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case report in neurology

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https://www.readbyqxmd.com/read/29792179/hopkins-syndrome-following-the-first-episode-of-bronchial-asthma-associated-with-enterovirus-d68-a-case-report
#1
Fumie Hayashi, Shintaro Hayashi, Dai Matsuse, Ryo Yamasaki, Keiji Yonekura, Jun-Ichi Kira
BACKGROUND: Hopkins syndrome (HS) is a rare disorder presenting with acute flaccid paralysis of the limbs following an asthma attack. Neurologists encounter a diagnostic challenge if patients without a history of bronchial asthma develop neurologic features mimicking HS following acute respiratory distress. We report a case of HS occurring after a first episode of bronchial asthma associated with enterovirus D68 infection. CASE PRESENTATION: A 5-year-old girl developed acute respiratory distress...
May 23, 2018: BMC Neurology
https://www.readbyqxmd.com/read/29792178/anti-ganglioside-complex-antibody-profiles-in-a-recurrent-complicated-case-of-gq1b-seronegative-miller-fisher-syndrome-and-bickerstaff-brainstem-encephalitis-a-case-report
#2
Hiroto Ito, Yuki Hatanaka, Yuki Fukami, Yumiko Harada, Rei Kobayashi, Hisashi Okada, Ayumi Uchibori, Atsuro Chiba, Satoshi Okuda
BACKGROUND: Guillain-Barré syndrome (GBS), Miller Fisher syndrome (MFS) and Bickerstaff brainstem encephalitis (BBE) are a group of autoimmune neurological disorders (GBS spectrum disorder) that rarely recur. Recently, anti-ganglioside complex antibodies (GSC-Abs) were identified in patients with GBS spectrum disorder. However, there has been no case report describing GSC-Abs profiles in a recurrent case showing different phenotypes. CASE PRESENTATION: We report the case of a 33-year-old male patient with GQ1b-seronegative BBE-GBS after two prior episodes of MFS-GBS...
May 23, 2018: BMC Neurology
https://www.readbyqxmd.com/read/29792164/a-case-report-of-reversible-generalized-seizures-in-a-patient-with-waardenburg-syndrome-associated-with-a-novel-nonsense-mutation-in-the-penultimate-exon-of-sox10
#3
Noriomi Suzuki, Hideki Mutai, Fuyuki Miya, Tatsuhiko Tsunoda, Hiroshi Terashima, Noriko Morimoto, Tatsuo Matsunaga
BACKGROUND: Waardenburg syndrome type 1 (WS1) can be distinguished from Waardenburg syndrome type 2 (WS2) by the presence of dystopia canthorum. About 96% of WS1 are due to PAX3 mutations, and SOX10 mutations have been reported in 15% of WS2. CASE PRESENTATION: This report describes a patient with WS1 who harbored a novel SOX10 nonsense mutation (c.652G > T, p.G218*) in exon 3 which is the penultimate exon. The patient had mild prodromal neurological symptoms that were followed by severe attacks of generalized seizures associated with delayed myelination of the brain...
May 23, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29791932/b3galnt2-related-dystroglycanopathy-expansion-of-the-phenotype-with-novel-mutation-associated-with-muscle-eye-brain-disease-walker-warburg-syndrome-epileptic-encephalopathy-west-syndrome-and-sensorineural-hearing-loss
#4
Muna A Al Dhaibani, Ayman W El-Hattab, Omar Ismayl, Jehan Suleiman
Mutations in B3GALNT2 , encoding a glycosyltransferase enzyme involved in α-dystroglycan glycosylation, have been recently associated with dystroglycanopathy, a well-recognized subtype of congenital muscular dystrophy (CMD). Only a few cases have been reported with B3GALNT2 -related dystroglycanopathy with variable severity ranging from mild CMD to severe muscle-eye-brain disease. Here, we describe a child with a novel homozygous nonsense mutation in B3GALNT2 . The affected child has severe neurological disease since birth, including muscle disease manifested as hypotonia, muscle weakness, and wasting with elevated creatine kinase, eye disease including microphthalmia and blindness, brain disease with extensive brain malformations including massive hydrocephalus, diffuse cobblestone-lissencephaly, deformed craniocervical junction, and pontocerebellar hypoplasia...
