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https://www.readbyqxmd.com/read/27920713/late-onset-langerhans-cell-histiocytosis-with-cerebellar-ataxia-as-an-initial-symptom
#1
Jung-Min Pyun, Hyeyoung Park, Kyung Chul Moon, Beomseok Jeon
Late-onset progressive cerebellar ataxia is a diagnostic challenge because of a poor correlation between genotype and phenotype, and a broad range of secondary causes that extend beyond the neurological field. We report the case of a 45-year-old woman admitted after 2 years of slowly progressing cerebellar ataxia, dysarthria, and emotional instability. Notably, she was diagnosed with diabetes insipidus at the age of 35. As 'idiopathic cerebellar ataxia' was suspected, diagnostic tests, including genetic testing as well as serum and cerebrospinal fluid analyses, and brain magnetic resonance imaging (MRI) were performed...
September 2016: Case Reports in Neurology
https://www.readbyqxmd.com/read/27919794/diagnostic-utility-of-contrast-enhanced-3d-t1-weighted-imaging-in-acute-cerebral-infarction-associated-with-graves-disease
#2
Yasufumi Gon, Manabu Sakaguchi, Naoki Oyama, Hideki Mochizuki
Graves disease is rarely complicated with cerebrovascular steno-occlusive diseases. Previous studies have suggested several hypotheses for this occurrence, including excess thyroid hormone, which stimulates the sympathetic nervous system, which in turn causes an abnormal hemodynamic response with consequent atherosclerotic changes, and antithyroid antibodies cause local vascular inflammation in patients with Graves disease. However, radiological findings of vasculitis in patients with Graves disease and cerebral infarction remain less known...
December 2, 2016: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/27919504/successful-treatment-of-paroxysmal-ataxia-and-dysarthria-in-multiple-sclerosis-with-levetiracetam
#3
Shikha J Goodwin, Adam F Carpenter
BACKGROUND: Paroxysmal ataxia and dysarthria (PAD) is a relatively rare symptom in Multiple Sclerosis patients. PAD involves transient dysfunction in control, coordination and initiation of speech and/or limb movements. OBJECTIVE: To describe the successful use of levetiracetam for the treatment of PAD. METHODS: Case report. RESULTS: A 37-year-old woman with MS developed PAD approximately 3 months after a multifocal MS relapse...
November 2016: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/27919237/a-novel-ano3-variant-identified-in-a-53-year-old-woman-presenting-with-hyperkinetic-dysarthria-blepharospasm-hyperkinesias-and-complex-motor%C3%A2-tics
#4
Patrick R Blackburn, Michael T Zimmermann, Jennifer M Gass, Kimberly G Harris, Margot A Cousin, Nicole J Boczek, Owen A Ross, Eric W Klee, Paul W Brazis, Jay A Van Gerpen, Paldeep S Atwal
BACKGROUND: Cervical dystonias have a variable presentation and underlying etiology, but collectively represent the most common form of focal dystonia. There are a number of known genetic forms of dystonia (DYT1-27); however the heterogeneity of disease presentation does not always make it easy to categorize the disease by phenotype-genotype comparison. CASE PRESENTATION: In this report, we describe a 53-year-old female who presented initially with hand tremor following a total hip arthroplasty...
December 5, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27915967/liver-transplant-can-resolve-severe-neuropsychiatric-manifestations-of-wilson-disease-a-case-report
#5
Gregory Walker, Trana Hussaini, Robert Stowe, Silke Cresswell, Eric M Yoshida
Although liver transplant for decompensated cirrhosis secondary to Wilson disease is well accepted, the use of transplant for patients with severe neurologic manifestations of this condition remains controversial, and these can be perceived as a contraindication. Here, we describe a 45-year-old woman who presented with an incidental hepatocellular carcinoma at the time of transplant. The patient had severe neurologic manifestations of Wilson disease pretransplant, including dysarthria, hyperreflexia, asymmetrical ataxia, tremor, bradyphrenia, and shuffling gait...
