Postirradiation carotid stenosis (PIRCS) has emerged as a unique and challenging subtype of carotid stenosis (CS), which threatens patients with significantly worse outcomes even after aggressive intervention. Compared w...Postirradiation carotid stenosis (PIRCS) has emerged as a unique and challenging subtype of carotid stenosis (CS), which threatens patients with significantly worse outcomes even after aggressive intervention. Compared with nonirradiated CS patients, PIRCS patients face a shorter in-stent restenosis-free survival time after percutaneous transluminal angioplasty and stenting. This distinct behavior of PIRCS likely stems from radiation-induced endothelial changes, accelerated atherosclerosis, and potentially increased inflammatory responses. Furthermore, atypical lesions in the carotid arteries, which often occur in tandem and unusual locations, can complicate the diagnosis and treatment planning. Consequently, understanding the unique pathophysiology and clinical presentation of PIRCS is crucial for choosing optimal treatments and improving patient outcomes in this vulnerable population. In this review, we describe the basic features and unique characteristics of PIRCS. Some potentially novel treatment approaches are also discussed.
Dravet syndrome (DS) is a severe and rare developmental epileptic encephalopathy and genetic epilepsy characterized by the onset of seizures before 1 year of age, typically prolonged generalized tonic-clonic or hemicloni...Dravet syndrome (DS) is a severe and rare developmental epileptic encephalopathy and genetic epilepsy characterized by the onset of seizures before 1 year of age, typically prolonged generalized tonic-clonic or hemiclonic seizures, specific triggers such as vaccination, high body temperature, or photic stimulation, and normal development before seizure onset. It was proposed in 1989 and confirmed as a genetic epilepsy in 2001 due to SCN1A gene mutations. The seizures are pharmacoresistant, and the prognosis is poor. Comorbidities include movement disorders, intellectual disabilities, behavioral and psychiatric issues, and a high risk of sudden unexpected death in epilepsy (SUDEP). Despite significant advances in understanding the natural course of DS and its pathophysiological mechanisms, management remains difficult. Current treatments, including various antiseizure medications and neuromodulation therapies, rarely achieve complete seizure freedom and fail to prevent cognitive decline. The review aims to summarize the advancements in diagnosis, optimal management, and the prognosis of DS into adulthood while discussing the ongoing challenges, unresolved needs, and potential areas for future research. In addition, it highlights the importance of early intervention, prognostic factors, and the critical need for effective management strategies beyond seizure control, encompassing cognitive preservation, SUDEP prevention, and addressing sleep problems.
Erysipelothrix rhusiopathiae is a rare cause of infective endocarditis (IE). This study aims to report the fifth known case of intracranial manifestation resulting from E. rhusiopathiae endocarditis. Moreover, we aim to...Erysipelothrix rhusiopathiae is a rare cause of infective endocarditis (IE). This study aims to report the fifth known case of intracranial manifestation resulting from E. rhusiopathiae endocarditis. Moreover, we aim to address the main epidemiological and clinical aspects associated with this issue. A 62-year-old retired bird breeder presented with left-sided appendicular ataxia and hemiparesis. Diagnostic tests revealed endocarditis caused by E. rhusiopathiae . He received a 6-week antibiotic course, including ampicillin, which resulted in neurological and cardiac improvement. Follow-ups demonstrated no recurrence, and he was discharged from both neurology and cardiology 1 year later. The low virulence of the E. rhusiopathiae pathogen explains the minimal frequency of intracranial manifestations associated with the infection. However, patient's overall condition is a decisive factor in this context. This is the first reported case concerning presumed transmission by birds. Physical manifestations are more commonly found in IE involving the mitral valve compared to the aortic and tricuspid valves. Even with appropriate treatment, mortality from endocarditis associated with E. rhusiopathiae can exceed 38%. Furthermore, IE by this microorganism often causes extensive valve damage. The positive outcome of this case emphasizes the significance of prompt recognition and appropriate management. This report highlights the need for clinical awareness regarding E. rhusiopathiae as an etiological agent for IE and its potential complications, including stroke.
