keyword
https://read.qxmd.com/read/38369329/-a-case-of-bilateral-middle-cerebellar-peduncle-infarction-with-hot-cross-bun-sign
#21
JOURNAL ARTICLE
Daisuke Kuzume, Yuko Morimoto, Satoshi Tsutsumi, Masahiro Yamasaki, Naohisa Hosomi
A 71-year-old man with hypertension and diabetes mellitus presented to our hospital because he felt lightheaded. Diffusion-weighted images (DWI) on brain MRI showed high signal lesions in the left cerebellar hemisphere and the right pons. The diagnosis of cerebellar infarction was made, but he refused treatment. One month later, he came to our hospital because his body leaned to the left. Neurological examination revealed dysarthria and cerebellar truncal ataxia. An electrocardiogram showed atrial fibrillation...
February 17, 2024: Rinshō Shinkeigaku, Clinical Neurology
https://read.qxmd.com/read/38358180/serpent-strikes-sapien-sways-a-rare-case-of-bilateral-cerebellar-infarct-following-viper-bite
#22
K M Srinath, Mahim Sethi, B Madhu, M C Prasad, Sunila B Sangappa
Ischemic stroke following snake bite is rare. We report a posterior circulation infarct involving bilateral cerebellum and occipital lobe following Russell's viper bite in a previously healthy individual. A 50 years old healthy individual, soon after being bitten by the Russel viper on the left foot he developed pain and swelling followed by drooping of eyelids, slurring of speech and giddiness with multiple episodes of vomiting. The patient was administered ASV as well as neostigmine and atropine injections...
2024: Annals of African Medicine
https://read.qxmd.com/read/38342957/early-prenatal-diagnosis-of-causative-homozygous-variants-in-ascc1-in-a-fetus-with-cystic-hygroma-and-additional-homozygous-variants-of-unknown-significance-associated-with-a-neurological-phenotype-not-visible-in-early-gestation-dual-diagnosis-or-not
#23
Maud Favier, Julian Delanne, Guillaume Gorincour, Laurence Faivre, Caroline Racine, Christophe Philippe, Yannis Duffourd, Antonio Vitobello, Thierry Rousseau, Olivia Martz, Georges Tarris, Camélia Oualiken, Christel Thauvin-Robinet, Frédéric Tran Mau-Them
A consanguineous couple was referred at 10 weeks of gestation (WG) for prenatal genetic investigations due to isolated cystic hygroma. Prenatal trio exome sequencing identified causative homozygous truncating variants in ASCC1 previously implicated in spinal muscular atrophy with congenital bone fractures. Prenatal manifestations in ASCC1 can usually include hydramnios, fetal hypo-/akinesia, arthrogryposis, contractures and limb deformities, hydrops fetalis and cystic hygroma. An additional truncating variant was identified in CSPP1 associated with Joubert syndrome...
February 11, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38335410/case-report-lateral-medullary-syndrome-with-eight-and-a-half-syndromes
#24
JOURNAL ARTICLE
Chun Zuo, Mingmin Zhao, Lei Zhao, Nan Meng, Xing Xing, Na Li
RATIONALE: Lateral medullary syndrome is caused by atherosclerosis or embolism of the vertebral artery and its branches or the posterior inferior cerebellar artery (PICA).The eight-and-a-half syndrome is a rare pontocerebellar nerve-ocular syndrome presenting as a one-and-a-half syndrome plus ipsilateral seventh cerebral nerve palsy. The dorsolateral medullary syndrome combined with the eight-and-a-half syndromes is even rarer, so it is important to recognize the features of the classical brainstem syndrome and the eight-and-a-half syndromes...
