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case history in neurology

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https://www.readbyqxmd.com/read/28815739/kernicterus-in-a-boy-with-ornithine-transcarbamylase-deficiency-a-case-report
#1
Eduardo López-Corella, Isabel Ibarra-González, Cynthia Fernández-Lainez, Miguel Á Rodríguez-Weber, Sara Guillén-Lopez, Leticia Belmont-Martínez, David Agüero-Linares, Marcela Vela-Amieva
Ornithine transcarbamylase deficiency (OTCD) is an X-linked urea cycle defect associated with severe and usually fatal hyperammonemia. This study describes a patient with early onset lethal OTCD due to a known pathogenic variant (c.298+1G>A), as well as the novel autopsy finding of kernicterus with relatively low blood concentration of unconjugated bilirubin (UCB) (11.55 mg/dL). The patient was a full-term male with a family history of two previous male siblings who died as newborns after acute neurologic deterioration...
August 16, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28814874/la-belle-indiff%C3%A3-rence-revisited-a-case-report-on-progressive-supranuclear-palsy-misdiagnosed-as-conversion-disorder
#2
Petra J van Meerkerk-Aanen, Lars de Vroege, David Khasho, Aziza Foruz, J Thies van Asseldonk, Christina M van der Feltz-Cornelis
BACKGROUND: Since the advent of computed tomography and magnetic resonance imaging scans, neurological disorders have less often been falsely labeled as conversion disorder (CD). However, misdiagnosis of a neurological disorder as CD still occurs, especially in cases with insidious onset. Misinterpretation of la belle indifférence may contribute to such misdiagnosis. Here, we describe a case of progressive supranuclear palsy/Richardson's syndrome (PSPS) misdiagnosed as a case of CD. CASE: A 62-year-old woman consulted two different neurologists in 2012 because of falling spells since 2009 and was diagnosed with CD...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28813773/a-case-of-ivig-induced-aseptic-chemical-meningitis
#3
Anish Patel, Kalyan Chakravarthy Potu, Tamera Sturm
Intravenous immunoglobulin (IVIG) is a commonly used and generally well-tolerated medication. Common side effects include flu-like symptoms such as fevers, headaches, myalgia, fatigue, and nausea. One of the more rare side effects is aseptic meningitis, with a reported incidence rate of around 0.067 percent of all IVIG infusions. In this paper, we describe a 47-year-old female patient with a history of myasthenia gravis who presented with a headache, neck pain, and neck stiffness while undergoing IVIG infusions for a myasthenia crisis...
March 2017: South Dakota Medicine: the Journal of the South Dakota State Medical Association
https://www.readbyqxmd.com/read/28811813/osteonecrosis-in-the-both-femoral-heads-in-a-patient-with-neuro-behcet-s-disease
#4
Asuman Orhan Varoglu, Asude Aksoy
Neuro-Behçet's disease (NBD) is a rare clinical entity that frequently presents neuro-psychiatric symptoms, and mesodiencephalic and pontobulbar lesions. There is only one published report about osteonecrosis in NBD. We report a patient whose first presentation was neurological NBD with presenting bilateral femoral heads osteonecrosis. A 36-year-old male was hospitalized with gait disorder, diplopia and speech disorder. The past medical history of the patient was unremarkable. The MR image showed mesencephalic lesion with oedemaas a hyperintense area...
May 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28805273/neurotoxicosis-in-horses-associated-with-consumption-of-trema-micrantha
#5
M P Lorenzett, P R Pereira, D M Bassuino, G Konradt, W Panziera, M V Bianchi, F F Argenta, M E Hammerschmitt, R A Caprioli, C S L de Barros, S P Pavarini, D Driemeier
BACKGROUND: Trema micrantha is a tree widely distributed throughout the Americas. The tree produces highly palatable leaves that have been associated with natural poisoning in goats, sheep and horses, in which hepatic necrosis and hepatic encephalopathy have been observed. OBJECTIVES: This study describes malacia and haemorrhage in the central nervous system due to T. micrantha consumption, with minimal to absent hepatic lesions. STUDY DESIGN: Retrospective case series...
