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https://www.readbyqxmd.com/read/29774172/moebius-syndrome-with-hypoglossal-palsy-syndactyly-brachydactyly-and-anisometropic-amblyopia
#1
Muhammad Hassaan Ali, Samreen Jamal, Muhammad Ather Rashid, Usman Javaid, Nadeem Hafeez Butt
Moebius syndrome is a rare cause of congenital facial and abducens palsy.  It is sometimes associated with musculoskeletal abnormalities and other cranial nerve palsies. Genetics and ischemic insults to the fetus are considered to be the cause of this syndrome. We report here a 12-year-old female patient who was presented to us with poor cosmesis of her face, with associated decreased vision and lagophthalmos in her left eye. She didn't have any signs of exposure keratopathy in the affected eye. Her best-corrected vision was 20/20 and 20/60 in right and left eyes respectively...
March 16, 2018: Curēus
https://www.readbyqxmd.com/read/29760003/teaching-video-neuroimages-palsy-of-conjugate-horizontal-gaze-and-face-due-to-isolated-abducens-nuclear-infarction
#2
(no author information available yet)
No abstract text is available yet for this article.
May 15, 2018: Neurology
https://www.readbyqxmd.com/read/29760002/author-response-teaching-video-neuroimages-palsy-of-conjugate-horizontal-gaze-and-face-due-to-isolated-abducens-nuclear-infarction
#3
https://www.readbyqxmd.com/read/29760001/reader-response-teaching-video-neuroimages-palsy-of-conjugate-horizontal-gaze-and-face-due-to-isolated-abducens-nuclear-infarction
#4
https://www.readbyqxmd.com/read/29760000/editors-note-teaching-video-neuroimages-palsy-of-conjugate-horizontal-gaze-and-face-due-to-isolated-abducens-nuclear-infarction
#5
Megan Alcauskas, Steven Galetta
No abstract text is available yet for this article.
May 15, 2018: Neurology
https://www.readbyqxmd.com/read/29696051/are-there-neurological-symptoms-in-type-1-of-gaucher-disease
#6
Mohammadreza Alaei, Narjes Jafari, Farzaneh Rohani, Farzad Ahmadabadi, Rezvan Azadi
Objective: Gaucher disease (GD) is a rare inborn error of metabolism, classified as a lipid storage disorders. This disease is caused by a deficiency in glucocerebrosidase enzyme. It has been classified according to the presence or absence of neurological symptoms into the following types: type 1 non-neuropathic, type 2 acute infantile neuropathic and type 3 or chronic neuropathic. We evaluated neurological symptoms in patients with GD1 and GD3 and compared both of these groups. Materials & Methods: Eleven patients were identified according to their clinical presentation and the presence of disease confirmed by genetic testing, from 2006-2016, at the Mofid Children Hospital Clinic, Tehran, Iran...
2018: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/29629542/diagnostic-utility-of-the-three-step-test-according-to-the-presence-of-the-trochlear-nerve-in-superior-oblique-palsy
#7
Ji Eun Lee, Hee Kyung Yang, Jae Hyoung Kim, Jeong Min Hwang
BACKGROUND AND PURPOSE: To determine the diagnostic utility of the three-step test in unilateral superior oblique palsy (SOP) according to the presence of the trochlear nerve using high-resolution thin-section magnetic resonance imaging. METHODS: In total, 166 patients with congenital and acquired unilateral SOP were included, comprising 87 with a normal trochlear nerve (present group) and 79 without a trochlear nerve (absent group). The sensitivity of each component of the three-step test was evaluated as well as factors related to the sensitivity...
January 2018: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/29608536/eight-syndrome-horizontal-gaze-palsy-plus-ipsilateral-seventh-nerve-palsy
#8
Kemar E Green, David P W Rastall, Eric R Eggenberger
A 62-year-old woman developed a right horizontal gaze palsy and ipsilateral facial nerve palsy due to a right pontine tegmentum infarct. This constitutes a forme fruste of the eight-and-a-half syndrome that we have termed the eight syndrome.