February 9, 2024: Medicine (Baltimore)
https://read.qxmd.com/read/38327744/case-report-unilateral-paralysis-of-the-hypoglossal-nerve-as-the-only-clinical-sign-of-clivus-meningioma-%C3%A2-a-case-report-and-literature-review
#25
Jelena Stamenović, Biljana Živadinović, Vanja Đurić
INTRODUCTION: Clivus meningiomas are benign tumors that occur at the skull base in the posterior cranial fossa. Symptoms usually progress several months or years before diagnosis and may include: headache, vertigo, hearing impairment, ataxia with gait disturbances, sensory problems. In the neurological findings, paralysis of the lower cranial nerves is most often seen, which in the later course can be accompanied by cerebellar and pyramidal signs until the development of a consciousness impairment...
2024: Frontiers in Oncology
https://read.qxmd.com/read/38324175/comprehensive-analysis-of-a-japanese-pedigree-with-biallelic-acagg-expansions-in-rfc1-manifesting-motor-neuronopathy-with-painful-muscle-cramps
#26
JOURNAL ARTICLE
Rumiko Izumi, Hitoshi Warita, Tetsuya Niihori, Yoshihiko Furusawa, Misa Nakano, Yasushi Oya, Kazuhiro Kato, Takuro Shiga, Kensuke Ikeda, Naoki Suzuki, Ichizo Nishino, Yoko Aoki, Masashi Aoki
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is an autosomal recessive multisystem neurologic disorder caused by biallelic intronic repeats in RFC1. Although the phenotype of CANVAS has been expanding via diagnostic case accumulation, there are scant pedigree analyses to reveal disease penetrance, intergenerational fluctuations in repeat length, or clinical phenomena (including heterozygous carriers). We identified biallelic RFC1 ACAGG expansions of 1000 ~ repeats in three affected siblings having sensorimotor neuronopathy with spinocerebellar atrophy initially presenting with painful muscle cramps and paroxysmal dry cough...
February 7, 2024: Cerebellum
https://read.qxmd.com/read/38321466/internuclear-ophthalmoplegia-as-a-presentation-of-procedural-stroke-a-case-report
#27
JOURNAL ARTICLE
Norachai Sirisreetreerux, Krongkamol Ponglikitmongkol
BACKGROUND: Cardiac catheterization and endovascular procedures are extensively used in modern medicine, and procedural stroke is one of the major complications that the catheterization laboratory team may face in their everyday work. Recognizing the signs and symptoms of procedural stroke is crucial to ensuring appropriate management. We herein report a case of internuclear ophthalmoplegia that caused blurred vision, diplopia, and dizziness on lateral gaze as an unusual presentation of procedural stroke...
February 7, 2024: Journal of Medical Case Reports
https://read.qxmd.com/read/38289763/mean-intracranial-volume-of-brain-among-patients-with-normal-magnetic-resonance-imaging-referred-to-the-department-of-radiology-and-imaging-of-a-tertiary-care-centre
#28
JOURNAL ARTICLE
Om Biju Panta, Bibek Gurung, Shahjan Raj Giri, Abhishek Adhikari, Ram Kumar Ghimire
INTRODUCTION: The measurement of brain volume is an important aspect of the assessment of brain structure and function. However, limited data is available on brain volumetry in the Nepalese population. The study aimed to find the mean intracranial volume of the brain among patients with normal magnetic resonance imaging referred to the Department of Radiology and Imaging of a tertiary care centre. METHODS: A descriptive cross-sectional study was conducted among patients with normal magnetic resonance imaging referred to the Department of Radiology and Imaging in a tertiary care centre...
