Search Results (58)

Background: Botulism is a rare but potentially fatal neuroparalytic illness caused by Clostridium botulinum neurotoxins (BoNTs). While adult cases usually result from foodborne exposure or wound infection, intestinal colonization is exceedingly uncommon. Diagnosis can be delayed by overlap with other neuromuscular syndromes, and confirmation requires specialized assays. Anti-GQ1b antibodies, classically associated with Miller–Fisher syndrome (MFS), have rarely been reported in confirmed botulism, raising questions about shared pathophysiology. Case Presentation: We describe an adult patient with acute dyspnea, xerostomia, and cranial neuropathies. No foodborne source was identified, but intestinal colonization of BoNT/B toxigenic Clostridium botulinum was confirmed by stool enrichment and mouse lethality bioassay. The patient improved promptly following heptavalent antitoxin. Unexpectedly, anti-GQ1b antibodies were detected during recovery, a finding typically linked to MFS rather than botulism. Discussion: This case illustrates the diagnostic challenges of sporadic cases of botulism, especially when respiratory compromise and autonomic dysfunction dominate the initial presentation. The autoantibodies finding raises the possibility of molecular mimicry, whereby toxin–ganglioside interactions expose neuronal epitopes and trigger an immune response. While causality cannot be proven, the overlap between botulism and GQ1b-positive neuropathies merits further investigation. Conclusions: Clinicians should maintain high suspicion for botulism in adults with acute dyspnea, especially when associated with cranial neuropathies, even in the absence of foodborne exposure. Anti-ganglioside antibodies in this context should be interpreted with caution, as they do not exclude botulism but may highlight immunological overlap with autoimmune neuropathies. Full article

A 30-year-old previously healthy man presented with fever and headache. HIV tests yielded negative results. Cerebrospinal fluid (CSF) analysis revealed pleocytosis (619/µL), elevated protein (210.3 mg/dL) and adenosine deaminase levels, and decreased glucose levels. A positive CSF culture for tuberculosis confirmed the patient had tuberculous meningitis (TBM). He was treated with methylprednisolone, isoniazid, rifampicin, pyrazinamide, and ethambutol (all highly sensitive). His compliance with medication was good. After six weeks of treatment, he was discharged in stable condition. Eight weeks after onset, he was readmitted with vertigo and right deafness. CSF examination showed worsened pleocytosis (819/µL) and protein levels (4296.1 mg/dL). Contrast-enhanced MRI revealed enhancement of meninges in the brainstem and spinal cord as well as the right vestibulocochlear nerve. No brain abscesses were observed. Based on these findings, a paradoxical reaction (PR) with vestibulocochlear neuritis following antituberculous therapy initiation was suspected. He received oral prednisolone, leading to rapid resolution of vestibulocochlear symptoms within two days. Although cranial nerve enhancement due to PR has been mentioned in the literature, specific imaging demonstrating it is scarce. This case highlights PR as a cause of cranial neuropathy in TBM and provides clear radiological evidence of direct inflammatory spread to the vestibulocochlear nerve, bridging a gap in the current literature. Full article

Background/Objectives: Tumors of the cerebellopontine angle (CPA) encompass a limited range of histologies, predominantly vestibular schwannomas (VSs), meningiomas, and paragangliomas (PGLs). Their growth region threatens the cranial nerves (V–XII), brainstem, and cerebellum, possibly causing functional deficits. This review aims to synthesize clinical features and multidisciplinary treatment strategies for CPA tumors with brainstem involvement, emphasizing functional preservation alongside tumor control. Methods: A systematic PubMed search identified studies on VSs, CPA meningiomas, and intradural PGLs. Eligibility criteria included studies reporting tumor management and cranial nerve outcomes. Data extraction focused on tumor size, neurological presentation, surgical approach, adjunctive therapies, and postoperative cranial nerve function. Multidisciplinary involvement and rehabilitation strategies were noted. Results: Twenty studies (3311 patients) analyzed large VSs, showing facial nerve dysfunction in 8–53%, trigeminal neuropathy in 20–77%, and cerebellar signs in up to 79%. Microsurgery (MS) achieved variable gross total resection, while stereotactic radiosurgery (SRS) preserved facial nerve function but carried trigeminal and hydrocephalus risks. CPA meningiomas demonstrated cranial nerve displacement patterns critical for surgical planning, with transient deficits common and recovery linked to baseline function. In 388 intradural PGL cases, staged surgery combined with preoperative embolization was standard; functional preservation of lower cranial nerves was often limited. Across all histologies, multidisciplinary management and targeted rehabilitation were essential. Conclusions: Optimal CPA tumor management balances tumor control with functional preservation. VSs benefit from individualized MS or SRS based on size and mass effect. Meningioma surgery prioritizes cranial nerve preservation over radical resection. Intradural PGLs require staged vascular-conscious approaches. Multidisciplinary care and structured rehabilitation are pivotal to improving outcomes and quality of life. Full article

