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https://www.readbyqxmd.com/read/29669602/cerebral-vasculitis-and-lateral-rectus-palsy-two-rare-central-nervous-system-complications-of-dengue-fever-two-case-reports-and-review-of-the-literature
#1
H M M Herath, J S Hewavithana, C M De Silva, O A R Kularathna, N P Weerasinghe
BACKGROUND: Dengue fever is a common mosquito-borne viral illness with a clinical spectrum ranging from a simple febrile illness to potentially life-threatening complications such as dengue hemorrhagic fever and dengue shock syndrome. Dengue infection can affect many organs, including the central nervous system. The neurological manifestations reported in dengue infections are meningitis, encephalitis, stroke, acute disseminated encephalomyelitis, and Guillain-Barré syndrome. CASE PRESENTATION: We report the cases of two interesting patients with confirmed dengue infection who presented with complications of possible central nervous system vasculitis and cranial nerve palsy...
April 19, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29666984/unusual-white-matter-involvement-in-east-syndrome-associated-with-novel-kcnj10-mutations
#2
Mariasavina Severino, Susanna Lualdi, Chiara Fiorillo, Pasquale Striano, Teresa De Toni, Silvio Peluso, Giuseppe De Michele, Andrea Rossi, Mirella Filocamo, Claudio Bruno
BACKGROUND: Epilepsy, ataxia, sensorineural deafness, and tubulopathy (EAST syndrome) is a rare channelopathy due to KCNJ10 mutations. So far, only mild cerebellar hypoplasia and/or dentate nuclei abnormalities have been reported as major neuroimaging findings in these patients. METHODS: We analyzed the clinical and brain MRI features of two unrelated patients (aged 27 and 23 years) with EAST syndrome carrying novel homozygous frameshift mutations (p.Asn232Glnfs*14and p...
April 17, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29645275/central-and-peripheral-chemoreceptors-in-sudden-infant-death-syndrome
#3
Andrea Porzionato, Veronica Macchi, Raffaele De Caro
The pathogenesis of Sudden Infant Death Syndrome (SIDS) has been ascribed to an underlying biological vulnerability to stressors during a critical period of development. This paper reviews the main data in the literature supporting the role of central (e.g. retrotrapezoid nucleus, serotoninergic raphe nuclei, locus coeruleus, orexinergic neurons, ventral medullary surface, solitary tract nucleus) and peripheral (e.g. carotid body) chemoreceptors in the pathogenesis of SIDS. Clinical and experimental studies indicate that central and peripheral chemoreceptors undergo critical development during the initial postnatal period, consistent with the age range of SIDS (< 1 year)...
April 12, 2018: Journal of Physiology
https://www.readbyqxmd.com/read/29626689/petrous-face-meningiomas-classification-clinical-syndromes-and-surgical-outcomes
#4
Stephen T Magill, Jonathan W Rick, William C Chen, David A Haase, David R Raleigh, Manish K Aghi, Philip V Theodosopoulos, Michael W McDermott
BACKGROUND: Petrous face meningiomas (PFM) are challenging tumors due to their proximity to the cranial nerves, brainstem and critical vasculature. The objective of this study is to present surgical outcomes and support an anatomic classification for PFM based on clinical presentation. METHODS: A retrospective chart review was performed, and 51 PFM were identified. Tumors were classified by location along the petrous face into anterior, middle and posterior. Presentation and outcomes were analyzed with logistic regression...
April 4, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29618326/a-novel-homozygous-mutation-in-polr3a-gene-causing-4h-syndrome-a-case-report
#5
Vishal V Tewari, Ritu Mehta, C M Sreedhar, Kunal Tewari, Akbar Mohammad, Neerja Gupta, Sheffali Gulati, Madhulika Kabra
BACKGROUND: 4H syndrome is a congenital hypomyelinating leukodystrophy characterized by hypodontia, hypomyelination and hypogonadotropic hypogonadism belonging to the Pol III-related leukodystrophies which arise due to mutations in the POLR3A or POLR3B gene. The clinical presentation is of neurodevelopmental delay or regression with ataxia, dystonia, nystagmus, delayed deciduous dentition and abnormal order of eruption of teeth. MRI brain shows a characteristic hypomyelination pattern...