December 1, 2023: JNMA; Journal of the Nepal Medical Association
https://read.qxmd.com/read/38284996/autoantibody-status-neuroradiological-and-clinical-findings-in-children-with-acute-cerebellitis
#29
MULTICENTER STUDY
L Quack, S Glatter, A Wegener-Panzer, R Cleaveland, A Bertolini, V Endmayr, R Seidl, M Breu, E Wendel, M Schimmel, M Baumann, M Rauchenzauner, M Pritsch, N Boy, T Muralter, G Kluger, C Makoswski, V Kraus, S Leiz, C Loehr-Nilles, J H Kreth, S Braig, S Schilling, J Kern, C Blank, B Tro Baumann, S Vieth, M Wallot, M Reindl, H Ringl, K P Wandinger, F Leypoldt, R Höftberger, K Rostásy
BACKGROUND: Acute cerebellitis (AC) in children and adolescents is an inflammatory disease of the cerebellum due to viral or bacterial infections but also autoimmune-mediated processes. OBJECTIVE: To investigate the frequency of autoantibodies in serum and CSF as well as the neuroradiological features in children with AC. MATERIAL AND METHODS: Children presenting with symptoms suggestive of AC defined as acute/subacute onset of cerebellar symptoms and MRI evidence of cerebellar inflammation or additional CSF pleocytosis, positive oligoclonal bands (OCBs), and/or presence of autoantibodies in case of negative cerebellar MRI...
November 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38281727/risk-of-serious-intracranial-pathology-in-children-presenting-with-acute-acquired-comitant-esotropia-a-20-year-retrospective-review
#30
JOURNAL ARTICLE
Elie Côté, Y Arun Reginald, Michael J Wan
PURPOSE: Acute acquired comitant esotropia (AACE) is defined as a sudden-onset constant nonaccommodative esodeviation. The purpose of this study was to determine the risk of serious intracranial pathology in children presenting with AACE. DESIGN: Retrospective observational cohort study. SETTING: Tertiary care pediatric hospital. METHODS: The study included consecutive children who met the diagnostic criteria for AACE and had neuroimaging at a tertiary care pediatric hospital between 2000 and 2020...
January 25, 2024: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
https://read.qxmd.com/read/38279833/spinocerebellar-ataxia-27b-a-novel-frequent-and-potentially-treatable-ataxia
#31
REVIEW
David Pellerin, Matt C Danzi, Mathilde Renaud, Henry Houlden, Matthis Synofzik, Stephan Zuchner, Bernard Brais
Hereditary ataxias, especially when presenting sporadically in adulthood, present a particular diagnostic challenge owing to their great clinical and genetic heterogeneity. Currently, up to 75% of such patients remain without a genetic diagnosis. In an era of emerging disease-modifying gene-stratified therapies, the identification of causative alleles has become increasingly important. Over the past few years, the implementation of advanced bioinformatics tools and long-read sequencing has allowed the identification of a number of novel repeat expansion disorders, such as the recently described spinocerebellar ataxia 27B (SCA27B) caused by a (GAA)•(TTC) repeat expansion in intron 1 of the fibroblast growth factor 14 (FGF14) gene...
January 2024: Clinical and Translational Medicine
https://read.qxmd.com/read/38275506/the-impact-of-demographic-and-clinical-factors-on-the-quality-of-life-in-patients-with-neurodegenerative-cerebellar-ataxias
#32
JOURNAL ARTICLE
Olivera Tamaš, Gorica Marić, Milutin Kostić, Andona Milovanović, Katarina Đurđević, Biljana Salak Đokić, Elka Stefanova, Tatjana Pekmezović, Nataša Dragašević-Mišković
In neurodegenerative cerebellar ataxias, not only ataxia but also extra-cerebellar signs have a significant impact on patients' health related to quality of life (HRQoL). The aim of this study was to evaluate the various aspects of HRQoL and predictors of QoL in patients with neurodegenerative cerebellar ataxias. We included a total of 107 patients with cerebellar degenerative ataxia. Patients filled out the validated Serbian version of the SF-36 used for the assessment of HRQoL. All patients were clinically evaluated using SARA, INAS, and neuropsychological tests to assess their global cognitive status and different psychiatric scales...
