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https://www.readbyqxmd.com/read/29222831/a-review-of-structural-brain-abnormalities-in-pallister-killian-syndrome
#1
Cathryn Poulton, Gareth Baynam, Clarissa Yates, Hamid Alinejad-Rokny, Simon Williams, Helen Wright, Karen J Woodward, Soruba Sivamoorthy, Joanne Peverall, Peter Shipman, David Ravine, John Beilby, Julian Ik-Tsen Heng
BACKGROUND: Pallister-Killian syndrome (PKS) is a rare multisystem developmental syndrome usually caused by mosaic tetrasomy of chromosome 12p that is known to be associated with neurological defects. METHODS: We describe two patients with PKS, one of whom has bilateral perisylvian polymicrogyria (PMG), the other with macrocephaly, enlarged lateral ventricles and hypogenesis of the corpus callosum. We have also summarized the current literature describing brain abnormalities in PKS...
December 9, 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29221912/variable-clinical-phenotype-in-two-siblings-with-aicardi-gouti%C3%A3-res-syndrome-type-6-and-a-novel-mutation-in-the-adar-gene
#2
Lisa Schmelzer, Martin Smitka, Christine Wolf, Nadja Lucas, Victoria Tüngler, Gabriele Hahn, Andreas Tzschach, Nataliya Di Donato, Min Ae Lee-Kirsch, Maja von der Hagen
Aicardi-Goutières syndrome (AGS) is a hereditary inflammatory encephalopathy resulting in severe neurological damage in the majority of cases. We report on two siblings with AGS6 due to compound heterozygosity for a known and a novel mutation in the ADAR gene and a strikingly variable phenotype. The first sibling presented at 12 months of age with a subacute encephalopathy following a mild respiratory infection. The child developed a spastic tetraparesis, generalized dystonia and dysarthria. In contrast, the younger sibling presented with an acute episode of neurological impairment in his third year of life, from which he recovered without sequelae within a few weeks...
November 22, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29221755/unilateral-brachial-plexopathy-a-rare-complication-of-mycoplasma-pneumoniae-infection
#3
Barbara Robnik, Darja Keše, Tereza Rojko, Alenka Horvat-Ledinek, Aleš Pražnikar, Bojana Beović
Few reports in the literature describe isolated peripheral neuropathies in relation to Mycoplasma pneumoniae infection without concurrent damage to the central nervous system. To our knowledge only a single case of mononeuritis multiplex with brachial plexus neuropathy coincident with M. pneumoniae has been documented until now. Here we present the first clinical case of lobar M. pneumoniae pneumonia in a 19-year-old female patient, where coincident neurological complications manifested as unilateral brachial plexus neuropathy, affecting axillar and suprascapular nerves...
December 5, 2017: Journal of Infection and Chemotherapy: Official Journal of the Japan Society of Chemotherapy
https://www.readbyqxmd.com/read/29221687/leptomeningeal-carcinomatosis-in-colorectal-cancer-the-mayo-clinic-experience
#4
Gretchen Taylor, Nina Karlin, Thorvardur R Halfdanarson, Kyle Coppola, Axel Grothey
BACKGROUND: Leptomeningeal metastasis (LM) is an uncommon form of metastatic disease in many cancers. There remains a paucity of literature with regard to the course and management of LM in colorectal cancers (CRCs). The aim of this study was to estimate the incidence of LM in patients with CRC seen at our institution over a 15-year period, and to describe the clinical course and outcome of these cases. METHODS: LM in CRC primary cases between 2000 and 2014 were identified in the Mayo Clinic databases...
November 21, 2017: Clinical Colorectal Cancer
https://www.readbyqxmd.com/read/29219753/resection-of-primary-motor-cortex-tumors-feasibility-and-surgical-outcomes
#5
Stephen T Magill, Seunggu J Han, Jing Li, Mitchel S Berger
OBJECTIVE Brain tumors involving the primary motor cortex are often deemed unresectable due to the potential neurological consequences that result from injury to this region. Nevertheless, we have challenged this dogma for many years and used asleep, as well as awake, intraoperative stimulation mapping to maximize extent of resection. It remains unclear whether these tumors can be resected with acceptable morbidity, whether performing the surgery with the patient awake or asleep impacts extent of resection, and how stimulation mapping influences outcomes...