Harlequin syndrome (HS) is a rare autonomic nervous system disorder caused by blockage of the unilateral upper-thoracic sympathetic pathway that provides vasomotor and sudomotor supply to the face. Infection and the subs...Harlequin syndrome (HS) is a rare autonomic nervous system disorder caused by blockage of the unilateral upper-thoracic sympathetic pathway that provides vasomotor and sudomotor supply to the face. Infection and the subsequent immune response cascade are proposed as triggers for arterial occlusion due to microvascular ischemia, underlying the pathophysiology of HS in adult cases. We report this unusual case to inform readers about the possibility of causation and pathophysiological pathway of HS in post-COVID-19 infection. An 82-year-old male patient developing HS post-COVID-19 infection, presented with sudden left-hemifacial redness 4 days before admission, with similar recurrent complaints ten times since his resolved symptomatic COVID-19. Other physical and neurological examinations are regular. Laboratory results showed mild microcytic hypochromic anemia with D-dimer five-folds higher than normal limits. D-dimer fluctuated elevation during HS attacks is a sign of inflammatory process and increased thromboembolic risk in a long-COVID. The patient's history of chronic hypercholesterolemia with old lacunar infarction in the brain's frontal lobes suggested worsening microvascular disturbance. The patient was diagnosed as HS in post-COVID-19. To the author's knowledge, this is the first reported HS case in Indonesia and the second HS case post-COVID-19. Moreover, we also provide a schematic approach to the possible pathological process of HS in post-COVID-19. Post-COVID-19 infection is highly possible causing HS because of its persistent pathological inflammation leading to dysautonomic sympathetic fibers. However, its involvement in a specific pathophysiological pathway that disturbs the cervical sympathetic chain and causes HS, without presenting as systemic dysautonomia, should be further investigated.
BACKGROUND: Hereditary spastic paraplegia (HSP) type 10 (SPG10) is an autosomal-dominantly inherited disease caused by pathogenic variants in KIF5A , presenting as either pure or complex HSP. OBJECTIVES: This study aims...BACKGROUND: Hereditary spastic paraplegia (HSP) type 10 (SPG10) is an autosomal-dominantly inherited disease caused by pathogenic variants in KIF5A , presenting as either pure or complex HSP. OBJECTIVES: This study aims to investigate the clinical and genetic features of KIF5A variants in a Taiwanese cohort diagnosed with HSP. MATERIALS AND METHODS: We analyzed KIF5A coding regions in 219 unrelated Taiwanese patients clinically diagnosed with HSP using a targeted resequencing panel. Clinical, electrophysiological, and neuroimaging features of patients with SPG10 were characterized. RESULTS: Only one (0.5%) patient carried a heterozygous KIF5A variant, c.838C>T (p.Arg280Cys). This patient had a complex HSP phenotype with sensorimotor polyneuropathy, neuropathic pain, appendicular ataxia, and late disease onset at 39 years. Three family members also carried the variant, with one presented with HSP and two with axonal polyneuropathy, diagnosed as axonal Charcot-Marie-Tooth disease (CMT2). CONCLUSIONS: SPG10 is a rare HSP subtype in the Taiwanese population. This is the first report of SPG10 in Taiwan, highlighting the coexistence of SPG10 and CMT2 within a single family and the significant intra-familial phenotypic variation.
This case report aims to discuss the prompt recognition and the possible mechanism of acute cauda equina syndrome (CES) following intrathecal bupivacaine administration for cesarean section. A 30-year-old primigravida de...This case report aims to discuss the prompt recognition and the possible mechanism of acute cauda equina syndrome (CES) following intrathecal bupivacaine administration for cesarean section. A 30-year-old primigravida developed sudden-onset bilateral lower-extremity weakness, numbness, and paresthesia, along with urinary and bowel incontinence, after an uncomplicated cesarean delivery under spinal anesthesia. Magnetic resonance imaging revealed engorgement and gadolinium enhancement of the cauda equina nerve roots, consistent with a diagnosis of CES. The patient was immediately started on high-dose intravenous steroids and intrathecal triamcinolone, followed by intensive inpatient rehabilitation. However, despite maximal medical treatment, the patient exhibited only minimal improvement, with persistent neurological deficits and dysfunction. This case highlights the importance of maintaining a high index of suspicion for CES following intrathecal bupivacaine administration and the need for prompt recognition and multidisciplinary management to optimize maternal outcomes. Understanding the potential mechanisms underlying bupivacaine-induced neurotoxicity, including direct nerve toxicity, vascular changes, and synergistic effects, may guide the development of targeted therapeutic strategies to mitigate this devastating complication. Early spinal imaging, high-dose steroid therapy, and a collaborative approach involving obstetrics, anesthesiology, neurology, and rehabilitation services are crucial for the successful management of acute CES.