August 14, 2017: Equine Veterinary Journal
https://www.readbyqxmd.com/read/28804760/autopsy-case-of-the-c12orf65-mutation-in-a-patient-with-signs-of-mitochondrial-dysfunction
#6
Hideaki Nishihara, Masatoshi Omoto, Masaki Takao, Yujiro Higuchi, Michiaki Koga, Motoharu Kawai, Hiroo Kawano, Eiji Ikeda, Hiroshi Takashima, Takashi Kanda
OBJECTIVE: To describe the autopsy case of a patient with a homozygous 2-base deletion, c171_172delGA (p.N58fs), in the C12orf65 gene. METHODS: We described the clinical history, neuroimaging data, neuropathology, and genetic analysis of the patients with C12orf65 mutations. RESULTS: The patient was a Japanese woman with a history of delayed psychomotor development, primary amenorrhea, and gait disturbance in her 20s. She was hospitalized because of respiratory failure at the age of 60...
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28801086/slowly-progressive-leukodystrophy-in-an-adolescent-male-with-phosphoglycerate-kinase-deficiency
#7
Shimpei Baba, Ayumi Kobayashi, Haruna Yokoyama, Kengo Moriyama, Ayako Kashimada, Jun Oyama, Ayako Owada, Shoichi Oyama, Tomohiro Morio, Masatoshi Takagi
We report the case of an 18-year-old man with a phosphoglycerate kinase (PGK) deficiency who had slowly progressive leukodystrophy during adolescence. The patient had a history of severe neonatal jaundice, hemolytic crisis with rhabdomyolysis triggered by febrile viral infections, dysarthria, and intellectual disability during early childhood. Clumsiness in walking and writing became obvious at ∼10years of age. Evaluations performed by us on the 18-year-old patient confirmed the presence of pyramidal tract signs, increased muscle tone, and generalized dystonia...
August 8, 2017: Brain & Development
https://www.readbyqxmd.com/read/28800746/artery-of-percheron-infarction-a-case-report
#8
Axel Sandvig, Sandra Lundberg, Jiri Neuwirth
BACKGROUND: The artery of Percheron is a rare anatomic variant of arterial supply to the paramedian thalamus and rostral midbrain, and occlusion of the artery of Percheron results in bilateral paramedian thalamic infarcts with or without midbrain involvement. Acute artery of Percheron infarcts represent 0.1 to 2% of total ischemic stroke. However, of thalamic strokes, occlusion of artery of Percheron is the cause in 4 to 35% of cases. Early diagnosis of artery of Percheron infarction can be challenging because it is infrequent and early computed tomography or magnetic resonance imaging may be negative...
August 12, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28799558/intermittent-mydriasis-associated-with-carotid-vascular-occlusion
#9
P D Chamberlain, A Sadaka, S Berry, A G Lee
PurposeTo describe two cases of stereotyped, intermittent, neurologically isolated, unilateral mydriasis in patients with a history of acquired internal carotid artery (ICA) occlusive disease on the ipsilateral side.PatientsTwo patients with intermittent mydriasis.MethodsCase Series.ResultsCase one: A 78-year-old man experienced 10 episodes of intermittent, unilateral, and painless mydriasis in the left eye and had 100% occlusion of the left ICA artery due to atherosclerotic disease. Case two: A 26-year-old woman with history of migraine developed new painless, intermittent episodes of unilateral mydriasis after sustaining chest trauma and was diagnosed with subsequent dissection and 65% occlusion of the ipsilateral ICA...
August 11, 2017: Eye
https://www.readbyqxmd.com/read/28799303/clinical-profile-of-dysphagia-in-patients-with-parkinson-s-disease-progressive-supranuclear-palsy-and-multiple-system-atrophy
#10
Sulena, Dipti Gupta, Anjani Kumar Sharma, Baltej Singh
BACKGROUND: Swallowing changes are commonly observed in Parkinson's and Parkinsonism plus syndromes. Expeditious identification is necessary to provide early intervention in this population to avoid risk of aspiration and swallowing complications. OBJECTIVE: To investigate swallowing problems using detailed case history and swallowing speed on 3 ounce water test in three groups i.e. PD, MSA and PSP groups and further, to compare it with control group. SUBJECT AND METHODS: Cross sectional study design...
