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Neurology

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112 papers 25 to 100 followers
https://www.readbyqxmd.com/read/20722665/doose-syndrome-myoclonic-astatic-epilepsy-40-years-of-progress
#1
REVIEW
Sarah A Kelley, Eric H Kossoff
Doose syndrome, otherwise traditionally known as myoclonic-astatic epilepsy, was first described as a unique epilepsy syndrome by Dr Hermann Doose in 1970. In 1989, the International League Against Epilepsy classified it formally as a symptomatic generalized epilepsy, and 20 years later it was renamed 'epilepsy with myoclonic-atonic seizures'. In this review, we discuss the components of this unique disorder including its incidence, clinical features, and electroencephalographic findings. Recent evidence has suggested possible genetic links to the GEFS+ (generalized epilepsy with febrile seizures plus) family, and, additionally, some children with structural brain lesions can mimic the Doose syndrome phenotype...
November 2010: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29017677/artery-of-percheron-infarct-ararity-not-to-be-missed
#2
Farheen Niazi, Sameen Bin Naeem
Artery of Percheron (AOP) is a rare vascular variant of posterior cerebral circulation and it supplies blood to the bilateral paramedian thalami and the rostral midbrain. Artery of Percheron infarct requires a comprehensive clinical and radiological examination. It can be easily overlooked due to normal CTfindings and wide range of differential diagnosis. Classic triad of presentation is altered mental status, memory impairment and the vertical gaze palsy. We report a case of a 66-year female who had sudden onset of severe vertigo, diplopia and ataxia...
September 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/29054862/current-evidence-based-recommendations-on-investigating-children-with-global-developmental-delay
#3
REVIEW
Renuka Mithyantha, Rachel Kneen, Emma McCann, Melissa Gladstone
INTRODUCTION: Global developmental delay (GDD) affects 1%-3% of the population of children under 5 years of age, making it one of the most common conditions presenting in paediatric clinics; causes are exogenous, genetic (non-metabolic) or genetic (metabolic). Recent advances in biotechnology and genetic testing mean that the investigations available to perform for children under 5 years are increasing and are more sensitive than previously. This change in availability and type of testing necessitates an update in the recommendations for investigating GDD...
November 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28522451/ada2-deficiency-dada2-as-an-unrecognised-cause-of-early-onset-polyarteritis-nodosa-and-stroke-a-multicentre-national-study
#4
MULTICENTER STUDY
Roberta Caorsi, Federica Penco, Alice Grossi, Antonella Insalaco, Alessia Omenetti, Maria Alessio, Giovanni Conti, Federico Marchetti, Paolo Picco, Alberto Tommasini, Silvana Martino, Clara Malattia, Romina Gallizi, Rosa Anna Podda, Annalisa Salis, Fernanda Falcini, Francesca Schena, Francesca Garbarino, Alessia Morreale, Manuela Pardeo, Claudia Ventrici, Chiara Passarelli, Qing Zhou, Mariasavina Severino, Carlo Gandolfo, Gianluca Damonte, Alberto Martini, Angelo Ravelli, Ivona Aksentijevich, Isabella Ceccherini, Marco Gattorno
OBJECTIVES: To analyse the prevalence of CECR1 mutations in patients diagnosed with early onset livedo reticularis and/or haemorrhagic/ischaemic strokes in the context of inflammation or polyarteritis nodosa (PAN). Forty-eight patients from 43 families were included in the study. METHODS: Direct sequencing of CECR1 was performed by Sanger analysis. Adenosine deaminase 2 (ADA2) enzymatic activity was analysed in monocyte isolated from patients and healthy controls incubated with adenosine and with or without an ADA1 inhibitor...
October 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/6149233/the-jittery-newborn-and-infant-a-review
#5
REVIEW
N P Rosman, J H Donnelly, M A Braun
Jitteriness is an involuntary movement that is particularly frequent in the newborn. Its hallmark is tremor. The pathogenesis is poorly understood. Jitteriness is often accompanied by other signs of central nervous system excitation, such as hypermotility, hypertonicity, and ease of startle. It must be differentiated from myoclonus and seizure, although they may coexist. Jitteriness can be caused by a variety of pre-, peri-, and postnatal insults, and it is the nature and treatability of these, rather than the tremor itself, that are the major determinants of the ultimate prognosis...
