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https://www.readbyqxmd.com/read/29913178/deficiency-of-adenosine-deaminase-2-special-focus-on-central-nervous-system-imaging
#1
Elif Bulut, Abdulsamet Erden, Omer Karadag, Kader Karli Oguz, Seza Ozen
PURPOSE: To increase the knowledge of central nervous system (CNS) imaging features in deficiency of adenosine deaminase 2 (DADA2) by examining magnetic resonance imaging (MRI) studies of a relatively large number of patients. METHODS: We retrospectively examined neuroimages of 12 patients (7 male, 5 female) diagnosed with DADA2. The mean age of the patients at the time of initial brain MRI was 16.7±10.2 years. Seven patients (58.3%) fulfilled the classification criteria of polyarteritis nodosa...
June 15, 2018: Journal of Neuroradiology. Journal de Neuroradiologie
https://www.readbyqxmd.com/read/29912262/-cerebral-tuberculosis-without-meningitis-in-a-immunocompetent-child
#2
Mónica Ramírez, Eduardo Cortés, José Betancur, Carlos Garcés
Cerebral tuberculosis TB (tuberculomas) without meningitis is an uncommon disease with a high morbidity and mortality. We report on a case that illustrates the complexity of this clinical presentation. An 11 month old, previously healthy male infant was brought to the clinic due to fever present during the last 1.5 months, associated with loss of neurodevelopmental goals and signs of endocranial hypertension. CT scan of the skull revealed dilatation of the ventricular system with transependimary edema; MRI showed multiple intra- and extra-axial micronodular images and hydrocephalus...
April 2018: Revista Chilena de Infectología: órgano Oficial de la Sociedad Chilena de Infectología
https://www.readbyqxmd.com/read/29903437/cerebellar-motor-syndrome-from-children-to-the-elderly
#3
Mario Manto
More than a century after the description of its cardinal components, the cerebellar motor syndrome (CMS) remains a cornerstone of daily clinical ataxiology, in both children and adults. Anatomically, motor cerebellum involves lobules I-V, VI, and VIII. CMS is typically associated with errors in the metrics of voluntary movements and a lack of coordination. Symptoms and motor signs consist of speech deficits, impairments of limb movements, and abnormalities of posture/gait. Ataxic dysarthria has a typical scanning (explosive with staccato) feature, voice has a nasal character, and speech is slurred...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29903436/the-neuropathology-of-the-adult-cerebellum
#4
Arnulf H Koeppen
This chapter summarizes the neuropathologic features of nonneoplastic disorders of the adult cerebellum. Gait ataxia and extremity dysmetria are clinical manifestations of diseases that interrupt the complex cerebellar circuitry between the neurons of the cerebellar cortex, the cerebellar nuclei (especially the dentate nuclei), and the inferior olivary nuclei. The cerebellum is a prominent target of several sporadic and hereditary neurodegenerative diseases, including multiple system atrophy, spinocerebellar ataxia, and Friedreich ataxia...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29901574/paraneoplastic-cerebellar-degeneration-associated-with-cerebellar-hypermetabolism-case-report
#5
Ammar Taha Abdullah Abdulaziz, Xiao Qing Yu, Le Zhang, Xin Yue Jiang, Dong Zhou, Jin Mei Li
RATIONALE: Paraneoplastic cerebellar degeneration (PCD) is an immune-mediated neurological deficit affecting the cerebellum. Anti-Yo antibody positive PCD is a rare occurrence most likely associated with gynecologic or breast malignancies. The identification of the underlying tumor is a diagnostic challenge in many of these patients. PATIENT CONCERNS: We present a 68-year-old woman with acute symptoms of PCD as a first sign of underlying occult malignancy. Further investigation revealed a positive anti-Yo antibody...
