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Cerebellar syndrome

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https://www.readbyqxmd.com/read/28527261/-posterior-reversible-encephalopathy-syndrome-report-of-a-fatal-case-and-analysis-of-predictive-factors-of-a-poor-prognosis
#1
Moisés Ulises Torres, Ligia Victoria Delgado, Natalia Giraldo, Piedad Urueña, Sergio Franco, Olga Helena Hernández
Posterior reversible encephalopathy syndrome is an illness with multiple causes and distinctive clinicalradiological characteristics that should be known by intensivists and emergency room physicians for a timely diagnosis and treatment. A fatal case of posterior reversible encephalopathy syndrome is presented, and the risk factors related to the outcome are identified.A 60-year-old man without a relevant medical history arrived at the emergency room presenting with depressed consciousness, seizures, and high blood pressure...
April 1, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28515557/dandy-walker-variant-with-schizophrenia-comorbidity-or-cerebellar-cognitive-affective-syndrome
#2
Pallavi Sinha, Jatin Tarwani, Pankaj Kumar, Amit Garg
Dandy-Walker complex (DWC) is a series of neurodevelopmental anomalies involving the posterior cranial fossa. The cerebellum has long been considered to be involved in motor coordination and balance. However, it has now been noted to play an important role in higher order cognitive, emotional, and behavioral functions. The concept of cerebellar cognitive affective syndrome, describing a coherent spectrum of cognitive and behavioral disturbances in adults following cerebellar damage has long been proposed. There have been reported cases of co-occurring psychiatric symptoms and DWC in literature, but the conclusive evidence for an association between the same remains lacking...
March 2017: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/28514485/occurrence-of-acute-cerebellar-syndrome-after-topical-application-of-fluorouracil
#3
Jo-David Fine, Anna Dewan, Jami L Miller
No abstract text is available yet for this article.
May 17, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/28512508/lhermitte-duclos-disease-and-cerebellar-gangliocytoma-an-incidental-finding-in-a-patient-with-gradual-vision-loss
#4
Akshay Badakere, Pratik Chaugule, Soveeta Souravee Rath
A 50-year-old male patient presented to the neuro-ophthalmology clinic with chief complaints of gradual decrease in vision in both eyes, more in the left eye, for 6 years. On general examination, the patient had a hemiplegic gait. His presenting acuity was 20/50 in the right eye and 20/320 in the left eye, not improving further. He had dense posterior subcapsular cataracts in both eyes, and fundus examination revealed pale discs. Humphrey visual field tests 30-2 revealed a vertical nasal midline defect in the right eye and grossly depressed fields in the left eye...
June 2017: Neuro-ophthalmology
https://www.readbyqxmd.com/read/28508964/tmem67-mutations-found-in-a-case-of-joubert-syndrome-with-renal-hypodysplasia
#5
Yumiko Komatsu, Toshifumi Suzuki, Yoshinori Tsurusaki, Noriko Miyake, Naomichi Matsumoto, Kunimasa Yan
Joubert syndrome is a rare inherited cerebellar ataxia with the dysgenesis of the cerebellar vermis, called the molar tooth sign. The combination of a large number of causative genes, more than 27, and the various clinical features involving multiple organs has established many genotypic-phenotypic correlations in Joubert syndrome. TMEM67 is one of the genes that are relatively well established as contributing to Joubert syndrome with liver involvement. Here, we report a 2-month-old boy who was initially treated for urinary tract infection, which further led to the diagnosis of Joubert syndrome accompanied by renal hypodysplasia with two different mutations: c...
