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https://www.readbyqxmd.com/read/28726030/intravascular-large-b-cell-lymphoma-presenting-clinically-as-rapidly-progressive-dementia
#1
REVIEW
F M Brett, D Chen, T Loftus, Y Langan, S Looby, S Hutchinson
BACKGROUND: In patients presenting with rapidly progressive dementia, prion disease may enter the differential diagnosis. The commonest malignancies masquerading as prion disease are primary CNS lymphoma and intravascular large B-cell lymphoma, both rare and difficult to diagnose without brain biopsy. CASE PRESENTATION: This 82-year-old lady with a past history of hypertension, presented with rapidly progressive cognitive impairment and ataxia. The possibility of sCJD was raised...
July 19, 2017: Irish Journal of Medical Science
https://www.readbyqxmd.com/read/28710878/6-mercaptopurine-modifies-cerebrospinal-fluid-t-cell-abnormalities-in-pediatric-opsoclonus-myoclonus-as-steroid-sparer
#2
Michael R Pranzatelli, Elizabeth D Tate, Tyler J Allison
The purpose was to evaluate the capacity of 6-mercaptopurine (6-MP), a known immunosuppressant, to normalize cerebrospinal fluid (CSF) lymphocyte frequencies in opsoclonus-myoclonus syndrome (OMS) and function as a steroid sparer. CSF and blood lymphocytes were immunophenotyped in 11 children with OMS (without CSF B cell expansion), using a comprehensive panel of cell surface adhesion, activation, and maturation markers by flow cytometry, and referenced to 18 pediatric controls. Drug metabolites, lymphocyte counts, and liver function tests were used clinically to monitoring therapeutic range and toxicity...
July 15, 2017: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/28707723/novel-sgce-mutation-p-glu65-in-a-japanese-family-with-myoclonus-dystonia
#3
Noriko Koide, Sumito Dateki, Kiyoko Watanabe, Hiroyuki Moriuchi
No abstract text is available yet for this article.
July 14, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28707717/an-autopsied-case-of-corticobasal-degeneration-presenting-with-frontotemporal-dementia-followed-by-myoclonus
#4
Yasushi Iwasaki, Keiko Mori, Masumi Ito, Maya Mimuro, Mari Yoshida
A Japanese woman developed frontotemporal dementia (FTD)-like symptoms of abnormal behavior, such as stereotyped behavior and disinhibition. The patient developed these symptoms at the age of 59 years, although aphasia symptoms were not apparent at early disease stages. Progressive parkinsonism was dominant on the left side, and conspicuous myoclonus was recognized in the late disease stage. MRI indicated severe, right side-dominant frontotemporal lobe atrophy with white matter degeneration. Brainstem and cerebellar atrophy were also observed...
July 14, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28696937/clinical-reasoning-a-54-year-old-woman-with-dementia-myoclonus-and-ataxia
#5
Farwa Ali, Joseph A Murray, Andrea C Adams, Eoin P Flanagan
No abstract text is available yet for this article.
July 11, 2017: Neurology
https://www.readbyqxmd.com/read/28694648/photosensitive-posthypoxic-reflex-myoclonus-in-a-postcardiac-arrest-individual-an-interesting-finding
#6
Rohan R Mahale, Anish Mehta, R Srinivasa
No abstract text is available yet for this article.
July 2017: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28690014/psychiatric-symptoms-in-myoclonus-dystonia-syndrome-are-just-concomitant-features-regardless-of-the-sgce-gene-mutation
#7
Ji-Young Kim, Woong-Woo Lee, Chae Won Shin, Han-Joon Kim, Sung-Sup Park, Sun Ju Chung, Jin Whan Cho, Ho-Sung Ryu, Tae Ok Son, Beomseok Jeon
INTRODUCTION: Among myoclonus-dystonia syndrome (MD) patients, psychiatric disorders including depression, anxiety, alcohol dependence, obsessive-compulsive disorder (OCD) and panic disorder have been frequently reported to be related with the epsilon-sarcoglycan gene (SGCE) mutation. However, the rate of psychiatric disorders has not been compared between MD patients with the SGCE mutation (SGCE (+)) and without the SGCE mutation (SGCE (-)). We analyzed the psychiatric data in both SGCE (+) and SGCE (-) MD patients to determine the association of the SGCE mutation with psychiatric disorders in MD...
