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Case Reports in Neurology

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https://www.readbyqxmd.com/read/28966590/tubb2b-mutation-in-an-adult-patient-with-myoclonus-dystonia
#1
Joshua T Geiger, Alice B Schindler, Cornelis Blauwendraat, Harvey S Singer, Sonja W Scholz
BACKGROUND: Tubulin mutations are a cause of neuronal migrational disorders referred to as tubulinopathies. Mutations in tubulin genes can have a severe impact on microtubule function and result in heterogeneous clinical presentations. Current understanding of the clinical spectrum of tubulinopathies is predominantly based on research in fetal tissue and early-childhood cases. METHODS: Testing of candidate genes followed by whole-exome sequencing was performed in an adult woman with a neurodevelopmental, hyperkinetic movement disorder, to identify the underlying genetic cause...
May 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28966589/recurrent-patent-foramen-ovale-related-cerebral-infarcts-alternately-causing-bilateral-hand-paresis
#2
Seung-Jae Lee
Isolated hand paresis is a rare presentation of stroke, which mostly results from a lesion in the cortical hand motor area, a knob-like area within the precentral gyrus. I report the case of a patient who experienced recurrent ischemic stroke alternately involving bilateral hand knob areas, causing isolated hand paresis. There was no abnormal finding on brain and neck magnetic resonance angiography, transthoracic echocardiography, and 48-h Holter monitoring, and there were no abnormal immunologic and coagulation laboratory findings...
May 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28966588/ischemic-stroke-in-a-young-patient-heralding-a-left-ventricular-noncompaction-cardiomyopathy
#3
Fanny Lestienne, Chiara Bruno, David Bertora, Jeanne Benoit, Marie-Hélène Mahagne, Laurent Suissa
Strokes in young patients may be the clinical expression of many complex and extremely rare diseases. Uncommon causes constitute less than 5% of all strokes, but are present in 30% of strokes in young patients. We report the case of a young woman whose ischemic stroke led to the diagnosis of a rare embolic cardiomyopathy, left ventricular noncompaction cardiomyopathy, requiring a heart transplant.
May 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28966587/unexpected-aphasia-following-right-temporal-lobectomy-as-treatment-of-recurrent-super-refractory-status-epilepticus
#4
Utku Uysal, Patrick Landazuri, Caleb Pearson, Manoj Mittal, Nancy Hammond
BACKGROUND: Super-refractory status epilepticus (SRSE) is a critical neurological condition with a high mortality rate. There are only limited data to direct the treatment in SRSE, and surgery has been reported to successfully stop SRSE. We present a case of recurrent SRSE treated with urgent right temporal lobectomy in a right-handed woman which potentially saved her life but resulted in crossed sensory aphasia. CASE DESCRIPTION: A 61-year-old woman with a recent episode of prolonged focal SRSE due to right frontotemporal meningioma and hyperkalemia was admitted for recurrence of seizures that evolved to SRSE despite aggressive treatment with multiple fosphenytoin antiepileptic drugs (AEDs) and anesthetics...
May 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28966586/herpes-simplex-virus-type-1-human-cervical-dorsal-root-ganglionitis
#5
Tibor Valyi-Nagy, Jaivir S Rathore, Andrei M Rakic, Ranvir S Rathore, Paavani Jain, Konstantin V Slavin
We present a case of a 34-year-old right-handed Caucasian male with chronic occipital neuralgia refractory to medical therapies and minimally invasive pain procedures who underwent surgical cervical dorsal root ganglionectomy which completely relieved his headaches. The histopathological and immunohistochemical findings of the resected cervical dorsal root ganglia were consistent with active herpes simplex virus type 1 (HSV-1) infection causing ganglionitis. To the best of our knowledge, this case represents the first histopathologically proven HSV-1 cervical dorsal root ganglionitis in humans...
May 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28966585/combination-treatment-of-low-frequency-repetitive-transcranial-magnetic-stimulation-and-intensive-occupational-therapy-for-ataxic-hemiparesis-due-to-thalamic-hemorrhage
#6
Naoki Urushidani, Takatsugu Okamoto, Shoji Kinoshita, Shingo Yamane, Hiroaki Tamashiro, Wataru Kakuda, Masahiro Abo
BACKGROUND: Both low-frequency repetitive transcranial magnetic stimulation (LF-rTMS) and intensive occupational therapy (OT) are clinically beneficial for post-stroke patients with upper-limb hemiparesis. However, the usefulness of LF-rTMS and intensive OT for ataxic hemiparesis (AH) is unknown. METHODS: The study subjects included 7 patients with AH. All patients had ataxia and mild hemiparesis without a sensory disturbance that was due to thalamic hemorrhage...