October 1984: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/1875026/jitteriness-beyond-the-neonatal-period-a-benign-pattern-of-movement-in-infancy
#6
A Shuper, J Zalzberg, R Weitz, M Mimouni
Jitteriness is a frequent, well-recognized phenomenon in neonates. Its occurrence in early infancy, beyond the neonatal period, is much less documented. Thirty-eight full-term infants who were jittery after 6 weeks of age were followed until the jitteriness disappeared and then reevaluated at the age of 3 years. The jittery movements had already been observed during the neonatal period in 16 babies but not before 6 weeks of age in 22. In 34 infants (89%), 1- and 5-minute Apgar scores were 9 or 10. At the initial examination, a mildly increased muscle tone was found in 12 infants, and hyperactive deep-tendon reflexes were found in 19...
July 1991: Journal of Child Neurology
https://www.readbyqxmd.com/read/28771404/benign-neonatal-shudders-shivers-jitteriness-or-tremors-early-signs-of-vitamin-d-deficiency
#7
Millicent Collins, Michal Young
Jitteriness and tremors in the newborn period typically precipitate an extensive, invasive, and expensive search for the etiology. Vitamin D deficiency has not been historically included in the differential of tremors. We report a shivering, jittery newborn who was subjected to a battery of testing, with the only biochemical abnormality being vitamin D deficiency. A second case had chin tremors and vitamin D deficiency. Review of our patients suggests that shudders, shivers, jitteriness, or tremors may be the earliest sign of vitamin D deficiency in the newborn...
August 2017: Pediatrics
https://www.readbyqxmd.com/read/28904568/pediatric-autoimmune-encephalitis
#8
REVIEW
Massimo Barbagallo, Giovanna Vitaliti, Piero Pavone, Catia Romano, Riccardo Lubrano, Raffaele Falsaperla
Autoimmune (antibody mediated) encephalitis (AE) is emerging as a more common cause of pediatric encephalopathy than previously thought. The autoimmune process may be triggered by an infection, vaccine, or occult neoplasm. In the latter case, onconeural autoantibodies are directed against intracellular neuronal antigens, but a recent heterogeneous group of encephalitic syndromes has been found not to have underlying tumor but is associated with autoantibodies to the neuronal surface or synaptic antigens. Neuropsychiatric symptoms are very common in autoimmune encephalopathy; as a result, affected children may be initially present to psychiatrists...
April 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28870420/value-of-protein-concentration-in-cerebrospinal-fluid-in-paediatric-patients-with-guillain-barre-syndrome
#9
Martha Esther Vidrio-Becerra, Jaime Valle-Leal, María Enriqueta Loaiza-Sarabia, Lucia Alvarez-Bastidas, Jesus Ignacio Lachica-Valle, Cruz Mónica López-Morales
INTRODUCTION AND OBJECTIVE: The albumin-cytologic dissociation in cerebrospinal fluid (CSF) supports the diagnosis of Guillain-Barre syndrome (GBS) but does not support the prognosis, so the aim of this study is to determine the usefulness of protein numbers in the CSF to predict progression in paediatric patients. PATIENTS AND METHODS: A diagnostic test was performed in paediatric patients with GBS, analysing sociodemographic, clinical and protein variables in CSF as well as electromyography...
September 1, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28861122/the-role-of-natalizumab-in-the-treatment-of-multiple-sclerosis-benefits-and-risks
#10
REVIEW
Barry A Singer
Natalizumab, a monoclonal antibody that blocks lymphocyte infiltration in the central nervous system, is a valuable tool in the treatment of relapsing forms of multiple sclerosis (MS). In a phase III clinical trial comparing natalizumab with placebo over 2 years, natalizumab reduced annualized relapse rate by 68%, 12-week confirmed disability progression by 42%, and reduced contrast-enhancing lesions by 92%. In post hoc analyses, natalizumab treatment was associated with 37% of patients achieving no evidence of disease activity (versus 7% on placebo) and 30% achieving sustained disability improvement (versus 19% on placebo)...
