scholarly journals Epilepsy in Onchocerca volvulus Sero-Positive Patients From Northern Uganda—Clinical, EEG and Brain Imaging Features

2021 ◽  
Vol 12 ◽  
Author(s):  
Rodney Ogwang ◽  
Albert Ningwa ◽  
Pamela Akun ◽  
Paul Bangirana ◽  
Ronald Anguzu ◽  
...  
Keyword(s):  
Brain Imaging ◽  
Brain Mri ◽  
Cerebellar Atrophy ◽  
Sub Saharan Africa ◽  
Onchocerca Volvulus ◽  
Northern Uganda ◽  
Imaging Features ◽  
Seizure Onset ◽  
Nodding Syndrome ◽  
The Mean

Globally, epilepsy is the most common chronic neurological disorder. The incidence in sub-Saharan Africa is 2-3 times higher than that in high income countries. Infection by Onchocerca volvulus may be an underlying risk factor for the high burden and based upon epidemiological associations, has been proposed to cause a group of disorders—Onchocerca associated epilepsies (OAE) like nodding syndrome (NS). To improve our understanding of the disease spectrum, we described the clinical, electroencephalographic (EEG) and magnetic resonance imaging (MRI) features of children with epilepsy and sero-positive for Onchocerca volvulus (possible OAEs other than nodding syndrome). Twenty-nine children and adolescents with non-nodding syndrome OAE in northern Uganda were enrolled. A diagnosis of OAE was made in patients with epilepsy and seizure onset after age 3 years, no reported exposure to perinatal severe febrile illness or traumatic brain injury, no syndromic epilepsy diagnosis and a positive Ov-16 ELISA test. Detailed clinical evaluation including psychiatric, diagnostic EEG, a diagnostic brain MRI (in 10 patients) and laboratory testing were performed. Twenty participants (69%) were male. The mean age was 15.9 (standard deviation [SD] 1.9) years while the mean age at seizure onset was 9.8 (SD 2.9) years. All reported normal early childhood development. The most common clinical presentation was a tonic-clonic seizure. The median number of seizures was 2 (IQR 1–4) in the previous month. No specific musculoskeletal changes, or cranial nerve palsies were reported, neither were any vision, hearing and speech difficulties observed. The interictal EEG was abnormal in the majority with slow wave background activity in 52% (15/29) while 41% (12/29) had focal epileptiform activity. The brain MRI showed mild to moderate cerebellar atrophy and varying degrees of atrophy of the frontal, parietal and occipital lobes. The clinical spectrum of epilepsies associated with Onchocerca may be broader than previously described. In addition, focal onset tonic-clonic seizures, cortical and cerebellar atrophy may be important brain imaging and clinical features.

Abstract P121: Twenty-two-year Cognitive Decline Was Significantly Associated With Vascular And Neurodegenerative Brain Changes In The Aric Neurocognitive Study

Circulation ◽  
2021 ◽  
Vol 143 (Suppl_1) ◽  
Author(s):  
Alessandro Orlando ◽  
A Richey Sharrett ◽  
Rebecca F Gottesman ◽  
David Knopman ◽  
Andrea L Schneider ◽  
...  
Keyword(s):  
White Matter ◽  
Brain Imaging ◽  
Temporal Lobe ◽  
Brain Volume ◽  
Brain Mri ◽  
Amyloid Deposition ◽  
White Matter Hyperintensity ◽  
Β Amyloid ◽  
The Mean

