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Neurology India Mar 2024
Review
Topics: Humans; Spinal Cord Neoplasms; Pseudotumor Cerebri; Magnetic Resonance Imaging; Adult; Female
PubMed: 38691491
DOI: 10.4103/ni.ni_797_22 -
Cephalalgia : An International Journal... May 2024Idiopathic intracranial hypertension is a secondary headache disorder potentially causing visual loss. Neurofilament light chain is a candidate, prognostic biomarker,...
BACKGROUND
Idiopathic intracranial hypertension is a secondary headache disorder potentially causing visual loss. Neurofilament light chain is a candidate, prognostic biomarker, but further studies of neuronal biomarkers are needed. Our objective was to investigate neurofilament light chain in cerebrospinal fluid (cNfL) and plasma (pNfL), amyloid-beta 42 (Aβ-42), total-tau and phosphorylated-tau in cerebrospinal fluid in new-onset idiopathic intracranial hypertension.
METHODS
Prospective case-control study including new-onset idiopathic intracranial hypertension and age, sex and BMI matched controls. Biomarkers were compared between patients and controls and related to papilledema, visual fields and opening pressure.
RESULTS
We included 37 patients and 35 controls. Patients had higher age-adjusted cNfL (1.4 vs. 0.6 pg/mL, p-adjusted < 0.001), pNfL (0.5 vs. 0.3 pg/mL, p-adjusted < 0.001) and total-tau/Aβ-42 (0.12 vs. 0.11, p-adjusted = 0.039). Significant, positive linear correlations were found between cNfL, pNfL, total-tau/Aβ-42 and opening pressure. Patients with severe papilledema had elevated cNfL compared to mild-moderate papilledema (median cNfL: 4.3 pg/mL (3.7) versus 1.0 pg/mL (1.4), p-adjusted = 0.009). cNFL was inversely associated with perimetric mean deviation (r = -0.47, p-adjusted < 0.001).
CONCLUSIONS
cNfL, pNfL and total-tau/Aβ-42 were elevated in new-onset idiopathic intracranial hypertension. cNfL was associated with severity of papilledema and visual field defects at diagnosis. This indicates early axonal damage. Neurofilament light chain is a candidate biomarker for disease severity.
Topics: Humans; Female; Male; Neurofilament Proteins; Adult; Pseudotumor Cerebri; Prospective Studies; Biomarkers; Case-Control Studies; Middle Aged; Amyloid beta-Peptides; Peptide Fragments; tau Proteins
PubMed: 38690635
DOI: 10.1177/03331024241248203 -
Ophthalmology Science 2024To develop and test an artificial intelligence (AI) model to aid in differentiating pediatric pseudopapilledema from true papilledema on fundus photographs.
PURPOSE
To develop and test an artificial intelligence (AI) model to aid in differentiating pediatric pseudopapilledema from true papilledema on fundus photographs.
DESIGN
Multicenter retrospective study.
SUBJECTS
A total of 851 fundus photographs from 235 children (age < 18 years) with pseudopapilledema and true papilledema.
METHODS
Four pediatric neuro-ophthalmologists at 4 different institutions contributed fundus photographs of children with confirmed diagnoses of papilledema or pseudopapilledema. An AI model to classify fundus photographs as papilledema or pseudopapilledema was developed using a DenseNet backbone and a tribranch convolutional neural network. We performed 10-fold cross-validation and separately analyzed an external test set. The AI model's performance was compared with 2 masked human expert pediatric neuro-ophthalmologists, who performed the same classification task.
MAIN OUTCOME MEASURES
Accuracy, sensitivity, and specificity of the AI model compared with human experts.
RESULTS
The area under receiver operating curve of the AI model was 0.77 for the cross-validation set and 0.81 for the external test set. The accuracy of the AI model was 70.0% for the cross-validation set and 73.9% for the external test set. The sensitivity of the AI model was 73.4% for the cross-validation set and 90.4% for the external test set. The AI model's accuracy was significantly higher than human experts on the cross validation set ( < 0.002), and the model's sensitivity was significantly higher on the external test set ( = 0.0002). The specificity of the AI model and human experts was similar (56.4%-67.3%). Moreover, the AI model was significantly more sensitive at detecting mild papilledema than human experts, whereas AI and humans performed similarly on photographs of moderate-to-severe papilledema. On review of the external test set, only 1 child (with nearly resolved pseudotumor cerebri) had both eyes with papilledema incorrectly classified as pseudopapilledema.