June 23, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28688853/gpr37l1-modulates-seizure-susceptibility-evidence-from-mouse-studies-and-analyses-of-a-human-gpr37l1-variant
#8
Michelle M Giddens, Jennifer C Wong, Jason P Schroeder, Emily G Farrow, Brilee M Smith, Sharon Owino, Sarah E Soden, Rebecca C Meyer, Carol Saunders, J B LePichon, David Weinshenker, Andrew Escayg, Randy A Hall
Progressive myoclonus epilepsies (PMEs) are disorders characterized by myoclonic and generalized seizures with progressive neurological deterioration. While several genetic causes for PMEs have been identified, the underlying causes remain unknown for a substantial portion of cases. Here we describe several affected individuals from a large, consanguineous family presenting with a novel PME in which symptoms begin in adolescence and result in death by early adulthood. Whole exome analyses revealed that affected individuals have a homozygous variant in GPR37L1 (c...
July 6, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28688606/a-clinical-and-neurophysiological-motor-signature-of-unverricht-lundborg-disease
#9
E Hainque, A Blancher, V Mesnage, S Rivaud-Pechoux, A Bertrand, S Dupont, V Navarro, E Roze, I Gourfinkel-An, E Apartis
OBJECTIVES: Unverricht-Lundborg disease (ULD) is the most common form of progressive myoclonus epilepsy. Cerebellar dysfunction may appear over time, contributing along with myoclonus to motor disability. The purpose of the present work was to clarify the motor and neurophysiological characteristics of ULD patients. METHODS: Nine patients with genetically proven ULD were evaluated clinically (medical history collected from patient charts, the Scale for the Assessment and Rating of Ataxia and Unified Myoclonus Rating Scale)...
July 5, 2017: Revue Neurologique
https://www.readbyqxmd.com/read/28687180/a-patient-with-early-myoclonic-encephalopathy-eme-with-a-de-novo-kcnq2-mutation
#10
Karin Kojima, Kentaro Shirai, Mizuki Kobayashi, Akihiko Miyauchi, Hirotomo Saitsu, Naomichi Matsumoto, Hitoshi Osaka, Takanori Yamagata
BACKGROUND: The potassium voltage-gated channel subfamily Q member 2 (KCNQ2) gene has been reported to be associated with various types of epilepsy, including benign familial neonatal seizure (BFNS), early infantile epileptic encephalopathy (EIEE), and unclassified early onset encephalopathies. We herein report a patient with early myoclonic encephalopathy (EME) caused by a KCNQ2 mutation. CASE REPORT: A male infant started to exhibit erratic myoclonus several days after birth and apnea attacks lasting for seconds with desaturation...
July 4, 2017: Brain & Development
https://www.readbyqxmd.com/read/28686997/management-of-epilepsy-in-merrf-syndrome
#11
REVIEW
Josef Finsterer, Sinda Zarrouk-Mahjoub
Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome is a rare syndromic mitochondrial disorder (MID) with a broad phenotypic but narrow genotypic heterogeneity. One of the predominant phenotypic features in addition to myopathy is epilepsy. The most frequent seizure type in MERRF is generalised myoclonic seizure but also focal myoclonic, focal atonic, generalised tonic-clonic, generalised atonic, generalised myoclonic-atonic, typical absences, or tonic-clonic seizures of unknown onset have been reported...