September 2017: Therapeutic Advances in Neurological Disorders
https://www.readbyqxmd.com/read/28827979/trigeminal-neuralgia-glossopharyngeal-neuralgia-and-myofascial-pain-dysfunction-syndrome-an-update
#11
REVIEW
Mohammad Khan, Shamima Easmin Nishi, Siti Nazihahasma Hassan, Md Asiful Islam, Siew Hua Gan
Neuropathic pain is a common phenomenon that affects millions of people worldwide. Maxillofacial structures consist of various tissues that receive frequent stimulation during food digestion. The unique functions (masticatory process and facial expression) of the maxillofacial structure require the exquisite organization of both the peripheral and central nervous systems. Neuralgia is painful paroxysmal disorder of the head-neck region characterized by some commonly shared features such as the unilateral pain, transience and recurrence of attacks, and superficial and shock-like pain at a trigger point...
2017: Pain Research & Management: the Journal of the Canadian Pain Society
https://www.readbyqxmd.com/read/28638987/leukodystrophies-a-proposed-classification-system-based-on-pathological-changes-and-pathogenetic-mechanisms
#12
REVIEW
Marjo S van der Knaap, Marianna Bugiani
Leukodystrophies are genetically determined disorders characterized by the selective involvement of the central nervous system white matter. Onset may be at any age, from prenatal life to senescence. Many leukodystrophies are degenerative in nature, but some only impair white matter function. The clinical course is mostly progressive, but may also be static or even improving with time. Progressive leukodystrophies are often fatal, and no curative treatment is known. The last decade has witnessed a tremendous increase in the number of defined leukodystrophies also owing to a diagnostic approach combining magnetic resonance imaging pattern recognition and next generation sequencing...
June 21, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/27629089/a-genome-wide-association-study-in-multiple-system-atrophy
#13
MULTICENTER STUDY
Anna Sailer, Sonja W Scholz, Michael A Nalls, Claudia Schulte, Monica Federoff, T Ryan Price, Andrew Lees, Owen A Ross, Dennis W Dickson, Kin Mok, Niccolo E Mencacci, Lucia Schottlaender, Viorica Chelban, Helen Ling, Sean S O'Sullivan, Nicholas W Wood, Bryan J Traynor, Luigi Ferrucci, Howard J Federoff, Timothy R Mhyre, Huw R Morris, Günther Deuschl, Niall Quinn, Hakan Widner, Alberto Albanese, Jon Infante, Kailash P Bhatia, Werner Poewe, Wolfgang Oertel, Günter U Höglinger, Ullrich Wüllner, Stefano Goldwurm, Maria Teresa Pellecchia, Joaquim Ferreira, Eduardo Tolosa, Bastiaan R Bloem, Olivier Rascol, Wassilios G Meissner, John A Hardy, Tamas Revesz, Janice L Holton, Thomas Gasser, Gregor K Wenning, Andrew B Singleton, Henry Houlden
OBJECTIVE: To identify genetic variants that play a role in the pathogenesis of multiple system atrophy (MSA), we undertook a genome-wide association study (GWAS). METHODS: We performed a GWAS with >5 million genotyped and imputed single nucleotide polymorphisms (SNPs) in 918 patients with MSA of European ancestry and 3,864 controls. MSA cases were collected from North American and European centers, one third of which were neuropathologically confirmed. RESULTS: We found no significant loci after stringent multiple testing correction...
October 11, 2016: Neurology
https://www.readbyqxmd.com/read/28735675/treatment-of-narcolepsy-and-other-organic-hypersomnias-in-children
#14
REVIEW
Suresh Kotagal
The comprehensive management of chronic disorders such as hypersomnias of childhood requires combining life-style changes with rational pharmacotherapy that is based on treating the symptoms that are most bothersome, the age, comorbidities, and metabolic and endocrine status of the patient. The excessive sleepiness of narcolepsy and idiopathic hypersomnia is best treated with dextroamphetamine or methylphenidate preparations or modafinil/armodafinil. Cataplexy treatment requires sodium oxybate, tricyclic agents, selective norepinephrine reuptake inhibitors or selective serotonin reuptake inhibitors...
June 20, 2017: Paediatric Respiratory Reviews
https://www.readbyqxmd.com/read/28779866/neurological-complications-of-rheumatic-disease
#15
Svetlana Lvovich, Donald P Goldsmith
Rheumatic disease represents a broad spectrum of systemic conditions manifested by multisystem involvement and mediated by autoimmunity and inflammation. Their neurological complications may occur at any point in the disease process and are diagnostically challenging. For years central nervous system (CNS) was considered as a system uniquely protected from effects of the immune system because of the blood-brain barrier. Indeed, under physiological conditions immune access to CNS is tightly regulated. Over the past decade, new scientific discoveries highlighted pathways by which immune and neurological systems interact, including a variety of mechanisms controlling permeability of blood-brain barrier, and specific roles that CD4(+) and CD8(+) T-lymphocytes play in initiation of specific adaptive immune response to neural specific antigens...