December 2, 2016: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/27909274/-three-mitral-valve-operations-in-a-patient-with-trousseau-syndrome-and-nonbacterial-thrombotic-endocarditis-caused-by-ovarian-cancer
#6
Masahito Saito, Naoki Asano, Kazunori Ota, Kazuho Niimi, Koyu Tanaka, Shigeyoshi Gon, Hiroshi Takano
A 52-year-old woman was admitted to our hospital for acute right hemi-paresis, left homonymous hemianopia, and fever. Magnetic resonance imaging of the brain showed multiple cerebral infarctions and transesophageal echocardiography (TEE) revealed a vegetation on the posterior leaflet of her mitral valve. Mitral valve repair was performed under a diagnosis of infective endocarditis (IE). Further multiple cerebral infarctions occurred on the 11th postoperative day, resulting in left hemiplegia and dysarthria...
December 2016: Kyobu Geka. the Japanese Journal of Thoracic Surgery
https://www.readbyqxmd.com/read/27908616/spinocerebellar-ataxia-15-a-phenotypic-review-and-expansion
#7
REVIEW
Philip W Tipton, Kimberly Guthrie, Audrey Strongosky, Ronald Reimer, Zbigniew K Wszolek
Spinocerebellar ataxia 15 (SCA15) is a clinically heterogeneous movement disorder characterized by the adult onset of slowly progressive cerebellar ataxia. ITPR1 is the SCA15 causative gene. However, despite numerous reports of genetically-confirmed SCA15, phenotypic uncertainty persists. We reviewed the phenotypes of 60 patients for whom SCA15 was confirmed by the presence of a genetic deletion involving ITPR1. The most prevalent symptoms were gait ataxia (88.3%), dysarthria (75.0%), nystagmus (73.3%), and limb ataxia (71...
November 10, 2016: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/27908075/the-relationship-between-perceptual-disturbances-in-dysarthric-speech-and-automatic-speech-recognition-performance
#8
Ming Tu, Alan Wisler, Visar Berisha, Julie M Liss
State-of-the-art automatic speech recognition (ASR) engines perform well on healthy speech; however recent studies show that their performance on dysarthric speech is highly variable. This is because of the acoustic variability associated with the different dysarthria subtypes. This paper aims to develop a better understanding of how perceptual disturbances in dysarthric speech relate to ASR performance. Accurate ratings of a representative set of 32 dysarthric speakers along different perceptual dimensions are obtained and the performance of a representative ASR algorithm on the same set of speakers is analyzed...
November 2016: Journal of the Acoustical Society of America
https://www.readbyqxmd.com/read/27908060/individual-differences-in-the-perception-of-regional-nonnative-and-disordered-speech-varieties
#9
Tessa Bent, Melissa Baese-Berk, Stephanie A Borrie, Megan McKee
Speech perception abilities vary substantially across listeners, particularly in adverse conditions including those stemming from environmental degradation (e.g., noise) or from talker-related challenges (e.g., nonnative or disordered speech). This study examined adult listeners' recognition of words in phrases produced by six talkers representing three speech varieties: a nonnative accent (Spanish-accented English), a regional dialect (Irish English), and a disordered variety (ataxic dysarthria). Semantically anomalous phrases from these talkers were presented in a transcription task and intelligibility scores, percent words correct, were compared across the three speech varieties...
November 2016: Journal of the Acoustical Society of America
https://www.readbyqxmd.com/read/27905264/biotin-thiamine-responsive-basal-ganglia-disease-catastrophic-consequences-of-delay-in-diagnosis-and-treatment
#10
Hussein Algahtani, Saeed Ghamdi, Bader Shirah, Bader Alharbi, Raghad Algahtani, Abdulrahman Bazaid
BACKGROUND: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder caused by mutations in the SLC19A3 gene. The disease is characterized by subacute encephalopathy with confusion, dysphagia, dysarthria, and seizures. METHODS: We diagnosed a family affected by BTBGD and studied them including prognosis of cases when diagnosed and treated early in the disease process. We also review the literature comprehensively and summarize all published data about this disorder...
