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https://www.readbyqxmd.com/read/29336632/m%C3%A3-bius-syndrome-with-cardiac-rhabdomyomas
#1
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...
January 16, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29325920/twenty-four-syndrome-an-untold-presentation-of-pontine-hemorrhage
#2
Ummer Karadan, Ramesh N Supreeth, Robin George Manappallil, Chellenton Jayakrishnan
Pontine hemorrhages are relatively uncommon. Various atypical manifestations of pontine stroke like eight-and-a-half syndrome, fifteen-and-a-half syndrome, and sixteen syndrome have been described in the past. We came across a case of pontine bleed that presented with bilateral facial palsy, bilateral horizontal gaze palsy, and contralateral sensorineural hearing loss accounting to the hitherto not described "twenty-four syndrome" with Horner's syndrome and left hemiparesis.
January 8, 2018: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/29312874/one-and-a-half-syndrome-with-its-spectrum-disorders
#3
Fang Xue, Lihong Zhang, Li Zhang, Zhenguang Ying, Ou Sha, Yan Ding
One-and-a-half syndrome is a syndrome characterized by horizontal movement disorders of the eyeballs, which was first reported and named by Fisher in 1967. It presents a combination of ipsilateral conjugate horizontal gaze palsy (one) and ipsilateral internuclear ophthalmoplegia (INO) (a half). On the basis of the one-and-a-half syndrome, there are a series of related rare syndromes called the one-and-a-half syndrome spectrum disorders. This article reviews rare cases of one-and-a-half syndrome spectrum disorder, describes the clinical and pathological features of different syndromes, and summarizes their nomenclature...
December 2017: Quantitative Imaging in Medicine and Surgery
https://www.readbyqxmd.com/read/29299740/augmented-superior-rectus-transposition-procedure-in-duane-retraction-syndrome-compared-with-sixth-nerve-palsy
#4
Mohammadreza Akbari, Setareh Shomali, Arash Mirmohammadsadeghi, Masoud Aghsaei Fard
PURPOSE: Superior rectus transposition (SRT) with medial rectus recession has been used for the treatment of sixth nerve palsy and esotropic Duane retraction syndrome (DRS). The purpose of this study was to compare the results of augmented SRT (with scleral fixation) without medial rectus recession in DRS and sixth nerve palsy. METHODS: Patients with unilateral esotropic DRS (DRS group) and sixth nerve palsy were included in this prospective, comparative study and underwent SRT...
January 3, 2018: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/29237663/progressive-myoclonic-epilepsy-and-horizontal-gaze-palsy-a-rare-aetiology
#5
Rajveer Singh, Aditya Choudhary, Amith S Kumar, Manoj Kumar Goyal
Gaucher's disease is a rare autosomal recessive, potentially fatal disorder but most common type among lysosomal storage disorders. The disease's incidence is around 1/40 000 to 1/60 000 births in the general population. A 32-year-old man, born out of non-consanguineous union, presented with generalised tonic-clonic seizures and myoclonus since 17 years of age. Seizures were noted to be resistant to multiple epileptic drugs. He developed gait imbalance, intentional tremor and dysarthria. Detailed examination revealed hepatosplenomegaly, bilateral pancerebellar signs with normal power, reflexes and sensory system...
December 13, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29215389/horizontal-gaze-palsy-with-progressive-scoliosis-two-novel-robo3-mutations-in-a-compound-heterozygous-sporadic-case
#6
Carmine Ungaro, Sergio Valentini, Antonio Cerasa, Pier Luigi Lanza, Rosalucia Mazzei
No abstract text is available yet for this article.
December 5, 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/29191430/oculomotor-abnormalities-in-children-with-niemann-pick-type-c
#7
James Blundell, Steven Frisson, Anupam Chakrapani, Paul Gissen, Chris Hendriksz, Suresh Vijay, Andrew Olson
Niemann-Pick type C (NP-C) is a rare recessive disorder associated with progressive supranuclear gaze palsy. Degeneration occurs initially for vertical saccades and later for horizontal saccades. There are studies of oculomotor degeneration in adult NP-C patients [1, 2] but no comparable studies in children. We used high-resolution video-based eye tracking to record monocular vertical and horizontal eye movements in 2 neurological NP-C patients (children with clinically observable oculomotor abnormalities) and 3 pre-neurological NP-C patients (children without clinically observable oculomotor abnormalities)...
