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case report in neurology

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https://www.readbyqxmd.com/read/28214763/emergency-valve-surgery-for-infective-endocarditis-complicated-by-acute-intracranial-hemorrhage-a-case-report
#1
Takasumi Goto, Toshihiro Ohata, Takayuki Shijo, Daisuke Yoshioka, Mitsunori Kaneko
INTRODUCTION: Optimal timing of surgical treatment for infective endocarditis (IE) complicated by intracranial hemorrhage remains controversial. PRESENTATION OF CASE: A 43-year-old man with IE received appropriate antibiotic therapy but had recurrence of cerebral infarction and intracranial hemorrhage (ICH). Emergency valve surgery was performed 2days after ICH onset because of heart failure and recurrence of cerebral complications. Postoperatively, he showed no neurologic symptoms; neuroimaging showed no enlargement of ICH...
February 11, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28214652/unilateral-oculomotor-palsy-in-charcot-marie-tooth-disease-1a-cmt-1a
#2
A Posa, A Emmer, M E Kornhuber
BACKGROUND: Charcot-Marie-Tooth disease (CMT) type 1A is the most common form of CMT 1 and one of the autosomal dominant demyelinating hereditary motor and sensory neuropathies (HMSN). Cranial nerves may be frequently subclinically affected in CMT disease. However manifest clinical signs of cranial nerve involvement are rare. METHODS: This case comprise neurological, ophthalmological, internal medicine and ear-nose-throat investigation, motor and sensory nerve conduction velocity, auditory evoked potentials and orbicularis-oculi reflex measurements, lumbar puncture and blood examination, inclusive molecular genetic testing, as well as electrocardiogram and cranial imaging such as computer tomography and magnetic resonance imaging RESULTS: The present case shows a Charcot-Marie-Tooth (CMT) 1A patient with complete unilateral oculomotor palsy in combination with predominant ipsilateral subclinical trigeminal demyelination...
February 13, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28214641/posterior-reversible-encephalopathy-syndrome-causing-vision-loss-following-endoscopic-endonasal-resection-of-pituitary-adenoma-a-case-report
#3
Nicolas W Villelli, Daniel M Prevedello, Daniel S Ikeda, Alaa S Montaser, Bradley A Otto, Ricardo L Carrau
BACKGROUND: Posterior Reversible Encephalopathy Syndrome (PRES) is characterized by headache, altered mental status, visual changes, and seizure combined with brain imaging consistent with cerebral edema without infarction. To the best of our knowledge, we report the first case of PRES following an endoscopic endonasal resection of a pituitary macroadenoma. CASE DESCRIPTION: A 59-year-old female was diagnosed with a pituitary macroadenoma, for which she underwent endoscopic endonasal extracapsular resection...
February 15, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28214318/clinical-course-treatment-modalities-and-quality-of-life-in-patients-with-congenital-melanocytic-nevi-data-from-the-german-cmn-registry
#4
Maria Elisabeth Wramp, Anna Langenbruch, Matthias Augustin, Detlef Zillikens, Sven Krengel
BACKGROUND: Congenital melanocytic nevi (CMN) are associated with mental stress as well as medical risks for those affected. The German CMN registry was initiated in 2005. Herein, we present results from an interim analysis focusing on disease course, treatment modalities, and quality of life. PATIENTS AND METHODS: One hundred patients enrolled in the registry between 2005 and 2012 were included in this prospective cohort study, and asked to participate in a follow-up survey...
February 2017: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
https://www.readbyqxmd.com/read/28213557/tension-pneumocephalus-induced-by-high-flow-nasal-cannula-ventilation-in-a-neonate
#5
Alicia Iglesias-Deus, Alejandro Pérez-Muñuzuri, Olalla López-Suárez, Pilar Crespo, Maria-Luz Couce
The use of high-flow nasal cannula (HFNC) therapy as respiratory support for preterm infants has increased rapidly worldwide. The evidence available for the use of HFNC is as an alternative to nasal continuous positive airway pressure (CPAP) and in particular to prevent postextubation failure. We report a case of tension pneumocephalus in a preterm infant as a complication during HFNC ventilation. Significant neurological impairment was detected and support was eventually withdrawn. Few cases of pneumocephalus as a complication of positive airway pressure have been reported in the neonatal period, and they all have been related to CPAP...