April 4, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29615062/kars-related-diseases-progressive-leukoencephalopathy-with-brainstem-and-spinal-cord-calcifications-as-new-phenotype-and-a-review-of-literature
#6
Anna Ardissone, Davide Tonduti, Andrea Legati, Eleonora Lamantea, Rita Barone, Imen Dorboz, Odile Boespflug-Tanguy, Gabriella Nebbia, Marco Maggioni, Barbara Garavaglia, Isabella Moroni, Laura Farina, Anna Pichiecchio, Simona Orcesi, Luisa Chiapparini, Daniele Ghezzi
BACKGROUND: KARS encodes lysyl- transfer ribonucleic acid (tRNA) synthetase, which catalyzes the aminoacylation of tRNA-Lys in the cytoplasm and mitochondria. Eleven families/sporadic patients and 16 different mutations in KARS have been reported to date. The associated clinical phenotype is heterogeneous ranging from early onset encephalopathy to isolated peripheral neuropathy or nonsyndromic hearing impairment. Recently additional presentations including leukoencephalopathy as predominant cerebral involvement or cardiomyopathy, isolated or associated with muscular and cerebral involvement, have been reported...
April 4, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29608654/the-ventrolateral-medulla-and-medullary-raphe-in-sudden-unexpected-death-in-epilepsy
#7
Smriti Patodia, Alyma Somani, Megan O'Hare, Ranjana Venkateswaran, Joan Liu, Zuzanna Michalak, Matthew Ellis, Ingrid E Scheffer, Beate Diehl, Sanjay M Sisodiya, Maria Thom
Sudden unexpected death in epilepsy (SUDEP) is a leading cause of premature death in patients with epilepsy. One hypothesis proposes that sudden death is mediated by post-ictal central respiratory depression, which could relate to underlying pathology in key respiratory nuclei and/or their neuromodulators. Our aim was to investigate neuronal populations in the ventrolateral medulla (which includes the putative human pre-Bötzinger complex) and the medullary raphe. Forty brainstems were studied comprising four groups: 14 SUDEP, six epilepsy controls, seven Dravet syndrome cases and 13 non-epilepsy controls...
March 28, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29598906/posterior-meningeal-artery-origin-patterns-among-300-cases-and-their-clinical-importance
#8
Tomotaka Ohshima, Takashi Handa, Kojiro Ishikawa, Shigeru Miyachi, Naoki Matsuo, Reo Kawaguchi, Masakazu Takayasu
BACKGROUND AND PURPOSE: The posterior meningeal artery (PMA) is known as a dura mater-nourishing vessel. We encountered a patient with Wallenberg syndrome during transarterial embolization of the PMA associated with the dural arteriovenous fistula (DAVF). METHODS: After development of Wallenberg syndrome in the patient, we assessed origins of the PMA patterns in 300 cases and divided them into 3 types. CASE PRESENTATION: A 63-year-old man was incidentally diagnosed as having transverse-sigmoid sinus DAVF with a cortical venous reflux...
March 26, 2018: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/29568536/cerebellar-cognitive-affective-syndrome-insights-from-joubert-syndrome
#9
Chelsea L Hickey, Janet C Sherman, Paula Goldenberg, Amy Kritzer, Paul Caruso, Jeremy D Schmahmann, Mary K Colvin
Background: Joubert syndrome (JS) is a rare, autosomal recessively inherited genetic disorder characterized morphologically by unique developmental malformations of the cerebellum and brainstem (the molar tooth sign), and clinically by impaired motor functions and intellectual disability. Patients with JS often face multiple cognitive challenges, but the neuropsychological profile of this condition has not been well characterized. Methods: We performed comprehensive neurological and neuropsychological evaluations in three adult brothers with JS, ages 32, 27, and 25 years...
2018: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/29557550/brainstem-dysgenesis-beyond-moebius-syndrome
#10
REVIEW
F Munell, M A Tormos, M Roig-Quilis
Brainstem dysgenesis designates all those patients with congenital dysfunction of cranial nerves and muscle tone due to prenatal lesions or malformations of the brainstem. This generic term has the advantage over the eponyms Moebius 'expanded' or 'unrestricted', Robin, Cogan or Carey-Fineman-Ziter syndromes in that it has a less restrictive view and provides a frame work that enables a systematic approach to diagnosis and research of most developmental disorders involving the brainstem. The review of the literature and our experience shows that infants with a predominant rombencephalic involvement are due to brainstem prenatal disruptive vascular accidents, while cases with midbrain and cerebellar involvement and widespread malformative syndromes have most likely an underlying genetic cause...