December 19, 2023: Brain Sciences
https://read.qxmd.com/read/38275433/neurodevelopmental-outcome-and-neuroimaging-of-very-low-birth-weight-infants-from-an-italian-nicu-adopting-the-family-centered-care-model
#33
JOURNAL ARTICLE
Licia Lugli, Marisa Pugliese, Natascia Bertoncelli, Luca Bedetti, Cristina Agnini, Isotta Guidotti, Maria Federica Roversi, Elisa Muttini Della Casa, Francesca Cavalleri, Alessandra Todeschini, Antonella Di Caprio, Tommaso Zini, Lucia Corso, Francesca Miselli, Fabrizio Ferrari, Alberto Berardi
BACKGROUND: Improvements in perinatal care have substantially decreased mortality rates among preterm infants, yet their neurodevelopmental outcomes and quality of life persist as a pertinent public health concern. Family-centered care has emerged as a holistic philosophy that promotes effective alliances among patients, families, and healthcare providers to improve the quality of care. AIMS: This longitudinal prospective study aims to evaluate the neurodevelopmental outcomes and brain MRI findings in a cohort of preterm newborns admitted to a neonatal intensive care unit (NICU) adopting a family-centered care model...
December 21, 2023: Children
https://read.qxmd.com/read/38249302/delayed-diagnosis-of-perrault-syndrome-a-rare-genetic-disorder
#34
Mirgul Bayanova, Aigerim Abilova, Alisa Nauryzbayeva, Zhibek Turarbekova
Perrault syndrome (PRLTS) is a rare autosomal recessive disorder which is associated with pathogenic variants in HSD17B4, HARS2, CLPP, LARS2, GGPS1, RMND1, TWNK, ERAL1, and PRORP genes. The disease is characterized by sensorineural hearing loss, sometimes with neurological signs, including progressive sensory and motor peripheral neuropathy, cerebellar ataxia, mild mental retardation, and ovarian dysgenesis in females. In this article, we report a case of a child diagnosed with spastic diplegic cerebral palsy...
2024: Case Reports in Medicine
https://read.qxmd.com/read/38247033/isolated-ipsilateral-abducens-nerve-palsy-and-contralateral-homonymous-hemianopsia-associated-with-unruptured-posterior-cerebral-artery-aneurysm-a-rare-neurological-finding
#35
JOURNAL ARTICLE
Sandeep Mishra, Saurav Mishra, Sabina Regmi, Kanwaljeet Garg, Shailesh Gaikwad
Cranial nerve palsies can be presenting signs of intracranial aneurysms. There is a classic pairing between an aneurysmal vessel and adjacent nerves leading to cranial neuropathy. Isolated abducens nerve palsy can be a localizing sign of an unruptured vertebrobasilar circulation aneurysm. Aneurysms involving Anterior Inferior Cerebellar Artery (AICA) and Posterior Inferior Cerebellar Artery (PICA) have been reported to be associated with abducens nerve palsy. The symptoms in unruptured aneurysms are due to the mass effect on adjacent neurovascular structures...
January 22, 2024: Journal of Cerebrovascular and Endovascular Neurosurgery
https://read.qxmd.com/read/38226101/f198s-gerstmann-str%C3%A3-ussler-scheinker-syndrome-with-parkinsonism-dyskinesia-and-abnormal-i-123-fp-cit-single-photon-emission-computed-tomography-a-case-report
#36
Rena Y Jiang, Stephen Aradi
Gerstmann-Sträussler-Scheinker syndrome (GSS) is an autosomal dominant neurodegenerative disease caused by point mutations in the prion protein gene (PRNP) . While variable, the clinical presentation typically encompasses progressive cerebellar ataxia, pyramidal signs, and cognitive impairment. Here, we report a case of F198S-associated GSS manifesting levodopa-responsive parkinsonism, levodopa-induced dyskinesia, and an abnormal (I-123)-FP-CIT single-photon emission computed tomography (DaT-SPECT). A 66-year-old male patient presented with six years of progressive recall and language impairment, with an initial impression of primary progressive aphasia...