March 30, 2018: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/29525296/further-evidence-for-a-distinctive-atypical-degenerative-parkinsonism-in-the-caribbean-a-new-cluster-in-the-french-west-indian-island-of-martinique
#9
Annie Lannuzel, Régine Edragas, Angéla Lackmy, Benoit Tressières, Véronique Pelonde, Mireille Edimo Nana Kaptué, Sylvie Mécharles, Alexis Demas, Billy François, Eavan McGovern, Marie Vidailhet, Bertrand Gaymard, Emmanuel Roze
BACKGROUND: A high prevalence of an atypical levodopa-resistant parkinsonism has been reported in the Caribbean island of Guadeloupe. These seminal observations have not been replicated or extended to neighbouring populations who share genetic and environmental characteristics. METHODS: To further characterise this atypical parkinsonism we prospectively investigated 305 consecutive patients with neurodegenerative parkinsonism in a community-based population from Guadeloupe and Martinique, a neighbouring French Caribbean island where the population has similar environmental and genetic backgrounds...
February 6, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29507134/pearls-oy-sters-ocular-motor-apraxia-as-essential-differential-diagnosis-to-supranuclear-gaze-palsy-eyes-up
#10
Kerstin Schweyer, Marc Aurel Busche, Jochen Hammes, Andreas Zwergal, Carsten Buhmann, Thilo van Eimeren, Günter U Höglinger
No abstract text is available yet for this article.
March 6, 2018: Neurology
https://www.readbyqxmd.com/read/29505103/interventions-for-eye-movement-disorders-due-to-acquired-brain-injury
#11
REVIEW
Fiona J Rowe, Kerry Hanna, Jennifer R Evans, Carmel P Noonan, Marta Garcia-Finana, Caroline S Dodridge, Claire Howard, Kathryn A Jarvis, Sonia L MacDiarmid, Tallat Maan, Lorraine North, Helen Rodgers
BACKGROUND: Acquired brain injury can cause eye movement disorders which may include: strabismus, gaze deficits and nystagmus, causing visual symptoms of double, blurred or 'juddery' vision and reading difficulties. A wide range of interventions exist that have potential to alleviate or ameliorate these symptoms. There is a need to evaluate the effectiveness of these interventions and the timing of their implementation. OBJECTIVES: We aimed to assess the effectiveness of any intervention and determine the effect of timing of intervention in the treatment of strabismus, gaze deficits and nystagmus due to acquired brain injury...
March 5, 2018: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29467180/ocular-neuromyotonia
#12
Ricardo Soares-Dos-Reis, Ana Inês Martins, Ana Brás, Anabela Matos, Conceição Bento, João Lemos
Ocular neuromyotonia is a rare, albeit treatable, ocular motor disorder, characterised by recurrent brief episodes of diplopia due to tonic extraocular muscle contraction. Ephaptic transmission in a chronically damaged ocular motor nerve is the possible underlying mechanism. It usually improves with carbamazepine. A 53-year-old woman presented with a 4-month history of recurrent episodes of binocular vertical diplopia (up to 40/day), either spontaneously or after sustained downward gaze. Between episodes she had a mild left fourth nerve palsy...
February 21, 2018: Practical Neurology
https://www.readbyqxmd.com/read/29465035/-insufficient-ct-scan-in-visualizing-an-intracerebral-parenchymal-damage-in-a-six-month-old-boy
#13
Louise Kollander Jakobsen, Jacob Madsen, Maria Terase F Simonsen, Søren Kjærgaard
A six-month-old boy fell over, and a crochet hook penetrated his skin underneath his left eye. The hook was removed, and an emergency physician found a Glasgow Coma Scale score of 6-7. A CT scan showed no cerebral or ophthalmic injury. However, the patient was persistently apathic with head- and gaze direction towards the left and a facial nerve palsy. An MRI showed a linear intracerebral lesion stretching through pons into the cerebellar vermis. The patient had neuropaediatric rehabilitation and recovered fully within months...
February 12, 2018: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/29456899/facial-weakness-diplopia-and-fever-in-a-31-year-old-an-atypical-case-of-tuberculous-meningitis
#14
Ahmed H Qavi, Tasnim F Imran, Zachariah Hasan, Fariha Ilyas
Tuberculous meningitis (TBM) is an infection of the central nervous system (CNS) meninges that carries high morbidity and mortality. It is important to recognize, as patients may present with atypical symptoms. We describe the case of a 31-year-old man with a history of diabetes who presented with a sub-acute onset of right-sided facial weakness and right gaze difficulty with diplopia. History revealed low-grade fever, right-sided headache, fatigue and moderate weight loss for the past several weeks. The patient did not report neck stiffness, rigidity, fever, chills or cough...