April 1, 2018: Revista de Neurologia
https://www.readbyqxmd.com/read/29547206/chikungunya-encephalitis-presenting-as-a-brainstem-syndrome-and-boomerang-sign
#11
Rajendra Singh Jain, Ibraheem Khan, Kapil Khandelwal, Pankaj Kumar Saini, Reenu Chaudhary
No abstract text is available yet for this article.
March 2018: Neurology India
https://www.readbyqxmd.com/read/29519455/the-parietal-lobe-and-the-vestibular-system
#12
Marianne Dieterich, Thomas Brandt
The vestibular cortex differs in various ways from other sensory cortices. It consists of a network of several distinct and separate temporoparietal areas. Its core region, the parietoinsular vestibular cortex (PIVC), is located in the posterior insula and retroinsular region and includes the parietal operculum. The entire network is multisensory (in particular, vestibular, visual, and somatosensory). The peripheral and central vestibular systems are bilaterally organized; there are various pontomesencephalic brainstem crossings and at least two transcallosal connections of both hemispheres, between the PIVC and the motion-sensitive visual cortex areas, which also mediate vestibular input...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29515365/persistent-expression-of-serotonin-receptor-5b-alters-breathing-behavior-in-male-mecp2-knockout-mice
#13
Steffen Vogelgesang, Marcus Niebert, Anne M Bischoff, Swen Hülsmann, Till Manzke
Mutations in the transcription factor methyl-CpG-binding protein 2 (MeCP2) cause the neurodevelopmental disorder Rett syndrome (RTT). Besides many other neurological problems, RTT patients show irregular breathing with recurrent apneas or breath-holdings. MeCP2-deficient mice, which recapitulate this breathing phenotype, show a dysregulated, persistent expression of G-protein-coupled serotonin receptor 5-ht5b ( Htr5b ) in the brainstem. To investigate whether the persistence of 5-ht5b expression is contributing to the respiratory phenotype, we crossbred MeCP2-deficient mice with 5-ht5b -deficient mice to generate double knockout mice ( Mecp2-/y ; Htr5b -/- )...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29508057/late-onset-hydrocephalus-in-a-child-with-joubert-syndrome-a-case-report
#14
M K Fehrenbach, U Nestler, J Meixensberger, M K Bernhard, A Merkenschlager, S Weise, M Krause
INTRODUCTION: The ciliopathy "Joubert syndrome" was first described in 1969 by Dr. Marie Joubert and most subtypes follow an autosomal recessive inheritance. The complex disorder shows typical clinical features, such as hyperventilation, abnormal eye movements, and retardation. A pathognomonic midbrain-hindbrain malformation, the molar tooth sign, can be found on magnetic resonance imaging of the brainstem. There are a little more than 200 reports of Joubert syndrome in the literature...
March 5, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29506883/leigh-syndrome-with-spinal-cord-involvement-due-to-a-hemizygous-ndufa1-mutation
#15
Akihiko Miyauchi, Hitoshi Osaka, Masako Nagashima, Mari Kuwajima, Yukifumi Monden, Masakazu Kohda, Yoshihito Kishita, Yasushi Okazaki, Kei Murayama, Akira Ohtake, Takanori Yamagata
Leigh syndrome, which is a common phenotype of pediatric mitochondrial disease, is a progressive neurodegenerative disease. The typical neuroimaging findings of Leigh syndrome include bilateral symmetric lesions in the basal ganglia and/or the brainstem. However, there are a few reports on spinal cord involvement in patients with Leigh syndrome. In the present case, magnetic resonance imaging (MRI) obtained during infancy revealed symmetric lesions in the substantia nigra of a patient with Leigh syndrome with an NDUFA1 mutation; lesions of the bilateral putamen and brainstem were subsequently observed...
