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case report in neurology

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https://www.readbyqxmd.com/read/27922246/neonatal-lupus-erythematosus-report-of-a-case-with-cutaneous-hematological-and-hepatobiliary-findings
#1
Andaç Salman, Merve Hatun Sarıçam, Ayşe Deniz Yücelten, Cuyan Demirkesen, Tülin Ergun
Neonatal lupus erythematosus is an autoimmune disorder mainly affecting the heart and skin. It is the most common cause of congenital heart block. In addition, hematological, hepatobiliary and neurological involvement may occur. Herein, we report a 23-day-old infant presented with annular, erythematous, and scaly and atrophic lesions on the face and trunk. Based on the clinical, laboratory and histopathological findings, she was diagnosed as neonatal lupus erythematosus. Neonatal lupus eryhtematosus should be considered in infants presenting with annular skin lesions, and we present this case to highlight the value of high index of clinical suspicion in diagnosis...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27922168/update-of-the-swiss-guidelines-on-post-treatment-lyme-disease-syndrome
#2
Johannes Nemeth, Enos Bernasconi, Ulrich Heininger, Mohamed Abbas, David Nadal, Carol Strahm, Stefan Erb, Stefan Zimmerli, Hansjakob Furrer, Julie Delaloye, Thierry Kuntzer, Ekkehard Altpeter, Mathias Sturzenegger, Rainer Weber, For The Swiss Society For Infectious Diseases And The Swiss Society For Neurology
Lyme borreliosis is caused by Borrelia burgdorferi sensu lato infection, which responds well to antibiotic therapy in the overwhelming majority of cases. However, despite adequate antibiotic treatment some patients report persisting symptoms which are commonly summarised as post-treatment Lyme disease syndrome (PTLDS). In 2005, the Swiss Society of Infectious Diseases published a case definition for PTLDS. We aimed to review the scientific literature with a special emphasis on the last 10 years, questioning whether the definitions from 2005 are still valid in the light of current knowledge...
2016: Swiss Medical Weekly
https://www.readbyqxmd.com/read/27920716/acute-clinical-worsening-after-steroid-administration-in-cervical-myelitis-may-reveal-a-subdural-arteriovenous-fistula
#3
Silvia Rain, Jan Udding, Daniel Broere
Subdural arteriovenous fistula (SDAVF) is a rare condition characterized by clinical manifestations ranging from mild bilateral sensory deficits to quadriplegia. The diagnosis is often delayed due to unspecific neurological symptoms, initially diagnosed as polyneuropathy or myelopathy. The diagnosis can be delayed for as long as 1-15 years. The following report describes a cervical SDAVF case initially misdiagnosed as myelitis transversa and treated with intravenous steroids. A 56-year-old male presented with sensory deficits and mild leg and right arm weakness...
September 2016: Case Reports in Neurology
https://www.readbyqxmd.com/read/27920712/hypertrophic-pachymeningitis-as-an-early-manifestation-of-relapsing-polychondritis-case-report-and-review-of-the-literature
#4
Satoru Ushiyama, Tomomi Kinoshita, Yasuhiro Shimojima, Nobuhiko Ohashi, Dai Kishida, Daigo Miyazaki, Katsuya Nakamura, Yoshiki Sekijima, Shu-Ichi Ikeda
Neurological involvement in relapsing polychondritis (RP) is relatively rare. We describe the case of an 80-year-old man who presented with hypertrophic pachymeningitis (HP) together with arthritis as the first manifestation of RP. Auricular chondritis, which subsequently determined the diagnosis of RP, occurred a few weeks after the detection of HP. The neurological symptoms, as well as arthritis, were promptly improved by treatment with corticosteroids. It is generally difficult to diagnose RP in the absence of typical cartilaginous involvement; however, the present case suggests that HP may occur as an early clinical manifestation of RP...
September 2016: Case Reports in Neurology
https://www.readbyqxmd.com/read/27920686/single-agent-carboplatin-for-a-rare-case-of-pilomyxoid-astrocytoma-of-the-spinal-cord-in-an-adult-with-neurofibromatosis-type-1
#5
Anastasie M Dunn-Pirio, Elizabeth Howell, Roger E McLendon, Katherine B Peters
INTRODUCTION: Pilomyxoid astrocytoma (PMA) is a rare and more aggressive variant of pilocytic astrocytoma, which usually affects young children and is most often located in the hypothalamic/chiasmatic region. The association of PMA with underlying genetic disorders is not well known. METHODS: We identified a 23-year-old woman with a PMA of the spinal cord who was simultaneously diagnosed with neurofibromatosis type 1. Diagnosis of neurofibromatosis type 1 was made clinically and confirmed with genetic testing that revealed a heterozygous one-amino-acid deletion (c...