March 2017: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/28213478/endovascular-mechanical-thrombectomy-for-cerebral-venous-sinus-thrombosis-a-systematic-review
#6
REVIEW
Adeel Ilyas, Ching-Jen Chen, Daniel M Raper, Dale Ding, Thomas Buell, Panogiotis Mastorakos, Kenneth C Liu
BACKGROUND: Cerebral venous sinus thrombosis (CVST) is an uncommon form of stroke that, when severe, can be a therapeutic challenge. Endovascular mechanical thrombectomy (EMT) techniques have significantly evolved over the past decade, but data regarding the efficacy and safety of EMT for CVST are poorly defined. OBJECTIVE: To summarize the large number of case series on this relatively rare condition and establish trends in the outcomes of EMT for CVST. METHODS: A literature review was performed using PubMed and Medline to identify reports of three or more patients with CVST treated with EMT...
February 17, 2017: Journal of Neurointerventional Surgery
https://www.readbyqxmd.com/read/28211989/timothy-syndrome-1-genotype-without-syndactyly-and-major-extracardiac-manifestations
#7
Róbert Sepp, Lidia Hategan, Attila Bácsi, Judit Cseklye, László Környei, János Borbás, Márta Széll, Tamás Forster, István Nagy, Zoltán Hegedűs
Timothy syndrome 1 (TS1) is a rare genetic disorder characterized by multisystem abnormalities including QT prolongation, congenital heart defects, facial dysmorphism, episodic hypoglycemia, and neurological symptoms. A morphological hallmark of TS1 is syndactyly, present in all cases. TS1 is caused by the canonical p.Gly406Arg mutation in the alternatively spliced exon 8A in the CACNA1C gene, encoding for the main cardiac L-type calcium channel. A variant case of TS1 is reported. The proband had intermittent fetal bradycardia with heart rate of 72 bpm...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211972/tsc2-c-1864c-t-variant-associated-with-mild-cases-of-tuberous-sclerosis-complex
#8
Laura S Farach, William T Gibson, Steven P Sparagana, Mark Nellist, Connie T R M Stumpel, Marja Hietala, Elliott Friedman, Deborah A Pearson, Susan P Creighton, Annemiek Wagemans, Reveel Segel, Efrat Ben-Shalom, Kit Sing Au, Hope Northrup
Tuberous sclerosis complex (TSC) is an autosomal dominantly inherited disorder with variable expressivity associated with hamartomatous tumors, abnormalities of the skin, and neurologic problems including seizures, intellectual disability, and autism. TSC is caused by pathogenic variants in either TSC1 or TSC2. In general, TSC2 pathogenic variants are associated with a more severe phenotype than TSC1 pathogenic variants. Here, we report a pathogenic TSC2 variant, c.1864C>T, p.(Arg622Trp), associated with a mild phenotype, with most carriers meeting fewer than two major clinical diagnostic criteria for TSC...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211198/safety-of-antifibrinolytics-in-cranial-vault-reconstructive-surgery-a-report-from-the-pediatric-craniofacial-collaborative-group
#9
Susan M Goobie, Franklyn P Cladis, Chris D Glover, Henry Huang, Srijaya K Reddy, Allison M Fernandez, David Zurakowski, Paul A Stricker
BACKGROUND: Antifibrinolytic therapy significantly decreases blood loss and transfusion in pediatric cranial vault reconstructive surgery; however, concern regarding the side effects profile limits clinical use. AIMS: The aim was to utilize the Pediatric Craniofacial Surgery Perioperative Registry database to identify the safety profile of antifibrinolytic therapy for cranial vault reconstructive surgery by reporting the incidence of adverse events as they relate to exposure to tranexamic acid and aminocaproic acid compared to no exposure to antifibrinolytics...
