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cranial nervs syndromes

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https://www.readbyqxmd.com/read/28302242/vanishing-white-matter-vwm-disease-presenting-as-neuro-ovarian-failure
#1
Abidullah Khan, Mohammad Humayun, Maimoona Ayub, Iqbal Haider, Fahad Ajmal, Syed Saad Shah
A 19-year girl was admitted with a one-month history of worsening spastic paraparesis, cerbellar ataxia, visual decline and worsening headaches on a background of walking difficulty, progressive quadriparesis and migraine since the age of 10 years. She had no sensory loss, and cranial nerves examination was notable for optic atrophy with crescent formation only. She had primary amenorrhea and underdeveloped secondary sexual characteristics. Ultrasonograhic studies of the pelvis confirmed small ovaries, and uterus...
March 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28299356/an-exome-sequencing-study-of-moebius-syndrome-including-atypical-cases-reveals-an-individual-with-cfeom3a-and-a-tubb3-mutation
#2
Ronak M Patel, David Liu, Claudia Gonzaga-Jauregui, Shalini Jhangiani, James T Lu, V Reid Sutton, Susan D Fernbach, Mahshid Azamian, Lisa White, Jane C Edmond, Evelyn A Paysse, John W Belmont, Donna Muzny, James R Lupski, Richard A Gibbs, Richard Alan Lewis, Brendan H Lee, Seema R Lalani, Philippe M Campeau
Moebius syndrome is characterized by congenital unilateral or bilateral facial and abducens nerve palsies (sixth and seventh cranial nerves) causing facial weakness, feeding difficulties, and restricted ocular movements. Abnormalities of the chest wall such as Poland anomaly and variable limb defects are frequently associated with this syndrome. Most cases are isolated; however, rare families with autosomal dominant transmission with incomplete penetrance and variable expressivity have been described. The genetic basis of this condition remains unknown...
March 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28293537/a-rare-case-of-concomitant-sicca-keratopathy-and-ipsilateral-central-facial-palsy-in-wallenberg-s-dorsolateral-medullary-syndrome
#3
Deborah De Bruyn, Elisabeth Van Aken, Kristien Herman
Objective: To describe a patient with a right-sided supranuclear facial palsy and concomitant sicca keratopathy of the right eye following right-sided dorsolateral medullary infarction. Methods: Our patient underwent a complete ophthalmologic and neurologic examination including biomicroscopy, fundus examination, cranial nerve examination, Shirmer I test, and magnetic resonance imaging of the brain. Results: A 61-year-old woman presented in emergency with a central facial nerve palsy on the right side and truncal ataxia...
2017: GMS Ophthalmology Cases
https://www.readbyqxmd.com/read/28272727/-an-unusual-presentation-of-painful-tic-convulsive
#4
S Romano-Feinholz, M P Medina, F E Nares-Lopez, J L Soto-Hernandez, R Revuelta-Gutierrez
INTRODUCTION: The term 'painful tic convulsive' is used to describe the syndrome involving concomitant hemifacial spasm and ipsilateral trigeminal neuralgia. Vascular compression of the fifth and seventh cranial nerves is the most common cause, involving the entry and exit zone of rootlets coming from the brainstem; nevertheless, different etiologies of this syndrome has been previously reported. Treatment for this disease is based on surgical microvascular decompression of the nerve rootlets, but still a topic of debate...
March 16, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28260625/cavernous-sinus-syndrome-a-prospective-study-of-73-cases-at-a-tertiary-care-centre-in-northern-india
#5
S Bhatkar, M K Goyal, A Takkar, K K Mukherjee, P Singh, R Singh, V Lal
OBJECTIVES: To study the clinical and etiological profile of patients with cavernous sinus syndrome (CSS) and identify factors which could determine the etiology and influence the outcome of these patients. PATIENTS AND METHODS: This prospective observational study included 73 consecutive patients satisfying the criteria of CSS (i.e. involvement of any 2 of the 3rd, 4th, 5th and 6th cranial nerves or any one of them with radiological evidence of cavernous sinus involvement)...
