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https://www.readbyqxmd.com/read/28196268/three-cases-of-exotropic-moebius-syndrome
#1
Abbas Bagheri, Mohaddese Feizi
Moebius syndrome is characterized by congenital facial palsy and limitation in horizontal gaze. The surgical results of the exotropic pattern are rare and have not been published before. The authors report three cases of exotropic Moebius syndrome. Maximal weakening of the lateral rectus muscles followed by strengthening of the medial recti in exotropic Moebius syndrome can improve exotropia significantly. Most of these cases also need some measures to relieve the often associated severe dry eye. [J Pediatr Ophthalmol Strabismus...
February 14, 2017: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28149099/bilateral-ptosis-without-upward-gaze-palsy-unusual-presentation-of-midbrain-tuberculoma
#2
Shatanik Sarkar, Chaitali Patra, Malay Kumar Dasgupta
Central nervous system tuberculoma can have variable presentations depending on the site and number of tuberculomas. We are reporting a rare case of an 11-year-old male child presenting with ptosis and ataxia. Clinical examination revealed bilateral partial 3(rd) cranial nerve palsy (ptosis without any upward gaze palsy) associated with dysdiadochokinesia and ataxia on the right side. Magnetic resonance imaging of the brain revealed a single ring-enhancing lesion in the dorsal midbrain with perifocal edema...
January 2017: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28137897/blood-brain-and-binocular-vision
#3
Egle Rostron, Mary Polly Dickerson, Gregory Heath
A man aged 51 years presented with sudden onset, horizontal, binocular, double vision and right facial weakness. Ocular motility examination demonstrated a right horizontal gaze palsy pattern in keeping with a one-and-a-half syndrome. Since this was associated with a concomitant, ipsilateral, lower motor neuron (LMN) facial (VIIth) cranial nerve palsy, he had acquired an eight-and-a-half syndrome. Diffusion-weighted MRI confirmed a small infarcted area in the pons of the brainstem which correlated with anatomical location of the horizontal gaze centre and VIIth cranial nerve fasciculus...
January 30, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28132975/a-case-of-neuromyelitis-optica-spectrum-disorder-nmosd-with-sj%C3%A3-gren-s-syndrome-manifested-only-brain-involvement-by-preceding-parotitis
#4
Takahiro Furukawa, Naoko Matsui, Keiko Tanaka, Yuishin Izumi, Ryuji Kaji
A 33 year-old woman presented with intentional incontinence, motor aphasia, supranuclear gaze palsy, and spasticity after parotitis. Brain magnetic resonance images (MRI) showed abnormal signaling in long corticospinal tract involving internal capsules and cerebral peduncles, middle cerebellar peduncle, and frontal subcortical white matter lesions. She had a long history of dry eye and mouth. Immunoserological study showed that she was positive for anti-SS-A, aquaporin 4 (AQP4), and AQP5 antibodies. She clinically showed not only Sjögren's syndrome but also neuromyelitis optica spectrum disorder (NMOSD) without optic neuritis or myelitis...
January 28, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28092393/surgical-treatment-of-adult-onset-esotropia-characteristics-and-outcomes
#5
Sara F Grace, Kara M Cavuoto, Wei Shi, Hilda Capo
PURPOSE: To describe the characteristics of the strabismus, surgical management, and outcomes of patients who underwent surgery for adult-onset esotropia. METHODS: This was a retrospective case study of patients at an academic tertiary referral center who underwent surgical treatment of esotropia acquired at or after age 18 years. Primary outcome measures were resolution of diplopia in primary position and a deviation of 10 prism diopters or less in primary gaze...
January 13, 2017: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28057431/advanced-structural-neuroimaging-in-progressive-supranuclear-palsy-where-do-we-stand
#6
REVIEW
Albert Stezin, Abhishek Lenka, Ketan Jhunjhunwala, Jitender Saini, Pramod K Pal
Progressive supranuclear palsy (PSP) is a progressive neurological disorder characterized by presence of supranuclear gaze palsy, early postural instability, parkinsonism and cognitive impairment. Advanced structural neuroimaging studies have demonstrated variable areas of grey and white matter involvement in PSP. Grey matter (GM) involvement is predominantly reported in the midbrain, subcortical structures such as thalamus and basal ganglia, and cerebellum. Most white matter (WM) tracts are also reported to be damaged in PSP...
December 26, 2016: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28043958/fluctuating-drowsiness-following-cardiac-catheterisation-artery-of-percheron-ischaemic-stroke-causing-bilateral-thalamic-infarcts
#7
Daniel Hammersley, Ankur Arora, Madhava Dissanayake, Nabarun Sengupta
An 81-year-old man underwent cardiac catheterisation to investigate breathlessness and left ventricular impairment of unknown cause. He had unobstructed coronary arteries. Immediately following the procedure, he became suddenly unresponsive with vertical gaze palsy, anisocoria and bilateral upgoing plantar responses. He made a rapid recovery to his premorbid state 25 min later with no residual focal neurological signs. He then had multiple unresponsive episodes, interspaced with complete resolution of symptoms and neurological signs...