Introduction: Studies have found that smaller brain volumes, cerebral infarcts, and white matter abnormalities are associated with dementia and mild cognitive impairment. However, these studies have been limited by short follow-up precluding a strong establishment of temporality. Therefore, it is unknown whether brain imaging findings are preceded by long-term changes in cognition. We sought to address this gap by examining brain imaging and two decades of cognitive changes in and a large, representative population-based cohort of older adults of black and white race. Hypothesis: We hypothesized that 22-year declines in global cognitive factor scores (GCFS) would be associated with a pattern of smaller total brain and temporal lobe meta region of interest (likely to be affected by Alzheimer’s disease) volumes, larger white matter hyperintensity volumes, and greater odds of ≥1 lacunar infarct and elevated brain β-amyloid deposition. Methods: ARIC participants with brain imaging data, complete cognitive factor score, and not missing key covariates were included. GCFS were collected at three visits across 22 years (1990-2013), and brain MRI and florbetapir PET imaging were collected in 2011-13; PET in subset of n=327. Mixed effects models with random intercepts and slopes predicted individual change in GCFS. Outcomes of interest were total brain volume (cc), temporal lobe meta region volume, log 2 (white matter hyperintensity volume), ≥1 lacunar infarct, and elevated brain β-amyloid deposition (SUVR >1.2). Multivariable linear and logistic regression was used to relate outcomes to GCFS slopes after adjusting for confounders, including vascular risk factors. As appropriate, models were also adjusted for total intracranial volume. Results: Among 1957 with complete brain MRI imaging, 1830 were included in the study, 60% (n=1096) women and 26% (n=480) black. At the first visit, the mean (SD) baseline age was 55 (5.2) yrs. The mean (SD) observed GCFS at the three visits were 0.16 (0.79), 0.05 (0.75), and -0.78 (0.86). After adjustment, a 1-SD larger decline in GCFS was significantly associated with a smaller brain volume by 1.6% [95%CI: 1.3, 1.8] relative to mean brain volume, a smaller temporal lobe meta region volume by 2.4% [2.1, 2.8] relative to the mean volume, a 15% [11, 19] larger volume of white matter hyperintensities, 1.3-fold [1.2, 1.4] higher odds of having ≥1 lacune, and 1.8-fold [1.4, 2.4] higher odds of elevated brain β-amyloid deposition. Associations remained significant after further adjustment for first or last GCFS. Conclusions: Greater declines in long-term cognitive functioning were significantly associated with smaller brain volumes and dementia-related brain characteristics and were independent of last visit GCFS. This suggests long-term changes in cognition may precede late-life brain morphology and outperform cross-sectional cognitive measures.

scholarly journals Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations

2017 ◽  
Vol 3 (6) ◽  
pp. e206 ◽  
Author(s):  
Carla Marini ◽  
Michele Romoli ◽  
Elena Parrini ◽  
Cinzia Costa ◽  
Davide Mei ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
De Novo ◽  
Focal Epilepsy ◽  
Brain Mri ◽  
Somatic Mosaicism ◽  
Epileptic Encephalopathy ◽  
Seizure Onset ◽  
Severe Intellectual Disability ◽  
The Mean

Objective:To describe electroclinical features and outcome of 6 patients harboring KCNB1 mutations.Methods:Clinical, EEG, neuropsychological, and brain MRI data analysis. Targeted next-generation sequencing of a 95 epilepsy gene panel.Results:The mean age at seizure onset was 11 months. The mean follow-up of 11.3 years documented that 4 patients following an infantile phase of frequent seizures became seizure free; the mean age at seizure offset was 4.25 years. Epilepsy phenotypes comprised West syndrome in 2 patients, infantile-onset unspecified generalized epilepsy, myoclonic and photosensitive eyelid myoclonia epilepsy resembling Jeavons syndrome, Lennox-Gastaut syndrome, and focal epilepsy with prolonged occipital or clonic seizures in each and every one. Five patients had developmental delay prior to seizure onset evolving into severe intellectual disability with absent speech and autistic traits in one and stereotypic hand movements with impulse control disorder in another. The patient with Jeavons syndrome evolved into moderate intellectual disability. Mutations were de novo, 4 missense and 2 nonsense, 5 were novel, and 1 resulted from somatic mosaicism.Conclusions:KCNB1-related manifestations include a spectrum of infantile-onset generalized or focal seizures whose combination leads to early infantile epileptic encephalopathy including West, Lennox-Gastaut, and Jeavons syndromes. Long-term follow-up highlights that following a stormy phase, seizures subside or cease and treatment may be eased or withdrawn. Cognitive and motor functions are almost always delayed prior to seizure onset and evolve into severe, persistent impairment. Thus, KCNB1 mutations are associated with diffuse brain dysfunction combining seizures, motor, and cognitive impairment.