September 2016: Case Reports in Oncology
https://www.readbyqxmd.com/read/27920683/squamous-cell-carcinoma-in-african-children-with-xeroderma-pigmentosum-three-case-reports
#6
Mamadou Kaloga, Pauline Dioussé, Boubacar Ahy Diatta, Mariama Bammo, Sarah Kourouma, Almamy Diabate, Ndiaga Gueye, Haby Dione, Moussa Diallo, Bernard Marcel Diop
INTRODUCTION: Xeroderma pigmentosum is a rare autosomal recessive genetic disease. This disease predisposes patients to early-onset skin cancers, particularly squamous cell carcinoma. Here, we report 3 pediatric cases, including 2 deaths. OBSERVATION: The subjects included 2 boys and 1 girl with skin type VI. All subjects were from consanguineous marriages, and the average age was 7.6 years. The patients all had ulcerative budding tumor lesions in the cephalic region, and the mean disease duration was 18 months...
September 2016: Case Reports in Dermatology
https://www.readbyqxmd.com/read/27920102/modified-lambrinudi-arthrodesis-for-the-acute-treatment-of-neurogenic-clubfoot-a-case-report
#7
Eric So, Lee M Hlad
: Neurogenic contracture often results in spastic, nonreducible equinovarus deformity. Rigid contracture leads to pain, instability, and bracing difficulties. This case report details the utilization of the modified Lambrinudi triple arthrodesis intended to create a plantigrade, functional limb that is amenable to an extremity brace in a case of an acquired neurologic clubfoot. LEVELS OF EVIDENCE: Therapeutic, Level IV: Case report.
December 4, 2016: Foot & Ankle Specialist
https://www.readbyqxmd.com/read/27919794/diagnostic-utility-of-contrast-enhanced-3d-t1-weighted-imaging-in-acute-cerebral-infarction-associated-with-graves-disease
#8
Yasufumi Gon, Manabu Sakaguchi, Naoki Oyama, Hideki Mochizuki
Graves disease is rarely complicated with cerebrovascular steno-occlusive diseases. Previous studies have suggested several hypotheses for this occurrence, including excess thyroid hormone, which stimulates the sympathetic nervous system, which in turn causes an abnormal hemodynamic response with consequent atherosclerotic changes, and antithyroid antibodies cause local vascular inflammation in patients with Graves disease. However, radiological findings of vasculitis in patients with Graves disease and cerebral infarction remain less known...
December 2, 2016: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/27919547/granuloma-formation-in-a-patient-with-gne-myopathy-a-case-report
#9
Keiko Nakamura, Tsuyoshi Hamaguchi, Kenji Sakai, Daisuke Noto, Kenjiro Ono, Yukiko Hayashi, Ichizo Nishino, Masahito Yamada
We report a patient with GNE myopathy with a homozygous mutation (c.1505-4G>A) in GNE gene. The patient recognized progressive weakness of extremities at age 60. Neurological examination at age 65 revealed severe weakness and atrophy in the tibialis anterior muscles and distal predominant moderate weakness in the extremities. Muscle biopsy performed at age 65 showed myopathic changes with rimmed vacuoles, and the noteworthy finding was non-caseating epithelioid cell granuloma formation surrounded by numerous inflammatory cells...
November 18, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27919464/smart-syndrome-classic-transient-symptoms-leading-to-an-unusual-unfavorable-outcome
#10
F Bompaire, L Zinchenko, M Lahutte, K Mokhtari, D Psimaras, C Gaultier, A Monjour, J-Y Delattre, D Ricard
BACKGROUND: Stroke-like migraine attacks after radiation therapy (SMART) syndrome is a rare complication of cerebral radiation therapy that usually presents>10 years after treatment as reversible paroxysmal episodes of neurological dysfunction associated with headaches. CASES: We report here on two cases of SMART syndrome in long-term survivors of high-grade glioma for whom neuropathological data were available. The course of the disease was unfavorable. Although the clinico-radiological picture of SMART syndrome clearly differs from classic cerebral radionecrosis, the gross neuropathological lesions observed in our two patients appeared to be similar to those described in focal radionecrosis...