February 22, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28255284/clinical-evaluation-of-blepharoptosis-distinguishing-age-related-ptosis-from-masquerade-conditions
#6
REVIEW
Michelle W Latting, Alison B Huggins, Douglas P Marx, Joseph N Giacometti
Aponeurotic ptosis accounts for the majority of acquired ptosis encountered in clinical practice. Other types of ptosis include traumatic, mechanical, neurogenic, and myogenic. In addition to true ptosis, some patients present with pseudoptosis caused by globe dystopia, globe asymmetry, ocular misalignment, or retraction of the contralateral lid. It is particularly important for the clinician to rule out neurologic causes of ptosis such as dysfunction of the third cranial nerve, Horner's syndrome, and myasthenia gravis, as these conditions can be associated with significant systemic morbidity and mortality...
February 2017: Seminars in Plastic Surgery
https://www.readbyqxmd.com/read/28251330/oculo-auriculo-vertebral-spectrum-going-beyond-the-first-and-second-pharyngeal-arch-involvement
#7
Brotto Davide, Manara Renzo, Ghiselli Sara, Lovo Elisa, Mardari Rodica, Toldo Irene, Castiglione Alessandro, Schifano Giovanni, Stritoni Valentina, Bovo Roberto, Trevisi Patrizia, Martini Alessandro
INTRODUCTION: Intracranial vascular, bone, and brain abnormalities might be observed in oculo-auriculo-vertebral spectrum (OAVS) patients even though these structures do not derive embryologically from the first and second pharyngeal arches. This neuroimaging study investigated their type, frequency and phenotype correlations among OAVS patients. METHODS: Thirty-five OAVS patients (mean-age 4.8 ± 6.0 years; age range 0.3-30, 14 females) underwent head CT (all patients) and brain MRI (32 patients); 19 patients had a more severe phenotype (Goldenhar syndrome)...
March 1, 2017: Neuroradiology
https://www.readbyqxmd.com/read/28214063/multiple-cranial-nerve-neuropathies-ataxia-and-areflexia-miller-fisher-syndrome-in-a-child-and-review
#8
Antonio E Muñiz
No abstract text is available yet for this article.
July 25, 2016: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28211985/a-girl-with-developmental-delay-ataxia-cranial-nerve-palsies-severe-respiratory-problems-in-infancy-expanding-ndst1-syndrome
#9
Linlea Armstrong, Maja Tarailo-Graovac, Graham Sinclair, Kimberly I Seath, Wyeth W Wasserman, Colin J Ross, Clara D M van Karnebeek
NDST1 encodes an enzyme involved in the first steps in the synthesis of heparan sulfate chains, proteoglycans that are regulators found on the cell surface and in the extracellular matrix. Eight individuals homozygous for one of four family-specific missense mutations in the sulfotransferase domain of the enzyme have been described. They have intellectual disability. Some additionally had hypotonia, ataxia. seizures, and/or short stature, but none had history of respiratory problems. No humans with homozygous null mutations are known...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28210639/an-interesting-case-of-tolosa-hunt-syndrome-in-a-young-male
#10
Ghulam Murtaza, Nicholas Konowitz, Hannah Lu, Anadil Faqah, Aneesh Kuruvilla
Tolosa-Hunt syndrome is a rare disease with a limited number of cases reported in the literature. It typically presents with orbital pain associated with palsy of the third, fourth, or sixth cranial nerve. We present an interesting case of Tolosa-Hunt syndrome in a young male who responded well to high-dose steroids and in a few days had significant improvement in his retro-orbital pain and ocular movements.
January 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28209311/mri-findings-of-optic-pathway-involvement-in-miller-fisher-syndrome-in-3-pediatric-patients-and-a-review-of-the-literature
#11
Ajay Malhotra, Mia Zhang, Xiao Wu, Shanu Jindal, David Durand, Naila Makhani
BACKGROUND: Miller Fisher syndrome (MFS) is a rare demyelinating condition which may have involvement of cranial nerves. There are a few case reports of optic pathway involvement in children. We describe 3 patients with optic pathway enhancement in pediatric patients with MFS. CASE SERIES: We retrospectively reviewed brain imaging findings in 17 pediatric patients with of Guillain-Barré syndrome (GBS) meeting Brighton criteria who had brain MRIs performed during their acute illness...
