSL was significantly reduced by adding cytology and FCM to rapid IHC alone (only rapid IHC group: 7.3 days, combination group: 1.6 days; p = 0.015).

Conclusions: The combination of rapid intraoperative IHC, cytology, and FCM contributes to deciding appropriate treatment strategies and facilitating early initiation of chemotherapy for PCNSL. These examination methods may allow new therapeutic strategies for not only PCNSL, but also other brain tumors.