December 1, 2016: Neurological Research
https://www.readbyqxmd.com/read/27900367/whole-genome-sequencing-of-two-probands-with-hereditary-spastic-paraplegia-reveals-novel-splice-donor-region-variant-and-known-pathogenic-variant-in-spg11
#11
Allen Chi-Shing Yu, Anne Yin-Yan Chan, Wing Chi Au, Yun Shen, Ting Fung Chan, Ho-Yin Edwin Chan
Hereditary spastic paraplegias (HSPs) are a group of heterogeneous neurodegenerative disorders, which are often presented with overlapping phenotypes such as progressive paraparesis and spasticity. To assist the diagnosis of HSP subtypes, next-generation sequencing is often used to provide supporting evidence. In this study, we report the case of two probands from the same family with HSP symptoms, including bilateral lower limb weakness, unsteady gait, cognitive decline, dysarthria, and slurring of speech since the age of 14...
November 2016: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/27894006/distinct-patterns-of-imprecise-consonant-articulation-among-parkinson-s-disease-progressive-supranuclear-palsy-and-multiple-system-atrophy
#12
Tereza Tykalova, Jan Rusz, Jiri Klempir, Roman Cmejla, Evzen Ruzicka
Distinct speech characteristics that may aid in differentiation between Parkinson's disease (PD), progressive supranuclear palsy (PSP) and multiple system atrophy (MSA) remain tremendously under-explored. Here, the patterns and degree of consonant articulation deficits across voiced and voiceless stop plosives in 16 PD, 16 PSP, 16 MSA and 16 healthy control speakers were evaluated using acoustic and perceptual methods. Imprecise consonant articulation was observed across all Parkinsonian groups. Voice onset time of voiceless plosives was more prolonged in both PSP and MSA compared to PD, presumably due to greater severity of dysarthria and slower articulation rate...
November 25, 2016: Brain and Language
https://www.readbyqxmd.com/read/27891744/inducing-speech-errors-in-dysarthria-using-tongue-twisters
#13
Heather Kember, Kathryn Connaghan, Rupal Patel
Although tongue twisters have been widely use to study speech production in healthy speakers, few studies have employed this methodology for individuals with speech impairment. The present study compared tongue twister errors produced by adults with dysarthria and age-matched healthy controls. Eight speakers (four female, four male; mean age = 54.5 years) with spastic (mixed-spastic) dysarthria of varying aetiology (cerebral palsy, multiple sclerosis, multiple system atrophy) and eight controls (four female, four male; mean age = 56...
November 27, 2016: International Journal of Language & Communication Disorders
https://www.readbyqxmd.com/read/27890763/positional-occlusion-of-vertebral-artery-due-to-cervical-spondylosis-as-rare-cause-of-wake-up-stroke-report-of-2-cases
#14
Hirofumi Nishikawa, Fumitaka Miya, Yotaro Kitano, Genshin Mori, Shigetoshi Shimizu, Hidenori Suzuki
BACKGROUND: Positional compression of the vertebral artery (VA) due to cervical spondylosis is an uncommon cause of stroke. We report two cases of cervical spondylosis causing wake-up stroke, which is extremely rare. CASE DESCRIPTION: The first case was a 78-year-old woman who presented with vertigo and vomiting lasting from waking up. Magnetic resonance (MR) images and angiography documented right cerebellar infarction, and stenosis of the right cervical VA. Dynamic angiography revealed that the right VA was occluded when her neck was extended or rotated to the right...
November 24, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/27870630/case-236-middle-interhemispheric-variant-of-holoprosencephaly
#15
Noushin Yahyavi-Firouz-Abadi, Andrea Poretti, Oluwatoyin R Idowu, Alexander H Hoon, Thierry A Huisman, Izlem Izbudak
History A 13-year-old girl presented for evaluation and further management of spastic diplegia cerebral palsy. Absence of the corpus callosum was noted at screening prenatal head ultrasonography. She was born at full term via spontaneous vaginal delivery. Physical examination revealed decreased axial muscle tone and increased muscle tone in her extremities; the latter was more severe. She was nonambulatory. No midline craniofacial anomaly was seen. She had dysarthria but was able to speak in full sentences...