CONCLUSIONS
When classifying fundus photographs of pediatric papilledema and pseudopapilledema, our AI model achieved > 90% sensitivity at detecting papilledema, superior to human experts. Due to the high sensitivity and low false negative rate, AI may be useful to triage children with suspected papilledema requiring work-up to evaluate for serious underlying neurologic conditions.
FINANCIAL DISCLOSURES
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
PubMed: 38682028
DOI: 10.1016/j.xops.2024.100496 -
Cephalalgia : An International Journal... Apr 2024Headache burden is substantial in idiopathic intracranial hypertension. The classification of idiopathic intracranial hypertension headache by the International...
Are the ICHD-3 criteria for headache attributed to idiopathic intracranial hypertension valid? Headache phenotyping and field-testing in newly diagnosed idiopathic intracranial hypertension.
BACKGROUND
Headache burden is substantial in idiopathic intracranial hypertension. The classification of idiopathic intracranial hypertension headache by the International Classification of Headache Disorders (ICHD) is an important tool for research and clinical purposes.
METHODS
We phenotyped headaches and tested sensitivity and specificity of the ICHD-3 criteria for idiopathic intracranial hypertension headache in a prospective cohort of patients suspected of idiopathic intracranial hypertension at two tertiary headache centers.
RESULTS
Sensitivity was 93% and specificity was 100% of ICHD-3 criteria for idiopathic intracranial hypertension-related headache validated in idiopathic intracranial hypertension ( = 140) and patients in whom idiopathic intracranial hypertension was suspected but disproven (103). The phenotype of new/worsened headaches related to idiopathic intracranial hypertension suspicion was equally migraine-like (p = 0.76) and tension-type-like (p = 0.08). Lumbar puncture opening pressure was higher ( < 0.0001) and pulsatile tinnitus more frequent ( < 0.0001) in idiopathic intracranial hypertension patients, but neither improved the applicability of the headache criteria, nor did papilledema.
CONCLUSION
Headache phenotype is not distinct in idiopathic intracranial hypertension. ICHD-3 criteria for idiopathic intracranial hypertension headache are sensitive and specific, but simplicity can be improved without compromising accuracy. We propose that a new or worsened headache temporally related to active idiopathic intracranial hypertension is a sufficient criterion for idiopathic intracranial hypertension headache regardless of headache phenotype or accompanying symptoms, and that elements of idiopathic intracranial hypertension diagnostics (papilledema and opening pressure) be segregated from headache criteria. ClinicalTrials.gov Identifier: NCT04032379.
Topics: Adult; Female; Humans; Male; Middle Aged; Headache; International Classification of Diseases; Phenotype; Prospective Studies; Pseudotumor Cerebri; Sensitivity and Specificity
PubMed: 38663903
DOI: 10.1177/03331024241248210 -
Journal of Medical Case Reports Apr 2024Headache is a frequent symptom in coronavirus disease 2019 (COVID-19) patients, and idiopathic intracranial hypertension (pseudotumor cerebri) has been reported among... (Review)
Review
BACKGROUND
Headache is a frequent symptom in coronavirus disease 2019 (COVID-19) patients, and idiopathic intracranial hypertension (pseudotumor cerebri) has been reported among patients who underwent lumbar puncture for persistent headaches.
CASE PRESENTATION
A 45-year-old black man presented with dyspnea, cough, fever and headache for 05 days followed by blurring of vision associated with worsening of the headache. Physical examination was significant for tachypnea and oxygen desaturation and there were no abnormal neurologic findings. He tested positive for SARS-CoV-2 with nasopharyngeal swab PCR. His CSF opening pressure appeared high with normal CSF analysis and brain magnetic resonance imaging (MRI) revealed prominent subarachnoid space around the optic nerves and bilateral papilledema. He had significant improvement with medical therapy alone.
