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Case Reports in Neurological Medicine

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https://www.readbyqxmd.com/read/30159187/friedreich-s-ataxia-clinical-presentation-of-a-compound-heterozygote-child-with-a-rare-nonsense-mutation-and-comparison-with-previously-published-cases
#1
Vamshi K Rao, Christine J DiDonato, Paul D Larsen
Friedreich's ataxia is a neurodegenerative disorder associated with a GAA trinucleotide repeat expansion in intron 1 of the frataxin (FXN) gene. It is the most common autosomal recessive cerebellar ataxia, with a mean age of onset at 16 years. Nearly 95-98% of patients are homozygous for a 90-1300 GAA repeat expansion with only 2-5% demonstrating compound heterozygosity. Compound heterozygous individuals have a repeat expansion in one allele and a point mutation/deletion/insertion in the other. Compound heterozygosity and point mutations are very rare causes of Friedreich's ataxia and nonsense mutations are a further rarity among point mutations...
2018: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/30159186/recurrence-of-cryptococcal-meningitis-and-the-hidden-role-of-patient-education-and-social-support
#2
Felix Bongomin, Lorna Atikoro
Human immunodeficiency virus- (HIV-) associated cryptococcal meningitis (CM) is one of the leading causes of deaths among patients living with HIV/AIDS in resource-limited settings, accounting for ~15-20% of AIDS-related deaths globally. We present our experience with a 25-year-old woman living with HIV who had a recurrent cryptococcal disease due to nonadherence to HIV care and lack of awareness of the benefits of adherence to secondary prophylaxis for CM. This case highlights the fact that fungal diseases awareness should not be limited only to the health professionals and public health practitioners, but also to patients, caregivers, and stakeholders...
2018: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/30155327/alzheimer-s-dementia-due-to-suspected-cte-from-subconcussive-head-impact
#3
Shauna H Yuan, Sonya G Wang
Chronic traumatic encephalopathy (CTE) has been receiving increasing attention due to press coverage of professional football players. The devastating sequelae of CTE compel us to aim for early diagnosis and treatment. However, by current standards, CTE is challenging to diagnose. Clear clinical diagnostic criteria for CTE have not been established. Only recently, pathological diagnostic criteria have been recognized, but postmortem diagnosis is too late. Reliable biomarkers are not available. By imaging criteria, cavum septum pellucidum has been the only consistent identifiable MRI finding...
2018: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/30112231/primary-sphenoidal-sinus-lymphoma-with-initial-presentation-as-unilateral-abducens-nerve-palsy-symptom
#4
Xijing Mao, Lifang Jin, Bochi Zhu, Honghua Cui, Min Yao, Gang Yao
A 48-year-old man presented with 3 days of mild horizontal diplopia in the left direction, followed by the onset of headache 17 days later. A physical examination revealed isolated left abducens nerve palsy. Head computed tomography (CT) and magnetic resonance imaging (MRI) scans revealed soft-tissue density neoplasms that occupied the sphenoidal sinus and further invaded to destroy the clivus. Immunohistochemical staining of neoplasms was performed from biopsies samples. The pathological diagnosis was extranodal natural killer (NK)/T-cell lymphoma (ENKL), nasal type, associated with Epstein-Barr virus (EBV)...
2018: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/30112230/extensive-multiple-sclerosis-reactivation-after-switching-from-fingolimod-to-rituximab
#5
Trygve Holmøy, Øivind Torkildsen, Svetozar Zarnovicky
During treatment with fingolimod, B cells are redistributed from blood to secondary lymphoid organs, where they are protected from the effect of anti-CD20 and other cell-depleting therapies. We describe a multiple sclerosis patient who had almost complete depletion of B cells in blood during and shortly after treatment with fingolimod. He developed severe disease activity resembling immune reconstitution syndrome after switching from fingolimod to rituximab, with first dose being six weeks after fingolimod cessation...
2018: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/30112229/a-rare-presentation-of-invasive-tuberculosis-of-the-central-nervous-system-in-an-immunocompetent-patient-in-a-nonendemic-country
#6
Rita Martins, Carlos Casimiro, Ana Valverde, Jose Campillo
We herein report a rare case of a 25-year-old immunocompetent male patient with disseminated tuberculosis of central nervous system (CNS), first presenting as multiple cerebral lesions with no meningeal involvement. Subsequent diagnostic workup disclosed extensive peritoneal involvement. A broad differential diagnosis was considered, including neoplastic and infectious diseases. The diagnosis was confirmed with positive PCR result for Mycobacterium tuberculosis in the biopsied mesenteric tissue. The patient was started on tuberculostatic regimen with favorable outcome...