December 2023: Curēus
https://read.qxmd.com/read/38221848/the-fgf14-gaa-repeat-expansion-in-greek-patients-with-late-onset-cerebellar-ataxia-and-an-overview-of-the-sca27b-phenotype-across-populations
#37
JOURNAL ARTICLE
Chrisoula Kartanou, Alexandros Mitrousias, David Pellerin, Zoi Kontogeorgiou, Pablo Iruzubieta, Marie-Josée Dicaire, Matt C Danzi, Chrysoula Koniari, Konstantinos Athanassopoulos, Marios Panas, Leonidas Stefanis, Stephan Zuchner, Bernard Brais, Henry Houlden, Georgia Karadima, Georgios Koutsis
A pathogenic GAA repeat expansion in the first intron of the fibroblast growth factor 14 gene (FGF14) has been recently identified as the cause of spinocerebellar ataxia 27B (SCA27B). We herein screened 160 Greek index cases with late-onset cerebellar ataxia (LOCA) for FGF14 repeat expansions using a combination of long-range PCR and bidirectional repeat-primed PCRs. We identified 19 index cases (12%) carrying a pathogenic FGF14 GAA expansion, a diagnostic yield higher than that of previously screened repeat-expansion ataxias in Greek LOCA patients...
January 14, 2024: Clinical Genetics
https://read.qxmd.com/read/38213936/orbital-intradiploic-epidermoid-cyst-a-case-report-of-a-rare-entity
#38
Fahad Albadr, Hamdan S Aldosari, Naif S Alsaber, Abdulaziz S Aljurayyad, Wejdan Shabi, Saba M Aldusaymani
Cranial epidermoid cysts are relatively rare. More frequently reported in middle-aged men with a wide variety of signs and symptoms such as headache, seizures, cerebellar and cranial nerve deficits/visual disturbance. The approach for surgical removal of the cyst depends on its size and location. In addition, a multidisciplinary team must be involved due to the common occurrence of misdiagnosis. We present the unusual age of presentation for intradiploic epidermoid cysts. A 14-year-old boy is complaining of a 2-month history of painless progressive swelling of the right eyebrow...
January 2024: Curēus
https://read.qxmd.com/read/38182166/cerebellar-progressive-multifocal-leucoencephalopathy-identified-by-the-shrimp-sign
#39
JOURNAL ARTICLE
Vinit Suri, Ajay Kumar Sinha, Mayank Priyaranjan, Vipin Patel
Progressive multifocal leucoencephalopathy (PML) is a demyelinating disease caused by the John Cunningham (JC) virus, which may get reactivated under certain immunosuppressive states such as AIDS, immunomodulatory therapy and haematological malignancies. PML has been reported rarely even in immunocompetent individuals where no immunodeficiency was present. PML characteristically involves periventricular and juxtacortical white matter. Isolated cerebellar or brainstem PML may be seen rarely. We present a case of a man in his 70s who presented with rapidly progressive cerebellar ataxia, ptosis and bipyramidal signs...
January 5, 2024: BMJ Case Reports
https://read.qxmd.com/read/38173541/abnormal-neurologic-findings-in-patients-with-sickle-cell-disease-without-a-history-of-major-neurologic-events
#40
JOURNAL ARTICLE
Mohammed B Nawaiseh, Ahmed M Yassin, Mohammed Q Al-Sabbagh, Ahmad AlNawaiseh, Hadil Zureigat, Dina Aljbour AlMajali, Rund R Haddadin, Mohammad El-Ghanem, Mohammad Abu-Rub
BACKGROUND AND OBJECTIVES: Patients with sickle cell disease (SCD) are prone to symptomatic neurologic complications. Previous studies reported accrual of neural injury starting at early age, even without having symptomatic neurologic events. The aim of this study was to assess the prevalence and risk factors of abnormal neurologic findings in patients with SCD with no history of major symptomatic neurologic events. METHODS: Our study extracted patients diagnosed with SCD from the Cooperative Study of Sickle Cell Disease...
February 2024: Neurology. Clinical Practice
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