December 8, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/29218392/unusual-circumstances-to-diagnose-cervical-pott-s-disease
#6
Mohamed Ali Kedous, Ahmed Msakni, Wael Chebbi, Mourad Zaraa, Mohsen Trabelsi
Tuberculous spondylodiscitis usually affects the dorso-lumbar spine, and its cervical location is a rare condition that can mimic other diseases and consequently cause treatment delays. We report a case of tuberculous spondylodiscitis of the lower cervical spine discovered under unusual circumstances in a patient with severe polytrauma involving a cranio-cerebral trauma, a non-displaced fracture of the two laminæ and the spinous process of the C6 vertebrae as well as fibular and tibial shaft fractures. The patient underwent static tibial nailing, and a collar with occipital and chin supports was applied...
December 7, 2017: Skeletal Radiology
https://www.readbyqxmd.com/read/29218261/bilateral-occipital-lobe-hemorrhages-presenting-as-denial-of-blindness-in-posterior-reversible-encephalopathy-syndrome-a-rare-combination-of-anton-syndrome-and-encephalopathy
#7
Raja Godasi, Chintan Rupareliya, Pradeep C Bollu
Posterior reversible encephalopathy syndrome (PRES) or reversible posterior leukoencephalopathy (RPL) is an acute neurological syndrome characterized by the development of radiological abnormalities on brain imaging along with clinical manifestations, such as a headache, seizures, encephalopathy, etc. We report the case of a middle-aged male who presented to the emergency department after he woke up with complete blindness and was found to have hemorrhagic PRES. Intracranial hemorrhages were seen in around 15% of patients who presented with this condition...
October 4, 2017: Curēus
https://www.readbyqxmd.com/read/29217500/peripheral-neuropathy-as-a-complication-of-diabetic-ketoacidosis-in-a-child-with-newly-diagnosed-diabetes-type-1-case-report
#8
Marta Baszyńska-Wilk, Marta Wysocka-Mincewicz, Anna Świercz, Jolanta Świderska, Magdalena Marszał, Mieczysław Szalecki
BACKGROUND: Neurological complications of diabetic ketoacidosis are considered to be very serious clinical problem. The most common complication is cerebral edema. However this group includes also less common syndromes such as ischemic or hemorrhagic stroke, cerebral venous and sinus thrombosis or very rare peripheral neuropathy. CASE REPORT: We present a case of 9-year old girl with new onset type 1 diabetes, diabetic ketoacidosis, cerebral edema, multifocal vasogenic brain lesions and lower limbs peripheral paresis...
December 8, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29216530/brain-angiometastasis-from-a-non-seminomatous-germ-cell-tumor-a-case-report
#9
Alejandro Monroy-Sosa, Gervith Reyes-Soto, Bernardo Cacho-Díaz, Martín Granados-García, Allan Hernández Estrada, Ana María Cano-Valdez, Ángel Herrera-Gómez
INTRODUCTION: Brain metastasis from non-seminomatous germ cell tumors (NSGCT) is rare. Herein, we describe the second reported case of brain metastasis from a NSGCT with high-flow arteriovenous (AV) shunts, and propose a novel surgical treatment plan. CLINICAL CASE: The patient was a 34-year-old male who presented with hemiparesis and hemianesthesia. Magnetic resonance angiography revealed three vascular lesions with afferent vessels and efferent vessels. Angiography displayed two high-flow AV shunts...
December 2, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29214092/pyogenic-odontoid-osteomyelitis-with-sinus-thrombosis
#10
Rohit Aiyer, Janice Hwang, Edward H Yu
71/F presented with left sided headaches and neck pain with nuchal rigidity progressively worsening over 3 weeks with no other neurologic symptoms. Odontoid osteomyelitis with epidural abscess was discovered on further workup with neuroimaging. Concurrent jugular vein and transverse sinus venous thrombosis was also found and suspected to be secondary to the pyogenic odontoid osteomyelitis. Patient was treated with intravenous antibiotics for the osteomyelitis as well as intravenous heparin for the venous thrombosis...