December 2, 2016: Revue Neurologique
https://www.readbyqxmd.com/read/27919270/delayed-hyperbaric-oxygen-therapy-for-air-emboli-after-open-heart-surgery-case-report-and-review-of-a-success-story
#11
Eva Niyibizi, Guillaume Elyes Kembi, Claude Lae, Rodrigue Pignel, Tornike Sologashvili
BACKGROUND: The current case describes a rare diagnosis of iatrogenic air emboli after elective cardiopulmonary bypass that was successfully treated with delayed hyperbaric oxygen therapy, with good clinical evolution in spite of rare complications. CASE PRESENTATION: A 35 years old male was admitted to the intensive care unit (ICU) for post-operative management after being placed on cardiopulmonary bypass (CPB) for an elective ventricular septal defect closure and aortic valvuloplasty...
December 5, 2016: Journal of Cardiothoracic Surgery
https://www.readbyqxmd.com/read/27919237/a-novel-ano3-variant-identified-in-a-53-year-old-woman-presenting-with-hyperkinetic-dysarthria-blepharospasm-hyperkinesias-and-complex-motor%C3%A2-tics
#12
Patrick R Blackburn, Michael T Zimmermann, Jennifer M Gass, Kimberly G Harris, Margot A Cousin, Nicole J Boczek, Owen A Ross, Eric W Klee, Paul W Brazis, Jay A Van Gerpen, Paldeep S Atwal
BACKGROUND: Cervical dystonias have a variable presentation and underlying etiology, but collectively represent the most common form of focal dystonia. There are a number of known genetic forms of dystonia (DYT1-27); however the heterogeneity of disease presentation does not always make it easy to categorize the disease by phenotype-genotype comparison. CASE PRESENTATION: In this report, we describe a 53-year-old female who presented initially with hand tremor following a total hip arthroplasty...
December 5, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27919116/stylohyoid-complex-eagle-syndrome-starting-in-a-9-year-old-boy
#13
Maite Gárriz-Luis, Pablo Irimia, Juan M Alcalde, Pablo Domínguez, Juan Narbona
Background There are only four previous pediatric reports of the glossopharyngeal neuralgic form of the stylohyoid complex syndrome. Stylohyoid complex has merely been described as cases of glossopharyngeal neuralgia in children. Case Report A 12-year-old boy came to our hospital because of recurrent episodes of severe cranial pain (9/10) lasting for 5 to 15 minutes. Pain affected the right tonsillar fossa, ear, and mastoid region. Since the start at the age of 9 years, the frequency of painful episodes has progressively increased: when admitted to our clinics 3 years later, the child was having up to five episodes daily in spite of analgesic, antiepileptic, and antidepressant drugs; he had abandoned school and leisure...
December 5, 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27918309/intraoperative-presentation-of-malignant-hyperthermia-confirmed-by-ryr1-gene-mutation-c-7522c-t-p-r2508c-leads-to-diagnosis-of-king-denborough-syndrome-in-a-child-with-hypotonia-and-dysmorphic-features
#14
Mark R Joseph, Mary C Theroux, James J Mooney, Shawn Falitz, Barbara W Brandom, Debra L Byler
We present the novel case report of a child with hypotonia and dysmorphic features who developed malignant hyperthermia (MH) intraoperatively. Neurology workup revealed the presence of a known causative ryanodine receptor (RYR1) mutation for MH, c.7522C>T; p.R2508C. Furthermore, the neurology workup diagnosed the child with King-Denborough syndrome (KDS). This particular mutation has never been documented in a patient with KDS. Atypical presentation of MH is more likely in patients with RYR1-related myopathy...
December 1, 2016: A & A Case Reports
https://www.readbyqxmd.com/read/27918268/severe-paediatric-conditions-linked-with-ev-a71-and-ev-d68-france-may-to-october-2016
#15
Denise Antona, Manoëlle Kossorotoff, Isabelle Schuffenecker, Audrey Mirand, Marianne Leruez-Ville, Clément Bassi, Mélodie Aubart, Florence Moulin, Daniel Lévy-Bruhl, Cécile Henquell, Bruno Lina, Isabelle Desguerre
We report 59 cases of severe paediatric conditions linked with enterovirus (EV)-A71 and EV-D68 in France between May and October 2016. Fifty-two children had severe neurological symptoms. EV sequence-based typing for 42 cases revealed EV-A71 in 21 (18 subgenotype C1, detected for the first time in France) and EV-D68 in eight. Clinicians should be encouraged to obtain stool and respiratory specimens from patients presenting with severe neurological disorders for EV detection and characterisation.