scholarly journals Nodding syndrome: a concise review

2020 ◽  
Vol 2 (1) ◽  
Author(s):  
Sam Olum ◽  
Peter Scolding ◽  
Charlotte Hardy ◽  
James Obol ◽  
Neil J Scolding
Keyword(s):  
Clinical Features ◽  
Sub Saharan Africa ◽  
Northern Uganda ◽  
Childhood Onset ◽  
Nodding Syndrome ◽  
Concise Review ◽  
Epileptic Disorder ◽  
Research Questions ◽  
Sub Saharan ◽  
The 1960S

Abstract Nodding syndrome is an uncommon epileptic disorder of childhood onset, which appears to occur exclusively in clusters in sub-Saharan Africa. It was first reported in the 1960s, in what is now southern Tanzania, then in Liberia, and later in South Sudan and northern Uganda, with both epidemic and endemic patterns described. The cause remains unknown. Here we describe the background and development of descriptions of the disorder, review its clinical features and summarize current theories and studies concerning its cause, outlining the principal remaining research questions relating to this highly unusual disease.

Long-term seizure outcomes after pediatric temporal lobectomy: does brain MRI lesion matter?

2019 ◽  
Vol 24 (2) ◽  
pp. 200-208
Author(s):  
Ravindra Arya ◽  
Francesco T. Mangano ◽  
Paul S. Horn ◽  
Sabrina K. Kaul ◽  
Serena K. Kaul ◽  
...  
Keyword(s):  
Repeated Measures ◽  
Mixed Model ◽  
Linear Mixed Model ◽  
Hippocampal Sclerosis ◽  
Brain Mri ◽  
Temporal Lobectomy ◽  
Seizure Freedom ◽  
Seizure Onset

OBJECTIVEThere is emerging data that adults with temporal lobe epilepsy (TLE) without a discrete lesion on brain MRI have surgical outcomes comparable to those with hippocampal sclerosis (HS). However, pediatric TLE is different from its adult counterpart. In this study, the authors investigated if the presence of a potentially epileptogenic lesion on presurgical brain MRI influences the long-term seizure outcomes after pediatric temporal lobectomy.METHODSChildren who underwent temporal lobectomy between 2007 and 2015 and had at least 1 year of seizure outcomes data were identified. These were classified into lesional and MRI-negative groups based on whether an epilepsy-protocol brain MRI showed a lesion sufficiently specific to guide surgical decisions. These patients were also categorized into pure TLE and temporal plus epilepsies based on the neurophysiological localization of the seizure-onset zone. Seizure outcomes at each follow-up visit were incorporated into a repeated-measures generalized linear mixed model (GLMM) with MRI status as a grouping variable. Clinical variables were incorporated into GLMM as covariates.RESULTSOne hundred nine patients (44 females) were included, aged 5 to 21 years, and were classified as lesional (73%), MRI negative (27%), pure TLE (56%), and temporal plus (44%). After a mean follow-up of 3.2 years (range 1.2–8.8 years), 66% of the patients were seizure free for ≥ 1 year at last follow-up. GLMM analysis revealed that lesional patients were more likely to be seizure free over the long term compared to MRI-negative patients for the overall cohort (OR 2.58, p < 0.0001) and for temporal plus epilepsies (OR 1.85, p = 0.0052). The effect of MRI lesion was not significant for pure TLE (OR 2.64, p = 0.0635). Concordance of ictal electroencephalography (OR 3.46, p < 0.0001), magnetoencephalography (OR 4.26, p < 0.0001), and later age of seizure onset (OR 1.05, p = 0.0091) were associated with a higher likelihood of seizure freedom. The most common histological findings included cortical dysplasia types 1B and 2A, HS (40% with dual pathology), and tuberous sclerosis.CONCLUSIONSA lesion on presurgical brain MRI is an important determinant of long-term seizure freedom after pediatric temporal lobectomy. Pediatric TLE is heterogeneous regarding etiologies and organization of seizure-onset zones with many patients qualifying for temporal plus nosology. The presence of an MRI lesion determined seizure outcomes in patients with temporal plus epilepsies. However, pure TLE had comparable surgical seizure outcomes for lesional and MRI-negative groups.

