Deficiency of adenosine deaminase 2 (DADA2) is a rare autosomal recessive autoinflammatory disorder manifesting with variable clinical features, including systemic inflammation, vasculopathy, and recurrent ischemic or he...Deficiency of adenosine deaminase 2 (DADA2) is a rare autosomal recessive autoinflammatory disorder manifesting with variable clinical features, including systemic inflammation, vasculopathy, and recurrent ischemic or hemorrhagic strokes. Recurrent strokes have been well-established as part of the spectrum of DADA2 in keeping with the presentation of our patient. However, movement disorders in DADA2 have not been well-described. We report a case presenting with childhood-onset recurrent febrile illness, recurrent ischemic strokes, progressive generalized dystonia, intellectual disability and vasculitic rash. Neuroimaging revealed old pontine and bilateral thalamic infarcts while blood investigations revealed elevated inflammatory markers, pancytopenia and immunodeficiency. This case highlights the importance of recognizing DADA2 as a potentially treatable cause of early-onset stroke and movement disorder, emphasizing the need for timely diagnosis and targeted therapy.
Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is an autoimmune disorder characterized by psychiatric manifestations, seizures, and dyskinesias. Neuronal intranuclear inclusion disease (NIID) presents heter...Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is an autoimmune disorder characterized by psychiatric manifestations, seizures, and dyskinesias. Neuronal intranuclear inclusion disease (NIID) presents heterogeneously with dementia, neuropathy, and episodic encephalitis-like events, typically showing bilateral corticomedullary hyperintensities on diffusion-weighted imaging (DWI). The simultaneous occurrence of these conditions is extremely uncommon, complicating diagnosis due to overlapping clinical and radiological features. We report the case of a 68-year-old female with a history of atrial fibrillation and hyperthyroidism who presented with urinary tract infection, followed by acute consciousness disturbance, left arm paresis, and pyrexia. Initial antibiotic therapy resolved symptoms, but recurrent neurological deficits ensued. Diagnostic evaluation confirmed the presence of both anti-NMDAR encephalitis, evidenced by positive serum antibodies, and NIID, supported by abnormal GGC repeat expansions in the NOTCH2NLC gene and intranuclear inclusions on skin biopsy. Brain magnetic resonance imaging demonstrated unusual unilateral cortical ribboning and corticomedullary lesions on DWI. Therapy with corticosteroids and intravenous immunoglobulin resulted in significant improvement; however, subsequent workup revealed colorectal adenocarcinoma. This case highlights the diagnostic complexity and management challenges by the rare concurrence of anti-NMDAR encephalitis and NIID.
This case report describes Landau-Kleffner syndrome (LKS) with adult-onset epilepsy in a 33-year-old man with preexisting developmental delay. We outline the clinical presentation, including language regression and seizu...This case report describes Landau-Kleffner syndrome (LKS) with adult-onset epilepsy in a 33-year-old man with preexisting developmental delay. We outline the clinical presentation, including language regression and seizures, and address the diagnostic challenges. The case highlights the importance of considering LKS in case of adult-onset epilepsy and underscores the critical role of electroencephalography, particularly the presence of continuous spike-wave activity during sleep. We also review the treatment options of LKS with adult-onset epilepsy, with the focus on the effectiveness of levetiracetam. An atypical finding of right hippocampal sclerosis on brain magnetic resonance imaging is also noted. This case contributes to the limited literature on LKS with adult-onset epilepsy and emphasizes the need for further research.
We report a 72-year-old female presenting with acute consciousness disturbance, ultimately diagnosed with Neuronal Intranuclear Inclusion Disease (NIID) masquerading as Hashimoto encephalopathy. Comprehensive evaluations...We report a 72-year-old female presenting with acute consciousness disturbance, ultimately diagnosed with Neuronal Intranuclear Inclusion Disease (NIID) masquerading as Hashimoto encephalopathy. Comprehensive evaluations revealed elevated antithyroid peroxidase antibodies, characteristic magnetic resonance imaging findings, and genetic confirmation of NIID. Corticosteroid treatment led to partial improvement, but persistent symptoms highlighted the complex presentation of NIID. This rare clinical presentation underscores the importance of thorough diagnostic approaches in complex neurological cases and the challenges in differentiating neurodegenerative disorders from autoimmune conditions. Further studies are necessary to better understand the clinical presentations of these conditions and to develop targeted treatments.