May 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28868030/association-of-posterior-reversible-encephalopathy-syndrome-and-transient-apical-ballooning-syndrome-takotsubo-first-case-report-of-a-man-and-review-of-the-literature
#7
Stephan Grimaldi, Emilie Doche, Caroline Rey, Nadia Laksiri, Salah Boussen, Jacques Quilici, Emmanuelle Robinet, Fabien Devemy, Jean Pelletier
INTRODUCTION: An association of posterior reversible encephalopathy syndrome (PRES) and takotsubo is rare. We present the first case of a male patient. CASE REPORT: A 69-year-old man presented to the hospital in a persistent comatose state following a generalized tonic-clonic seizure with high blood pressure. The electrocardiogram revealed transient left bundle branch block. Troponin and BNP were elevated. Cardiac ultrasound showed large apical akinesia with altered left ventricular ejection fraction, and the left ventriculogram showed characteristic regional wall motion abnormalities involving the mid and apical segments...
May 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28868029/thrombosis-of-the-vein-of-galen-pitfalls-metamorphosis-and-paroxysmal-sympathetic-hyperactivity
#8
Paulo César Santos-Soares, Jamary Oliveira-Filho
Isolated thrombosis of the vein of Galen is a rare and serious entity with few cases reported in the literature. We report the case of a previously healthy 18-year-old male who was admitted after developing headache and subsequently worsening mental status, requiring endotracheal intubation for airway protection. During his admission he developed symptoms of severe paroxysmal sympathetic hyperactivity and posturing. The computed tomography and magnetic resonance imaging of the brain showed bilateral thalamic lesions...
May 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28690533/dysphagia-in-perry-syndrome-pharyngeal-pressure-in-two-cases
#9
George Umemoto, Yoshio Tsuboi, Hirokazu Furuya, Takayasu Mishima, Shinsuke Fujioka, Naoki Fujii, Hajime Arahata, Miwa Sugahara, Mitsuaki Sakai
BACKGROUND: To investigate the impact of dysphagia in Perry syndrome (PS), an autosomal dominant parkinsonism caused by mutation of DCTN1, which is associated with hypoventilation, depression, and weight loss. CASE PRESENTATION: We used tongue pressure measurements and manofluorography to investigate swallowing function in 2 patients with PS. Case 1, a 60-year-old male showing parkinsonism, and case 2, a 49-year-old male admitted with pneumonia, were diagnosed as having PS based on the DCTN1 gene analysis...
May 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28690532/safe-intravenous-thrombolysis-after-traumatic-cardiopulmonary-resuscitation-with-rib-fractures-a-case-report
#10
Andrea Dressing, Zina Graeter, Juergen Bardutzky
We report a case of successful intravenous thrombolysis for a distal middle cerebral artery occlusion shortly after traumatic cardiopulmonary resuscitation due to an episode of ventricular tachycardia. A high prevalence of fatal cardiac arrhythmias in acute stroke patients raises the question of safety when administrating thrombolytic therapy after traumatic cardiopulmonary resuscitation; guidelines do not provide a satisfactory statement about this. Our case suggests that intravenous tissue-type plasminogen activator for acute ischemic stroke can be administered after a thorough risk-to-benefit evaluation without major adverse effects in patients after traumatic cardiopulmonary resuscitation, as bleeding complications seem rare and can be monitored and treated...
May 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28690531/stem-cells-in-the-treatment-of-refractory-chronic-migraines
#11
Alexander Mauskop, Kenneth O Rothaus
BACKGROUND: Autologous adipose-derived stromal vascular fraction (SVF), which is rich in mesenchymal stromal cells, has been reported to be effective for the treatment of trigeminal neuropathic pain and chronic migraine and tension-type headaches. It is possible that stem cell activity targets neurogenic inflammation, which is a well-documented aspect of migraine pathogenesis. METHODS: Adult patients with severe migraine-related disability as measured by the Migraine Disability Assessment (MIDAS) score who failed botulinum toxin injections and at least 3 prophylactic drugs were included in this study...
May 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28626413/the-crossed-flexor-plantar-response-in-patients-with-klippel-feil-syndrome
#12
Anna Sadnicka, Simon F Farmer
The plantar reflex is one of most important and widely tested components of the neurological examination. We describe 3 subjects with Klippel-Feil syndrome and mirror movements where unilateral cutaneous stimulation of the foot leads to flexor plantar responses in both feet. We discuss the evidence which suggests that this "crossed flexor" plantar response reveals a transcortical pathway for the flexor plantar response.
May 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28626412/congenital-bilateral-c2-transverse-foramina-stenosis-causing-adult-onset-vertebrobasilar-insufficiency-and-posterior-circulation-stroke
#13
Ajeet Gordhan, Catherine Lockhart
Vertebrobasilar insufficiency leading to posterior circulation infarcts caused by congenital hypoplasia of the bilateral transverse foramina at the C2 level, affecting the caliber and flow of the bilateral distal cervical vertebral arteries in an adult, has not been previously reported. A 41-year-old male presented with episodic dizziness for a period of 1 year prior to consultation. Computed tomography angiography of the head and neck demonstrated congenital hypoplasia of the bilateral C2 transverse foramina, with absence of the vertebral arteries in each of the foramina and collateral reconstitution of diminutive intracranial vertebral artery segments...