Background/Objectives: Trochlear nerve palsy (TNP) is a clinically significant neuro-ophthalmic disorder with a broad and heterogeneous etiologic spectrum. Due to the trochlear nerve (TN)’s long intracranial course and its proximity to key neurosurgical corridors, it is particularly susceptible to injury. This systematic review aimed to synthesize contemporary evidence on TNP etiologies and highlight diagnostic considerations. Methods: Following PRISMA 2020 guidelines (PROSPERO registration: CRD420251150614), we systematically searched PubMed through July 2025 for studies reporting TNP etiologies. Given substantial heterogeneity in study populations and methodologies, a qualitative synthesis was performed examining study characteristics, patient demographics, etiological distribution, and clinical outcomes. Results: Thirty-three studies (n = 5785) met the inclusion criteria. Reported etiologies clustered into seven categories: congenital, vascular/ischemic, infectious/inflammatory, structural, traumatic, iatrogenic, and idiopathic. Congenital cases frequently demonstrated absence of the TN or superior oblique hypoplasia. Microvascular ischemia predominated in older adults with vascular risk factors and typically exhibited spontaneous recovery. Structural lesions (e.g., tumors, aneurysms) and trauma were major acquired causes, often associated with more persistent deficits. Iatrogenic palsy predominantly followed skull base and petroclival procedures; most cases resolved, although lasting dysfunction occurred after complex or radiosurgical interventions. A proportion of cases remained idiopathic, and many resolved spontaneously. Conclusions: TNP displays a broad etiologic spectrum with distinct clinical profiles and prognostic trajectories. Accurate etiologic classifications supported by targeted neuroimaging and focused clinical evaluation are essential for optimizing management and informing neurosurgical decision-making. Full article

Background/Objective: Riboflavin transporter deficiency (RTD) is a rare neurodegenerative disease, with under 500 cases genetically confirmed since the early 2000s. Thus far, three separate subtypes of RTD2 are described—type 1, 2 and 3—but, previously, RTD was classified as two separate genetic defects: Brown–Vialetto–Van Laere syndrome and Fazio–Londe syndrome, caused by mutations in the SLC52A2 and SLC52A3 genes, respectively. The most prominent symptoms found in patients include encephalopathy, expressed as peripheral and cranial nerve neuropathy, which in turn lead to a series of complications: decreased muscle strength, hypotonia, visual impairment, sensorineural hearing loss, bulbar palsy, sensory ataxia and respiratory insufficiency secondary to diaphragmatic paresis. At the cellular level, riboflavin is modified into active flavin cofactors: FMN, mediating riboflavin phosphorylation through riboflavin kinase, and FAD, involved in FMN adenylation through the flavin dinucleotide 1 synthesis. FMN and FAD are two of approximately 100 proteins collectively described as the ‘flavoproteome’. Most of them are mitochondrial oxidoreductases, catalyzing the electron transport in many metabolic reactions, as well as regulating important cell processes, such as the production of reactive oxygen species, protein conformation and damage repair. FMN and FAD are also responsible for the conversion of B6 and B9 vitamins into their active forms, which allows for healthy cell growth and immune function. Methods: In this article, the authors describe two children, a 6-year-old girl and her 5-year-old sister, both presenting with RTD2 caused by mutations in the SLC52A2 gene (c.916G>C (p.Gly306Arg); c.477C>G (p.Cys159Trp)), in whom the disease progression was successfully inhibited by vitamin B₂ supplementation in varying doses. Results: Their clinical image consists of psychomotor developmental delay, ataxia, horizontal nystagmus, hearing loss and a lack of visual fixation. Conclusions: The phenotype and clinical signs presented by the described sisters are further discussed in relation to the previously published reports of RTD2 cases. Full article