February 17, 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/28210839/thrombotic-microangiopathy-caused-by-methionine-synthase-deficiency-diagnosis-and-treatment-pitfalls
#10
Maria Helena Vaisbich, Andressa Braga, Maria Gabrielle, Clarissa Bueno, Flávia Piazzon, Fernando Kok
BACKGROUND: Inborn errors of cobalamin (Cbl) metabolism form a large group of rare diseases. One of these, Cbl deficiency type C (CblC), is a well-known cause of thrombotic microangiopathy (TMA), especially in infants. However, there has only been a single published case of TMA associated to Cbl deficiency type G (CblG), also known as methionine synthase deficiency (MSD). CASE DIAGNOSIS/TREATMENT: A 21-month-old boy presented with pallor and oral ulcers during episodes of upper respiratory infection (URI)...
February 16, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28210528/atraumatic-spinal-cord-injury-in-the-novice-surfer-a-comprehensive-review-and-update
#11
Christian Swinney, David Flick, Moses Cheng
Novice surfers are at risk for a rare but potentially devastating form of atraumatic myelopathy. There are 16 published studies on this condition, including 66 cases. The most common suggested mechanism of injury is static hyperextension. However, active mechanisms, in contrast to static, have also been proposed and may be contributory. First time surfers, defined as those who have never been on a surfboard prior to the day of injury, are at particular risk. These individuals make up 89.5%-100% of the reported novice surfers found in the various reports...
February 2017: Hawai'i Journal of Medicine & Public Health: a Journal of Asia Pacific Medicine & Public Health
https://www.readbyqxmd.com/read/28210185/neoplastic-leptomeningeal-disease-masquerading-as-central-serous-retinopathy-a-case-report
#12
Ibrahim Elaraoud, Hanif J Suleman, Peter Cikatricis, Helen Palmer
A 69-year-old man became aware of people's speech being out of synch with their lip movements alongside persistent headaches, both of which progressively worsened. A few weeks later, he developed progressive and painless visual loss in one eye. Initial neurological evaluation, inflammatory markers and head computed tomography scan were normal. Ophthalmological examination and OCT scan revealed right macular subretinal fluid with choroidal indentation, which prompted urgent further investigations including head MRI revealing extensive leptomeningeal disease...
July 2016: Saudi Journal of Ophthalmology: Official Journal of the Saudi Ophthalmological Society
https://www.readbyqxmd.com/read/28208982/delusional-disorder-in-a-patient-with-corpus-callosum-agenesis
#13
M S Bhatia, Rashmita Saha, Nimisha Doval
Agenesis of corpus callosum is rare and associated neuropsychiatric abnormalities reported are epilepsy, Asperger's syndrome, learning problems, depression, schizophrenia, conduct disorder and conversion symptoms. Schizophrenia is the most common psychiatric disorder reported among corpus callosum agenesis. We report a rare case of delusional disorder with corpus callosum agenesis and seizure disorder. The patient presented with delusions of persecution towards younger brother and mother, disturbed sleep and reduced appetite...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28208950/cerebral-venous-thrombosis-in-pregnancy-a-poignant-allegory-of-an-unusual-case
#14
Sheeba Marwah, Gaikwad Harsha Shailesh, Sumedha Gupta, Manjula Sharma, Pratima Mittal
Cerebral Venous Thrombosis (CVT), also known as cortical venous, cerebral sinus, cerebral venous sinus, or dural sinus thrombosis, is an infrequent grave condition affecting pregnant females, resulting from clot formation in one of the many outflow tracts of the brain. Although pregnancy-associated stroke or CVT is uncommon, the risk of stroke is greatly increased above the low baseline rate in young patients during late pregnancy and, even more so, during the puerperium. Haemorrhagic infarction can occur in the acute stage of CVT...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28208948/abducens-nerve-palsy-in-pregnancy-a-case-report
#15
Sayedeh Reyhaneh Yousefi, Shokrollah Zandi
Headache, blurring of vision and confusion are neurologic symptoms of preeclampsia. Whereas abducens nerve palsy during pregnancy is an extremely rare condition, we report here a 40-year-old patient with diplopia, blurring of vision and abducens nerve palsy in the 39(th) week of pregnancy with history of hypertension (HTN). No specific pathology was found. Symptoms of abducens nerve palsy were resolved spontaneously by controlling blood pressure after delivery.