BACKGROUND: The relationship between homocysteine (Hcy) levels and the risk of stroke has been extensively investigated, yet conclusive evidence remains elusive. OBJECTIVES: This study aims to conduct a systematic review...BACKGROUND: The relationship between homocysteine (Hcy) levels and the risk of stroke has been extensively investigated, yet conclusive evidence remains elusive. OBJECTIVES: This study aims to conduct a systematic review and meta-analysis to determine the association between higher Hcy levels and the risk of stroke, including its types and subtypes. MATERIALS AND METHODS: A comprehensive literature search was conducted in PubMed, MEDLINE, Google Scholar, EMBASE, and the Cochrane Library databases to identify relevant studies published up to April 30, 2024. We included case-control studies that examined the association of Hcy levels with risk of stroke and its types. Pooled standardized mean difference (SMD) with 95% confidence intervals (CIs), publication bias, trial sequential analysis (TSA), and quality assessment was conducted. RESULTS: A total of 96 studies were included in the analysis: 83 studies on ischemic stroke (IS), 17 studies on Trial of ORG 10172 in Acute Stroke Treatment (TOAST) subtypes of IS, and 12 studies on hemorrhagic stroke (HS). The meta-analysis revealed a significant association between Hcy levels and risk of IS (SMD = 1.35, 95% CI = 1.14-1.55), TOAST subtypes of IS (SMD = 1.48, 95% CI = 1.03-1.92), and HS (SMD = 1.14, 95% CI = 0.68-1.59). TSA indicated that total sample sizes provided sufficient power (80%) to support findings: IS (n = 33,715), TOAST subtypes of IS (n = 5,655), and HS (n = 4,287). CONCLUSIONS: High Hcy levels are significantly associated with an increased risk of stroke, including its types and subtypes. These findings underscore the potential of Hcy as predictive marker for stroke risk. Future research should focus on strategies for detecting hyperhomocysteinemia and lowering elevated Hcy levels in high-risk individuals, which may contribute to stroke prevention.
BACKGROUND: Juvenile Myoclonic Epilepsy (JME) is one of the most common idiopathic generalized epilepsies, typically emerging during adolescence. Despite its characteristic clinical and EEG features, diagnosis may someti...BACKGROUND: Juvenile Myoclonic Epilepsy (JME) is one of the most common idiopathic generalized epilepsies, typically emerging during adolescence. Despite its characteristic clinical and EEG features, diagnosis may sometimes be delayed. OBJECTIVES: The aim of this study is to determine the frequency of juvenile myoclonic epilepsy (JME) among generalized epilepsies in children and the issues that should not be overlooked in its clinical course. MATERIALS AND METHODS: This retrospective cross-sectional study was conducted between 2017 and 2019 at Necmettin Erbakan University Meram Faculty of Medicine, Department of Pediatric Neurology, Electroencephalography (EEG) Unit. A total of 300 patients with generalized epilepsy were studied. A total of 3600 EEG recordings were evaluated in detail by the same pediatric neurologist. RESULTS: JME was detected in 8% of the patients; 80% of the patients were female, 20% were male, median age was 15 years (6-17 years), 44% of the patients had a family history of seizures, and 68% had parental consanguinity. Late diagnosis was observed in 4% of JME patients. The most common myoclonic seizures in both groups consisted of eyelid twitching, continuous hand tremor, and accidental dropping of an object in the hand. The mean time from first seizure to correct diagnosis was 2 years (1-6 years). CONCLUSIONS: This study demonstrates that in patients with undiagnosed generalized epilepsy in childhood, seizure characteristics should be assessed through a thorough review of their medical history and careful monitoring during clinical follow-up to accurately determine the true incidence of JME.
Spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases characterized by inherited progressive cerebellar ataxia with or without other associated features. The clinical presentations of these affected SC...Spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases characterized by inherited progressive cerebellar ataxia with or without other associated features. The clinical presentations of these affected SCA patients are very heterogeneous. Genetic testing has been performed in the Taiwanese population to determine the prevalence of SCAs in Taiwan. In general, the diseases can be classified as those caused by tandem repeats and those with conventional mutations. Among the SCAs caused by tandem repeats, polyglutamine SCAs, including SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17, are prevalent in Taiwan and worldwide. Other SCAs caused by non-CAG tandem repeats that have been investigated in Taiwan include SCA8, SCA12, SCA31, and SCA36. However, SCA12 and SCA31 seem either rare or absent in the Taiwanese population. On the other hand, there are SCAs caused by point mutations, duplications, insertions, and deletions. Taiwanese cases with SCAs related to ITPR1 gene mutations, SCA19/22, SCA28, SCA35, SCA47, and SCA48 have been studied and published. To generate a whole picture of SCAs in Taiwan, in this review, we summarized the prevalence of SCAs and described the characteristics of less common types of SCAs in Taiwanese patients.