May 23, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29791269/the-cystic-dilation-of-ventriculus-terminalis-with-neurological-symptoms-three-case-reports-and-a-literature-review
#5
Iraj Lotfinia, Ata Mahdkhah
CONTEXT: The ventriculus terminalis (VT) is a very small ependymal-lined residual lumen in the conus medullaris. It is normally present in all subjects during fetal development. VT in adults appears as an unusual pathology with an uncertain pathogenesis. FINDINGS: In this paper, we described three case reports of symptomatic fifth ventricle cystic dilations. All of them were female and their mean age was 59 years. We treated them surgically and all three patients were improved based on clinical and imaging assessments...
May 23, 2018: Journal of Spinal Cord Medicine
https://www.readbyqxmd.com/read/29790849/-n-methyl-d-aspartate-receptor-antibody-encephalitis-the-janus-faced-disorder
#6
Ildiko Sipos
The recognition of the antibody-mediated encephalitis as a separate entity among the immune disorders of the central nervous system was one of the greatest breakthroughs of the last two decades in neurology. Unlike viral or tumor-related encephalitis, the antibody-mediated form has a good response to immunotherapy, which gives a special clinical importance to the discovery. Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is one of the first fully characterized antibody-mediated encephalitises. This article attempts to summarize the clinical features of this complex neuropsychiatric disorder with the aim to help its early recognition and to report the clinical course and the outcome of our six seropositive anti-NMDAR cases...
March 2018: Neuropsychopharmacologia Hungarica
https://www.readbyqxmd.com/read/29790465/multiple-victims-of-carbon-monoxide-poisoning-in-the-aftermath-of-a-wildfire-a-case-series
#7
Luís Ramos Santos, Magna Alves-Correia, Margarida Câmara, Manuela Lélis, Carmo Caldeira, Maria Luz Brazão, José Júlio Nóbrega
INTRODUCTION: Carbon monoxide poisoning may occur in several contexts. MATERIAL AND METHODS: Retrospective of 37 carbon monoxide poisoning cases that underwent hyperbaric oxygen during wildfires in Funchal in August 2016. RESULTS: The studied sample included 37 patients, mean age of 38 years, 78% males. Ten were firefighters, four children and two pregnant victims. Neurological symptoms were the most reported. Median carboxyhemoglobin level was 3...
March 29, 2018: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/29788958/langerhans-cell-histiocytosis-at-l5-vertebra-treated-with-en-bloc-vertebral-resection-a-case-report
#8
Lunhao Chen, Zhong Chen, Yue Wang
BACKGROUND: Langerhans cell histiocytosis (LCH) in adult lumbar spine is extremely rare, and optimal treatments remain unclear. In literature, only a few cases of lumbar spine LCH were treated using surgery but en bloc vertebral resection has not been used. CASE PRESENTATION: A 50-year-old man presented with unbearable radiating pain at his right leg. Radiological studies revealed a solitary osteolytic lesion, which was moderately enhanced on contrast MR imaging and hyper-metabolic on PET/CT, at the right L5 vertebral body and arch...
May 22, 2018: World Journal of Surgical Oncology
https://www.readbyqxmd.com/read/29788779/elevated-serum-lipid-peroxidation-and-reduced-vitamin-c-and-trace-element-concentrations-are-correlated-with-epilepsy
#9
Abhijit Das, Md Shahid Sarwar, Md Shohel Hossain, Palash Karmakar, Mohammad Safiqul Islam, Mohammad Enayet Hussain, Sujan Banik
BACKGROUND: Epilepsy is one of the chronic and heterogeneous epidemic neurological disorders leading to substantial mortality. The aim of the present study was to investigate the serum levels of malondialdehyde (MDA), vitamin C, and trace elements namely zinc (Zn), copper (Cu), and manganese (Mn) in epileptic patients of Bangladesh and to establish if there are any pathophysiological correlations. METHODS: This was a case-control study with 40 generalized epileptic patients and 40 healthy subjects as controls...
May 1, 2018: Clinical EEG and Neuroscience: Official Journal of the EEG and Clinical Neuroscience Society (ENCS)
https://www.readbyqxmd.com/read/29787878/gamma-knife-radiosurgery-of-the-superior-laryngeal-neuralgia-a-report-of-three-cases
#10
Peng Fu, Nan-Xiang Xiong, Ahmed Abdelmaksoud, Yi-Zhi Huang, Guo-Bin Song, Hong-Yang Zhao
BACKGROUND: Superior laryngeal neuralgia (SLN) is a relatively rare disorder that is characterized by neck pain. There are only a few reported cases and treatment options for SLN to date. OBJECTIVE: In this study, we reported 3 patients with SLN who were treated with gamma knife radiosurgery (GKRS) at the time of diagnosis. METHODS: For all 3 patients, GKRS was administered using a 4-mm collimator to deliver a single shot of 80 Gy of radiation (the 100% isodose line)...