February 10, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28202828/-diagnosis-of-cochleovestibular-neurovascular-compression-syndrome-a-scoring-system-based-on-five-clinical-characteristics
#12
Tomomi Okamura, Takafumi Nishizaki, Norio Ikeda, Shigeki Nakano, Takanori Sakakura, Natsumi Fujii, Takeshi Okuda
The optimal method for diagnosing cochleovestibular neurovascular compression syndrome(CNVC)remains controversial, and the aim of this study is to develop a standard diagnostic instrument for the condition. The clinical features of 53 sides of 50 patients with a combination of vertigo, tinnitus, and/or hearing loss were retrospectively evaluated. The following five clinical features were evaluated and given a score of 1 or 0:1)a long history of recurrent vertigo, tinnitus, or hearing loss;2)neurological findings related to positional vertigo, nystagmus, tinnitus, or hearing loss;3)neuro-otological findings involving tinnitus, audiometry, or vestibular testing;4)auditory brainstem response(ABR)evaluation with the detection of a low 25-75% II wave amplitude on the contralateral side and delayed interpeak latency in the I-III or I-V waves(usually low II wave amplitude combined with double peaks and a wide-based form)during ABR evaluation using 80 and 90dB clicks;and 5)the detection of vascular contact with the eighth cranial nerve on magnetic resonance imaging-constructive interference in steady state or air computed tomography imaging...
February 2017: No Shinkei Geka. Neurological Surgery
https://www.readbyqxmd.com/read/28193110/pontine-tegmental-cap-dysplasia-in-an-extremely-preterm-infant-and-review-of-the-literature
#13
Sylvie Picker-Minh, Sebastian Hartenstein, Hans Proquitté, Sebastian Fröhler, Vera Raile, Nadine Kraemer, Sarah Apeshiotis, Michael Leipoldt, Karim D Kalache, Deborah Morris-Rosendahl, Eugen Boltshauser, Wei Chen, Angela M Kaindl
Pontine tegmental cap dysplasia is a rare hindbrain malformation syndrome with a hypoplastic pons, a tissue protrusion into the fourth ventricle, and cranial nerve dysfunction. We here report clinical, imaging, and genetic findings of the first extremely low-birth-weight preterm infant with pontine tegmental cap dysplasia born at 25 weeks of gestation and provide an overview of 29 sporadic cases. A prenatally diagnosed hypoplastic and rostrally shifted cerebellum was indicative of a hindbrain defect and later identified as an early sign of pontine tegmental cap dysplasia in our patient...
March 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28190436/neurologic-complications-of-cardiac-and-vascular-surgery
#14
K N Sheth, E Nourollahzadeh
This chapter will provide an overview of the major neurologic complications of common cardiac and vascular surgeries, such as coronary artery bypass grafting and carotid endarterectomy. Neurologic complications after cardiac and vascular surgeries can cause significant morbidity and mortality, which can negate the beneficial effects of the intervention. Some of the complications to be discussed include ischemic and hemorrhagic stroke, seizures, delirium, cognitive dysfunction, cerebral hyperperfusion syndrome, cranial nerve injuries, and peripheral neuropathies...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28163843/outcome-of-guillain-barr%C3%A3-syndrome-in-children-a-prospective-cohort-study-in-a-tertiary-hospital-in-upper-egypt
#15
Abdelrahim Abdrabou Sadek, Ashraf Abou-Taleb, Wafaa Ahmed Ali
INTRODUCTION: Guillain-Barré syndrome is the most common cause of acute flaccid paralysis in children, and defined as an acute inflammatory polyneuropathy. The objective of this study was to assess the clinico-laboratory profile, and outcome of Guillain-Barré syndrome in children at Sohag University Hospital. METHODS: This prospective cohort observational study was conducted in 2014-2015. The included children were subjected to through medical history and detailed systemic and neurological examination...