June 24, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28680785/a-case-report-of-probable-sporadic-creutzfeldt-jakob-disease-how-to-approach-early-diagnosis
#12
Bowei Tan, Carlos Morales Mangual, Iftekhar Mahmud, Nosakhare D Tongo, Larisa Mararenko, Arthur Kay
Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare and fatal spongiform encephalopathy characterized by rapidly progressive dementia and myoclonus. The rarity of this disease and varied initial symptoms make the early diagnosis fairly challenging. Here, we present a case initially admitted for confusion and bizarre behaviors. She had acute deterioration of mental status, akinetic mutism, and myoclonus jerks four weeks later. Cerebrospinal fluid (CSF) analysis was positive for protein 14-3-3. Brain magnetic resonance imaging (MRI) showed hyperintensities in the bilateral cortex, basal ganglia, and thalami in diffusion-weighted imaging (DWI)...
May 30, 2017: Curēus
https://www.readbyqxmd.com/read/28674368/thymoma-associated-progressive-encephalomyelitis-with-rigidity-and-myoclonus-perm-with-myasthenia-gravis
#13
Satoshi Morise, Masataka Nakamura, Jun-Ichi Morita, Kousuke Miyake, Takenobu Kunieda, Satoshi Kaneko, Hirofumi Kusaka
We report a case of a 72-year-old woman who initially presented with symptoms of bulbar myasthenia and was positive for anti-acetylcholine receptor antibodies. She subsequently developed painful muscle spasms, myoclonus, and stiffness. Thymoma was detected, and both anti-glycine receptor and anti-glutamic acid decarboxylase antibodies were found. She was diagnosed with thymoma-associated progressive encephalomyelitis with rigidity and myoclonus (PERM). She experienced marked improvement after thymectomy followed by plasma exchange and intravenous immunoglobulin and prednisolone...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28670128/clinical-features-of-limbic-encephalitis-with-lgi1-antibody
#14
Meiling Wang, Xiaoyu Cao, Qingxin Liu, Wenbin Ma, Xiaoqian Guo, Xuewu Liu
OBJECTIVE: The objective of this study was to analyze the clinical manifestation, course, evolution, image manifestation, and treatments of LGI1 limbic encephalitis (LE). PATIENTS AND METHODS: Studies confirmed that LE with the complex antibody of voltage-gated potassium channels is LGI1 LE. Since then, LE cases have been reported. In this study, 10 typical LE cases were searched in PubMed. These cases and one additional case, which we reported herein, were retrospectively analyzed...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28668775/towards-an-early-clinical-diagnosis-of-sporadic-cjd-vv2-ataxic-type
#15
Simone Baiardi, Anna Magherini, Sabina Capellari, Veronica Redaelli, Anna Ladogana, Marcello Rossi, Fabrizio Tagliavini, Maurizio Pocchiari, Giorgio Giaccone, Piero Parchi
INTRODUCTION: Sporadic Creutzfeldt-Jakob disease (sCJD) includes a broad spectrum of clinical-pathological subtypes, which complicates the clinical differential diagnosis with other rapidly progressive neurological syndromes. AIM: To provide a better characterisation of clinical features and results of diagnostic investigations, especially at an early disease stage, in patients with sCJDVV2, the second most common sCJD subtype. METHODS: We evaluated neurological symptoms/signs, and results of brain diffusion-weighted resonance imaging (DW-MRI), electroencephalographic recordings (EEG) and cerebrospinal fluid (CSF) biomarker studies in 120 patients with a definite (n=93) or probable (n=27) diagnosis of sCJDVV2...
July 1, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28667541/serotonergic-medications-herbal-supplements-and-perioperative-serotonin-syndrome
#16
Mary E Warner, Julian Naranjo, Emily M Pollard, Toby N Weingarten, Mark A Warner, Juraj Sprung
PURPOSE: Perioperative use of serotonergic agents increases the risk of serotonin syndrome. We describe the occurrence of serotonin syndrome after fentanyl use in two patients taking multiple serotonergic agents. CLINICAL FEATURES: Two patients who had been taking multiple serotonergic medications or herbal supplements (one patient taking fluoxetine, turmeric supplement, and acyclovir; the other taking fluoxetine and trazodone) developed serotonin syndrome perioperatively when undergoing outpatient procedures...