December 2016: Radiology
https://www.readbyqxmd.com/read/27867930/a-case-of-primary-central-nervous-system-lymphoma-located-at-brain-stem-in-a-child
#16
Jinho Kim, Young Zoon Kim
Primary central nervous system lymphoma (PCNSL) is an extranodal Non-Hodgkin's lymphoma that is confined to the brain, eyes, and/or leptomeninges without evidence of a systemic primary tumor. Although the tumor can affect all age groups, it is rare in childhood; thus, its incidence and prognosis in children have not been well defined and the best treatment strategy remains unclear. A nine-year old presented at our department with complaints of diplopia, dizziness, dysarthria, and right side hemiparesis. Magnetic resonance image suggested a diffuse brain stem glioma with infiltration into the right cerebellar peduncle...
October 2016: Brain Tumor Research and Treatment
https://www.readbyqxmd.com/read/27862032/pleural-drop-metastases-21-years-after-resection-of-a-thymoma
#17
Chia-Chun Chiang, Angela M Parsons, J Scott Kriegshauser, Harshita R Paripati, Matthew A Zarka, A Arturo Leis
INTRODUCTION: We describe an unusual case of pleural drop metastases 21 years after complete resection of an encapsulated thymoma in a Southeast Asian with myasthenia gravis (MG). METHODS: Case report and review of literature. RESULTS: The patient presented in 2015 with generalized weakness, fatigue, and shortness of breath, but no diplopia, ptosis, dysphagia, or dysarthria. Because these symptoms were atypical for an MG exacerbation, a de novo work-up was performed...
November 16, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27856480/dysarthria-in-individuals-with-parkinson-s-disease-a-protocol-for-a-binational-cross-sectional-case-controlled-study-in-french-and-european-portuguese-fralusopark
#18
Serge Pinto, Rita Cardoso, Jasmin Sadat, Isabel Guimarães, Céline Mercier, Helena Santos, Cyril Atkinson-Clement, Joana Carvalho, Pauline Welby, Pedro Oliveira, Mariapaola D'Imperio, Sónia Frota, Alban Letanneux, Marina Vigario, Marisa Cruz, Isabel Pavão Martins, François Viallet, Joaquim J Ferreira
INTRODUCTION: Individuals with Parkinson's disease (PD) have to deal with several aspects of voice and speech decline and thus alteration of communication ability during the course of the disease. Among these communication impairments, 3 major challenges include: (1) dysarthria, consisting of orofacial motor dysfunction and dysprosody, which is linked to the neurodegenerative processes; (2) effects of the pharmacological treatment, which vary according to the disease stage; and (3) particular speech modifications that may be language-specific, that is, dependent on the language spoken by the patients...
November 17, 2016: BMJ Open
https://www.readbyqxmd.com/read/27855658/cytomegalovirus-associated-encephalomyelitis-in-an-immunocompetent-adult-a-two-stage-attack-of-direct-viral-and-delayed-immune-mediated-invasions-case-report
#19
Kensuke Daida, Yuta Ishiguro, Hiroto Eguchi, Yutaka Machida, Nobutaka Hattori, Hideto Miwa
BACKGROUND: It is clinically rare to find cytomegalovirus (CMV)-associated encephalomyelitis in immunocompetent adults. Here, we present the case of an adult patient who developed acute transverse myelitis that was followed by immune-mediated disseminated encephalomyelitis. CASE PRESENTATION: A 38-year-old man developed acute paraplegia with paresthesia below the level of the T7-8 dermatome. Both brain and spinal cord MRIs performed at admission appeared normal...
November 17, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27847778/pseudoaneurysm-formation-after-repetitive-suction-thrombectomy-using-a-penumbra-suction-catheter
#20
Eun-Oh Jeong, Hyon-Jo Kwon, Seung-Won Choi, Hyeon-Song Koh
With the recent advent of suction catheters, the use of manual aspiration thrombectomy (MAT) for patients with acute ischemic stroke with large vessel occlusion has increased. Although contrast leakage and subarachnoid hemorrhage have been reported during MAT procedures, pseudoaneurysm formation due to vessel injury by suction catheters has not been. We discuss the case of a 60-year-old woman who presented to our emergency room with dysarthria and left-sided weakness. She underwent suction thrombectomy 5 times for acute middle cerebral artery occlusion and significant contrast leakage occurred during the procedure...
September 2016: Journal of Cerebrovascular and Endovascular Neurosurgery
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