CONCLUSION
Idiopathic intracranial hypertension (IIH) may occur in association with SARS-CoV-2 infection and should be considered when making a differential diagnosis for headache and blurring of vision. COVID-19 may play a role in the development of intracranial hypertension, even in the absence of known risk factors. Early diagnosis and treatment of IIH has paramount importance to prevent vision loss and other morbidities.
Topics: Humans; Male; Middle Aged; COVID-19; Headache; Magnetic Resonance Imaging; Pseudotumor Cerebri; SARS-CoV-2; Black or African American
PubMed: 38658977
DOI: 10.1186/s13256-024-04519-x -
Frontiers in Neurology 2024Mutations of the phosphatase and tensin homolog (PTEN) gene have been associated with a spectrum of disorders called PTEN hamartoma tumor syndrome, which predisposes the...
INTRODUCTION
Mutations of the phosphatase and tensin homolog (PTEN) gene have been associated with a spectrum of disorders called PTEN hamartoma tumor syndrome, which predisposes the individual to develop various types of tumors and vascular anomalies. Its phenotypic spectrum includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), Proteus syndrome, autism spectrum disorders (ASD), some sporadic cancers, Lhermitte-Duclos disease (LDD), and various types of associated vascular anomalies.
CLINICAL PRESENTATION
A previously healthy 27-year-old woman was experiencing visual scintillating scotomas and mild chronic headaches for the past 2 years. The initial computed tomographic (CT) and magnetic resonance imaging (MRI) scans did not reveal any abnormalities, but the possibility of pseudotumor cerebri was considered. Furthermore, a cerebral angiogram showed a posterior fossa dural arteriovenous fistula (dAVF), which was initially treated through embolization. However, in spite of proper treatment, this patient experienced multiple recurrent dAVFs in different locations, requiring multiple embolizations and surgeries. Despite exhibiting altered cerebral perfusion and hemodynamics, the patient did not display any significant symptoms until she experienced a sudden stroke resulting from deep venous thrombosis, which was not associated with any medical procedures or medication use. A comprehensive analysis was performed due to the aggressive nature of the dAVFs. Surprisingly, exome sequencing of a blood sample revealed a PTEN gene variant in chromosome 10, indicative of Cowden syndrome. However, no tumors or other vascular lesions were detected in other systems that would constitute Cowden syndrome.
CONCLUSION
The rapid formation of multiple and complex dAVFs, coupled with not meeting the criteria for any other PTEN-related syndrome, unequivocally leads to the presentation of a novel phenotype of the PTEN germline variant.
PubMed: 38651102
DOI: 10.3389/fneur.2024.1347289 -
Cureus Mar 2024An unidentified source of increased intracranial pressure is a hallmark of idiopathic intracranial hypertension (IIH), also referred to as pseudotumor cerebri. It mainly... (Review)
Review
An unidentified source of increased intracranial pressure is a hallmark of idiopathic intracranial hypertension (IIH), also referred to as pseudotumor cerebri. It mainly affects young, obese women, yet it can happen to anyone, regardless of age, gender, or weight. IIH presents with symptoms such as headaches, visual disturbances, and pulsatile tinnitus and can lead to severe complications, including vision loss, if left untreated. Diagnosis involves clinical evaluation, neuroimaging, and lumbar puncture, while management options include medical interventions and surgical procedures. This review provides a comprehensive overview of IIH, including its etiology, clinical presentation, epidemiology, complications, management approaches, and challenges. Increased awareness among healthcare professionals, standardized diagnostic criteria, and further research efforts are essential for improving outcomes and quality of life for individuals with IIH.
PubMed: 38623134
DOI: 10.7759/cureus.56256 -
Scientific Reports Apr 2024Idiopathic intracranial hypertension (IIH) may result in optic nerve fiber loss and even atrophy. The timing of the optical coherence tomography (OCT) indices reaching...