January 2, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28024310/horizontal-gaze-palsy-in-two-brothers-with-compound-heterozygous-robo3-gene-mutations
#8
Annette Hackenberg, Eugen Boltshauser, Christina Gerth-Kahlert, Nikolai Stahr, Silvia Azzarello-Burri, Barbara Plecko
No abstract text is available yet for this article.
February 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28003644/norrbottnian-clinical-variant-of-gaucher-disease-in-southern-italy
#9
Simona Sestito, Mirella Filocamo, Ferdinando Ceravolo, Francesca Falvo, Michele Grisolia, Maria Teresa Moricca, Renato Cantaffa, Serena Grossi, Pietro Strisciuglio, Daniela Concolino
The Norrbottnian type of Gaucher disease (GD), as described many years ago, is due to a unique neuronopathic variant (c.1448T>G; L444P) that may have appeared during or before the sixteenth century in northern Sweden. It is a well-defined nosological entity with a characteristic course of clinical manifestations. In particular, Norrbottnian patients described in Sweden and Poland seem to share identical clinical histories characterized by the early onset of significant hepatosplenomegaly, often requiring splenectomy at an early age...
December 22, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27974341/vertical-muscle-transposition-with-silicone-band-belting-in-vi-nerve-palsy
#10
Ricardo Dourado Leite, Cristina Freitas, Sandra Guimaraes
A woman aged 60 years developed a Millard-Gubler syndrome after a diagnosis of a cavernous angioma in the median and paramedian areas of the pons. In this context, she presented a right VI nerve palsy, right conjugate gaze palsy, facial palsy and left hemiparesis. To improve the complete VI nerve palsy, we planned a modified transposition approach, in which procedure we made a partial transposition of vertical rectus with a silicone band that was fixated posteriorly. After the procedure, the patient gained the ability to slightly abduct the right eye...
December 14, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27928380/facial-dystonia-with-facial-grimacing-and-vertical-gaze-palsy-with-round-the-houses-sign-in-a-29-year-old-woman
#11
J Crespi, G Bråthen, P Quist-Paulsen, J Pagonabarraga, C Roig-Arnall
A 29-year-old woman developed progressive dysarthria and coordination problems from the age of 15. Examination showed dysarthria, facial dystonia, bibrachial dystonia, hyperreflexia, ataxia, and emotional incontinence. Downward supranuclear gaze palsy was prominent with a "Round the Houses" sign. Magnetic resonance imaging of the brain and medulla, electroneurography, and cerebrospinal fluid were normal. A computed tomography scan showed hepatosplenomegaly. This combination of progressive neurological symptoms together with hepatosplenomegaly was suggestive of inborn error of metabolism...
February 2016: Neuro-ophthalmology
https://www.readbyqxmd.com/read/27927777/internuclear-ophthalmoplegia
#12
Jonathan D Virgo, Gordon T Plant
A brainstem lesion of any type that involves the medial longitudinal fasciculus (MLF) can cause internuclear ophthalmoplegia (INO). This primarily affects conjugate horizontal gaze and classically manifests as impaired adduction ipsilateral to the lesion and abduction nystagmus contralateral to the lesion. Here, we describe the anatomy of the MLF and review the clinical features of INO. We also describe conjugate horizontal gaze palsy and some of the 'INO-plus' syndromes.
December 7, 2016: Practical Neurology
https://www.readbyqxmd.com/read/27921204/a-case-of-double-depressor-palsy-followed-by-pursuit-deficit-due-to-sequential-infarction-in-bilateral-thalamus-and-right-medial-superior-temporal-area
#13
Su Jin Kim, Myeong In Yeom, Seung Uk Lee
BACKGROUND: We present a unique case of a patient who suffered two rare events affecting the supranuclear control, first of the vertical and second of the horizontal eye movements. The first event involved bilateral thalamic infarcts that resulted in double depressor palsy. The second event occurred 1 year later and it involved supranuclear control of horizontal eye movements creating pursuit deficit. CASE PRESENTATION: A 47-year-old male presented with complaints of diplopia upon awakening...
December 5, 2016: International Ophthalmology
https://www.readbyqxmd.com/read/27915581/ftld-tdp-and-progressive-supranuclear-palsy-in-comorbidity-a-report-of-two-cases-with-different-clinical-presentations
#14
Kateřina Storey, Silvie Johanidesová, Radoslav Matěj, Jiří Keller, Zdeněk Rohan, Robert Rusina
Frontotemporal lobar degeneration with transactive response DNA-binding protein 43 (FTLD-TDP) and progressive supranuclear palsy (PSP) are distinct neurodegenerations with different clinical presentations. We report two cases with FTLD-TDP and PSP in comorbidity: a patient with amnestic dementia developing frontal lobe dementia, Parkinsonism and supranuclear gaze palsy and a patient with cerebellar ataxia and nystagmus developing akinesia, rigidity, and subcortical dementia. Neuropathological examination revealed neuronal and glial tau pathology together with ubiquitin, and phospho-TDP-43-immunoreactivities in the hippocampus, striatum, mesencephalon, and frontal and temporal cortices...