scholarly journals Neurological Evaluation of Patients with Newly Diagnosed Coeliac Disease Presenting to Gastroenterologists: A 7-Year Follow-Up Study

Nutrients ◽  
2021 ◽  
Vol 13 (6) ◽  
pp. 1846
Author(s):  
Marios Hadjivassiliou ◽  
Iain D. Croall ◽  
Richard A. Grünewald ◽  
Nick Trott ◽  
David S. Sanders ◽  
...  
Keyword(s):  
Coeliac Disease ◽  
Brain Imaging ◽  
Cerebellar Atrophy ◽  
Neurological Dysfunction ◽  
Close Monitoring ◽  
Newly Diagnosed ◽  
Positive Serology ◽  
Original Cohort ◽  
Follow Up Study

We have previously shown that 67% of patients with newly diagnosed coeliac disease (CD) presenting to gastroenterologists have evidence of neurological dysfunction. This manifested with headache and loss of co-ordination. Furthermore 60% of these patients had abnormal brain imaging. In this follow-up study, we re-examined and re-scanned 30 patients from the original cohort of 100, seven years later. There was significant reduction in the prevalence of headaches (47% to 20%) but an increase in the prevalence of incoordination (27% to 47%). Although those patients with coordination problems at baseline reported improvement on the gluten free diet (GFD), there were 7 patients reporting incoordination not present at baseline. All 7 patients had positive serology for one or more gluten-sensitivity related antibodies at follow-up. In total, 50% of the whole follow-up cohort were positive for one or more gluten-related antibodies. A comparison between the baseline and follow-up brain imaging showed a greater rate of cerebellar grey matter atrophy in the antibody positive group compared to the antibody negative group. Patients with CD who do not adhere to a strict GFD and are serological positive are at risk of developing ataxia, and have a significantly higher rate of cerebellar atrophy when compared to patients with negative serology. This highlights the importance of regular review and close monitoring.

Delayed post-hypoxic leukoencephalopathy: Case report

2017 ◽  
Vol 41 (S1) ◽  
pp. s839-s839 ◽  
Author(s):  
M. Solerdelcoll Arimany ◽  
M. Garriga ◽  
E. Parellada
Keyword(s):  
Neuropsychiatric Symptoms ◽  
Brain Mri ◽  
Clinical History ◽  
Good Prognosis ◽  
Mri Findings ◽  
The Mean ◽  
Competing Interest ◽  
Weighted Sequences ◽  
Direct Toxicity ◽  
Progressive Cognitive Impairment

IntroductionDelayed post-hypoxic leukoencephalopathy (DPHL) is an underrecognized syndrome of delayed demyelination, where patients manifest neuropsychiatric symptoms after a period of 2–40 days of apparent recovery from a cerebral hypo-oxygenation episode.ObjectivesWe report a case of a patient who successfully recovered from an overdose of heroin, but then suffered a delayed abrupt neurological deterioration.AimsTo improve assessment and recognition of DPHL.MethodsAn adequate retrospective collection of clinical data and nonsystematic review of the literature was performed.ResultsA 43-year-old male with schizoaffective disorder who attempted suicide with an overdose of heroin, was successfully revived and return to his previously mental status, but 3 weeks after, he abruptly developed progressive cognitive impairment with akinetic mutism and ataxia. He was admitted to our acute psychiatric unit after brain CT and chemistry analyses were unremarkable. Brain MRI showed diffusely symmetric hyperintensity in the white matter (WM), pronominally the periventricular WM, on FLAIR and T2 weighted sequences. At 16 weeks postoverdose, he presented improvement both cognitive and motor symptoms, lasting deficits in frontal-executive functions.DiscussionDPHL is characterized by similar clinical and neuroimaging features regardless of the initial insult. The mean lucid interval coincides with the replacement half-life for myelin related lipids and proteins. Prolonged mild-to-moderate hypo-oxygenation of WM is thought to disrupt myelin turnover. It appears probable that these were responsible for DPHL in our patient rather than a direct toxicity.ConclusionDPHL can be diagnosed when clinical history, laboratory assessments and MRI findings are concordant. DPHL requires extensive support care and carries a relatively good prognosis.Disclosure of interestThe authors have not supplied their declaration of competing interest.