(1) Background: Cranial neuropathy is a commonly encountered condition with various underlying etiologies. While carotid artery dissection (CAD) is a well-recognized cause of ischemic stroke, CAD-related cranial neuropathy is rare and poorly characterized. We have conducted a comprehensive review of the published literature to better characterize its clinical course and outcomes. (2) Methods: We systematically reviewed the PubMed, CENTRAL, Ovid MEDLINE, and Embase literature for CAD-related cranial neuropathy. Data extracted included demographics, affected cranial nerves, symptoms, time course, diagnostic approach, and therapeutic interventions. (3) Results: From 635 screened studies, 97 met the inclusion criteria, yielding data on 108 patients with CAD- or dissecting pseudoaneurysm (dPSA)-related cranial neuropathy. The hypoglossal nerve (CN XII) was most commonly affected (76%), and the distal cervical internal carotid artery was the most frequently involved segment (89%). Most patients (90%) were treated with antithrombotic therapy which included either antiplatelets (47%) or anticoagulants (43%). Thirteen patients (12%) underwent endovascular intervention, nearly all with a diagnosed dPSA (mean size, 14.8 mm). Outcomes were favorable, with 94% experiencing symptom improvement. (4) Conclusions: Despite inherent limitations, our study demonstrates that CAD-related cranial neuropathy is typically a benign condition that has excellent outcomes with medical management. Endovascular treatment is rarely performed and is primarily reserved for cases involving diagnosed dPSA. Full article

Introduction: Tympanojugular paragangliomas (TJ-PGs) showing intradural growth into the cerebellopontine angle (Fisch classification Di) represent a surgical challenge, with their proper surgical management still under debate. Methods: This is an international multicenter retrospective review of patients with Di TJ-PGs who underwent surgery in three high-volume skull base surgery centers. We aimed to establish practice patterns for treating Di TJ-PGs, namely the surgical approach, total versus partial resection, and whether a staged procedure was needed. We also examined the status of the facial and lower cranial nerves (LCNs), postoperative complications, and residue management after partial resection. Results: Thirty-two patients were included in this study with an average follow-up of 66 months. Preoperative angiography with selective embolization was performed in all patients, and a type A infratemporal fossa approach was the most common surgical technique. Total resection was achieved in 16 cases. A single-stage procedure was performed in 26 patients and a staged procedure in 6. CSF leakage in the neck was the main reported complication. Most patients had an HB I-II-grade facial nerve at the last follow-up, and three patients experienced worsened lower cranial neuropathies. In 16 patients residual disease was present after surgery and was managed with either radiotherapy or observation. Conclusions: Di TJ-PGs pose a complex treatment challenge for which clear-cut management recommendations have not been established. Surgical resection, when indicated, may be total, the preferred option in young healthy candidates, or partial, mainly employed in elderly or high-risk patients, always considering the tumor’s relationship to critical structures. When residual tumor is present, both radiological surveillance and adjuvant radiotherapy can be effective strategies. Full article

Guillain–Barré syndrome (GBS) is the most common acute inflammatory motor polyneuropathy. It affects all age groups, but the incidence increases with increasing age. Before manifesting with neurological symptoms, it is usually preceded by a prodromal phase of infection, most commonly respiratory or gastrointestinal. Pathologically, it is a post-infection immune disorder. The immune response is due to mimicry between the infecting agent and axolemmal surface molecules, which triggers an acute immune injury that leads to blockade of nerve conduction. Age-related decline in immune function plays a role in the increased prevalence and severity of GBS in older people. Typical neurological manifestations are ascending paralysis, areflexia and cranial nerve involvement, but sensory loss is uncommon. In up to 25% of cases, autonomic dysfunction occurs, which includes cardiovascular, sudomotor, gastrointestinal or genitourinary symptoms. The development of autonomic dysfunction in GBS is associated with poor prognosis. We report a case of a 78-year-old man who presented with a predominant autonomic dysfunction that led to a delay in the diagnosis. Because of the multiple morbidities associated with old age, the diagnosis of GBS presentation with autonomic dysfunction, without the typical neurological clinical pattern, may be attributed to the existing comorbidities. Therefore, clinical suspicion and close monitoring with respect to the development of autonomic dysfunction, from the first day of hospital admission, are important. The main diagnostic tests are cerebrospinal fluid analysis looking for protein–cell dissociation and nerve conduction studies to confirm the neuropathy. Treatment involves general supportive care, specific immunological intervention by intravenous immunoglobulins or plasma exchange courses and neurorehabilitation. Severe cases may require intensive care admission and mechanical ventilation. More than 80% of cases will fully recover, but 10% may have residual disability, with mortality estimated at 3–7%. Older age, multiple morbidities, severe weakness, autonomic dysfunction and the need for mechanical ventilation are poor prognostic factors. Full article

