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19 papers 0 to 25 followers
Francesco D'Antonio, Giorgio Pagani, Alessandra Familiari, Asma Khalil, Tally-Lerman Sagies, Gustavo Malinger, Zvi Leibovitz, Catherine Garel, Marie Laure Moutard, Gianluigi Pilu, Amar Bhide, Ganesh Acharya, Martina Leombroni, Lamberto Manzoli, Aris Papageorghiou, Federico Prefumo
CONTEXT: Antenatal counseling in cases of agenesis of the corpus callosum (ACC) is challenging. OBJECTIVES: To ascertain the outcome in fetuses with isolated complete ACC and partial ACC. DATA SOURCES: Medline, Embase, CINAHL, and Cochrane databases. STUDY SELECTION: Studies reporting a prenatal diagnosis of ACC. The outcomes observed were: chromosomal abnormalities at standard karyotype and chromosomal microarray (CMA) analysis, additional anomalies detected only at prenatal MRI and at postnatal imaging or clinical evaluation, concordance between prenatal and postnatal diagnosis and neurodevelopmental outcome...
September 2016: Pediatrics
Yi Shiau Ng, Ming Lim, Gareth Thomas, Robert McFarland
No abstract text is available yet for this article.
October 4, 2016: Neurology
Kiran Maski, Judith A Owens
Sleep problems are frequently encountered as presenting complaints in child neurology clinical practice. They can affect the functioning and quality of life of children, particularly those with primary neurological and neurodevelopmental disorders, since coexisting sleep problems can add substantially to neurocognitive and behavioural comorbidities. Additionally, symptoms of some sleep disorders such as parasomnias and narcolepsy can be confused with those of other neurological disorders (eg, epilepsy), posing diagnostic challenges for paediatric neurologists...
October 2016: Lancet Neurology
Soňa Janáčková, Steward Boyd, Elissa Yozawitz, Tammy Tsuchida, Marie-Dominique Lamblin, Sophie Gueden, Ronit Pressler
OBJECTIVE: Although seizures are more common in the neonatal period than in any other stage of childhood, those in preterm neonates are still poorly described. The aim of this study was to assess electro-clinical characteristics of seizures occurring before a corrected age of 40weeks in neonates born prematurely. METHOD: Retrospective analysis of EEG-documented seizures in neonates born prematurely. Seizures in a group of term neonates served as controls. RESULTS: Fifty-six prematurely born and 46 term born neonates were included...
August 2016: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
Jasna Jancic, Blazo Nikolic, Nikola Ivancevic, Vesna Djuric, Ivan Zaletel, Dejan Stevanovic, Sasa Peric, John N van den Anker, Janko Samardzic
Multiple sclerosis (MS) is a chronic, autoimmune, inflammatory, demyelinating disease of the central nervous system. MS is increasingly recognized in the pediatric population, and it is usually diagnosed around 15 years of age. The exact etiology of MS is still not known, although autoimmune, genetic, and environmental factors play important roles in its development, making it a multifactorial disease. The disease in children almost always presents in the relapsing-remittent form. The therapy involves treatment of relapses, and immunomodulatory and symptomatic treatment...
September 17, 2016: Neurology and Therapy
Rani Ameena Bashir, Liza Espinoza, Sakeer Vayalthrikkovil, Jeffrey Buchhalter, Leigh Irvine, Luis Bello-Espinosa, Khorshid Mohammad
BACKGROUND: We report the impact of implementing continuous video electroencephalography monitoring for neonates with hypoxic-ischemic encephalopathy via a protocol in the context of neonatal neuro-critical care program. METHODS: Neonates with hypoxic-ischemic encephalopathy were studied retrospectively two years before and after implementing continuous video electroencephalography for 72 hours as a care protocol. Before continuous video electroencephalography, a 60-minute routine electroencephalography was performed at the discretion of the provider...
August 3, 2016: Pediatric Neurology
Donald B Sanders, Gil I Wolfe, Michael Benatar, Amelia Evoli, Nils E Gilhus, Isabel Illa, Nancy Kuntz, Janice M Massey, Arthur Melms, Hiroyuki Murai, Michael Nicolle, Jacqueline Palace, David P Richman, Jan Verschuuren, Pushpa Narayanaswami
OBJECTIVE: To develop formal consensus-based guidance for the management of myasthenia gravis (MG). METHODS: In October 2013, the Myasthenia Gravis Foundation of America appointed a Task Force to develop treatment guidance for MG, and a panel of 15 international experts was convened. The RAND/UCLA appropriateness methodology was used to develop consensus guidance statements. Definitions were developed for goals of treatment, minimal manifestations, remission, ocular MG, impending crisis, crisis, and refractory MG...