Butane is a colorless and inflammable gas widely available in daily lives, such as liquefied petroleum gas and fuels for cigarette lighters and camping stoves. It could be misused for recreational purposes, which occasio...Butane is a colorless and inflammable gas widely available in daily lives, such as liquefied petroleum gas and fuels for cigarette lighters and camping stoves. It could be misused for recreational purposes, which occasionally leads to mortality and morbidity, including symptoms presumably due to hypoxic encephalopathy. A 34-year-old male with a butane abuse history for 6 years presented with fever, change in consciousness, and seizures. Magnetic resonance imaging of the head showed hyperintensity lesions in the bilateral medial thalamus, hypothalamus, infundibular wall, and periaqueductal gray, typical for Wernicke encephalopathy. After conservative treatment, he was discharged with the sequelae of mental impairment and Parkinsonism. Being abstained from butane for about 1 month, he had a new onset of gait disturbance with slow orthostatic tremor in the lower limbs. Butane encephalopathy may present with brain images typical of Wernicke encephalopathy and a clinical course of delayed deterioration, resembling that of hypoxic encephalopathy.
The ventriculoperitoneal shunt (VPS) procedure is known to be a risk factor for subdural hematoma (SDH), although it is uncommon. The development after possible cerebrospinal fluid overdrainage and stretching of bridging...The ventriculoperitoneal shunt (VPS) procedure is known to be a risk factor for subdural hematoma (SDH), although it is uncommon. The development after possible cerebrospinal fluid overdrainage and stretching of bridging veins facilitates the further expansion of the hematoma, thus provoking intracranial symptoms and often necessitates surgical treatment. However, in the case of complications, the incidence of SDH post-VPS insertion is not well documented, especially in Indonesia. We reported a case of a 59-year-old previously healthy Indonesian male with sudden right-side extremity weakness and dysarthria 2 months post-VPS procedure as the treatment for long-standing overt ventriculomegaly in adults. History of head trauma and oral anticoagulant consumption was denied. As his mental state deteriorated, he also presented with a high fever; therefore, suspicion of cerebritis was raised and was later confirmed to be subacute SDH after a second radiology scan, prompting further surgical intervention. Burr-hole drainage was done, and the patient was discharged from the hospital with a favorable outcome. This case demonstrated that subdural accumulation of the blood may occur following VPS insertion, most likely caused by a sudden pressure release following the procedure. The near-misdiagnosis of subacute SDH proves a challenging diagnosis in such an underreported case.
Reversible cerebral vasoconstriction syndrome (RCVS) is generally recognized as an intracranial pathology. Involvement of the extracranial segments of the carotid or vertebral arteries (VAs) is rare. Here, we present a c...Reversible cerebral vasoconstriction syndrome (RCVS) is generally recognized as an intracranial pathology. Involvement of the extracranial segments of the carotid or vertebral arteries (VAs) is rare. Here, we present a case of postpartum RCVS with extracranial VA involvement. A 31-year-old female developed postpartum thunderclap headaches with neck pain, followed by generalized seizures. The patient had been healthy with an uncomplicated pregnancy and delivery. Head computed tomography showed minimal right frontal convexity subarachnoid hemorrhage. Transcranial color-coded sonography disclosed increased mean flow velocity in multiple arteries, consistent with vasoconstriction, while the extracranial Doppler study revealed an abrupt change in the diameter of the left VA, indicative of dissection or vasospasm. Brain magnetic resonance imaging demonstrated nonenhancing T2/fluid-attenuated inversion recovery hyperintensities involving bilateral occipital, parietal, and frontal regions, with normal diffusion-weighted imaging signals, suggesting vasogenic edema. Magnetic resonance angiography showed multifocal segmental vasoconstriction of cerebral arteries, along with multiple irregular luminal narrowing of bilateral extracranial VAs. T1 fat-suppressed images revealed no features indicative of arterial dissection. The patient was treated with nimodipine as she was diagnosed with postpartum RCVS with extracranial artery involvement and concomitant posterior reversible encephalopathy syndrome. During an outpatient follow-up 1 month after discharge, she reported complete resolution of symptoms. It is crucial to acknowledge that cervical artery vasoconstriction, while rare, remains a possibility in RCVS. In patients having significant multiple extracranial artery vasoconstriction, even when they are the main or even the only arteries involved, RCVS should always be taken into consideration.