November 2016: CEN Case Reports
https://www.readbyqxmd.com/read/28507545/clinical-and-molecular-heterogeneity-of-rtel1-deficiency
#6
Carsten Speckmann, Sushree Sangita Sahoo, Marta Rizzi, Shinsuke Hirabayashi, Axel Karow, Nina Kathrin Serwas, Marc Hoemberg, Natalja Damatova, Detlev Schindler, Jean-Baptiste Vannier, Simon J Boulton, Ulrich Pannicke, Gudrun Göhring, Kathrin Thomay, J J Verdu-Amoros, Holger Hauch, Wilhelm Woessmann, Gabriele Escherich, Eckart Laack, Liliana Rindle, Maximilian Seidl, Anne Rensing-Ehl, Ekkehart Lausch, Christine Jandrasits, Brigitte Strahm, Klaus Schwarz, Stephan R Ehl, Charlotte Niemeyer, Kaan Boztug, Marcin W Wlodarski
Typical features of dyskeratosis congenita (DC) resulting from excessive telomere shortening include bone marrow failure (BMF), mucosal fragility, and pulmonary or liver fibrosis. In more severe cases, immune deficiency and recurring infections can add to disease severity. RTEL1 deficiency has recently been described as a major genetic etiology, but the molecular basis and clinical consequences of RTEL1-associated DC are incompletely characterized. We report our observations in a cohort of six patients: five with novel biallelic RTEL1 mutations p...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28498095/risk-factors-for-development-of-postoperative-cerebellar-mutism-syndrome-in-children-after-medulloblastoma-surgery
#7
San Y C V Pols, Marie Lise C van Veelen, Femke K Aarsen, Antonia Gonzalez Candel, Coriene E Catsman-Berrevoets
OBJECTIVE Postoperative cerebellar mutism syndrome (pCMS) occurs in 7%-50% of children after cerebellar tumor surgery. Typical features include a latent onset of 1-2 days after surgery, transient mutism, emotional lability, and a wide variety of motor and neurobehavioral abnormalities. Sequelae of this syndrome usually persist long term. The principal causal factor is bilateral surgical damage (regardless of tumor location) to any component of the proximal efferent cerebellar pathway, which leads to temporary dysfunction of cerebral cortical regions as a result of diaschisis...
May 12, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28497710/the-complex-diagnostic-challenge-in-children-with-non-central-nervous-system-cancer-and-cerebellar-mutism
#8
Kathleen Helton, Amy L Patterson, Raja B Khan, Zsila Sadighi
Multiple etiologies should be considered in the differential diagnosis of immunocompromised patients with non-central nervous system cancer and viral infections who develop mutism. Acute cerebellitis, caused by infections or by neurotoxicity resulting from chemotherapy; paraneoplastic cerebellar degeneration; atypical posterior reversible encephalopathy syndrome; and acute disseminated encephalomyelitis may all cause mutism in such patients. This condition warrants prompt recognition and may require treatment with immunotherapy, as it may be an immune-mediated process...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28497568/neuropsychological-phenotypes-of-76-individuals-with-joubert-syndrome-evaluated-at-a-single-center
#9
Angela C Summers, Joseph Snow, Edythe Wiggs, Alexander G Liu, Camilo Toro, Andrea Poretti, Wadih M Zein, Brian P Brooks, Melissa A Parisi, Sara Inati, Dan Doherty, Meghana Vemulapalli, Jim C Mullikin, Thierry Vilboux, William A Gahl, Meral Gunay-Aygun
Joubert syndrome (JS) is a genetically heterogeneous ciliopathy characterized by hypo-dysplasia of the cerebellar vermis, a distinct hindbrain/midbrain malformation (molar tooth sign), and intellectual disability. We evaluated the neuropsychological profiles of 76 participants with JS in the context of molecular genetics and clinical covariates. Evaluations included neuropsychological testing, structured parental interviews, DNA sequencing, brain magnetic resonance imaging (MRI), electroencephalography (EEG), ophthalmologic examination, and assessment for renal and hepatic disease...
May 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28491446/severe-muscle-fasciculations-and-tremor-in-a-cat-with-hypochloraemic-metabolic-alkalosis-secondary-to-duodenal-obstruction
#10
Alison Jukes, Marcus Gunew, Rhett Marshall
CASE SUMMARY: An 18-month-old, female spayed, Australian Mist cat presented with a 24 h history of muscle tremors and inappetence progressing to collapse with generalised muscle fasciculations. The cat was diagnosed with a hypochloraemic metabolic alkalosis due to a duodenal foreign body found to be a trichobezoar at coeliotomy. The cat made a complete recovery after enterotomy to remove the trichobezoar, with cessation of neuromuscular clinical signs and normalisation of its electrolyte and acid-base imbalances...
January 2017: JFMS Open Rep
https://www.readbyqxmd.com/read/28490164/contralateral-superior-cerebellar-artery-syndrome-a-consequence-of-brain-herniation
#11
Meysam Mohseni, Zohreh Habibi, Farideh Nejat
Vascular compromise is a well-known consequence of brain herniation syndromes. Transtentorial brain herniation most often involves posterior cerebral arteries. However, isolated involvement of contralateral superior cerebellar artery (SCA) during unilateral impending brain herniation is reported only once and we present another case of this exceedingly rare entity. A 24-year-old man was referred to us with impending herniation due to a multiloculated hydrocephalus, and during the course of illness, he developed an isolated SCA ischemia in the opposite side of the most dilated entrapped horn...