2018: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/30112228/a-case-of-diffuse-leptomeningeal-glioneuronal-tumor-misdiagnosed-as-chronic-tuberculous-meningitis-without-brain-biopsy
#7
Jung Koo Lee, Hak-Cheol Ko, Jin-Gyu Choi, Youn Soo Lee, Byung-Chul Son
Here we report a rare case of diffuse leptomeningeal glioneuronal tumor (DLGNT) in a 62-year-old male patient misdiagnosed as having tuberculous meningitis. Due to its rarity and radiologic findings of leptomeningeal enhancement in the basal cisterns on magnetic resonance imaging (MRI) similar to tuberculous meningitis, DLGNT in this patient was initially diagnosed as communicating hydrocephalus from tuberculous meningitis despite absence of laboratory findings of tuberculosis. The patient's symptoms and signs promptly improved after a ventriculoperitoneal shunting surgery followed by empirical treatment against tuberculosis...
2018: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/30105109/diplopia-a-rare-manifestation-of-neuroborreliosis
#8
Ayushi Dixit, Yesika Garcia, Lauren Tesoriero, Charles Berman, Vincent Rizzo
Early disseminated Lyme disease typically presents with cardiac, rheumatologic, or neurologic symptoms. Though uncommon, Borrelia burgdorferi can invade the central nervous system and cause neuroborreliosis. In these patients, facial palsy, headache, and stiffness of the neck are the most common presenting symptoms. Our case describes a patient with oculomotor nerve palsy manifesting as double vision as the initial presentation of neuroborreliosis.
2018: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/30073102/unilateral-upper-cervical-posterior-spinal-cord-infarction-after-a-neuroendovascular-intervention-a-case-report
#9
Kareem Elzamly, Christa Nobleza, Ellen Parker, Rebecca Sugg
Context: We describe a case of unilateral posterior upper cervical spinal cord infarction and propose a pathophysiologic mechanism causing this lesion after vertebral artery endovascular intervention. Findings: A 70-year-old male presented with subacute onset of left hemibody sensory changes and gait instability following a left vertebral angioplasty procedure. MRI cervical spine revealed upper posterior cervical spinal cord infarction (PSCI). After 3 months patient had substantial improvement of his symptoms...
2018: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/30073101/nivolumab-induced-autoimmune-encephalitis-in-two-patients-with-lung-adenocarcinoma
#10
Suma Shah, Anastasie Dunn-Pirio, Matthew Luedke, Joel Morgenlander, Mark Skeen, Christopher Eckstein
Immune checkpoint inhibitors have improved patient survival outcomes in a variety of advanced malignancies. However, they can cause a number of immune-related adverse effects (irAEs) through lymphocyte dysregulation. Central nervous system (CNS) irAEs are rare, but as the number of indications for checkpoint inhibitors increases, there has been emergence of CNS immune-mediated disease among cancer patients. Given the relatively recent recognition of checkpoint inhibitor CNS irAEs, there is no standard treatment, and prognosis is variable...
2018: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/30050706/a-blind-spot-in-the-diagnostic-field-the-challenging-diagnosis-of-tumefactive-multiple-sclerosis
#11
Ramy Mando, Emile Muallem, Shaiva G Meka, Ramona Berghea
Tumefactive Multiple Sclerosis (TMS) is a rare variant with 1 per 1000 cases of MS and 3 per million cases per year. TMS can mimic clinical and radiological features of a neoplasm, infarction, or abscess and therefore can be diagnostically challenging for clinicians. We present a clinical scenario of a patient presenting with left homonymous hemianopia with atypical radiological features initially thought to be more consistent with neoplasm or infraction. Ultimately, biopsy was done which led to the diagnosis of tumefactive multiple sclerosis...
2018: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/30050705/a-case-of-parkinson-s-disease-with-no-lewy-body-pathology-due-to-a-homozygous-exon-deletion-in-parkin
#12
Krisztina Kunszt Johansen, Sverre Helge Torp, Matthew J Farrer, Emil K Gustavsson, Jan O Aasly
Parkinson's disease (PD) is a clinical diagnosis based on the presence of cardinal motor signs, good response to levodopa, and no other explanations of the syndrome. Earlier diagnostic criteria required autopsy for a definite diagnosis based on neuronal loss in the substantia nigra pars compacta (SNpc) and the presence of Lewy bodies and neurites. Here, we present a patient who developed parkinsonism around the age of 20, with an excellent response to levodopa who, at age 65, received bilateral STN deep brain stimulation (DBS)...
2018: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/30050704/auditory-hallucinations-as-a-rare-presentation-of-occipital-infarcts
#13
Firas Ido, Reina Badran, Brandon Dmytruk, Zain Kulairi
A stroke is a clinical syndrome characterized by a focal neurologic deficit that can be attributed to a vascular territory within the brain. The presenting features of an acute stroke depends on the area of the brain affected. Although unusual, the presenting feature may include psychosis with auditory and/or visual hallucinations. A 56-year-old female was admitted to the psychiatric unit after threatening her husband with a knife. She reported experiencing altered sensorium for one week with suicidal and homicidal command hallucinations...
2018: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/30009065/retained-glass-fragment-in-the-cervical-spinal-canal-in-a-patient-with-acute-transverse-myelitis-a-case-report-and-literature-review
#14
Simonas Jesmanas, Kristina Norvainytė, Rymantė Gleiznienė, Algirdas Mačionis
A 50-year-old male presented with a one-day history of right leg weakness, numbness, and urinary retention. Weakness was present for two weeks but worsened significantly during the last 24 hours. On the right there was sensory loss in the leg and below the Th8 dermatome. On the left there was sensory loss below the Th10 dermatome and distal loss of temperature sensation. Past medical history revealed a cervical trauma 30 years ago when a glass chip lodged into the left side of the neck. The patient did not seek medical attention after removing it himself...