2017: Case Reports in Radiology
https://www.readbyqxmd.com/read/29214049/latent-autoimmune-diabetes-of-adulthood-case-report
#11
Cristen P Page, Brian Fitzgerald, Emily M Hawes
Background: Primary care clinicians will see a higher incidence of type 2 diabetes in adult patients, and the diagnosis and management of an initial presentation of type 1 diabetes can pose challenges to clinicians who see it less frequently. Symptoms of hyperglycemia and risk of ketoacidosis may be missed. Further, endocrine autoimmune disease can run together in patients and families. Case presentation: A 49-year-old Caucasian female with history of pituitary adenoma and Graves' disease with history of thyroid ablation presented in the outpatient setting due to hand tingling of her right middle finger that was worse in the mornings and improved throughout the day...
2017: Clinical Diabetes and Endocrinology
https://www.readbyqxmd.com/read/29213529/therapeutic-effect-of-transcranial-direct-current-stimulation-on-neuropsychological-symptoms-of-an-elderly-patient-a-case-report
#12
Aline Iannone, Joaquim Brasil-Neto, Antonio Pedro Mello Cruz, Corina Satler, Nasser Allam
Although growing evidence points to the potential therapeutic effects of transcranial Direct Current Stimulation (tDCS), there is still no consensus on the most appropriate protocol to be used in specific neurological and neuropsychological symptoms. This case report evaluated the neuromodulatory therapeutic effects of two 15-day courses of tDCS on an elderly female patient, aged 78 years with mild neurocognitive disorder, chronic pain and depression-related symptoms. Results indicated an overall significant improvement of cognitive and executive functions, as well as reduction in both depression and chronic pain symptoms...
July 2017: Dementia & Neuropsychologia
https://www.readbyqxmd.com/read/29213523/mild-cognitive-impairment-mci-and-dementia-in-a-sample-of-adults-in-the-city-of-bogot%C3%A3
#13
Olga Lucia Pedraza, Ana Maria Salazar Montes, Fabio Alexander Sierra, Maria Camila Montalvo, Yolanda Muñoz, Jose Miguel Díaz, Angela Lozano, Cesar Piñeros
The low prevalence of dementia described in communities is likely due to the low sensitivity of screening tests and an absence of evaluation by specialists. OBJECTIVE: To estimate the prevalence of mild cognitive impairment (MCI) and dementia in adults older than 50 years. METHODS: A two-phase, cross-sectional study was conducted by specialists to evaluate cognition and associated demographic risk factors in 1,235 independent community-dwelling adults from Bogotá...
July 2017: Dementia & Neuropsychologia
https://www.readbyqxmd.com/read/29213515/rehabilitation-in-severe-memory-deficit-a-case-study
#14
Nariana Mattos Figueiredo Sousa
The term amnesia refers to a pathological state of mind in which memory and learning are affected to a greater extent than other cognitive functions in a patient without altered level of consciousness. The aim of the current study was to describe a case of severe amnesia in a patient during neurological rehabilitation and to report the importance of preserved cognitive functions to compensate for the mnemonic deficit. VJA presented a clinical condition suggestive of encephalopathy due to caloric-protein malnutrition following several abdominal surgical procedures for complicated choledocholithiasis...
April 2017: Dementia & Neuropsychologia
https://www.readbyqxmd.com/read/29213514/catatonia-beyond-a-psychiatric-syndrome
#15
Nathália Stela Visoná de Figueiredo, Débora Bartzen Moraes Angst, Antônio de Matos Lima Neto, Michel Ferreira Machado, Maria Sheila Guimarães Rocha, Sônia Maria Dozzi Brucki
Although catatonia is a well-known psychiatric syndrome, there are many possible systemic and neurological etiologies. The aim of this case report was to present a case of a patient with cerebral venous sinus thrombosis and infarction in which catatonia was the clinical manifestation of a possible nonconvulsive status epilepticus. To our knowledge, only one such case has been reported in the literature, which had a simplified diagnostic investigation. It is important to correctly recognize the organic cause underlying catatonia in order to treat the patient as soon as possible thereby improving outcome...