July 26, 2016: Neurology
Hugh J Willison, Bart C Jacobs, Pieter A van Doorn
Guillain-Barré syndrome is the most common and most severe acute paralytic neuropathy, with about 100,000 people developing the disorder every year worldwide. Under the umbrella term of Guillain-Barré syndrome are several recognisable variants with distinct clinical and pathological features. The severe, generalised manifestation of Guillain-Barré syndrome with respiratory failure affects 20-30% of cases. Treatment with intravenous immunoglobulin or plasma exchange is the optimal management approach, alongside supportive care...
August 13, 2016: Lancet
Yuri Nakamura, Kei-Ichiro Takase, Takuya Matsushita, Satoshi Yoshimura, Ryo Yamasaki, Hiroyuki Murai, Kazufumi Kikuchi, Jun-Ichi Kira
A 34-year-old man presented with an acute onset of upbeat nystagmus, slurred speech, and limb and truncal ataxias. The patient had a history of limb ataxia and gait disturbance previously treated as brainstem encephalitis with corticosteroids 3 years previously. Brain magnetic resonance imaging showed pontine developmental venous anomaly (DVA) and hemorrhagic infarction within the drainage territory of the DVA. Three months later, the patient exhibited recurrent limb ataxia, double vision, and numbness of the left side of the body...
September 19, 2016: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
Evan J Hess, Kirsten A Moody, Alexandra L Geffrey, Sarah F Pollack, Lauren A Skirvin, Patricia L Bruno, Jan L Paolini, Elizabeth A Thiele
OBJECTIVE: Tuberous sclerosis complex (TSC) is an autosomal-dominant genetic disorder with highly variable expression. The most common neurologic manifestation of TSC is epilepsy, which affects approximately 85% of patients, 63% of whom develop treatment-resistant epilepsy. Herein, we evaluate the efficacy, safety, and tolerability of cannabidiol (CBD), a nonpsychoactive compound derived from the marijuana plant, as an adjunct to current antiepileptic drugs in patients with refractory seizures in the setting of TSC...
October 2016: Epilepsia
Yun Tae Hwang, Solange Mabel Aliaga, Marta Arpone, David Francis, Xin Li, Belinda Chong, Howard Robert Slater, Carolyn Rogers, Lesley Bretherton, Matthew Hunter, Robert Heard, David Eugeny Godler
CGG repeat expansion >200 within FMR1, termed full mutation (FM), has been associated with promoter methylation, consequent silencing of gene expression and fragile X syndrome (FXS)-a common cause of intellectual disability and co-morbid autism. Unmethylated premutation (55-199 repeats) and FM alleles have been associated with fragile X related tremor/ataxia syndrome (FXTAS), a late onset neurodegenerative disorder. Here we present a 33-year-old male with FXS, with white matter changes and progressive deterioration in gait with cerebellar signs consistent with probable FXTAS; there was no evidence of any other cerebellar pathology...
October 1, 2016: American Journal of Medical Genetics. Part A
Arielle Crespel, Edoardo Ferlazzo, Silvana Franceschetti, Pierre Genton, Riadh Gouider, Reetta Kälviäinen, Miikka Korja, Maria K Lehtinen, Esa Mervaala, Michele Simonato, Annika Vaarmann
We first review the clinical presentation and current therapeutic approaches available for treating Unverricht-Lundborg disease (ULD), a progressive myoclonus epilepsy. Next, we describe the identification of disease causing mutations in the gene encoding cystatin B (CSTB). A Cstb-deficient mouse model, which recapitulates the key features of ULD including myoclonic seizures, ataxia, and neuronal loss, was generated to shed light on the mechanisms contributing to disease pathophysiology. Studies with this model have elucidated the diverse biological roles for Cstb from functioning as a protease inhibitor, to regulating glial activation, oxidative stress, serotonergic neurotransmission, and hyperexcitability...