Kikuchi-Fujimoto disease (KFD) rarely involves the central or peripheral nervous system, including the cerebellum. Herein, we present a case of KFD, describing its notable clinical findings, diagnostic approach, manageme...Kikuchi-Fujimoto disease (KFD) rarely involves the central or peripheral nervous system, including the cerebellum. Herein, we present a case of KFD, describing its notable clinical findings, diagnostic approach, management, and outcome. A 23-year-old woman received a diagnosis of KFD 5 months before being admitted to our hospital. She presented with fever, headache, and painful cervical lymphadenopathy; low-dose prednisolone (15 mg/day) was administered. She complained of explosive occipital headaches that awakened her in the middle of the night for 2 weeks. Vertigo/dizziness with projectile vomiting was also noted, followed by double vision, unsteady gait, and slower response on the day of admission. Neurological examination revealed drowsy consciousness, bilateral abducens palsy, scanning speech, left limb dysmetria, and truncal ataxia with marked neck stiffness. Brain magnetic resonance imaging (MRI) revealed focal swelling of the left cerebellum and leptomeningeal enhancement. Cerebrospinal fluid measurements revealed extremely high opening pressure (60 cm H 2 O) and lymphocyte-predominant pleocytosis. No other autoimmune or microbiological etiology was identified. We used dexamethasone (20 mg/day) and mannitol for symptomatic treatment, followed by a tapered dose of prednisolone. She recovered rapidly and became nearly symptom-free upon discharge. Follow-up brain MRI at 1.5 and 9 months indicated complete resolution of previous cerebellar swelling and leptomeningitis. The self-limiting nature of the patient's disease course and negative findings for other possible etiologies suggested the diagnosis of aseptic meningitis with cerebellitis secondary to KFD. Other possible diagnoses, including lymphoma, seemed unlikely after serial follow-up imaging.
Intracranial atypical cartilaginous tumors (ACTs) or low-grade chondrosarcoma are rare among all skull base and intracranial tumors. Late diagnosis leads to higher morbidity and worsened neurological deficits caused by n...Intracranial atypical cartilaginous tumors (ACTs) or low-grade chondrosarcoma are rare among all skull base and intracranial tumors. Late diagnosis leads to higher morbidity and worsened neurological deficits caused by neurovascular compression. Intracranial ACTs have a higher mortality rate than other ACTs due to their location, difficulty of surgical management, local invasiveness, and recurrence rate. This report aims to highlight the challenges of diagnosing and managing intracranial ACTs, which can present with symptoms mimicking other cranial base tumors. It also aims to raise awareness about the possibility of misdiagnosis, which can lead to futile pharmacological treatment. To the best of the authors' knowledge, no published cases of intracranial ACTs from Indonesia have been reported. A 43-year-old female with complaints of chronic left facial numbness and paralysis, diplopia, tinnitus, and posture and exertion-related headache with worsening symptoms for the last 2 months, especially after waking up in the morning, with a disturbance of the left cranial nerves V-2, V-3, VI, VII, and VIII. The patient had been receiving symptomatic treatment repeatedly with several differential diagnoses for one-prior-year due to an underdiagnosis. Magnetic resonance imaging showed a mass with bone destruction located on the left temporal bone involving sphenoclival synchondrosis, clivus, and cavernous sinus with a ring-and-arch-forming calcification with the lytic pattern. After total gross resection, the diagnosis of ACTs was confirmed by a histopathological specimen that shows an abundant lobulated mass composed of uniform hyaline cartilage matrix, increased cellularity, and myxoid changes. Continuous follow-up is necessary because ACTs have a mild recurrence rate despite a high postsurgical survival rate.
Neurofibromatosis type 1 (NF1) is a complex autosomal dominant genetic disorder caused by mutations in the NF1 gene on chromosome 17, which encodes the tumor-suppressor protein, neurofibromin. Neurofibromin plays a criti...Neurofibromatosis type 1 (NF1) is a complex autosomal dominant genetic disorder caused by mutations in the NF1 gene on chromosome 17, which encodes the tumor-suppressor protein, neurofibromin. Neurofibromin plays a critical role in regulating the RAS signaling pathway, and its loss leads to uncontrolled cell proliferation and tumor development. Clinically, NF1 presents with variable manifestations, including café-au-lait spots, neurofibromas, optic gliomas, skeletal abnormalities, and cognitive deficits. The updated diagnostic criteria now incorporate genetic testing and choroidal anomalies, facilitating earlier and more accurate diagnoses. Recent molecular insights have revealed that neurofibromin interacts with multiple cellular pathways, contributing to diverse clinical presentations such as plexiform neurofibromas, which may transform into malignant peripheral nerve sheath tumors, and developmental issues such as scoliosis and learning disabilities. Current therapeutic approaches focus on targeting specific signaling molecules involved in tumorigenesis. This review aims to summarize the recent findings on the clinical features, molecular mechanisms, and potential treatments of NF1, offering a comprehensive understanding of the disorder's complexities and highlighting future research directions.