scholarly journals A Clinical-Based Diagnostic Approach to Cerebellar Atrophy in Children

2021 ◽  
Vol 11 (5) ◽  
pp. 2333
Author(s):  
Claudia Ciaccio ◽  
Chiara Pantaleoni ◽  
Franco Taroni ◽  
Daniela Di Bella ◽  
Stefania Magri ◽  
...  
Keyword(s):  
Muscle Biopsy ◽  
Single Gene ◽  
Brain Mri ◽  
Genetic Defect ◽  
Cerebellar Atrophy ◽  
Chain Complex ◽  
Clinical Findings ◽  
Diagnostic Workup ◽  
Diagnostic Approach ◽  
Disease Definition

Background: Cerebellar atrophy is a neuroradiological definition that categorizes conditions heterogeneous for clinical findings, disease course, and genetic defect. Most of the papers proposing a diagnostic workup for pediatric ataxias are based on neuroradiology or on the literature and experimental knowledge, with a poor participation of clinics in the process of disease definition. Our study aims to offer a different perspective on the way we approach cerebellar atrophy in developmental age, building a clinical-based diagnostic workup to guide molecular diagnosis. Methods: we recruited 52 patients with pediatric-onset cerebellar atrophy and definite disease categorization. Children underwent brain MRI, neurophysiological exams, metabolic investigations, and muscle biopsy with respiratory chain complex study. Single-gene sequencing, next-generation sequencing NGS panels, whole-exome sequencing (WES), and disease-specific techniques have been used to reach genetic confirmation. Results: Brain MRI is the main method of diagnosis, followed by tests on muscle biopsy and peripheral nervous system study. Other exams (e.g., metabolic investigations or evoked potentials) may be useful to narrow the list of diagnostic possibilities. Conclusions: We propose a diagnostic approach to cerebellar atrophy in children based on clinical findings, and support the evidence that a precise phenotypic definition may lead to the formulation of a definite diagnosis or otherwise guide the back phenotyping process derived from large molecular data.

Frequency, Predictors, and Outcome of Seizures in Patients With Myelomeningocele: Single-Center Retrospective Cohort Study

2021 ◽  
pp. 088307382110531
Author(s):  
Cemal Karakas ◽  
Emin Fidan ◽  
Kapil Arya ◽  
Troy Webber ◽  
Joan B. Cracco
Keyword(s):  
Good Prognosis ◽  
Cortical Atrophy ◽  
Seizure Freedom ◽  
Single Center ◽  
Seizure Onset ◽  
Shunt Procedure ◽  
History Of ◽  
The Mean

To determine the frequency, predictors, and outcomes of seizures in patients with myelomeningocele, we retrospectively analyzed the data from patients with myelomeningocele followed longitudinally at a single center from 1975 to 2013. We identified a total of 122 patients (61% female). The mean follow-up duration was 11.1 years (minimum-maximum = 0-34.5 years, SD = 8.8, median = 9.1 years). A total of 108 (88.5%) patients had hydrocephalus, and 98 (90.7%) of those patients required a ventriculoperitoneal shunt procedure. Twenty-four (19.7%) patients manifested with seizures, 23 of whom had hydrocephalus. The average age of seizure onset was 4.8 years (median 2 years of age). Falx dysgenesis ( P = .004), lumbar myelomeningocele ( P = .007), and cortical atrophy ( P = .028) were significantly associated with epileptic seizure development. The average seizure-free period at the last follow-up in patients with a history of myelomeningocele and seizures was 8.1 years. We conclude that myelomeningocele patients with seizures have an overall good prognosis with considerable long-term seizure freedom.