May 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28626411/dissociated-crossed-speech-areas-in-a-tumour-patient
#14
Jörg Mauler, Irene Neuner, Georg Neuloh, Bruno Fimm, Frank Boers, Martin Wiesmann, Hans Clusmann, Karl-Josef Langen, N Jon Shah
In the past, the eloquent areas could be deliberately localised by the invasive Wada test. The very rare cases of dissociated crossed speech areas were accidentally found based on the clinical symptomatology. Today functional magnetic resonance imaging (fMRI)-based imaging can be employed to non-invasively localise the eloquent areas in brain tumour patients for therapy planning. A 41-year-old, left-handed man with a low-grade glioma in the left frontal operculum extending to the insular cortex, tension headaches, and anomic aphasia over 5 months underwent a pre-operative speech area localisation fMRI measurement, which revealed the evidence of the transhemispheric disposition, where the dominant Wernicke speech area is located on the left and the Broca's area is strongly lateralised to the right hemisphere...
May 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28626410/neuromyelitis-optica-spectrum-disorder-coinciding-with-spinocerebellar-ataxia-type-31
#15
Yoshiaki Takahashi, Yasuhiro Manabe, Ryuta Morihara, Hisashi Narai, Toru Yamashita, Koji Abe
We report the unusual case of a 63-year-old man with spinocerebellar ataxia (SCA) type 31 who developed neuromyelitis optica spectrum disorder (NMOSD) 14 years after the onset of cerebellar symptoms. In addition to cerebellar atrophy, magnetic resonance imaging showed multiple high-intensity areas in the brain and a long thoracic cord lesion from Th1/2 to Th11. The combination of NMOSD and SCA31 is accidental. However, our case suggests that inflammatory processes could be involved in the pathogenesis of NMOSD and SCA31...
May 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28626409/hiv-associated-cerebellar-dysfunction-and-improvement-with-aminopyridine-therapy-a-case-report
#16
Carolin Hoyer, Angelika Alonso, Beate Schlotter-Weigel, Michael Platten, Marc Fatar
Apart from infectious causes and cerebellar dysfunction associated with acquired immune deficiency syndrome dementia or HIV-associated neurocognitive disorder, cerebellar dysfunction in HIV-positive individuals has been ascribed to granule cell neuronopathy as well as primary cerebellar atrophy without identifiable etiology. We report the case of a patient with progressive cerebellar dysfunction as the primary manifestation of HIV infection. No symptom improvement was seen under combination antiretroviral therapy, which had been established upon diagnosis, but the patient improved rapidly under 4-aminopyridine treatment, which was recommended 1 year later...
May 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28611643/uncommon-presentation-of-idiopathic-intracranial-hypertension-in-a-patient-with-polycystic-ovary-syndrome-a-case-report
#17
Anas Mohammad Albarrak, Suleiman Kojan
INTRODUCTION: Idiopathic intracranial hypertension is a rare condition characterized by increased intracranial pressure without clinical, laboratory, or radiological evidence of intracranial pathology. Early management could prevent irreversible outcomes. CASE PRESENTATION: A 17-year-old single Arabian female of Arab origin presented with a 2-day complaint of horizontal diplopia and transient visual obscurations. She denied any history of headache or decreased vision...
January 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28611642/a-case-report-of-severe-delirium-after-amantadine-withdrawal
#18
Franz Marxreiter, Jürgen Winkler, Martin Uhl, Dominik Madžar
Amantadine is frequently used in addition to dopaminergic substances like dopamine agonists or L-Dopa in advanced Parkinson disease (PD). However, adverse effects like hallucinations limit its use. PD patients developing severe psychotic symptoms upon treatment with either dopaminergic substances and/or amantadine need to stop intake of any psychotropic substance. Here, we report the case of a 71-year-old PD patient without previously known cognitive impairment. He presented with drug-induced psychotic symptoms due to changes in his therapeutic regimen (increase in COMT inhibitors, newly introduced MAO B inhibitors)...
January 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28611641/a-case-of-anoxic-brain-injury-presenting-with-agraphia-of-kanji-in-the-foreground
#19
Yasutaka Kobayashi, Risa Yamauchi
A 63-year-old woman was hospitalized for rehabilitation from the aftereffects of an anoxic brain injury. In addition to a general cognitive decline, agraphia of kana and kanji was noted at the time of admission, which had advanced to agraphia which is dominant in kanji at the time of hospital discharge. Brain magnetic resonance imaging revealed no stroke lesions, and brain perfusion scintigraphy found a decreased blood flow in the bilateral parietal lobes. We hereby report on this case because case reports on agraphia caused by anoxic brain injury are extremely rare...
January 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28611640/visual-loss-from-choroidal-melanoma-mimicking-neurological-syndromes
#20
Karim Hammamji, Ehud Reich, Amit Arora, Victoria M L Cohen, Mandeep S Sagoo
Melanoma of the eye is rare, but can mimic a range of disorders. This report highlights 2 cases of choroidal melanoma with vision loss mimicking neurological diagnoses. The first patient is a 41-year-old white male with a known history of multiple sclerosis and a previous episode of optic neuritis in the right eye, who presented with a 6-month history of decreased vision in the same eye, and occasional photopsiae. He was treated with 2 courses of oral steroids for presumed recurrent optic neuritis. After a temporary improvement in his symptoms, his vision worsened, following which he had a head MRI, which revealed a solid intraocular mass...
January 2017: Case Reports in Neurology
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