May 19, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29787393/recanalization-of-chronic-occlusion-of-the-middle-cerebral-artery-with-tissue-plasminogen-activator-treatment-a-case-report
#11
Seung Jae Lee, Jin Sung Cheong, Han Uk Ryu, Hyun Goo Kang
OBJECTIVES: Patients with chronic proximal middle cerebral artery (MCA) occlusion do not present with severe symptoms, but early recanalization of acute occlusion is associated with high morbidity and mortality. Tissue plasminogen activator (tPA) is a recombinant thrombolytic agent approved for treating ischemic stroke, although only a few cases of tPA administration in chronic MCA occlusion have yielded positive results. METHODS: A 71-year-old patient had a history of right MCA territorial infarction with the occlusion occurring 12 years ago (November 2005)...
May 21, 2018: Clinical Neuropharmacology
https://www.readbyqxmd.com/read/29785673/the-impact-of-transcranial-direct-current-stimulation-tdcs-on-bipolar-depression-mania-and-euthymia-a-systematic-review-of-preliminary-data
#12
Clément Dondé, Nicholas H Neufeld, Pierre A Geoffroy
The neurobiological basis of bipolar disorders (BD) has received increased attention and several brain regions and brain circuits have been correlated with clinical symptoms. These brain regions and circuits may represent targets for neuromodulation techniques such as transcranial Direct Current Stimulation (tDCS). We systematically reviewed the literature to explore the risks and benefits of tDCS in BD and examined all mood states. Following the PRISMA guidelines, a systematic literature search using several databases was performed from April 2002 to June 2017...
May 21, 2018: Psychiatric Quarterly
https://www.readbyqxmd.com/read/29785585/poisoning-associated-with-inappropriate-use-of-a-eutectic-mixture-of-lidocaine-and-prilocaine-before-laser-assisted-hair-removal-about-3-cases
#13
Weniko Caré, Islam-Amine Larabi, Jérôme Langrand, Chantal Medernach, Jean-Claude Alvarez, Antoine Villa
BACKGROUND: Eutectic mixtures of lidocaine and prilocaine are used during painful dermatological procedures. Poisoning is rarely reported in adults. MATERIAL AND METHOD: We report three cases of women who experienced lidocaine and prilocaine poisoning after laser-assisted hair removal. Plasma levels of local anesthetics were assayed by a fully validated liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS) method. CASE REPORTS: The rules of application of the anesthetic cream were observed apart from the maximum dose and/or maximum surface area...
May 21, 2018: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/29784613/cryoglobulinemic-glomerulonephritis-associated-with-nodal-and-renal-infiltration-by-t-cell-lymphoma-of-t-follicular-helper-phenotype-a-case-report
#14
Jennifer Li, Marille Umakanathan, Chow Heok P'ng, Winny Varikatt, Fiona Kwok, Ming-Wei Lin, Mirna Vucak-Dzumhur
We present a unique case of cryoglobulinemic glomerulonephritis associated with nodal and renal infiltration by T-cell lymphoma of T-follicular helper phenotype. The patient presented with transient neurologic symptoms, severe nephritic syndrome with nephrotic-range proteinuria, and acute kidney injury. He had elevated double-stranded DNA levels, low complement levels, detectable cryoglobulin, and detectable immunoglobulin M (IgM) paraprotein. The kidney biopsy showed cryoglobulinemic glomerulonephritis with a membranoproliferative pattern and diffuse interstitial infiltrates on light microscopy; IgM, C3 but weak IgG, C1q, and negative C4d staining on immunofluorescence; and deposits with organized substructures on electron microscopy...
May 18, 2018: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29783990/severe-hepatopathy-and-neurological-deterioration-after-start-of-valproate-treatment-in-a-6-year-old-child-with-mitochondrial-tryptophanyl-trna-synthetase-deficiency
#15
Elise Vantroys, Joél Smet, Arnaud V Vanlander, Sarah Vergult, Ruth De Bruyne, Frank Roels, Hedwig Stepman, Herbert Roeyers, Björn Menten, Rudy Van Coster
BACKGROUND: The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phenotype, Parkinson-like phenotype). RESULTS: Here, we report on a subject who presented with early developmental delay, motor weakness and intellectual disability and who was considered during several years as having a non-progressive encephalopathy...