May 2017: Journal of Korean Neurosurgical Society
https://www.readbyqxmd.com/read/28484820/-vertigo-and-dizziness-in-the-emergency-room
#12
REVIEW
A Zwergal, K Möhwald, M Dieterich
Vertigo and dizziness are among the most common chief complaints in the emergency department. Etiologies can be categorized into three subgroups: neurootological (vestibular), medical (especially cardiovascular, metabolic), and psychiatric disorders. The diagnostic approach in the emergency department is based on a systematic analysis of case history (type, time course of symptoms, modulating factors, associated symptoms), clinical examination of the vestibular, ocular motor, and cerebellar systems (head impulse test, nystagmus, skew deviation, positioning maneuver, test of gait and stance), as well as a basal monitoring (vital signs, 12-lead ECG, blood tests)...
May 8, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28483396/early-diagnosis-of-capos-syndrome-before-acute-onset-ataxia-review-of-the-literature-and-a-new-family
#13
Anna Duat Rodriguez, Michaela Prochazkova, Saturnino Santos Santos, Oscar Rubio Cabezas, Veronica Cantarin Extremera, Luis Gonzalez-Gutierrez-Solana
BACKGROUND: CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare disease that has been reported in 22 patients so far. In all cases, the mutation c.2452G>A (p.Glu818Lys) in the ATP1A3 gene was identified. Patients typically present at an early age with an acute-onset fever-induced episode of ataxia frequently associated with encephalopathy and weakness. They usually present one to three episodes. The acute symptoms improve within days, but most patients show slow progression afterward...
January 25, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28476762/white-matter-microstructure-cognition-and-molecular-markers-in-fragile-x-premutation-females
#14
Annie L Shelton, Kim M Cornish, David Godler, Quang Minh Bui, Scott Kolbe, Joanne Fielding
OBJECTIVE: To examine the interrelationships between fragile X mental retardation 1 (FMR1) mRNA and the FMR1 exon 1/intron 1 boundary methylation, white matter microstructure, and executive function, in women with a FMR1 premutation expansion (PM; 55-199 CGG repeats) and controls (CGG < 44). METHODS: Twenty women with PM without fragile X-associated tremor/ataxia syndrome (FXTAS) and 20 control women between 22 and 54 years of age completed this study. FMR1 mRNA and methylation levels for 9 CpG sites within the FMR1 exon 1/intron 1 boundary from peripheral blood samples were analyzed...
May 5, 2017: Neurology
https://www.readbyqxmd.com/read/28460866/an-unusual-presentation-of-varicella-zoster-virus-with-acute-cerebellitis-and-siadh-without-a-rash
#15
Michal Lubomski, Lauren Brown, Romesh Markus
We report a case of varicella-zoster virus (VZV) infection with acute cerebellitis and encephalitis with associated Syndrome of Inappropriate Antidiuretic Hormone Secretion (SIADH) in an elderly man presenting with acute cerebellar ataxia without antecedent rash. Cerebrospinal fluid examination (CSF) revealed a mononuclear pleocytosis, high protein, normal glucose, positive for VZV polymerase chain reaction (PCR). Early acyclovir treatment is beneficial for acute VZV cerebellitis. Clinicians should consider infectious Central Nervous System (CNS) causes for presentations of acute cerebellar ataxia in adult patients, particularly if there is an accompanying clouded sensorium...