Pituitary apoplexy, defined by an acute ischemic or hemorrhagic event of the pituitary gland, can lead to neurological deficits. We present the case of a 43-year-old male who initially exhibited symptoms resembling trige...Pituitary apoplexy, defined by an acute ischemic or hemorrhagic event of the pituitary gland, can lead to neurological deficits. We present the case of a 43-year-old male who initially exhibited symptoms resembling trigeminal autonomic cephalalgia (TAC) as sudden-onset headache, ptosis, and autonomic symptoms. He later developed abducens nerve palsy and magnetic resonance imaging revealed a pituitary macroadenoma with intratumoral hemorrhage. Endocrine evaluation showed multiple hormonal deficiencies. The patient was diagnosed with pituitary apoplexy and referred for surgical intervention. This case highlights the importance of considering pituitary apoplexy in the differential diagnosis of TAC-like presentations and emphasizes the importance of neuroimaging in patients presenting atypical headaches. Early recognition and appropriate management are crucial for optimizing outcomes in this potentially life-threatening condition.
BACKGROUND: Movement-related cortical potential (MRCP) represents function of the cerebello-thalamo-cortical circuit. OBJECTIVES: To elucidate the functional role of the olivodentatorubral pathway and the cerebellum on t...BACKGROUND: Movement-related cortical potential (MRCP) represents function of the cerebello-thalamo-cortical circuit. OBJECTIVES: To elucidate the functional role of the olivodentatorubral pathway and the cerebellum on the motor cortex (M1), we analyzed MRCP in patients with Holmes' tremor, cerebellar degeneration, and healthy controls. MATERIALS AND METHODS: Three patients with Holmes' tremor in their right arms, four patients with cerebellar degeneration, and eight healthy subjects were studied. MRCP was recorded from 26 scalp Ag/AgCl cup electrodes when a self-paced, brisk voluntary extension of the wrist with a rate of every 7 s was performed. The MRCP components, including negative slope (NS') and frontal peak of the motor potential (fpMP), were analyzed. Nonparametric statistics (Mann-Whitney) were used to calculate the amplitude difference between the groups. RESULTS: Compared with the healthy control group, the Holmes' tremor group revealed a significant reduction of the fpMP amplitude in the frontal midline electrode FCZ. The reduction of the mean amplitude of NS' was found in the posterior-scalp region for right-hand movement. The cerebellum degeneration group showed a significant prolongation of the fpMP latency and a significant decrease of the fpMP amplitude. In addition, a reduced mean amplitude of the NS' on the midline and the central region contralateral to the hand movement was noted. CONCLUSIONS: Findings suggest that the cerebellum plays a pivotal role in compositing both the negative shifting before the movement onset and the motor potential (MP) after the movement onset. Its associated circuits mediating Holmes' tremor might influence only the amplitude of the MP after the movement onset.
BACKGROUND: Stroke is a leading cause of mortality and disability in Taiwan, necessitating a comprehensive understanding of its long-term impacts. OBJECTIVES: This study aims to investigate the prevalence, risk factors,...BACKGROUND: Stroke is a leading cause of mortality and disability in Taiwan, necessitating a comprehensive understanding of its long-term impacts. OBJECTIVES: This study aims to investigate the prevalence, risk factors, and progression of poststroke disabilities across motor, swallowing, cognitive, emotional, epilepsy, and quality-of-life domains. MATERIALS AND METHODS: This multicenter, prospective cohort study will recruit 2000 acute ischemic and hemorrhagic stroke patients from 14 major hospitals in Taiwan. Assessments will be conducted at baseline, 3 months, and 12 months poststroke using validated tools, questionnaires, imaging, and blood biomarkers (ClinicalTrials registered no: NCT06772194). RESULTS: Key outcomes include motor function recovery, prevalence of dysphagia, cognitive impairment, poststroke depression, and epilepsy, as well as quality-of-life measures. Advanced imaging techniques and biomarker analyses, including genome-wide association studies, will explore predictors of disability and recovery. CONCLUSIONS: This study seeks to address gaps in stroke recovery research by integrating clinical and biological data to enhance personalized stroke management. T-PODS is expected to inform strategies for reducing disability and improving long-term outcomes for stroke survivors in Taiwan, contributing to the global effort to optimize stroke care and rehabilitation.