August 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28799142/what-to-do-in-failed-hemispherotomy-our-clinical-series-and-review-of-the-literature
#11
REVIEW
Andrea Bartoli, Y El Hassani, B Jenny, S Momjian, C M Korff, M Seeck, S Vulliemoz, K Schaller
Hemispherotomy is an established surgical technique to cure or palliate selected, mostly young patients suffering from refractory epilepsy. However, a few patients continue to have seizures despite the surgical hemispherical disconnection. We present a case series of patients who underwent redo hemispherotomy after a first unsuccessful hemispherical disconnection and provide a roadmap for subsequent workup and treatment. The institutional database of epilepsy surgery was reviewed. Twenty-four patients who underwent hemispherotomies for refractory epilepsy were identified between 2007 and 2016...
August 10, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28798922/practical-approach-to-the-patient-with-acute-neuromuscular-weakness
#12
REVIEW
Rajeev Nayak
Acute neuromuscular paralysis (ANMP) is a clinical syndrome characterized by rapid onset muscle weakness progressing to maximum severity within several days to weeks (less than 4 wk). Bulbar and respiratory muscle weakness may or may not be present. It is a common neurological emergency which requires immediate and careful investigations to determine the etiology because accurate diagnosis has significant impact on therapy and prognosis. Respiratory failure caused by neuromuscular weakness is considered as more critical than lung disease because its development may be insidious or subtle until sudden decompensation leads to life threatening hypoxia...
July 16, 2017: World Journal of Clinical Cases
https://www.readbyqxmd.com/read/28798785/simultaneous-vertebral-and-subclavian-artery-stenting
#13
Damian R Maciejewski, Łukasz Tekieli, Roman Machnik, Anna Kabłak-Ziembicka, Tadeusz Przewłocki, Piotr Paluszek, Mariusz Trystuła, Robert Musiał, Karolina Dzierwa, Piotr Pieniążek
INTRODUCTION: Vertebrobasilar territory ischemia leads to disabling neurological symptoms and may be caused both by vertebral artery (VA) and subclavian artery (SA) stenosis. The coexisting symptomatic ipsilateral VA and proximal SA stenosis should be considered as a true bifurcation lesion for percutaneous treatment. AIM: To evaluate the safety and efficacy of simultaneous angioplasty of vertebral and subclavian stenosis. MATERIAL AND METHODS: Fifteen patients (age 69...
2017: Postępy W Kardiologii Interwencyjnej, Advances in Interventional Cardiology
https://www.readbyqxmd.com/read/28797005/gamma-knife-radiosurgery-for-cavernous-sinus-meningiomas-analysis-of-outcome-in-166-patients
#14
Maziar Azar, Farid Kazemi, Amin Jahanbakhshi, Iran Chanideh, Maryam Jalessi, Elahe Amini, Ghazale Geraily, Mohammad Farhadi
OBJECTIVES: The outcomes of Gamma Knife radiosurgery (GKRS) for cavernous sinus meningioma (CSM) are presented, and factors possibly affecting outcome are investigated. METHODS: The medical records and imaging and procedural reports of 166 patients with CSM were retrospectively reviewed. Demographic data, procedural data, symptomatic improvement, radiological regression, and progression-free survival (PFS) rates were evaluated. RESULTS: There were 124 women and 42 men; including 44 postoperative and 122 primary GKRS cases...