November 17, 2016: Euro Surveillance: Bulletin Européen sur les Maladies Transmissibles, European Communicable Disease Bulletin
https://www.readbyqxmd.com/read/27918255/outbreak-of-enterovirus-d68-of-the-new-b3-lineage-in-stockholm-sweden-august-to-september-2016
#16
Robert Dyrdak, Malin Grabbe, Berit Hammas, Jonas Ekwall, Karin E Hansson, Joachim Luthander, Pontus Naucler, Henrik Reinius, Maria Rotzén-Östlund, Jan Albert
We report an enterovirus D68 (EV-D68) outbreak in Stockholm Sweden in 2016. Between 22 August and 25 September EV-D68 was detected in 74/495 respiratory samples analysed at the Karolinska University Hospital. During the peak week, 30/91 (33%) samples were EV-D68 positive. Viral protein (VP)P4/VP2 sequencing revealed that cases were caused by B3 lineage strains. Forty-four (59%) EV-D68-positive patients were children aged ≤ 5 years. Ten patients had severe respiratory or neurological symptoms and one died...
November 17, 2016: Euro Surveillance: Bulletin Européen sur les Maladies Transmissibles, European Communicable Disease Bulletin
https://www.readbyqxmd.com/read/27918194/first-report-of-tumor-treating-fields-use-in-combination-with-bevacizumab-in-a-pediatric-patient-a-case-report
#17
Daniel O'Connell, Violet Shen, William Loudon, Daniela A Bota
We report the first case of a pediatric patient with glioblastoma (GBM; WHO grade IV astrocytoma) successfully treated with tumor treating fields (TTF). The patient was diagnosed with GBM when 13 years of age and progressed through surgical resection, radiotherapy and chemotherapy. Discrete tumor growth visualized on MRI with stable neurological examination was monitored for 6 months with subsequent stable disease observed radiographically and clinically for 7 months while adherent to Optune(®) (TTF). TTF thereby played a role in forestalling recurrent GBM growth in this young woman for 7 months without significant adverse effects...
December 5, 2016: CNS Oncology
https://www.readbyqxmd.com/read/27917700/posterior-reversible-encephalopathy-syndrome-following-elevated-mean-arterial-pressures-for-cervical-spinal-cord-injury
#18
Jeffrey H Zimering, Addisu Mesfin
BACKGROUND: Increasing the mean arterial pressure (MAP) is an accepted treatment modality to minimize the risk for irreversible neurologic damage secondary to spinal cord ischemia. Posterior reversible encephalopathy syndrome (PRES) is a rare complication occurring after transplantation surgery, in persons having an autoimmune disorder or after abrupt increases in blood pressure of various etiologies. STUDY DESIGN: Case report. METHODS: Retrospective evaluation of medical records...
December 5, 2016: Journal of Spinal Cord Medicine
https://www.readbyqxmd.com/read/27917383/hakim-adams-syndrome-an-unusual-cause-of-reversible-postoperative-coma
#19
Mohamed Saleh, Marine Bouex
We report the case of a 72-year-old patient presenting in our ICU with persistent postoperative coma in a context of recent unexplored neurological dysfunction. Detailed medical history taking from the patient's family revealed he recently suffered from gait instability, urinary incontinence, and slight cognitive impairment. These constituted the clinical triad of normal pressure hydrocephalus syndrome. The presence of normal cerebrospinal fluid (CSF) pressure and distinctive radiological findings confirmed the diagnosis of normal pressure hydrocephalus or Hakims-Adams syndrome...
2016: Frontiers in Medicine
https://www.readbyqxmd.com/read/27917338/six-different-extremely-calcified-lesions-of-the-brain-brain-stones
#20
Yurdal Gezercan, Vedat Acik, Gökhan Çavuş, Ali Ihsan Ökten, Emre Bilgin, Hakan Millet, Burak Olmaz
BACKGROUND: This study aimed to extend clinical documentation of cerebral calculi by reporting six cases of cerebral calculi with distinct etiologies and localizations. METHODS: We evaluated the age, sex distribution, presenting symptoms, neurological examination findings, pathology results, and location of the calcifications of six patients with intracranial calcifications. RESULTS: Three of the six patients with brain stones were female (50%), and three were male (50%)...
2016: SpringerPlus
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