Emerging evidence suggests that exposure to cold environments may influence Alzheimer's disease (AD) pathogenesis through interconnected vascular, inflammatory, metabolic, and thermoregulatory mechanisms. Aging impairs p...Emerging evidence suggests that exposure to cold environments may influence Alzheimer's disease (AD) pathogenesis through interconnected vascular, inflammatory, metabolic, and thermoregulatory mechanisms. Aging impairs physiological resilience to cold stress, which may exacerbate neurodegenerative processes in vulnerable individuals. This narrative review summarizes findings from epidemiological, mechanistic, and interventional studies on the relationship between cold exposure and AD. This article is a narrative review informed by a structured literature search conducted in PubMed and Scopus databases up to July 2025. Boolean operators such as ("cold exposure" OR "cold climate") AND ("Alzheimer's disease" OR "neurodegeneration") were applied. While not a systematic review, a PRISMA-style flowchart was solely for transparency, illustrating how the literature was screened. No meta-analytic methods or formal bias assessment tools were applied. Cold exposure is associated with cerebral vasoconstriction, glucose hypometabolism, sleep disruption, mitochondrial stress, and increased permeability of the blood-brain barrier. These changes promote neuroinflammation and oxidative stress, which are key contributors to the pathology of AD. Reduced brown adipose tissue with aging makes people more sensitive to cold. Apolipoprotein E (APOE) ε4 allele carriers seem to be more susceptible to these stresses. Epidemiological data support a higher dementia risk in colder climates, with seasonal and regional variations persisting after adjustment for confounders. Exposure to cold environments may act as a modifiable risk factor for AD, particularly in aging populations with impaired thermoregulation. While evidence points to plausible mechanistic links, further longitudinal and experimental studies are required. Integrating environmental variables into neurodegenerative risk models may enhance prevention strategies and support personalized interventions.
Myasthenia gravis (MG) is an autoimmune neuromuscular disorder characterized by muscle weakness and fatigue due to autoantibodies impairing neuromuscular transmission. With a global prevalence of 40-180 per million, Taiw...Myasthenia gravis (MG) is an autoimmune neuromuscular disorder characterized by muscle weakness and fatigue due to autoantibodies impairing neuromuscular transmission. With a global prevalence of 40-180 per million, Taiwan has seen a rise in MG cases from 4476 in 2013 to 5752 in 2019, with generalized MG (GMG) prevalence increasing significantly, whereas GMG patients incur substantially higher medical costs and resource utilization compared to non-MG patients. To standardize MG management, the Society formed an expert committee of 37 MG specialists and a patient representative, tasked with developing evidence-based guidelines. The committee, organized into 11 thematic subgroups, conducted a systematic review of literature from 2015 to 2024 and employed a Modified Delphi method to achieve consensus on clinical guidance statements. Recommendations cover diagnosis (e.g., antibody testing and electrophysiological tests), treatment (e.g. thymectomy, steroids, and novel biologics), and management of specific MG subtypes, including ocular, early- and late-onset, muscle-specific tyrosine kinase-related, and refractory MG, as well as myasthenic crisis and neonatal MG. The guidelines emphasize early diagnosis, integrated management of comorbidities, and long-term care strategies, including patient support and tailored exercise programs. These consensus statements aim to enhance care quality, improve patient outcomes, and guide future research and pharmaceutical development in Taiwan's medical community.
Marchiafava-Bignami disease (MBD) is a rare demyelinating disorder primarily associated with chronic alcoholism. We present a case of a nonalcoholic patient who developed acute cognitive decline secondary to severe dieta...Marchiafava-Bignami disease (MBD) is a rare demyelinating disorder primarily associated with chronic alcoholism. We present a case of a nonalcoholic patient who developed acute cognitive decline secondary to severe dietary deficiency. Magnetic resonance imaging (MRI) demonstrated an isolated, symmetric lesion in the central corpus callosum, differentiating MBD from acute infarction. Rapid improvement followed Vitamin B supplementation, emphasizing the need for early recognition and treatment. This case expands the clinical spectrum of MBD and underscores the crucial role of MRI in diagnosis and prognosis.