June 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29891220/long-term-plasma-exchange-as-maintenance-therapy-for-cerebellar-type-hashimoto-s-encephalopathy-a-case-report
#6
Minh-Ha Tran, Haik Mkhikian, Michael Sy, Ingrid Perez-Alvarez, Michael Demetriou
Hashimoto's encephalopathy (HE) is a presumed autoimmune disorder associated with anti-thyroid autoantibodies and signs and symptoms of encephalopathy. A sub-type of HE is associated with cerebellar dysfunction and ataxia. Immunosuppressive therapy, particularly corticosteroid treatment, is utilized in the majority of cases. Short-term apheresis has been reported with variable patient responses. Here we report the case of a 72 year-old female with an ∼15 year history of cerebellar type HE that had profound improvement in symptoms after long-term apheresis treatment over an ∼2 year period...
May 29, 2018: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/29891079/nonprogressive-congenital-ataxias
#7
Enrico Bertini, Ginevra Zanni, Eugen Boltshauser
The terminology of nonprogressive congenital ataxia (NPCA) refers to a clinically and genetically heterogeneous group of disorders characterized by congenital or early-onset ataxia, but no progression or even improvement on follow-up. Ataxia is preceded by muscular hypotonia and delayed motor (and usually language) milestones. We exclude children with prenatal, perinatal, and postnatal acquired diseases, malformations other than cerebellar hypoplasia, and defined syndromic disorders. Patients with NPCA have a high prevalence of cognitive and language impairments, in addition to increased occurrence of seizures, ocular signs (nystagmus, strabismus), behavior changes, and microcephaly...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29891068/cerebellar-stroke-in-adults-and-children
#8
Hakan Sarikaya, Maja Steinlin
Stroke in older age has reached epidemic proportions worldwide, and an increasing incidence has also been recognized in young adults and children. This chapter deals with stroke occurring in the cerebellum. Cerebellar stroke may present in a completely different way from common stroke syndromes in the anterior cerebral circulation. It can initially mimic benign vestibular neuritis and may later deteriorate into a life-threatening neurologic state. Posterior circulation stroke presents similarly in children and adults...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29891065/cerebellar-mutism-syndrome
#9
Coriene Catsman-Berrevoets, Zoltan Patay
Cerebellar mutism most commonly, but not exclusively, develops in children after surgery for midline cerebellar or intraventricular tumors in the posterior fossa, typically medulloblastoma. Cerebellar mutism syndrome (CMS) comprises a complex set of neurologic and neurocognitive signs and symptoms, the cardinal and central component of which is an initially profound but usually reversible speech disorder. As such, CMS is currently recognized as an extreme form of the so-called cerebellar cognitive affective syndrome (Schmahmann syndrome)...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29891062/essential-tremor-and-the-cerebellum
#10
Elan D Louis
Essential tremor (ET) is a progressive and highly prevalent neurologic disease. Along with the tremors, mild to moderate gait ataxia and other signs of cerebellar dysfunction may occur (i.e., subtle saccadic eye movement abnormalities and abnormalities of motor timing) as well as cognitive features, some of which may be due to cerebellar dysfunction. Numerous neuroimaging studies indicate the presence of functional, metabolic, and structural abnormalities in the cerebellum of a patient with ET. In tandem with these clinical and imaging studies, which were gathering increasing support for the notion that the cerebellum and/or cerebellar systems seemed to be at the root of ET, a growing postmortem literature is for the first time beginning to identify microscopic abnormalities in the ET brain, most of which are centered on the Purkinje cells and connected neuronal populations, and are likely to be degenerative...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29891060/sporadic-adult-onset-ataxia