March 2, 2018: Brain & Development
https://www.readbyqxmd.com/read/29506874/mt-nd5-mutation-exhibits-highly-variable-neurological-manifestations-at-low-mutant-load
#16
Yi Shiau Ng, Nichola Z Lax, Paul Maddison, Charlotte L Alston, Emma L Blakely, Philippa D Hepplewhite, Gillian Riordan, Surita Meldau, Patrick F Chinnery, Germaine Pierre, Efstathia Chronopoulou, Ailian Du, Imelda Hughes, Andrew A Morris, Smaragda Kamakari, Georgia Chrousos, Richard J Rodenburg, Christiaan G J Saris, Catherine Feeney, Steven A Hardy, Takafumi Sakakibara, Akira Sudo, Yasushi Okazaki, Kei Murayama, Helen Mundy, Michael G Hanna, Akira Ohtake, Andrew M Schaefer, Mike P Champion, Doug M Turnbull, Robert W Taylor, Robert D S Pitceathly, Robert McFarland, Gráinne S Gorman
Mutations in the m.13094T>C MT-ND5 gene have been previously described in three cases of Leigh Syndrome (LS). In this retrospective, international cohort study we identified 20 clinically affected individuals (13 families) and four asymptomatic carriers. Ten patients were deceased at the time of analysis (median age of death was 10years (range: 5·4months-37years, IQR=17·9years). Nine patients manifested with LS, one with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), and one with Leber hereditary optic neuropathy...
February 24, 2018: EBioMedicine
https://www.readbyqxmd.com/read/29499916/dctn1-f52l-mutation-case-of-perry-syndrome-with-progressive-supranuclear-palsy-like-tauopathy
#17
Hiroyuki Honda, Naokazu Sasagasako, Chang Shen, Masahiro Shijo, Hideomi Hamasaki, Satoshi O Suzuki, Yoshio Tsuboi, Naoki Fujii, Toru Iwaki
INTRODUCTION: Perry syndrome is a rapidly progressive, autosomal dominant parkinsonism characterized by central hypoventilation, depression and severe weight loss. To date, eight DCTN1 mutations have been identified associated with Perry syndrome. A novel F52L DCTN1 mutation case of Perry syndrome is characterized by late-onset parkinsonism and frontotemporal atrophy. METHODS: A Japanese woman suffered from slowly progressing parkinsonism since age 48. At age 59, she developed central hypoventilation, and required breathing assistance...
February 23, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29499441/short-transverse-myelitis-in-chinese-patients-with-neuromyelitis-optica-spectrum-disorders
#18
Hongtao Hu, Xiaofan You, Jing Ye
BACKGROUND: Short transverse myelitis (STM) is considered uncommon in neuromyelitis optica spectrum disorders (NMOSD). Poor recognition of STM occurring in NMOSD may lead to increased delay in diagnosis and appropriate treatment. OBJECTIVES: The aim of this study was to assess the frequency and characteristics of STM in Chinese patients with NMOSD. METHODS: We enrolled 91 patients with NMOSD based on the 2015 International Consensus Diagnostic Criteria for NMOSD...
February 19, 2018: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/29494474/hearing-restoration-in-cochlear-nerve-deficiency-the-choice-between-cochlear-implant-or-auditory-brainstem-implant-a-meta-analysis
#19
Annemarie Vesseur, Rolien Free, Chantal Snels, Friedo Dekker, Emmanuel Mylanus, Berit Verbist, Johan Frijns
OBJECTIVE: To answer the dilemma clinician's face when deciding between cochlear implant (CI) and auditory brainstem implant (ABI) treatment options in patients with cochlear nerve deficiency (CND). STUDY DESIGN: Case study supplemented with literature review and meta-analysis. SETTING: Tertiary referral center. PATIENT(S): Child with CHARGE syndrome and congenital deafness. INTERVENTION(S): ABI as there was no benefit after bilateral cochlear implantation...
April 2018: Otology & Neurotology
https://www.readbyqxmd.com/read/29489680/miller-fisher-syndrome-complicated-by-bickerstaff-brainstem-encephalitis-a-case-report
#20
Chaoyang Jing, Zhuo Wang, Chaojia Chu, Ming Dong, Weihong Lin
RATIONALE: Bickerstaff brainstem encephalitis (BBE) and Miller-Fisher syndrome (MFS) might be a pedigree disease. Herein, we report a rare case that fits the diagnoses of both MFS and BBE. PATIENT CONCERNS: A 48-year-old woman was hospitalized due to blurred vision and unsteady gait lasting for 9 days, and numbness of the limbs lasting for 6 days. Physical examination showed restricted eye movement without nystagmus, bilateral flattening of forehead and nasolabial folds, and positive eyelash sign...
March 2018: Medicine (Baltimore)
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