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cranial nervs syndromes

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https://www.readbyqxmd.com/read/28214063/multiple-cranial-nerve-neuropathies-ataxia-and-areflexia-miller-fisher-syndrome-in-a-child-and-review
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/28127130/endovascular-therapy-using-flow-diversion-for-giant-internal-carotid-artery-pseudoaneurysm-arising-in-the-setting-of-an-invasive-pituitary-macroadenoma
#14
Amin F Saad, Almas Syed, Keyan B Marashi, Brian D O'Rourke, Joseph H Hise, Michael J Opatowsky, Kennith F Layton
This report illustrates the unusual occurrence of a pseudoaneurysm arising in the setting of a skull base mass and describes the first reported use of endovascular flow diversion therapy in such a setting. A 63-year-old man with occasional headaches during the preceding month presented with the acute onset of severe left retroorbital headache and oculomotor nerve palsy. Computed tomography (CT) and CT angiogram revealed a destructive skull base mass with an associated giant probable pseudoaneurysm of the cavernous segment of the left internal carotid artery...
January 2017: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/28109263/common-and-uncommon-neurological-manifestations-of-neuroborreliosis-leading-to-hospitalization
#15
Philipp Schwenkenbecher, Refik Pul, Ulrich Wurster, Josef Conzen, Kaweh Pars, Hans Hartmann, Kurt-Wolfram Sühs, Ludwig Sedlacek, Martin Stangel, Corinna Trebst, Thomas Skripuletz
BACKGROUND: Neuroborreliosis represents a relevant infectious disease and can cause a variety of neurological manifestations. Different stages and syndromes are described and atypical symptoms can result in diagnostic delay or misdiagnosis. The aim of this retrospective study was to define the pivotal neurological deficits in patients with neuroborreliosis that were the reason for admission in a hospital. METHODS: We retrospectively evaluated data of patients with neuroborreliosis...
January 21, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28099131/turner-syndrome-and-pituitary-adenomas-a-case-report-and-review-of-literature
#16
Tiffany Yeh, Angela Ganan Soto, Jose Bernardo Quintos, Lisa Swartz Topor
BACKGROUND: Turner syndrome (TS) is the most common sex chromosome abnormality in females, typically associated with primary amenorrhea and premature ovarian failure due to gonadal dysgenesis. The association of TS with hypopituitarism is an uncommon finding. The objective of the study was to describe an adolescent with TS with hypergonadotropic hypogonadism and subsequent hypogonadotropic hypogonadism. CASE PRESENTATION: A 16-year-old female with primary amenorrhea was diagnosed with TS based on karyotype 45,XO...
February 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28097083/recurrent-squamous-cell-carcinoma-of-the-eyelid-presenting-as-trigeminal-neuralgia
#17
Nicole Spitzer, Naazli Shaikh, Leah Strickland, Son Ho
This paper describes two patients with squamous cell carcinoma (SCC) of the periocular and periorbital skin who presented with trigeminal neuralgia. Both patients had previous cutaneous SCC of the scalp treated successfully with surgical resection but later presented with neuro-ophthalmic findings suggesting perineural invasion (PNI) of SCC. PNI of SCC in the periocular skin or orbit can lead to devastating effects if malignant cells seed into the orbit and adjacent cranial nerves as our two patients developed an orbital apex syndrome...
December 16, 2016: Curēus
https://www.readbyqxmd.com/read/28064284/surgery-modified-pi-with-triple-bonnet-flap-and-fronto-orbital-advancement
#18
Uday Singh Raswan, Sarbjit Singh Chhiber, Altaf Umar Ramzan
INTRODUCTION: Craniosynostosis is the premature fusion of one or more of the cranial sutures and can occur as part of a syndrome or as an isolated defect. Pansynostosis is a rare form of craniosynostosis that involves premature fusion of all the cranial sutures (coronal, sagittal, metopic, and occipital). Particularly in cases of late presentation, there are heightened clinical concerns, both functional and aesthetic. In untreated cases of pansynostosis and increased intracranial pressure, optic nerve damage progresses to optic atrophy and then blindness...
January 7, 2017: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28062188/a-comprehensive-analysis-and-immunobiology-of-autoimmune-neurological-syndromes-during-the-zika-virus-outbreak-in-c%C3%A3%C2%BAcuta-colombia
#19
Juan-Manuel Anaya, Yhojan Rodríguez, Diana M Monsalve, Daniel Vega, Ernesto Ojeda, Diana González-Bravo, Mónica Rodríguez-Jiménez, Carlos A Pinto-Díaz, Pablo Chaparro, María L Gunturiz, Aftab A Ansari, M Eric Gershwin, Nicolás Molano-González, Carolina Ramírez-Santana, Yeny Acosta-Ampudia
We have focused on the epidemiology and immunobiology of Zika virus (ZIKV) infection and factors associated with the development of Guillain-Barré syndrome (GBS) and other neurological syndromes in Cúcuta, the capital of North Santander department, Colombia. Data of patients with ZIKV disease reported to the national population-based surveillance system were used to calculate the basic reproduction number (R0) and the attack rates (ARs) as well as to develop epidemiological maps. Patients with neurological syndromes were contacted and their diagnoses were confirmed...
February 2017: Journal of Autoimmunity
https://www.readbyqxmd.com/read/28032327/emerging-zika-virus-infection-a-rapidly-evolving-situation
#20
Bordi Licia, Avsic-Zupanc Tatjana, Lalle Eleonora, Vairo Francesco, Capobianchi Maria Rosaria, Pedro Fernando da Costa Vasconcelos
Zika virus is a mosquito-borne flavivirus, firstly identified in Uganda and responsible for sporadic human cases in Africa and Asia until recently, when large outbreak occurred in Pacific Ocean and the Americas. Since the main vectors during its spread outside of Africa have been Ae. albopictus and Ae. aegypti mosquitoes, which are widely distributed all over the world, there is urgent need for a coordinated response for prevention and spread of ZIKV epidemics.Despite clinical manifestation of Zika virus infection are usually mild and self limiting, there are reports suggesting, during the recent epidemic, an association of ZIKV infection with severe consequences, including fetal/newborn microcephaly, due to vertical in utero transmission, autoimmune-neurological presentations including cranial nerve dysfunction, and Guillain-Barré Syndrome in adults...
December 29, 2016: Advances in Experimental Medicine and Biology
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