April 2017: Dementia & Neuropsychologia
https://www.readbyqxmd.com/read/29213512/transient-gerstmann-syndrome-as-manifestation-of-stroke-case-report-and-brief-literature-review
#16
Rafael Batista João, Raquel Mattos Filgueiras, Marcelo Lucci Mussi, João Eliezer Ferri de Barros
Gerstmann Syndrome (GS) is a rare neurological condition described as a group of cognitive changes corresponding to a tetrad of symptoms comprising agraphia, acalculia, right-left disorientation and finger agnosia. It is known that some specific brain lesions may lead to such findings, particularly when there is impairment of the angular gyrus and adjacent structures. In addition, the possibility of disconnection syndrome should be considered in some cases. The purpose of this article is to report a case of a young, cardiac patient, non-adherent to treatment, who presented with a stroke in which transient clinical symptoms were compatible with the tetrad of GS...
April 2017: Dementia & Neuropsychologia
https://www.readbyqxmd.com/read/29213169/clinical-profile-of-neural-tube-defects-in-sudanese-children-is-malaria-a-risk-factor
#17
Basma Sadik, Haydar E Babikir, Mohammed A R Arbab
Neural tube defects (NTDs) are one of the most common structural malformations in human kind. It is a public health problem with great impact on the child, parents and the community at large. The aim is to study the epidemiological profile and patterns of NTDs in under five-year of age Sudanese children who attended the neurosurgical clinic at the National Centre of Neurological Sciences (NCNS), Khartoum during the period from March 2014 to December 2014. This was a prospective cross-sectional study conducted at the neurosurgery clinic in NCNS, Khartoum...
2017: Sudanese Journal of Paediatrics
https://www.readbyqxmd.com/read/29212461/widespread-enlarged-perivascular-spaces-associated-with-dementia-and-focal-brain-dysfunction-case-report
#18
Daisuke Taniguchi, Hideki Shimura, Masao Watanabe, Nobutaka Hattori, Takao Urabe
BACKGROUND: Enlarged perivascular spaces (PVS) are common magnetic resonance imaging (MRI) findings, whereas widespread enlarged PVS are extremely rare. Although most patients with widespread enlarged PVS remain asymptomatic, some develop neurological dysfunctions; however, it remains unclear whether these are the consequence of widespread enlarged PVS. CASE PRESENTATION: A 64-year-old female patient developed consciousness disturbance, cognitive dysfunctions, fluent aphasia, agraphia, acalculia, and left-right disorientation after suffering from bronchopneumonia...
December 7, 2017: BMC Neurology
https://www.readbyqxmd.com/read/29211821/elizabethkingia-in-children-a-comprehensive-review-of-symptomatic-cases-reported-from-1944-2017
#19
Eric J Dziuban, Jessica Franks, Marvin So, Georgina Peacock, David D Blaney
Elizabethkingia species often exhibit extensive antibiotic resistance and result in high morbidity and mortality, yet no systematic reviews exist that thoroughly characterize and quantify concerns for infected infants and children. We performed a review of literature and identified an initial 902 articles; 96 articles reporting 283 pediatric cases met our inclusion criteria and were subsequently reviewed. Case reports spanned 28 countries and ranged from 1944 to 2017. Neonatal meningitis remains the most common presentation of this organism in children, along with a range of other clinical manifestations...
December 2, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/29210346/serious-neurological-adverse-events-after-ivermectin-do-they-occur-beyond-the-indication-of-onchocerciasis
#20
Rebecca E Chandler
Serious neurological adverse events have been reported from large scale community-based ivermectin treatment campaigns against Onchocerciasis volvulus in Africa. The mechanism of these events has been debated in the literature, largely focusing on the role of concomitant infection with Loa loa versus the presence of mdr-1 gene variants in humans allowing ivermectin penetration into the central nervous system. A case series of serious neurological adverse events occurring with the use of ivermectin outside of the onchocerciasis indication has been identified in VigiBase, an international database of suspected adverse drug reactions...
December 4, 2017: American Journal of Tropical Medicine and Hygiene
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