September 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
Anusha K Yeshokumar, Lisa R Sun, Jessica L Klein, Kristin W Baranano, Carlos A Pardo
This case series demonstrates a novel clinical phenotype of gait disturbance as an initial symptom in children <3 years old with anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis. Anti-NMDAR encephalitis is one of the most common causes of encephalitis in children, more common than any of the viral encephalitides and the second most common autoimmune cause after acute disseminated encephalomyelitis. Anti-NMDAR encephalitis in children often presents with disrupted speech and sleep patterns followed by progression to motor dysfunction, dyskinesias, and seizures...
September 2016: Pediatrics
Pan P Li, Xin Sun, Guangbin Xia, Nicolas Arbez, Sharan Paul, Shanshan Zhu, H Benjamin Peng, Christopher A Ross, Arnulf H Koeppen, Russell L Margolis, Stefan M Pulst, Tetsuo Ashizawa, Dobrila D Rudnicki
OBJECTIVE: Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease caused by a CAG repeat expansion in the gene ataxin-2 (ATXN2). ATXN2 intermediate-length CAG expansions were identified as a risk factor for amyotrophic lateral sclerosis (ALS). The ATXN2 CAG repeat is translated into polyglutamine, and SCA2 pathogenesis has been thought to derive from ATXN2 protein containing an expanded polyglutamine tract. However, recent evidence of bidirectional transcription at multiple CAG/CTG disease loci has led us to test whether additional mechanisms of pathogenesis may contribute to SCA2...
October 2016: Annals of Neurology
Yael Hacohen, Sukhvir Wright, Jonathan Gadian, Angela Vincent, Ming Lim, Evangeline Wassmer, Jean-Pierre Lin
Expressive dysphasia and mutism are common clinical features in children and adults with N-methyl-d-aspartate receptor antibodies (NMDAR-Ab) encephalitis, and are likely to result from NMDAR hypofunction. A prodromal loss of social and communication skills can typify that of an autistic regression, particularly when presenting under the age of 3 years. Here we describe two toddlers who presented with developmental regression, particularly of their social communication skills, mimicking an autistic regression, who were found to have NMDAR-Ab in the serum and cerebrospinal fluid...
October 2016: Developmental Medicine and Child Neurology
Nancy Ratner, Garrett M Brodeur, Russell C Dale, Nina F Schor
Neuroblastoma is a childhood cancer derived from cells of neural crest origin. The hallmarks of its enigmatic character include its propensity for spontaneous regression under some circumstances and its association with paraneoplastic opsoclonus, myoclonus, and ataxia. The neurodevelopmental underpinnings of its origins may provide important clues for development of novel therapeutic and preventive agents for this frequently fatal malignancy and for the associated paraneoplastic syndromes. Ann Neurol 2016;80:13-23...
July 2016: Annals of Neurology
Kenton Dover, John R Stephens
No abstract text is available yet for this article.
March 13, 2016: Clinical Pediatrics
Michael J Rivkin, Timothy J Bernard, Michael M Dowling, Catherine Amlie-Lefond
Stroke in children carries lasting morbidity. Once recognized, it is important to evaluate and treat children with acute stroke efficiently and accurately. All children should receive neuroprotective measures. It is reasonable to consider treatment with advanced thrombolytic and endovascular agents. Delivery of such care requires purposeful institutional planning and organization in pediatric acute care centers. Primary stroke centers established for adults provide an example of the multidisciplinary approach that can be applied to the evaluation and treatment of children who present with acute stroke...
March 2016: Pediatric Neurology
Marina Herwerth, Sudhakar Reddy Kalluri, Rajneesh Srivastava, Tatjana Kleele, Selin Kenet, Zsolt Illes, Doron Merkler, Jeffrey L Bennett, Thomas Misgeld, Bernhard Hemmer
OBJECTIVE: Neuromyelitis optica (NMO) is an autoimmune disease of the CNS, which resembles multiple sclerosis (MS). NMO differs from MS, however, in the distribution and histology of neuroinflammatory lesions and shows a more aggressive clinical course. Moreover, the majority of NMO patients carry IgG autoantibodies against aquaporin-4 (AQP4), an astrocytic water channel. Antibodies against AQP4 can damage astrocytes via complement, but NMO histopathology also shows demyelination, and - importantly - axon injury, which may determine permanent deficits following NMO relapses...
March 6, 2016: Annals of Neurology
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