Objectives: Neurosarcoidosis (NS) is a severe and infrequent complication of sarcoidosis. Available data on NS are variable. We aimed to characterize NS epidemiology, clinical and therapeutic characteristics in a well-defined cohort of NS patients. Methods: Observational population-based cohort study of 342 patients diagnosed with sarcoidosis in Northern Spain, between 1999 and 2019. Among them, those patients who fulfilled the Consortium Consensus Group diagnosis criteria for NS were included. The annual incidence between 1999 and 2019 was estimated by gender, age, and year of diagnosis. Additionally, a literature review was performed. Therapeutic efficacy was evaluated using the neurological-related extra-pulmonary physician organ severity tool (ePOST). Results: NS was diagnosed in 29 out of 342 patients with sarcoidosis (8.5%; 18 women/11 men) with a mean age of 42.3 ± 15.1 years. Most NS patients have associated systemic sarcoidosis (93.4%) mainly consisting of lung (n = 22; 75.9%), articular (n = 15; 51.7%) and/or ocular (n = 12; 40%) involvement. The annual incidence of NS during the study period was 1.1 per 1,000,000 people. There is a linear relationship with a weak decrease in age at diagnosis over time. NS was subdivided into chronic headache (n = 11; 36.7%), cranial neuropathy (n = 7; 24.1%), myelitis (n = 4; 13.8%), peripheral neuropathy (n = 3; 10.3%), cranial neuropathy with chronic headache (n = 3; 10.3%) and aseptic meningitis (n = 2; 6.9%). Twenty-five patients (86.2%) received oral glucocorticoids (mean ± SD maximum prednisone dose 49.6 ± 19.4 mg/day). In addition, conventional immunosuppressive drugs were administered to 17 (58.6%) patients and biological therapy to 12 (41.4%) patients. After 12 months of initiating biological therapy, 14 out of 17 patients (82.4%) achieved complete remission, defined as an ePOST score of 0. Severe allergic reaction was observed in only one patient who had received treatment with both Infliximab and Adalimumab. Conclusions: The epidemiological, clinical and treatment characteristics of NS in Northern Spain are similar to that of other countries. Full article

Background: Metachromatic leukodystrophy (MLD) is a rare autosomal recessive disorder that causes demyelination of both the central (CNS) and peripheral nervous systems (PNS). Objective: This study aims to report a unique MLD case presenting with cranial neuropathies and ataxia, initially without white matter changes on MRI, leading to diagnostic uncertainty. Results: A 20-month-old presented with bilateral abduction deficits, facial diplegia, and ataxia, raising the possibility of an acquired demyelinating condition. An MRI scan showed the enhancement of multiple cranial nerves, but normal white matter. A follow-up MRI showed new white matter changes that spared the U-fibers, suggesting a leukodystrophy. Biochemical assays were suggestive of metachromatic leukodystrophy, which was confirmed with genetic testing demonstrating a homozygous c.848+3A > G variant in ARSA. Conclusions: Our patient suggests that the initial presentation of MLD may mimic an acquired demyelinating condition and manifest with multiple cranial nerve palsies before more typical white matter changes evolve. Full article

The causative agent of Lyme disease, Borrelia burgdorferi, is endemic to Canada, the northeastern United States, northern California, and temperate European regions. It is rarely associated with a travel-related exposure. In this report, we describe a resident of southern Ontario, Canada who developed rash, fever, and cranial nerve VII and XII palsies following a 12 day trip to Ecuador and the Galapagos islands approximately four weeks prior to referral to our center. Comprehensive microbiological work-up was notable for reactive Borrelia burgdorferi serology by modified two-tier testing (MTTT), confirming a diagnosis of Lyme disease. This case highlights important teaching points, including the classic clinical presentation of acute Lyme disease with compatible exposure pre-travel in a Lyme-endemic region of Ontario, initial manifestations during travel following acquisition of arthropod bites in Ecuador, and more severe manifestations post-travel. Given the travel history to a South American country in which Lyme disease is exceedingly uncommon, consideration of infections acquired in Ecuador necessitated a broad differential diagnosis and more comprehensive microbiological testing than would have been required in the absence of tropical travel. Additionally, cranial nerve XII involvement is an uncommon feature of Lyme neuroborreliosis, and therefore warranted consideration of an alternative, non-infectious etiology such as stroke or a mass lesion, both of which were excluded in this patient through neuroimaging. Full article