scholarly journals Potential of Spirulina Platensis as a Nutritional Supplement in Malnourished HIV-Infected Adults in Sub-Saharan Africa: A Randomised, Single-Blind Study

2011 ◽  
Vol 4 ◽  
pp. NMI.S5862 ◽  
Author(s):  
M. Azabji-Kenfack ◽  
S. Edie Dikosso ◽  
E.G. Loni ◽  
E.A. Onana ◽  
E. Sobngwi ◽  
...  
Keyword(s):  
Body Composition ◽  
Viral Load ◽  
Serum Albumin ◽  
Spirulina Platensis ◽  
Sub Saharan Africa ◽  
Nutritional Rehabilitation ◽  
Group A ◽  
The Mean ◽  
Sub Saharan ◽  
Group B

Background Malnutrition is a major global public health issue and its impact on communities and individuals is more dramatic in Sub-Saharan Africa, where it is compounded by widespread poverty and generalized high prevalence of human immunodeficiency virus (HIV). Therefore, malnutrition should be addressed through a multisectorial approach, and malnourished individuals should have access to nutritional rehabilitation molecules that are affordable, accessible, rich in nutrient and efficient. We thus assessed the efficacy of two affordable and accessible nutritional supplements, spirulina platensis versus soya beans among malnourished HIV-infected adults. Methods Undernourished patients, naïve of, but eligible to antiretroviral treatment (ART), aged 18 to 35 years were enrolled and randomly assigned to two groups. The first group received spirulina (Group A) as food supplement and the second received soya beans (Group B). Patients were initiated ART simultaneously with supplements. Food supplements were auto-administered daily, the quantity being calculated according to weight to provide 1.5 g/kg body weight of proteins with 25% from supplements (spirulina and soya beans). Patients were monitored at baseline and followed-up during twelve weeks for anthropometric parameters, body composition, haemoglobin and serum albumin, CD4 count and viral load. Results Fifty-two patients were enrolled (Group A: 26 and Group B: 26). The mean age was 26.4 ± 4.9 years (Group A) and 28.7 ± 4.8 (Group B) with no significant difference between groups ( P = 0.10). After 12 weeks, weight and BMI significantly improved in both groups ( P < 0.001 within each group). The mean gain in weight and BMI in Group A and B were 4.8 vs. 6.5 kg, ( P = 0.68) and 1.3 vs. 1.90 Kg/m2, ( P = 0.82) respectively. In terms of body composition, fat free mass (FFM) did not significantly increase within each group (40.5 vs. 42.2 Kg, P = 0.56 for Group A; 39.2 vs. 39.0 Kg, P = 0.22 for Group B). But when compared between the two groups at the end of the trial, FFM was significantly higher in the spirulina group (42.2 vs. 39.0 Kg, P = 0.01). The haemoglobin level rose significantly within groups ( P < 0.001 for each group) with no difference between groups ( P = 0.77). Serum albumin level did not increase significantly within groups ( P < 0.90 vs. P < 0.82) with no difference between groups ( P = 0.39). The increase in CD4 cell count within groups was significant ( P < 0.01 in both groups), with a significantly higher CD4 count in the spirulina group compared to subjects on soya beans at the end of the study ( P = 0.02). Within each group, HIV viral load significantly reduced at the end of the study ( P < 0.001 and P = 0.04 for spirulina and soya beans groups respectively). Between the groups, the viral load was similar at baseline but significantly reduced in the spirulina group at the end of the study ( P = 0.02). Conclusion We therefore conclude in this preliminary study, firstly, that both spirulina and soja improve on nutritional status of malnourished HIV-infected patients but in terms of quality of nutritional improvement, subjects on spirulina were better off than subjects on soya beans. Secondly, nutritional rehabilitation improves on immune status with a consequent drop in viral load but further investigations on the antiviral effects of this alga and its clinical implications are strongly needed.

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