April 28, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28459997/hypomorphic-mutations-in-polr3a-are-a-frequent-cause-of-sporadic-and-recessive-spastic-ataxia
#16
Martina Minnerop, Delia Kurzwelly, Holger Wagner, Anne S Soehn, Jennifer Reichbauer, Feifei Tao, Tim W Rattay, Michael Peitz, Kristina Rehbach, Alejandro Giorgetti, Angela Pyle, Holger Thiele, Janine Altmüller, Dagmar Timmann, Ilker Karaca, Martina Lennarz, Jonathan Baets, Holger Hengel, Matthis Synofzik, Burcu Atasu, Shawna Feely, Marina Kennerson, Claudia Stendel, Tobias Lindig, Michael A Gonzalez, Rüdiger Stirnberg, Marc Sturm, Sandra Roeske, Johanna Jung, Peter Bauer, Ebba Lohmann, Stefan Herms, Stefanie Heilmann-Heimbach, Garth Nicholson, Muhammad Mahanjah, Rajech Sharkia, Paolo Carloni, Oliver Brüstle, Thomas Klopstock, Katherine D Mathews, Michael E Shy, Peter de Jonghe, Patrick F Chinnery, Rita Horvath, Jürgen Kohlhase, Ina Schmitt, Michael Wolf, Susanne Greschus, Katrin Amunts, Wolfgang Maier, Ludger Schöls, Peter Nürnberg, Stephan Zuchner, Thomas Klockgether, Alfredo Ramirez, Rebecca Schüle
Despite extensive efforts, half of patients with rare movement disorders such as hereditary spastic paraplegias and cerebellar ataxias remain genetically unexplained, implicating novel genes and unrecognized mutations in known genes. Non-coding DNA variants are suspected to account for a substantial part of undiscovered causes of rare diseases. Here we identified mutations located deep in introns of POLR3A to be a frequent cause of hereditary spastic paraplegia and cerebellar ataxia. First, whole-exome sequencing findings in a recessive spastic ataxia family turned our attention to intronic variants in POLR3A, a gene previously associated with hypomyelinating leukodystrophy type 7...
April 27, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28456352/bow-hunter-s-syndrome-due-to-left-c7-schwannoma-in-a-patient-with-bilateral-absence-of-the-posterior-inferior-cerebellar-artery
#17
Masanao Mori, Hitoshi Yamahata, Satoshi Yamaguchi, Tadaaki Niiro, Masamichi Atsuchi, Junji Kasuya, Hiroshi Tokimura, Kazunori Arita
No abstract text is available yet for this article.
April 26, 2017: Journal of Orthopaedic Science: Official Journal of the Japanese Orthopaedic Association
https://www.readbyqxmd.com/read/28450438/large-basilar-apex-aneurysms-treated-with-flow-diverter-stents
#18
V Da Ros, J Caroff, A Rouchaud, C Mihalea, L Ikka, J Moret, L Spelle
BACKGROUND AND PURPOSE: The treatment of wide-neck, large basilar apex aneurysms is challenging with either an endovascular or a surgical approach. The aim of the present study was to report our experience treating basilar apex aneurysms with flow-diverter stents and to evaluate their efficacy and safety profile in this specific anatomic condition. MATERIALS AND METHODS: We retrospectively analyzed data from all consecutive patients treated with flow-diverter stents at our institution between January 2011 and January 2015...
April 27, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28448692/a-complex-homozygous-mutation-in-abhd12-responsible-for-pharc-syndrome-discovered-with-ngs-and-review-of-the-literature
#19
REVIEW
Justine Lerat, Pascal Cintas, Hélène Beauvais-Dzugan, Corinne Magdelaine, Franck Sturtz, Anne-Sophie Lia
PHARC syndrome (MIM612674) is an autosomal recessive neurodegenerative pathology that leads to demyelinating Polyneuropathy, Hearing loss, cerebellar Ataxia, Retinitis pigmentosa, and early-onset Cataracts (PHARC). These various symptoms can appear at different ages. PHARC syndrome is caused by mutations in ABHD12 (α-β Hydrolase Domain 12), of which several have been described. We report here a new complex homozygous mutation c.379_385delAACTACTinsGATTCCTTATATACCATTGTAGTCTTACTGCTTTTGGTGAACACA (p.Asn127Aspfs*23)...
April 27, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28446490/complicated-acute-cerebellitis-with-obstructive-hydrocephalus-and-tonsillar-herniation-in-a-child
#20
Manchikanti Venkatesh, Sunitha Vellathussery Chakkalakkoombil, Manju Bashini Duraipandi, Reena Gulati
Acute cerebellitis (AC) is a rare inflammatory syndrome presenting as cerebellar dysfunction, seen more frequently in children. AC can have a variable course with features of cerebellar dysfunction, raised intracranial pressure and neurological deficits, and can sometimes even be potentially fatal due to complications such as obstructive hydrocephalus and brainstem compression, warranting surgical intervention. We report a case of a 12-year-old boy who presented with raised intracranial pressure and ataxia...
April 26, 2017: BMJ Case Reports
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