December 7, 2017: Curēus
https://www.readbyqxmd.com/read/29455271/progressive-supranuclear-palsy-an-update
#15
REVIEW
Melissa J Armstrong
PURPOSE OF REVIEW: Progressive supranuclear palsy (PSP) is a 4R tau neuropathologic entity. While historically defined by the presence of a vertical supranuclear gaze palsy and falls in the first symptomatic year, clinicopathologic studies identify alternate presenting phenotypes. This article reviews the new PSP diagnostic criteria, diagnostic approaches, and treatment strategies. RECENT FINDINGS: The 2017 International Parkinson and Movement Disorder Society PSP criteria outline 14 core clinical features and 4 clinical clues that combine to diagnose one of eight PSP phenotypes with probable, possible, or suggestive certainty...
February 17, 2018: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/29446798/life-threatening-headaches-in-children-clinical-approach-and-therapeutic-options
#16
Nagma Dalvi, Lalitha Sivaswamy
Life-threatening headaches in children can present in an apoplectic manner that garners immediate medical attention, or in an insidious, more dangerous form that may go unnoticed for a relatively long period of time. The recognition of certain clinical characteristics that accompany the headache should prompt recognition and referral to an institution equipped with neuroimaging facilities, pediatric neurosurgeons, and neurologists. Thunderclap headaches, which reach a peak within a very short period of time, may be the presenting feature of conditions such as arterial dissection, venous sinus thrombosis, and reversible cerebral vasoconstriction syndrome, which can be addressed by specific pharmacological options instituted in an intensive care setting...
February 1, 2018: Pediatric Annals
https://www.readbyqxmd.com/read/29397615/-clinical-features-and-gene-mutation-analysis-of-patients-with-niemann-pick-disease-type-c
#17
S C Ren, Z X Tian, Y X Deng, Y J Wang, X J Wu, Y Z Zhang, B Q Gao
Objective: To analyze the clinical manifestations, therapeutic efficacy, prognosis and characteristics of NPC1 mutation in Chinese patients with Niemann-Pick disease type C(NPC). Methods: Ten unrelated Chinese NPC patients were diagnosed by NPC1 mutation analysis from July 2013 to February 2017 in Beijing Tian Tan Hospital of Capital Medical University. Clinical data of 10 cases were analyzed retrospectively which included clinical manifestations, laboratory results and NPC1 gene mutation features, and a series of follow-up were carried out about therapeutic efficacy and prognosis...
January 23, 2018: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/29386618/botulinum-toxin-as-an-initial-therapy-for-management-of-sixth-nerve-palsies-caused-by-nasopharyngeal-carcinomas
#18
E S Wong, C P S Lam, F H S Lau, W W Y Lau, J C S Yam
PurposeThe purpose of this study is to evaluate the efficacy and safety of botulinum toxin injection as a primary treatment for strabismus in a cohort of patients with nasopharyngeal carcinoma (NPC)-related chronic sixth nerve palsy.Patients and methodsWe retrospectively reviewed all cases of NPC-related sixth nerve palsy receiving botulinum toxin injection in the Hong Kong Eye Hospital between January 2009 and January 2016. Only cases with diplopia for at least 6 months; and failed a trial of Fresnel prism therapy were recruited...
April 2018: Eye
https://www.readbyqxmd.com/read/29383261/case-report-of-a-patient-with-one-and-a-half-plus-syndrome-nine-syndrome
#19
Muhammad Uthman, Mehreen Kamran
This case talks about 'One-and-a-half plus syndrome', a clinical syndrome affecting binocular vision and facial nerve. One-and-a-half plus syndrome is a less known clinical syndrome which constitutes of a conjugate horizontal gaze palsy in one direction and an internuclear ophthalmoplegia in the other direction. Despite the known association between ischemia, autoimmune disorders, multiple sclerosis, with mono neuritis multiplex resulting in extra ocular movement disorder, one-and-a-half plus syndrome is rarely considered in the differential diagnosis of eye ball movement disorders, as many clinicians are not able to diagnose such a case as ' the eyes don't see what the mind doesn't know'...
January 2018: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/29336632/m%C3%A3-bius-syndrome-with-cardiac-rhabdomyomas
#20
Aimee Verner, Swati Agarwal-Sinha, Frank Yanfeng Han
BACKGROUND: Möbius syndrome is a rare congenital condition which presents not merely with 6th and 7th nerve palsies, but involves gaze paresis associated with craniofacial, limb, and other abnormalities. Heterogeneity is well known in patients with Möbius syndrome and rather than being of familial inheritance based on rare cases, it is much more recognized as a sporadic syndrome. We report an infant with features of congenital Möbius syndrome associated with cardiac rhabdomyomas in the absence of tuberous sclerosis...
June 2018: Ophthalmic Genetics
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