February 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28779867/neurological-complications-of-childhood-cancer
#16
Lauren Weaver, Ayman Samkari
Though the treatment of pediatric cancers has come a long way, acute and chronic effects of cancer are still affecting the life of many children. These effects may be caused not only by the malignancy itself but also by the interventions used for the purpose of treatment. This article focuses primarily on the indirect effects of pediatric cancers and their treatment on the central and peripheral nervous system. Chemotherapy, radiation, and stem cell transplantation cause an immune-compromised state and place the patient at risk of infection, the leading cause of mortality in pediatric cancer...
February 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28844551/safety-and-efficacy-of-high-dose-enteral-intravenous-and-transdermal-clonidine-for-the-acute-management-of-severe-intractable-childhood-dystonia-and-status-dystonicus-an-illustrative-case-series
#17
V Nakou, K Williamson, T Arichi, D E Lumsden, Steve Tomlin, M Kaminska, J-P Lin
OBJECTIVE: Acute dystonia in children is distressing, painful and can progress to life-threatening status dystonicus. Typical management involves benzodiazepines which can result in respiratory depression requiring PICU admission. Clonidine is less respiratory-depressant, and by facilitating sleep, switches dystonia off. It can also be administered via enteral, continuous intravenous infusion, and transdermal slow release routes. We describe the dose range and safety profile of clonidine management in a case-series of children with severe acute exacerbation of dystonia in a tertiary hospital setting...
November 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28811058/early-detection-of-tuberous-sclerosis-complex-an-opportunity-for-improved-neurodevelopmental-outcome
#18
Clara W T Chung, John A Lawson, Vanessa Sarkozy, Kate Riney, Orli Wargon, Antonia W Shand, Stephen Cooper, Harrison King, Sean E Kennedy, David Mowat
BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant condition associated with epilepsy, benign tumors, and variable neurodevelopmental outcomes. The diagnosis is most commonly made after epilepsy onset, although a proportion are diagnosed prenatally. Presymptomatic or early treatment with agents such as vigabatrin offers the hope of improved neurodevelopmental outcome. Therefore early diagnosis, before the onset of seizures, is important. In a cohort of children with TSC, we evaluated the age and mode of initial presentation, assessed the neurocognitive and epilepsy outcome, and analyzed whether those diagnosed before the onset of seizures have a different outcome compared with those diagnosed postseizures...
May 26, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28794249/not-all-scn1a-epileptic-encephalopathies-are-dravet-syndrome-early-profound-thr226met-phenotype
#19
Lynette G Sadleir, Emily I Mountier, Deepak Gill, Suzanne Davis, Charuta Joshi, Catherine DeVile, Manju A Kurian, Simone Mandelstam, Elaine Wirrell, Katherine C Nickels, Hema R Murali, Gemma Carvill, Candace T Myers, Heather C Mefford, Ingrid E Scheffer
OBJECTIVE: To define a distinct SCN1A developmental and epileptic encephalopathy with early onset, profound impairment, and movement disorder. METHODS: A case series of 9 children were identified with a profound developmental and epileptic encephalopathy and SCN1A mutation. RESULTS: We identified 9 children 3 to 12 years of age; 7 were male. Seizure onset was at 6 to 12 weeks with hemiclonic seizures, bilateral tonic-clonic seizures, or spasms...
September 5, 2017: Neurology
https://www.readbyqxmd.com/read/21989247/clinical-diagnosis-and-management-of-amyotrophic-lateral-sclerosis
#20
REVIEW
Orla Hardiman, Leonard H van den Berg, Matthew C Kiernan
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that results in progressive loss of bulbar and limb function. Patients typically die from respiratory failure within 3 years of symptom onset. The incidence of ALS in Europe is 2-3 cases per 100,000 individuals in the general population, and the overall lifetime risk of developing the disease is 1:400. ALS is familial in 5% of cases, and shows a Mendelian pattern of inheritance. ALS is recognized to overlap with frontotemporal dementia. Diagnosis is made on clinical grounds, using internationally recognized consensus criteria, after exclusion of conditions that can mimic ALS...
October 11, 2011: Nature Reviews. Neurology
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