#11
Thomas Klockgether
Sporadic adult-onset ataxia (SAOA) is a nongenetic neurodegenerative disorder of the cerebellum of unknown cause which manifests with progressive ataxia. It is distinguished from hereditary ataxias and from acquired ataxias. SAOA also needs to be differentiated from multiple system atrophy of cerebellar type (MSA-C). Thus, the diagnosis of SAOA can only be made by exclusion. Although cerebellar ataxia is the prominent symptom in SAOA, patients often have additional nonataxia signs, including pyramidal tracts signs, decreased or absent ankle reflexes, sensory disturbances, mainly in the form of reduced vibration sense, and mild urinary symptoms that do not the fulfill the criteria for severe autonomic failure required for the diagnosis of MSA-C...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29891057/x-linked-ataxias
#12
Ginevra Zanni, Enrico Bertini
X-linked cerebellar ataxias (XLCA) are an expanding group of genetically heterogeneous and clinically variable conditions characterized by cerebellar dysgenesis (hypoplasia, atrophy, or dysplasia) caused by gene mutations or genomic imbalances on the X chromosome. The neurologic features of XLCA include hypotonia, developmental delay, intellectual disability, ataxia, and other cerebellar signs. Normal cognitive development has also been reported. Cerebellar defects may be isolated or associated with other brain malformations or extraneurologic involvement...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29888679/toxicity-associated-with-ingestion-of-a-polyacrylic-acid-hydrogel-dog-pad
#13
David C Dorman, Melanie L Foster, Brooke Olesnevich, Brad Bolon, Aude Castel, Marina Sokolsky-Papkov, Christopher L Mariani
Superabsorbent sodium polyacrylate polymeric hydrogels that retain large amounts of liquids are used in disposable diapers, sanitary napkins, and other applications. These polymers are generally considered "nontoxic" with acute oral median lethal doses (LD50 ) >5 g/kg. Despite this favorable toxicity profile, we identified a novel toxic syndrome in dogs and rats following the ingestion of a commercial dog pad composed primarily of a polyacrylic acid hydrogel. Inappropriate mentation, cerebellar ataxia, vomiting, and intention tremors were observed within 24 h after the ingestion of up to 15...
June 1, 2018: Journal of Veterinary Diagnostic Investigation
https://www.readbyqxmd.com/read/29885794/congenital-tremor-in-piglets-is-bovine-viral-diarrhea-virus-an-etiological-cause
#14
Marina Lopes Mechler, Felipe Dos Santos Gomes, Karla Alvarenga Nascimento, Andressa de Souza-Pollo, Felipe Ferreira Barbosa Pires, Samir Issa Samara, Edviges Maristela Pituco, Luís Guilherme de Oliveira
Congenital tremor in pigs involves several etiologies, including pestivirus, which may cause neurological injuries in different animal species. To evaluate whether bovine viral diarrhea virus (BVDV), an important pestivirus, is one of the etiological agents of congenital tremor in swine, gilts and the fetuses were challenged at 45 days of gestation with BVDV-2. Four pregnant gilts were inoculated oronasally, four gilts underwent fetal intrauterine inoculation, and two gilts constituted the control group. Antibody titers were determined by virus neutralization (VN), and viral RNA was detected by RT-PCR...
July 2018: Veterinary Microbiology
https://www.readbyqxmd.com/read/29870652/a-case-with-reversible-neurotoxicity-induced-by-metronidazole
#15
Fulya Eren, Mehmet Ali Aldan, Vasfiye Burcu Dogan, Günay Gül, Hakan Hatem Selcuk, Aysun Soysal
Background - Metronidazole is a synthetic antibiotic, which has been commonly used for protozoal and anaerobic infections. It rarely causes dose - and duration - unrelated reversible neurotoxicity. It can induce hyperintense T2/FLAIR MRI lesions in several areas of the brain. Although the clinical status is catastrophic, it is completely reversible after discontinuation of the medicine. Case report - 36-year-old female patient who had recent brain abscess history was under treatment of metronidazole for 40 days...