Cerebral venous sinus thrombosis (CVST) is a rare type of stroke with a variable presentation. Without a prompt diagnosis, subacute presentation can delay treatment with devastating results. Our case presents an unusual...Cerebral venous sinus thrombosis (CVST) is a rare type of stroke with a variable presentation. Without a prompt diagnosis, subacute presentation can delay treatment with devastating results. Our case presents an unusual clinical pattern of a young patient presenting with audio-visual hallucinations who was diagnosed with CVST. A 26-year-old man with no neurological or psychological history presented with audio-visual hallucinations, transient uncontrolled movements of his left upper extremities, and right-sided headache. Physical examination was nonfocal, and he demonstrated normal awareness, orientation, and motor function. CT angiography, CT venography (CTV) of the head, and magnetic resonance imaging of the brain were suggestive of multiple intracranial malformations versus neoplasm. The patient underwent digital subtraction angiography, which demonstrated nonocclusive thrombi in several right posterior temporal cortical veins. There was also a nonocclusive thrombus in the right sigmoid sinus. No intracranial aneurysm, arteriovenous malformation, or arteriovenous shunting was found. The patient was started on antiseizure medication as treatment for ongoing hallucinations and convulsions. After several days of intravenous heparin, the patient was transitioned to oral anticoagulant. CVST is a rare cerebrovascular disease, accounting for 0.5% of all strokes. Diagnosis is usually made in young adults with pre-existing hypercoagulable risk factors or positive family history. With symptoms such as those mentioned above, a high degree of suspicion is required to mitigate delay in diagnosis and therapy. Our case is the first documented case of a young patient with no relevant past medical history and risk factors developing hallucinations related CVST.
This article describes the case of a 68-year-old woman presenting with acute dizziness and double vision, diagnosed with wall-eyed bilateral internuclear ophthalmoplegia (WEBINO). She experienced unprovoked, nonpositiona...This article describes the case of a 68-year-old woman presenting with acute dizziness and double vision, diagnosed with wall-eyed bilateral internuclear ophthalmoplegia (WEBINO). She experienced unprovoked, nonpositional dizziness, and binocular double vision that improved with eye closure. Neurological examination showed right eye exotropia, left eye hypertropia, mild right eyelid ptosis, and impaired extraocular movements, especially in elevation and adduction. Diagnostic tests including blood work and cerebrospinal fluid analysis were largely normal, but brain magnetic resonance imagingindicated symmetric diffusion-weighted imaging brightening in the bilateral midbrain, suggesting an acute infarction. WEBINO, a rare neuro-ophthalmological disorder often linked to brainstem strokes or demyelinating diseases, is characterized by bilateral medial rectus weakness due to lesions in the medial longitudinal fasciculus. The case underscores the importance of thorough clinical and radiological evaluation in diagnosing atypical presentations of neuro-ophthalmological disorders, with management focused on treating the underlying cause and providing symptomatic relief for diplopia.
Spontaneous intracranial hypotension (SIH) is caused by leakage of cerebrospinal fluid (CSF) within the spinal column, and it is a rare risk factor for cerebral venous sinus thrombosis (CVST), which is a life-threatening...Spontaneous intracranial hypotension (SIH) is caused by leakage of cerebrospinal fluid (CSF) within the spinal column, and it is a rare risk factor for cerebral venous sinus thrombosis (CVST), which is a life-threatening condition. We present a case of SIH with further developed CVST causing intracranial hypertension. Discussions were made on the mechanisms of SIH, leading to CVST and the presentations and treatment of SIH. Clinicians should keep in mind the coexistence of CVST and SIH. Patients with CVST should be closely observed for any change in the headache pattern such as orthostatic headache, which might suggest the coexistence of SIH. This directs treatment toward the identification and management of occult CSF leaks.
Takotsubo cardiomyopathy (TCM), also known as stress cardiomyopathy, affects 0.02% of hospitalized patients and is primarily triggered by emotional stressors, although unusual medical situations have also been documented...Takotsubo cardiomyopathy (TCM), also known as stress cardiomyopathy, affects 0.02% of hospitalized patients and is primarily triggered by emotional stressors, although unusual medical situations have also been documented. We report the case of a 36-year-old female patient who presented with symptoms of infection (oropharyngeal pain and diarrhea) 10 days before admission. Upon arrival at the emergency department, she exhibited progressive weakness, lower cranial nerve involvement, and areflexia, necessitating invasive mechanical ventilation support. Diagnostic evaluation revealed sinus tachycardia and atrial fibrillation, leading to a diagnosis of Guillain-Barré syndrome (GBS) with associated cardiovascular dysautonomia. Echocardiography demonstrated apical hypokinesia of the left ventricle, consistent with TCM. Furthermore, her thyroid profile indicated hyperthyroidism, fulfilling the criteria for a thyroid storm. Treatment comprised intravenous human immunoglobulin, methimazole, and propranolol. We present the first documented case of TCM attributed to dysautonomia resulting from GBS and thyroid storm.