November 16, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29187832/isolated-horizontal-gaze-palsy-observations-and-explanations
#8
Renee Ewe, Owen B White, Ailbhe Burke
We present three cases that we suggest require a novel diagnosis and a reconsideration of current understandings of pontine anatomy. In this case series, we highlight a series of patients with monophasic, fully recovering inflammatory lesions in the pontine tegmentum not due to any of the currently recognized causes of this syndrome. We highlight other similar cases in the literature and suggest there may be a particular epitope for an as-yet-undiscovered antibody underlying the tropism for this area. We highlight the potential harm of misdiagnosis with relapsing inflammatory or other serious diagnoses with significant adverse impact on the patient...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/29187684/-a-case-of-hereditary-sensory-and-autonomic-neuropathy-type-1e-with-frontal-lobe-dysfunction-as-an-initial-symptom
#9
Masashi Watanabe, Yushi Matsumoto, Kensho Okamoto, Bungo Okuda, Ikuko Mizuta, Toshiki Mizuno
A 49-year-old man had developed gradually personality change, gait disturbance, and hearing loss for five years. On admission, he presented with frontal release signs, stuttering, vertical gaze palsy, sensorineural deafness, muscle rigidity, ataxia, and sensory disturbance with areflexia in the lower extremities. Brain MRI demonstrated atrophy in the cerebellum and midbrain tegmentum as well as cerebral atrophy, predominantly in the frontal lobe. He was tentatively diagnosed as progressive supranuclear palsy on the basis of clinical features and imagings...
November 28, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/29178265/surgical-interventions-for-vertical-strabismus-in-superior-oblique-palsy
#10
REVIEW
Melinda Y Chang, Anne L Coleman, Victoria L Tseng, Joseph L Demer
BACKGROUND: Superior oblique palsy is a common cause of vertical strabismus in adults and children. Patients may be symptomatic from binocular vertical diplopia or compensatory head tilt required to maintain single vision. Most patients who are symptomatic elect to undergo strabismus surgery, but the optimal surgical treatment for vertical strabismus in people with superior oblique palsy is unknown. OBJECTIVES: To assess the relative effects of surgical treatments compared with another surgical intervention, non-surgical intervention, or observation for vertical strabismus in people with superior oblique palsy...
November 27, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29116398/predictive-factors-for-corrective-effect-of-inferior-rectus-recession-for-congenital-superior-oblique-palsy
#11
Manabu Miyata, Kiyo Shibata, Ichiro Hamasaki, Masayuki Hata, Yuki Muraoka, Munemitsu Yoshikawa, Satoshi Hasebe, Hiroshi Ohtsuki
PURPOSE: To identify preoperative factors associated with the surgical corrective effect of contralateral inferior rectus recession (IRR) for vertical deviation in patients with congenital superior oblique palsy (SOP). METHODS: This retrospective study included 20 treatment-naïve patients with unilateral congenital SOP (age range, 6-79 years) who underwent contralateral IRR according to our basic policy to select IRR for paretic eye fixation. The corrective effect (°/mm) of IRR was defined as the difference in the vertical deviation at the primary gaze position between before and 6-18 months after surgery per distance of recession...
November 7, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/29113357/brain-gray-matter-abnormalities-in-progressive-supranuclear-palsy-revisited
#12
PingLei Pan, Yi Liu, Yang Zhang, Hui Zhao, Xing Ye, Yun Xu
Whole-brain voxel-based morphometry (VBM) studies of progressive supranuclear palsy (PSP) have demonstrated heterogeneous findings regarding gray matter (GM) abnormalities. Here, we used Seed-based d Mapping, a coordinate-based meta-analytic approach to identify consistent regions of GM anomalies across studies of PSP. Totally, 18 original VBM studies, comprising 284 patients with PSP and 367 healthy controls were included. As compared to healthy controls, patients with PSP demonstrated significant GM reductions in both cortical and subcortical regions, including the frontal motor cortices, medial (including anterior cingulate cortex) and lateral frontal cortices, insula, superior temporal gyrus, striatum (putamen and caudate nucleus), thalamus, midbrain, and anterior cerebellum...
October 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/29089675/horizontal-gaze-palsy-with-progressive-scoliosis-a-case-report
#13
P Shalini, Virna M Shah
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital disorder characterized by absence of conjugate horizontal eye movements and accompanied by progressive scoliosis developing in childhood and adolescence. It occurs due to mutation in ROBO 3 gene/chromosome 11q23-q25. We report a case of a 60-year-old lady who presented with complaints of defective vision in both eyes. On examination, she had scoliosis with restricted abduction and adduction in both eyes with intact elevation and depression...