November 30, 2017: Ideggyógyászati Szemle
https://www.readbyqxmd.com/read/29863408/isolated-painful-trigeminal-neuropathy-as-an-unusual-presentation-of-chronic-lymphocytic-inflammation-with-pontine-perivascular-enhancement-responsive-to-steroids-a-case-report
#16
Samantha Bobba, Manisha Narasimhan, Alessandro S Zagami
Background Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is an inflammatory central nervous system disorder, typically presenting with subacute symptoms referable to brainstem and cerebellar pathology. This is the first report of CLIPPERS presenting with a painful trigeminal neuropathy. Case report We report an unusual case of CLIPPERS presenting with facial pain and sensory symptoms, in the absence of other brainstem or cerebellar signs. Perivascular enhancement of peri-pontine structures on neuroimaging, lymphocytic infiltrate on histopathology and rapid clinical and radiological responsiveness to glucocorticosteroids were key to diagnosis...
January 1, 2018: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/29843650/horizontal-gaze-palsy-with-progressive-scoliosis-a-case-report-with-magnetic-resonance-tractography-and-electrophysiological-study
#17
Chi-Wei Lin, Chung-Ping Lo, Min-Chien Tu
BACKGROUND: Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare autosomal recessive congenital anomaly characterized by horizontal gaze limitation and progressive scoliosis. We investigated the underlying pathogenesis by incorporating diffusion tensor imaging and an electrophysiological study. CASE PRESENTATION: A 55-year-old female patient presented to our clinic due to a chronic history of eye movement limitation since childhood. Her eye problem was followed by a progressive scoliotic change in her torso during junior high school...
May 29, 2018: BMC Neurology
https://www.readbyqxmd.com/read/29808311/horizontal-gaze-deviation-on-computed-tomography-the-visual-criterion-and-lesion-characteristics-in-ischemic-stroke
#18
Makoto Kobayashi
Horizontal gaze deviation (HGD) on computed tomography (CT) is considered a useful finding for detecting ischemic stroke. To enhance its availability, we studied the criterion suitable for visual determination and lesion characteristics. The clinical records of 327 ischemic stroke patients and 193 non-stroke controls were reviewed with measurements of eye deviation angles on CT. Initially, the HGD criterion defined by the minimum angle in unidirectionally deviated eyes was determined from control data. Subsequently, patients were classified by infarcted arterial territory and stroke subtype, and compared with controls in HGD frequency using Fisher's exact test...
May 28, 2018: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/29798090/-isolated-vertigo-as-the-first-symptom-of-posterior-circulation-infarction-reporot-of-11-cases
#19
Y X Chen, X Sun, L Y Shi, N T Wang, X Peng, N Wang, C L Ren, X Z Shan
Objective: To analyze the clinical characteristics of patients with cerebellar and brainstem infarction who initially presented with isolated vertigo to avoid misdiagnosing of this disease. Method: Eleven patients with cerebellar and brainstem infarction who initially presented with isolated vertigo treated in our clinic between January 2014 and September 2017 were reviewed and the clinical characteristics and imaging presentation of the patients were evaluated. Result: Vertigo as the first attack was in 5 cases, recurrent attacks was in 6 cases,10 cases were with vascular risk factors except for 1 case, initially diagnosed as vestibular neuritis was 4 cases, Meniere's disease was 1 case, posterior circulartion ischemia was 1 case,and unknown causes was 5 cases; delayed neurological symptoms and signs occurring was 4 cases, but not in other cases; finally determined by brain MRI as acute cerebellar infarction was 5 cases, brainstem infarction was 5 cases, and concurrent cerebellar and brainstem infarction was 1 case...
April 2018: Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery
https://www.readbyqxmd.com/read/29784430/microvascular-decompression-for-hemifacial-spasm-surgical-techniques-and-intraoperative-monitoring
#20
M Sindou, P Mercier
Primary hemifacial spasm with few exceptions is due to the vascular compression of the facial nerve that can be evidenced with high resolution MRI. Microvascular decompression is the only curative treatment for this pathology. According to literature review detailed in chapter "conflicting vessels", the compression is located at the facial Root Exit Zone (REZ) in 95% of the cases, and in 5% distally at the cisternal or the intrameatal portion of the root as the sole conflict or in addition to one at brainstem/REZ...
May 18, 2018: Neuro-Chirurgie
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