Objective: The aim of this study was to systematically review the existing individual patient data in the literature on adult cerebellopontine angle (CPA) medulloblastoma (MB) and characterize the patient presentation, management strategies used, and oncological outcomes of this rare entity to guide future clinical practice. Methods: Following PRISMA guidelines, a systematic review was conducted by searching PubMed, EMBASE, Web of Science, and Cochrane databases from inception to 19 June 2024. Studies regarding adult patients with histologically confirmed MB radiographically confirmed to be located in the CPA were included. Clinical data were synthesized, and predictors of outcomes were evaluated. Results: Twenty-seven studies with 42 adult CPAMB patients were included. The median age was 32 years (range: 19–56). Headaches (81%), cranial neuropathy (90%), cerebellar dysfunction (79%), and nausea/vomiting (50%) were typical presenting features. The predominant histological subtype was the classic variant. Maximal safe surgical resection was performed, most commonly using a retrosigmoid approach, and 60% of cases received a gross total resection. Most patients received adjuvant treatment (93%), typically chemoradiotherapy. The recurrence rate was 11% after a median of 18 months of follow-up. Relatively high survival rates of 96%, 85%, and 85% were observed at 1, 3, and 5 years, respectively. Patients who received adjuvant therapy had significantly better recurrence and greater overall survival outcomes. Conclusions: These results support the consideration of MB in young adult patients presenting with CPA tumors with radiographical features suggestive of hypercellularity and the utilization of a management strategy of maximal safe resection plus post-operative craniospinal irradiation along with chemotherapy to optimally treat these rare patients. Full article

Rare side effects of immune-checkpoint inhibitors (ICIs) are known as neurological immune-related adverse events (n-irAEs). Typically, n-irAEs affect the peripheral nervous system, primarily presenting as myositis, polyradiculoneuropathy, or cranial neuropathy. Less commonly, they impact the central nervous system, resulting in encephalitis, meningitis, or myelitis. High-grade n-irAEs managing and recognizing remains challenging, considering the risk of mortality and long-term disability. To date, strong scientific data are lacking to support the management of high-grade clinical forms. We performed a systematic literature search, selecting all articles describing high-grade steroid-resistance n-irAEs. and we reported them in a practical review. Specifically, current recommendations advise stopping ICI use and beginning corticosteroid treatment. Our findings highlighted that in steroid-resistant n-irAEs, it should be recommended to quickly escalate to plasma exchange (PLEX) and/or intravenously immunoglobulins (IVIg), usually in association with other immunosuppressants. Furthermore, newer evidence supports the use of drugs that may specifically block inflammation without reducing the anti-tumour effect of ICIs. In this practical review, we provide new evidence regarding the therapeutic approach of high-grade n-irAEs, particularly in steroid-resistant cases. We would also stress the importance of informing the scientific community of the discrepancy between current guidelines and clinical evidence in these rare forms of pathology. Full article

The hypoglossal nerve is the last, and often neglected, cranial nerve. It is mainly responsible for motor innervation of the tongue and therefore the process of chewing and articulation. However, tumors, aneurysms, dissections, trauma, and various iatrogenic factors such as complications after surgeries, radiotherapy, or airway management can result in dysfunction. Correct differential diagnosis and suitable treatment require a thorough knowledge of the anatomical background of the region. This review presents the broad spectrum of hypoglossal neuropathies, paying particular attention to these with a compressive background. As many of these etiologies are not common and can be easily overlooked without prior preparation, it is important to have a comprehensive understanding of the special relations and characteristic traits of these medical conditions, as well as the most common concomitant disorders and morphological traits, influencing the clinical image. Due to the diverse etiology of hypoglossal neuropathies, specialists from many different medical branches might expect to encounter patients presenting such symptoms. Full article

Background: Auditory neuropathy (AN) is a hearing disorder that affects neural activity in the VIIIth cranial nerve and central auditory pathways. Progressive forms have been reported in a number of neurodegenerative diseases and may occur as a result of both the deafferentiation and desynchronisation of neuronal processes. The purpose of this study was to describe changes in auditory function over time in a patient with axonal neuropathy and to explore the effect of auditory intervention. Methods: We tracked auditory function in a child with progressive AN associated with Charcot–Marie–Tooth (Type 2C) disease, evaluating hearing levels, auditory-evoked potentials, and perceptual abilities over a 3-year period. Furthermore, we explored the effect of auditory intervention on everyday listening and neuroplastic development. Results: While sound detection thresholds remained constant throughout, both electrophysiologic and behavioural evidence suggested auditory neural degeneration over the course of the study. Auditory brainstem response amplitudes were reduced, and perception of auditory timing cues worsened over time. Functional hearing ability (speech perception in noise) also deteriorated through the first 1.5 years of study until the child was fitted with a “remote-microphone” listening device, which subsequently improved binaural processing and restored speech perception ability to normal levels. Conclusions: Despite the deterioration of auditory neural function consistent with peripheral axonopathy, sustained experience with the remote-microphone listening system appeared to produce neuroplastic changes, which improved the patient’s everyday listening ability—even when not wearing the device. Full article