August 11, 2017: Stereotactic and Functional Neurosurgery
https://www.readbyqxmd.com/read/28794966/synthetic-cannabinoid-induced-acute-respiratory-depression-case-series-and-literature-review
#15
Mark Henry Alon, Margaret Olibrice Saint-Fleur
Synthetic Cannabinoids are a street drug that is widely attainable and cheap compared to natural cannabis, and has variable potency and unpredictable effects with no commercially available diagnostic test to confirm its presence. Similar to natural cannabis, Synthetic Cannabinoid intoxication can present in several ways with the most common emergency room presentations to be of neurologic and psychiatric manifestation. The respiratory depressive effect of Synthetic Cannabinoids has not been well documented in medical literature...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/28791286/autoimmune-thrombotic-thrombocytopenic-purpura-two-rare-cases-associated-with-juvenile-idiopathic-arthritis-and-multiple-sclerosis
#16
Despoina Dimopoulou, Athina Dimosiari, Eudokia Mandala, Theodoros Dimitroulas, Alaxandros Garyfallos
Secondary thrombotic microangiopathies are associated with several underlying conditions, with most of them being resolved after the treatment of background disease. Thrombotic thrombocytopenic purpura (TTP) is a rare microangiopathy presenting with anemia, thrombocytopenia, and neurological deficits, occurring most often in various autoimmune diseases due to inhibition of ADAMTS13 by autoantibodies, as well as in pregnant women with or without an autoimmune substrate. In this article, we report two newly diagnosed TTP cases, who have not been published so far...
2017: Frontiers in Medicine
https://www.readbyqxmd.com/read/28791193/spinal-thoracic-extradural-angiolipoma-manifesting-as-acute-onset-of-paraparesis-case-report-and-review-of-literature
#17
Franz Jooji Onishi, Flavio Augusto Sekeff Salem, Diogo Luis de Melo Lins, Rafi Felicio Bauab Dauar, João Norberto Stavale
BACKGROUND: Angiolipomas are benign tumors most commonly found in the thoracic spine. They are composed of mature adipocytes and abnormal vascular elements that usually present with a slowly progressive course of neurological deterioration. CASE DESCRIPTION: A 35-year-old female, with a prior history of back pain, acutely developed paraparesis. When the thoracic magnetic resonance imaging (MRI) revealed a dorsal epidural mass at the T3-T5 level, she underwent a laminectomy for gross total excision of the lesion that proved to be an angiolipoma...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28789642/uremic-encephalopathy-with-isolated-brainstem-involvement-revealed-by-magnetic-resonance-image-a-case-report
#18
Li-Jing Jia, Zhen-Zhen Qu, Xue-Qian Zhang, Yu-Juan Tian, Ying Wang
BACKGROUND: Uremic Encephalopathy (UE) is a neurological complication associated with acute or chronic renal failure. Imaging findings of UE may present involvement of the basal ganglia, cortical or subcortical regions, and white matter. We report a rare case of UE caused by neurogenic bladder with isolated brainstem involvement revealed by magnetic resonance imaging (MRI). Immediate therapy resulted in full recovery of neurological signs and changes on MRI. CASE PRESENTATION: A 14-year-old Han Chinese woman with a history of chronic renal failure caused by neurogenic bladder...
August 8, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28783886/cerebrospinal-vascular-diseases-misdiagnosed-as-decompression-illness-the-importance-of-considering-other-neurological-diagnoses
#19
Kiyotaka Kohshi, Yoshitaka Morimatsu, Hideki Tamaki, Yukio Murata, Katsuko Kohshi, Tatsuya Ishitake, Petar J Denoble
The diagnosis of decompression illness (DCI), which is based on a history of decompression and clinical findings, can sometimes be confounded with other vascular events of the central nervous system. The authors report three cases of divers who were urgently transported to a hyperbaric facility for hyperbaric oxygen treatment of DCI which at admission turned out to be something else. The first case, a 45-year-old experienced diver with unconsciousness, was clinically diagnosed as having experienced subarachnoid hemorrhage, which was confirmed by CT scan...
July 2017: Undersea & Hyperbaric Medicine: Journal of the Undersea and Hyperbaric Medical Society, Inc
https://www.readbyqxmd.com/read/28777180/sleep-wake-disorders-of-childhood
#20
Suresh Kotagal
PURPOSE OF REVIEW: Sleep-wake disorders occur in 10% to 28% of children and differ somewhat in pathophysiology and management from sleep-wake disorders in adults. This article discusses the diagnosis and management of key childhood sleep disorders. RECENT FINDINGS: The role of sleep in memory consolidation and in the facilitation of learning has been increasingly recognized, even at the toddler stage. Cataplexy, a key feature of narcolepsy type 1, may be subtle in childhood and characterized by transient muscle weakness isolated to the face...
August 2017: Continuum: Lifelong Learning in Neurology
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