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28208912/chikungunya-and-myositis-a-case-report-in-brazil
#16
Hugo Andre Martins, Silvya Nery Bernardino, Camila Cordeiro Santos, Valdenilson Ribeiro Ribas
Chikungunya Virus (CHIKV) is a well-described alpha virus that causes infection in humans. The main symptoms are fever, rash and arthralgia and recently neurological disorders have been reported, in particular encephalitis. It is uncertain whether neurological symptoms are due to persistence of the virus or an ineffective immune response. One rarely described neurologic syndrome is myositis. In this paper, we report the case of a 19-year-old woman with mental confusion and aggressiveness two days after complaints of fever and arthralgia...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28208200/massive-pulmonary-embolism-extracorporeal-membrane-oxygenation-and-surgical-pulmonary-embolectomy
#17
Aaron Weinberg, Victor F Tapson, Danny Ramzy
Massive pulmonary embolism (PE) refers to large emboli that cause hemodynamic instability, right ventricular failure, and circulatory collapse. According to the 2016 ACCP Antithrombotic Guidelines, therapy for massive PE should include systemic thrombolytic therapy in conjunction with anticoagulation and supportive care. However, in patients with a contraindication to systemic thrombolytics or in those who fail the above interventions, extracorporeal membrane oxygenation (ECMO) and/or surgical embolectomy may be used to improve oxygenation, achieve hemodynamic stability, and successfully treat massive PE...
February 2017: Seminars in Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28207688/transmission-of-zika-virus-haiti-october-12-2015-september-10-2016
#18
Ito Journel, Lesly L Andrécy, Dudley Metellus, Jean S Pierre, Rose Murka Faublas, Stanley Juin, Amber M Dismer, David L Fitter, Daniel Neptune, Marie José Laraque, Salomon Corvil, Manise Pierre, Josiane Buteau, Donald Lafontant, Roopal Patel, Jean Frantz Lemoine, David W Lowrance, Macarthur Charles, Jacques Boncy, Paul Adrien
Zika virus disease is caused by infection with a flavivirus with broad geographic distribution and is most frequently transmitted by the bite of an infected mosquito. The disease was first identified in the World Health Organization's Region of the Americas in 2015 and was followed by a surge in reported cases of congenital microcephaly in Brazil; Zika virus disease rapidly spread to the rest of the region and the Caribbean (1), including Haiti. Infection with the virus is associated with adverse fetal outcomes (1) and rare neurologic complications in adults...
February 17, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/28203564/neurotoxicity-following-the-ingestion-of-bilimbi-fruit-averrhoa-bilimbi-in-an-end-stage-renal-disease-patient-on-hemodialysis
#19
Camille Pereira Caetano, Cinara Barros de Sá, Bruno Antônio Paixão Faleiros, Marcelo Fonseca Coutinho Fernandes Gomes, Edna Regina Silva Pereira
INTRODUCTION: The toxic effects of the ingestion of star fruit (Averrhoa carambola) in chronic kidney disease patients are well described in the literature. Recently, the compound caramboxin has been isolated, explaining the mechanisms of its neurotoxicity. Bilimbi fruit belongs to the family Oxalidaceae, Averrhoa bilimbi species, and exhibits similar biochemical characteristics to star fruit. OBJECTIVE: To report the case of a patient with chronic kidney disease who developed a seizure disorder after the ingestion of bilimbi fruit...
January 2017: Case Reports in Nephrology and Dialysis
https://www.readbyqxmd.com/read/28203468/nonconvulsive-status-epilepticus-resembling-clinical-absence-with-atypical-eeg-pattern
#20
Channaiah Srikanth Mysore, Najib Murr, Rana Zabad, John Bertoni
Objective. We are reporting two cases: a patient with steroid responsive encephalopathy associated with autoimmune thyroiditis (SREAT) and another patient with secondary progressive multiple sclerosis (SPMS), both presenting with altered mental status (AMS) and later diagnosed with nonconvulsive atypical absence status epilepticus (AS), with atypical EEG changes. Methods. A report of two cases. Results. A patient with history of SREAT and the other with SPMS had multiple admissions due to AMS. For both, EEG revealed the presence of a high voltage generalized sharply contoured theta activity...
2017: Case Reports in Neurological Medicine
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