July 2017: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/29075763/ocular-torsion-according-to-trochlear-nerve-absence-in-unilateral-superior-oblique-palsy
#14
Ji Eun Lee, Hee Kyung Yang, Jae Hyoung Kim, Jeong-Min Hwang
Purpose: To investigate the relationship between objective ocular torsion and the presence or absence of the trochlear nerve in subjects with unilateral superior oblique palsy (SOP). Methods: A total of 159 subjects with congenital and acquired unilateral SOP were reviewed. Eighty-four subjects who had a normal trochlear nerve (present group) and 75 subjects without a trochlear nerve (absent group) were included. Cyclovertical motility parameters and objective ocular torsion were compared between groups, and factors related to ocular torsion were evaluated...
October 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29062251/a-congenital-cranial-dysinnervation-disorder-m%C3%A3-bius-syndrome
#15
Hatice Mutlu Albayrak, Nuriye Tarakçı, Hüseyin Altunhan, Rahmi Örs, Hüseyin Çaksen
Möbius' syndrome, also known as Möbius' sequence, is a nonprogressive cranial dysinnervation disorder characterized by congenital facial and abducens nerve paralysis. Here, we report a 5-day-old girl who was conceived after in vitro fertilization with poor suck and facial paralysis. She had bilaterally ptosis and lateral gaze limitation, left-sided deviation of the tongue, dysmorphic face, hypoplastic fingers and finger nails on the left hand, and was diagnosed as having Möbius' syndrome. Involvement of other cranial nerves such as three, four, five, nine, 9 and 12, and limb malformations may accompany this syndrome...
September 2017: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/29017984/superficial-siderosis-associated-with-a-pineal-cavernous-malformation
#16
Takafumi Ogura, Atsushi Kambe, Makoto Sakamoto, Yuki Shinohara, Toshihide Ogawa, Masamichi Kurosaki
BACKGROUND: Cavernous malformations in the pineal region are very rare and are difficult to anticipate from preoperative evaluation in patients with pineal apoplexy. We herein report the first case of a pineal cavernous malformation with superficial siderosis. Radiological findings were helpful in identifying the presence of the cavernous malformation. CASE DESCRIPTION: A 47-year-old female presented with a 4-month history of progressive headache, nausea, and dizziness...
October 7, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29017677/artery-of-percheron-infarct-ararity-not-to-be-missed
#17
Farheen Niazi, Sameen Bin Naeem
Artery of Percheron (AOP) is a rare vascular variant of posterior cerebral circulation and it supplies blood to the bilateral paramedian thalami and the rostral midbrain. Artery of Percheron infarct requires a comprehensive clinical and radiological examination. It can be easily overlooked due to normal CTfindings and wide range of differential diagnosis. Classic triad of presentation is altered mental status, memory impairment and the vertical gaze palsy. We report a case of a 66-year female who had sudden onset of severe vertigo, diplopia and ataxia...
September 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28984777/anti-ma2-associated-limbic-encephalitis-with-coexisting-chronic-inflammatory-demyelinating-polyneuropathy-in-a-patient-with-non-hodgkin-lymphoma-a-case-report
#18
Weina Ju, Baochang Qi, Xu Wang, Yu Yang
RATIONALE: We report the rare case of a 74-year-old man with anti-Ma2-associated paraneoplastic neurologic syndrome (PNS), and review and analyze the clinical manifestations, diagnosis, and treatment of the disease. PATIENT CONCERNS: The patient presented with a 5-month history of muscle weakness, progressive body aches, and weakness and numbness in both lower extremities. Before his hospitalization, he had experienced cognitive function decline; ptosis, inward gaze, and vertical gaze palsy in the right eye; and occasional visual hallucinations...
October 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28972116/teaching-video-neuroimages-palsy-of-conjugate-horizontal-gaze-and-face-due-to-isolated-abducens-nuclear-infarction
#19
Ji-Soo Kim, Seong-Hae Jeong, Jeong-Yoon Choi, Hyo-Jung Kim
No abstract text is available yet for this article.
October 3, 2017: Neurology
https://www.readbyqxmd.com/read/28878733/clinical-approach-to-supranuclear-brainstem-saccadic-gaze-palsies
#20
REVIEW
Alexandra Lloyd-Smith Sequeira, John-Ross Rizzo, Janet C Rucker
Failure of brainstem supranuclear centers for saccadic eye movements results in the clinical presence of a brainstem-mediated supranuclear saccadic gaze palsy (SGP), which is manifested as slowing of saccades with or without range of motion limitation of eye movements and as loss of quick phases of optokinetic nystagmus. Limitation in the range of motion of eye movements is typically worse with saccades than with smooth pursuit and is overcome with vestibular-ocular reflexive eye movements. The differential diagnosis of SGPs is broad, although acute-onset SGP is most often from brainstem infarction and chronic vertical SGP is most commonly caused by the neurodegenerative condition progressive supranuclear palsy...
2017: Frontiers in Neurology
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