May 21, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29782395/pull-out-of-upper-thoracic-pedicle-screws-can-cause-spinal-canal-encroachment-in-growing-rod-treatment
#16
Senol Bekmez, Aykut Kocyigit, Zeynep Deniz Olgun, Mehmet Ayvaz, Halil Gokhan Demirkiran, Ergun Karaagaoglu, Muharrem Yazici
BACKGROUND: Proximal foundation failure is a common complication of growing rod (GR) treatment for early-onset scoliosis. Spinal canal encroachment due to pull-out of pedicle screw used as proximal foundation has been anecdotally reported in GR patients. The aim of this study is to report the prevalence of spinal canal encroachment of pedicle screws in GR treatment and determine risk factors using a single-center cohort. METHODS: Inclusion criteria were: (1) GR for early-onset scoliosis and (2) pull-out of at least 1 proximal anchor pedicle screw...
May 4, 2018: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/29781569/pediatric-superior-vena-cava-syndrome-an-evidence-based-systematic-review-of-the-literature
#17
REVIEW
Fadi Nossair, Peter Schoettler, Joanne Starr, Anthony K C Chan, Ivan Kirov, Bosco Paes, Arash Mahajerin
Superior vena cava syndrome (SVCS) results in vascular, respiratory, and neurologic compromise. A systematic search was conducted to determine the prevalence of pediatric SVCS subtypes and identify clinical characteristics/treatment strategies that may influence overall outcomes. Data from 101 case reports/case series (142 patients) were analyzed. Morbidity (30%), mortality (18%), and acute complications (55%) were assessed as outcomes. Thrombosis was present in 36%, with multi-modal anticoagulation showing improved outcome by >50% (P = 0...
May 21, 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29781197/efficacy-and-safety-of-levetiracetam-for-migraine-prophylaxis-a-systematic-review
#18
REVIEW
A K Watkins, M E Gee, J N Brown
WHAT IS KNOWN AND OBJECTIVE: Migraine is a common and costly neurological disorder that affects approximately 1 of every 7 people annually. Pharmacological therapy for prevention of migraine is warranted when patients experience at least 6 headache days, 4 headache days with at least some impairment or 3 headache days with severe impairment or requiring bed rest in a month. Levetiracetam is an antiepileptic drug that has the potential to be beneficial for migraine prophylaxis. The objective of this review was to assess the safety and efficacy of levetiracetam for migraine prophylaxis...
May 20, 2018: Journal of Clinical Pharmacy and Therapeutics
https://www.readbyqxmd.com/read/29781194/paraneoplastic-autoimmune-encephalitis-associated-with-pleomorphic-lung-carcinoma-an-autopsy-case-report
#19
Takashi Ando, Yoji Goto, Kazuo Mano, Fumio Nomura, Masako Kurashige, Masafumi Ito, Maya Mimuro, Yasushi Iwasaki, Masahisa Katsuno, Mari Yoshida
A 64-year-old man was admitted with acute onset disturbed consciousness. Cerebrospinal fluid analysis revealed pleocytosis and elevated protein, with negative cultures and PCR. Serum antibodies for autoimmune encephalitis were also negative. Brain magnetic resonance imaging (MRI) was unremarkable, but whole-body CT scan showed a tumor in the left lower lung lobe. Bronchial brush cytology demonstrated clusters of malignant cells, and 18 F-fluorodeoxyglucose positron emission tomography showed multiple lesions and increased uptake in the lung tumor...
May 20, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29780794/pediatric-scurvy-when-contemporary-eating-habits-bring-back-the-past
#20
Alice Brambilla, Cristina Pizza, Donatella Lasagni, Lucia Lachina, Massimo Resti, Sandra Trapani
Vitamin C deficiency is anecdotal in developed countries, mainly associated with underling clinical morbidities as autism or neurological impairment. Chronic insufficient dietary supply is responsible for vascular fragility and impaired bone formation, resulting in gingival bleeding, petechial lesions, articular and bone pain or limb swelling. Children may present anorexia, irritability, failure to thrive, limping or refusal to walk. Accordingly, pediatric scurvy is frequently misdiagnosed with osteomyelitis, septic arthritis, bone and soft tissue tumor, leukemia, bleeding disorders, and rheumatologic conditions...
2018: Frontiers in Pediatrics
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