June 30, 2017: Canadian Journal of Anaesthesia, Journal Canadien D'anesthésie
https://www.readbyqxmd.com/read/28664294/rare-causes-of-early-onset-dystonia-parkinsonism-with-cognitive-impairment-a-de-novo-psen-1-mutation
#17
Miryam Carecchio, Marina Picillo, Lorella Valletta, Antonio E Elia, Tobias B Haack, Autilia Cozzolino, Annalisa Vitale, Barbara Garavaglia, Arcangela Iuso, Caterina F Bagella, Sabina Pappatà, Paolo Barone, Holger Prokisch, Luigi Romito, Valeria Tiranti
Mutations in PSEN1 are responsible for familial Alzheimer's disease (FAD) inherited as autosomal dominant trait, but also de novo mutations have been rarely reported in sporadic early-onset dementia cases. Parkinsonism in FAD has been mainly described in advanced disease stages. We characterized a patient presenting with early-onset dystonia-parkinsonism later complicated by dementia and myoclonus. Brain MRI showed signs of iron accumulation in the basal ganglia mimicking neurodegeneration with brain iron accumulation (NBIA) as well as fronto-temporal atrophy...
June 29, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28661008/antiepileptic-drug-monotherapy-for-epilepsy-a-network-meta-analysis-of-individual-participant-data
#18
REVIEW
Sarah J Nevitt, Maria Sudell, Jennifer Weston, Catrin Tudur Smith, Anthony G Marson
BACKGROUND: Epilepsy is a common neurological condition with a worldwide prevalence of around 1%. Approximately 60% to 70% of people with epilepsy will achieve a longer-term remission from seizures, and most achieve that remission shortly after starting antiepileptic drug treatment. Most people with epilepsy are treated with a single antiepileptic drug (monotherapy) and current guidelines from the National Institute for Health and Care Excellence (NICE) in the United Kingdom for adults and children recommend carbamazepine or lamotrigine as first-line treatment for partial onset seizures and sodium valproate for generalised onset seizures; however a range of other antiepileptic drug (AED) treatments are available, and evidence is needed regarding their comparative effectiveness in order to inform treatment choices...
June 29, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28658112/propofol-decreases-etomidate-related-myoclonus-in-gastroscopy
#19
RANDOMIZED CONTROLLED TRIAL
Jinfeng Liu, Rongfang Liu, Chao Meng, Zhenhua Cai, Xiaoqi Dai, Chao Deng, Jiahang Zhang, Huacheng Zhou
OBJECTIVE: Myoclonus, a common complication during intravenous induction with etomidate, is bothersome to both anesthesiologists and patients. This study explored the preventive effect of pretreatment with propofol on etomidate-related myoclonus. METHODS: This was a prospective, double-blind, clinical, randomized controlled study. Totally, 363 patients who were scheduled for a short-duration, painless gastrointestinal endoscopy were divided into 5 groups. Four groups received 0 mg/kg (E group), 0...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28653943/a-patient-with-a-typical-presentation-of-wernicke-encephalopathy-was-found-to-have-sporadic-creutzfeldt-jakob-disease
#20
K Goossens, R L van Bruchem-Visser
Creutzfeldt-Jakob disease (CJD) has a significant degree of clinical heterogeneity that is especially found in the features at onset. Here we present a patient with the sporadic form of CJD mimicking Wernicke encephalopathy. We first treated him with a high dose of thiamine; however, the vitamin B1 levels proved to be normal, which ruled out Wernicke encephalopathy. Meanwhile, his clinical condition progressively worsened and he developed a rapidly progressive cognitive disorder, mutism and myoclonus of the muscles...
June 2017: Netherlands Journal of Medicine
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