2018: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/30002937/acute-ascending-flaccid-paralysis-secondary-to-multiple-trigger-factor-induced-hyperkalemia
#15
K H D Thilini Hemachandra, M B Kavinda Chandimal Dayasiri, Thamara Kannangara
Background: Acute flaccid paralysis is an uncommon, but potentially life threatening, sequel of severe hyperkalemia. Reported primary aetiologies include renal failure, Addison's disease, potassium sparing diuretics, potassium supplements, and dietary excess. Coconut water, when consumed in excess, has been reported to cause severe hyperkalemia. We report the case of acute ascending flaccid paralysis secondary to hyperkalemia induced by multiple trigger factors-king coconut water, renal failure, diabetes, metabolic acidosis, and potassium sparing diuretics...
2018: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/29984017/never-too-old-occurrence-of-medulloblastoma-in-the-elderly-beyond-the-70th-year-of-life
#16
Homajoun Maslehaty, Johannes Van de Nes, Sarah Teuber-Hanselmann, Christoph Moenninghoff, Ulrich Sure, Neriman Oezkan
The occurrence of medulloblastoma (MB) in the elderly is an absolutely rare event. Concerning this issue we report on two MB patients beyond the 70th year of life. Two patients older than 70 years presented with a mass in the posterior fossa without evidence of a preexisting malignant tumor. After careful radiological work-up the suspected diagnosis was metastasis of an unknown primary tumor. Both patients underwent surgery and histopathological analysis revealed MB in both cases (classical MB and desmoplastic type)...
2018: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/29984016/melkersson-rosenthal-syndrome-a-rare-cause-of-recurrent-facial-nerve-palsy-and-acute-respiratory-distress-syndrome
#17
Behiye Deniz Kosovali, Asiye Yavuz, Fatma Irem Yesiler, Mustafa Kemal Bayar
Melkersson-Rosenthal Syndrome (MRS) is a rare disease characterized by persistent or recurrent orofacial oedema, relapsing peripheral facial paralysis, and furrowed tongue. Pathologically, granulomatosis is responsible for oedema of face, labia, oral cavity, and facial nerve. We present a patient with MRS admitted to our hospital with acute respiratory distress syndrome (ARDS). 45-year-old woman was admitted to an emergency department with dyspnea and swelling on her hands and face. She was intubated because of ARDS and accepted to intensive care unit (ICU)...
2018: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/29955405/limb-pain-as-unusual-presentation-of-a-parietal-intraparenchymal-bleeding-associated-with-crack-cocaine-use-a-case-report
#18
Alan Lucerna, James Espinosa, Taimur Zaman, Risha Hertz, Douglas Stranges
Limb pain as a presenting feature of an ischemic or hemorrhagic stroke is extremely rare. Here we present a case of a 65-year-old male with complaints of left arm pain and allodynia (specifically light touch to any part of the left arm produced significant discomfort) who was found to have a right parietal lobe intraparenchymal bleed after smoking crack cocaine. Acute central pain is mainly associated with parietal, thalamic, and brainstem lesions. It has been proposed that acute limb pain from a parietal lobe stroke is due to the disconnection of the parietal cortex from the thalamus secondary to the interruption of the pathways between the hemisphere and thalamus/basal ganglia...
2018: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/29955404/neck-tongue-syndrome-viewpoints-on-etiology-in-a-patient-with-bilateral-symptoms
#19
Jonathan S Sidlow, Mark J Raden, Richard Sidlow
Neck-Tongue Syndrome is a rare entity, and when it presents in the pediatric age group, it is usually due to osseous, ligamentous, or nervous anatomic variation. We present below a case involving a patient whose bilateral symptoms were intermittently present from the age of five to the age of twenty-one years and discuss this case in light of the present theories of the anatomic substrate underlying this syndrome.
2018: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/29955403/parkinsonism-associated-with-pathological-123i-fp-cit-spect-datscan-results-as-the-initial-manifestation-of-sporadic-creutzfeldt-jakob-disease
#20
Sira Carrasco García de León, Juan Pablo Cabello, Ramón Ortiz, Julia Vaamonde
Sporadic Creutzfeldt-Jakob disease (sCJD) is a type of progressive, subacute encephalopathy associated with spongiform degeneration of the central nervous system. sCJD includes a broad and heterogeneous spectrum of clinical variants, but extrapyramidal symptoms and signs at disease onset were rarely reported. We describe a case of unilateral parkinsonism associated with pathological 123 I-ioflupane SPECT (DaTSCAN) results as the initial manifestation of M129V subtype sCJD patient. To the best of our knowledge, only 2 cases of Creutzfeldt-Jakob disease demonstrating nigrostriatal dopaminergic deficits in vivo using DaTSCAN have been published in the literature...
2018: Case Reports in Neurological Medicine
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