Idiopathic intracranial hypertension (IIH) may result in optic nerve fiber loss and even atrophy. The timing of the optical coherence tomography (OCT) indices reaching the lowest point (nadir) and the factors that predict the patient's anatomical outcome are not known. We aimed to determine the timing and the factors that affect nadir retinal nerve fiber layer (RNFL) thickness. The medical records of 99 IIH patients who were treated from December 2009 to January 2020 were retrospectively reviewed. The mean RNFL thickness at presentation was 263.5 ± 106.4 µm. The mean time to nadir was 7.9 ± 6.3 months. The average RNFL and ganglion cell complex (GCC) thickness at the nadir were 92.6 ± 14.5 µm (47% showed thinning) and 77.9 ± 27.8 µm (70% showed thinning), respectively. The Frisén disc edema stage and average RNFL thickness at baseline correlated with a longer time to nadir, (r = 0.28 P = 0.003 and r = 0.24, P = 0.012, respectively). The nadir average RNFL thickness and the nadir average GCC thickness (r = 0.32, P = 0.001, r = 0.29, P = 0.002, respectively) correlated with the baseline visual field mean deviation. The final anatomical outcome of IIH episodes in this study resulted in RNFL and GCC thinning. The time to RNFL nadir and its values correlated with IIH severity at presentation.
Topics: Humans; Tomography, Optical Coherence; Pseudotumor Cerebri; Retrospective Studies; Retina; Atrophy
PubMed: 38616196
DOI: 10.1038/s41598-024-58865-3 -
Lupus Jun 2024Idiopathic intracranial hypertension (IIH) is a diagnosis of exclusion characterized by features of raised intracranial pressure (ICP) in the absence of brain...
Idiopathic intracranial hypertension (IIH) is a diagnosis of exclusion characterized by features of raised intracranial pressure (ICP) in the absence of brain parenchymal lesion, vascular malformations, hydrocephalus, or central nervous system (CNS) infection. Commonly used other terms for this entity include benign intracranial hypertension (BIH) or pseudotumor cerebri. Few case reports of systemic lupus erythematosus (SLE) presenting as IIH are available in the literature. We report a 12-year-old girl presented with chronic holocranial headache and occasional episodes of projectile vomiting for the last 6 months and then developed blurring of vision for the last month. She fulfilled the criteria for IIH. Subsequent evaluation revealed a diagnosis of SLE. The occurrence of IIH in SLE is not coincidental and is reported in 1%-5.4% of patients with SLE. Though corticosteroids have not been widely used in IIH, underlying SLE warranted administering corticosteroids with subsequent complete resolution of IIH. Pediatricians, neurologists, intensivists, and ophthalmologists should consider SLE as a differential diagnosis in children presenting with IIH.
Topics: Humans; Female; Lupus Erythematosus, Systemic; Child; Pseudotumor Cerebri; Diagnosis, Differential; Headache; Intracranial Hypertension
PubMed: 38607271
DOI: 10.1177/09612033241247358 -
World Neurosurgery Apr 2024This review explores the future role of venous sinus stenting (VSS) in the management of idiopathic intracranial hypertension and pulsatile tinnitus. Despite its... (Review)
Review
This review explores the future role of venous sinus stenting (VSS) in the management of idiopathic intracranial hypertension and pulsatile tinnitus. Despite its favorable safety profile and clinical outcomes compared with traditional treatments, VSS is not yet the standard of care for these conditions, lacking high-level evidence data and guidelines for patient selection and indications. Current and recently completed clinical trials are expected to provide data to support the adoption of VSS as a primary treatment option. Additionally, VSS shows potential in treating other conditions, such as dural arteriovenous fistula and cerebral venous sinus thrombosis, and it is likely that the procedure will continue to see an expansion of its approved indications. The current lack of dedicated venous stenting technology is being addressed with promising advancements, which may improve procedural ease and patient outcomes. VSS also offers potential for expansion into modulation of brain electrophysiology via endovascular routes, offering exciting possibilities for neurodiagnostics and treatment of neurodegenerative disorders.
Topics: Humans; Treatment Outcome; Pseudotumor Cerebri; Stents; Cranial Sinuses; Endovascular Procedures; Intracranial Hypertension; Retrospective Studies
PubMed: 38590072
DOI: 10.1016/j.wneu.2023.12.128