December 2016: Electronic Physician
https://www.readbyqxmd.com/read/28155231/charge-syndrome-gastrointestinal-involvement-from-mouth-to-anus
#16
REVIEW
A Hudson, M Macdonald, J N Friedman, K Blake
CHARGE syndrome is an autosomal dominant disorder that occurs as a result of a heterozygous loss-of-function mutation in the chromodomain helicase DNA-binding (CHD7) gene, which is important for neural crest cell formation. Gastrointestinal (GI) symptoms and feeding difficulties are highly prevalent but are often a neglected area of diagnosis, treatment, and research. Cranial nerve dysfunction, craniofacial abnormalities, and other physical manifestations of this syndrome lead to gut dysmotility, sensory impairment, and oral-motor function abnormalities...
October 13, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/28139293/clinical-biopsy-and-mass-spectrometry-findings-of-renal-gelsolin-amyloidosis
#17
Sanjeev Sethi, Surendra Dasari, Md Shahrier Amin, Julie A Vrana, Jason D Theis, Mariam P Alexander, Paul J Kurtin
Gelsolin amyloidosis is a rare type of amyloidosis typically involving the cranial and peripheral nerves, but rarely the kidney. Here we report the clinical, kidney biopsy, and mass spectrometry findings in 12 cases of renal gelsolin amyloidosis. Of the 12 patients, five were men and seven were women with mean age at diagnosis of 63.8 years. Gelsolin amyloidosis was most common in Caucasians (six patients) and Asians (four patients), and included one each African-American and Hispanic patients. Nephrotic syndrome was the most common cause of biopsy, although most patients also had progressive loss of kidney function...
January 27, 2017: Kidney International
https://www.readbyqxmd.com/read/28137957/loss-of-function-mutations-in-the-atp13a2-park9-gene-cause-complicated-hereditary-spastic-paraplegia-spg78
#18
Alejandro Estrada-Cuzcano, Shaun Martin, Teodora Chamova, Matthis Synofzik, Dagmar Timmann, Tine Holemans, Albena Andreeva, Jennifer Reichbauer, Riet De Rycke, Dae-In Chang, Sarah van Veen, Jean Samuel, Ludger Schöls, Thorsten Pöppel, Danny Mollerup Sørensen, Bob Asselbergh, Christine Klein, Stephan Zuchner, Albena Jordanova, Peter Vangheluwe, Ivailo Tournev, Rebecca Schüle
Hereditary spastic paraplegias are heterogeneous neurodegenerative disorders characterized by progressive spasticity of the lower limbs due to degeneration of the corticospinal motor neurons. In a Bulgarian family with three siblings affected by complicated hereditary spastic paraplegia, we performed whole exome sequencing and homozygosity mapping and identified a homozygous p.Thr512Ile (c.1535C > T) mutation in ATP13A2. Molecular defects in this gene have been causally associated with Kufor-Rakeb syndrome (#606693), an autosomal recessive form of juvenile-onset parkinsonism, and neuronal ceroid lipofuscinosis (#606693), a neurodegenerative disorder characterized by the intracellular accumulation of autofluorescent lipopigments...
February 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28137897/blood-brain-and-binocular-vision
#19
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/28128429/-neurofibromatosis-type-2-in-childhood-a-clinical-characterization
#20
C M Hinojosa-Mateo, J A Reche-Sainz, A Hernandez-Nunez, M Ramos-Lopez, A Arpa-Fernandez, D Natera-de Benito
INTRODUCTION: Neurofibromatosis type 2 (NF2) is a dominantly inherited neuroectodermal syndrome that predispose to the development of tumors of the central and peripheral nervous system. Additional features include eye and skin abnormalities. CASE REPORT: A 12-year old male with diagnosis of MF2 according to Baser et al and presentation in childhood was included. A comprehensive bibliographic review of evolution of the diagnostic criteria for NF2 in children was performed...
February 1, 2017: Revista de Neurologia
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