December 3, 2016: Neurocase
https://www.readbyqxmd.com/read/27842578/an-autopsy-confirmed-case-of-progressive-supranuclear-palsy-with-predominant-postural-instability
#15
Carolin Kurz, Georg Ebersbach, Gesine Respondek, Armin Giese, Thomas Arzberger, Günter Ulrich Höglinger
Postural instability and supranuclear gaze palsy represent the key symptoms of Richardson's syndrome, the most frequent clinical manifestation of progressive supranuclear palsy (PSP). However, a proportion of PSP patients never develops ocular motor symptoms, which prevents clinicians from establishing the diagnosis during lifetime according to current diagnostic criteria. We present one instructive autopsy-confirmed PSP case with prospective video-documented clinical course, showing striking temporal divergence of initially present postural instability and delayed development of ocular motor dysfunction...
November 14, 2016: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/27818813/familial-hemiplegic-migraine-with-severe-attacks-a-new-report-with-atp1a2-mutation
#16
E Martínez, R Moreno, L López-Mesonero, I Vidriales, M Ruiz, A L Guerrero, J J Tellería
Introduction. Familial hemiplegic migraine (FHM) is a rare disorder characterized by migraine attacks with motor weakness during the aura phase. Mutations in CACNA1A, ATP1A2, SCN1A, and PRRT2 genes have been described. Methods. To describe a mutation in ATP1A2 gene in a FHM case with especially severe and prolonged symptomatology. Results. 22-year-old woman was admitted due to migraine-type headache and sudden onset of right-sided weakness and aphasia; she had similar episodes in her childhood. Her mother was diagnosed with hemiplegic migraine without genetic confirmation...
2016: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/27801772/cranial-nerve-vi-palsy-as-the-main-clinical-manifestation-of-neurosarcoidosis
#17
Zaid A Al-Qudah, Hussam A Yacoub, Nizar Souayah
INTRODUCTION: Sarcoidosis is a chronic, systemic, inflammatory disorder that is characterized by the formation of noncaseating granulomas. Patients may present with cranial nerve palsy, paresthesia, paresis, pyramidal signs, progressive cognitive decline, urinary retention, seizures, or hypothalamic-pituitary syndrome. Although the diagnosis of neurosarcoidosis can be challenging, neurological manifestations of sarcoidosis occur more frequently than previously described. CASE REPORT: A 23-year-old African American man presented to our emergency department with diplopia, which was worsened on left horizontal gaze...
November 2016: Neurologist
https://www.readbyqxmd.com/read/27778456/parinaud-syndrome-a-25-year-1991-2016-review-of-40-consecutive-adult-cases
#18
Melissa Shields, Swati Sinkar, WengOnn Chan, John Crompton
PURPOSE: To characterize the clinical features, aetiology and management of ophthalmic symptoms in adult patients with Parinaud syndrome. METHODS: This is a retrospective, non-comparative observational case series. We reviewed 40 consecutive charts of adult patients with the clinical diagnosis of Parinaud syndrome at the Royal Adelaide Hospital Department of Ophthalmology in Adelaide, South Australia, between 1991 and 2016. Charts were reviewed for the following: (1) demographic information, (2) clinical presentation, (3) neuro-ophthalmology signs, (4) aetiology of Parinaud syndrome, and (5) management...
October 24, 2016: Acta Ophthalmologica
https://www.readbyqxmd.com/read/27749773/horizontal-gaze-palsy-and-progressive-scoliosis-with-robo-3-mutations-in-patients-from-cape-verde
#19
Nadine B P S Mendes Marques, Sandra R Barros, Ana F Miranda, João Nobre Cardoso, Sónia Parreira, Teresa Fonseca, Nelvia M Donaire, Nuno Campos
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare and autosomal recessive syndrome. We describe 2 cases of HGPPS which are the first documented in patients of African ancestry from an isolated population in Cape Verde. They demonstrated typical findings on neuro-ophthalmic examination and brain magnetic resonance imaging. One patient had novel heterozymous mutations of the ROB0 3 gene.
October 3, 2016: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/27738402/a-pediatric-case-of-pituitary-macroadenoma-presenting-with-pituitary-apoplexy-and-cranial-nerve-involvement-case-report
#20
Mustafa Özçetin, Mehmet Karacı, Ertuğ Toroslu, Nurullah Edebali
Pituitary adenomas usually arise from the anterior lobe of the pituitary gland and are manifested with hormonal disorders or mass effect. Mass effect usually occurs in nonfunctional tumors. Pituitary adenomas may be manifested with visual field defects or rarely in the form of total oculomotor palsy. Visual field defect is most frequently in the form of bitemporal hemianopsia and superior temporal defect. Sudden loss of vision, papilledema and ophthalmoplegia may be observed. Pituitary apoplexy is defined as an acute clinical syndrome characterized with headache, vomiting, loss of vision, ophthalmoplegia and clouding of consciousness...
September 2016: Türk Pediatri Arşivi
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