BACKGROUND: The insecurity and fear regarding the practice of neurology by medical students and newly graduated doctors are known as neurophobia. This condition contributes for relative paucity of neurologists and insecu...BACKGROUND: The insecurity and fear regarding the practice of neurology by medical students and newly graduated doctors are known as neurophobia. This condition contributes for relative paucity of neurologists and insecurity in the management of neurological diseases by doctors in primary health care. OBJECTIVES: Our aim is to identify the presence of neurophobia in medical students, determine its likely origin, and to propose solutions. MATERIALS AND METHODS: A cross-sectional, observational, noninterventionist, and quantitative study was performed between April 2022 and October 2023, using students in the 4th and 5th year of the medical course at university from the South of Brazil. A questionnaire was prepared using Google tool forms that were sent via a link to the academics' WhatsApp group, along with the Free and Informed Consent Form. RESULTS: The study cohort comprised 100 students (60% female) aged between 19 and 39 years (mean 23 years). About 88% agreed that neurophobia exists and 80% considered it unlikely to specialize in neurology. The factors associated with neurophobia were: phobic comments from veterans (71%); separation between basic and clinical education (62%); lesser skill of teachers in teaching neurological semiology (55%); and lack of patients in outpatient clinics (54.5%). Eighty-five percent stated that neurophobia could be avoided by teaching neurophysiology aimed at general practitioners and 63% by increasing the course load. Neurophobia was significant in >22 years of age. CONCLUSIONS: Neurophobia was present in the majority of the sample, associated with phobic comments from veterans, less skill on the part of teachers in teaching neurological semiology, separation of theoretical and practical teaching, and low course load. It is suggested that a reflection be made in the development of the neurology program that considers the training of a generalist doctor and that integrates theoretical knowledge with care activities.
In this review, the authors report on the development and discovery of atypical variants in Alzheimer's disease (AD). The behavioral variant of AD is emphasized and described in detail, in addition to its comparison with...In this review, the authors report on the development and discovery of atypical variants in Alzheimer's disease (AD). The behavioral variant of AD is emphasized and described in detail, in addition to its comparison with other variants. Furthermore, the newly developed diagnostic criteria and diagnostic approach are explained and applied for clinical practice in neurology. Principles of management and treatment for behavioral variants are highlighted. Three cases are reported to illustrate different courses of pathophysiology in behavioral variants in AD.
Chronic neuropathic pain due to injury or dysfunction of the nervous system, which intensifies as it continues, affects millions of people and remains a formidable treatment challenge in spite of a growing range of medic...Chronic neuropathic pain due to injury or dysfunction of the nervous system, which intensifies as it continues, affects millions of people and remains a formidable treatment challenge in spite of a growing range of medication choices. This neuropathy can range from mild to extreme in pain levels. In spite of several experimental and animal studies on neuropathic pain, its pathophysiologic mechanisms have not been completely understood. The pharmacotherapy for neuropathic pain has had a limited success with little or no response to commonly-used pain-reducing drugs, such as nonsteroidal anti-inflammatory drugs and opiates. Recent research efforts into pathophysiological mechanisms have revealed new treatment targets, new classification schemes have opened up novel options for individualized treatment strategies, and the implementation of several international guidelines should help to improve care of patients. This review briefly summarizes the theoretical development and experimental evidence of recent and novel emerging drug target the glutaminergic system, for neuropathic pain treatment. Sustained efforts on this novel drug target can expedite the development of lead compounds to reach the clinical stage, which will broaden our pharmacotherapeutic armaments against various debilitating, painful conditions.
Thyroid storm is a rare and life-threatening condition that develops in thyrotoxic patients with multiple systems involved. A 50-year-old woman with a history of hyperthyroidism and paroxysmal atrial fibrillation (AF) wi...Thyroid storm is a rare and life-threatening condition that develops in thyrotoxic patients with multiple systems involved. A 50-year-old woman with a history of hyperthyroidism and paroxysmal atrial fibrillation (AF) without regular treatment presented with acute left limb weakness and slurred speech. Electrocardiography indicated AF with a rapid ventricular rate of 165 beats per minute. Chest radiography revealed cardiomegaly with bilateral pleural effusion. The patient received thrombolytic therapy at 78 min after symptom onset. Brain computed tomography angiography revealed normal results. Laboratory tests revealed elevated free thyroxine, triiodothyronine, antithyroid-stimulating hormone (TSH) receptor antibody, and reduced TSH content. We immediately initiated intravenous digoxin, oral propranolol, and propylthiouracil. Echocardiography revealed global left ventricular hypokinesia. Recurrent fatal large infarction involving the bilateral hemispheres resulted in coma with quadriplegia on day 3. Thyroid storm should be diagnosed with early as possible. Simultaneous treatment of ischemic stroke and thyroid storm is challenging.