Read by QxMD icon Read


Marina Flotats-Bastardas, Daniel Ebrahimi-Fakhari, Ludwig Gortner, Martin Poryo, Michael Zemlin, Alfons Macaya-Ruiz, Sascha Meyer
Tuberous sclerosis complex (TSC) is a genetic disease with a significant morbidity and mortality. We conducted a retrospective analysis of two cohorts (Vall d'Hebron University Hospital [HVH], Barcelona, Spain, 1982-2015, and at Saarland University Medical Center [UKS], Homburg, Germany, 1998-2015) to assess prevalence and treatment of TSC associated manifestations and to evaluate if the follow-up was in line with published recommendations. This was considered if more than 15% of patients did not receive adequate examination with regard to potential organ involvement...
March 20, 2018: Neuropediatrics
Alexander Pschibul, Wibke G Janzarik, Peter Franck, Markus Hufnagel, Christopher Beck, Rudolf Korinthenberg
Despite the availability of modern antibiotics, pneumococcal meningitis in both children and adults remains a severe disease-one known to frequently cause grave complications and residual disability. Although the appearance of arterial vasospasms in bacterial meningitis systematically has been investigated and reported on for adult patients, such research is lacking when it comes to infants. We report on a 4-week-old infant who, 6 days after onset of pneumococcal meningitis, suffered severe neurological deterioration with treatment-resistant seizures and coma...
March 9, 2018: Neuropediatrics
Ute Deutz, Nicole Heussen, Katharina Weigt-Usinger, Steffen Leiz, Christa Raabe, Tilman Polster, Steinbüchel Daniela, Christine Moll, Thomas Lücke, Ingeborg Krägeloh-Mann, Helmut Hollmann, Martin Häusler
This study investigated the effect of hippotherapy on gross motor function (Gross Motor Function Measure [GMFM]-66, GMFM dimension E and D) and quality of life (Child Health Questionnaire [CHQ 28], KIDSCREEN-27 parental versions) in children with bilateral spastic cerebral palsy. Seventy-three children (age: 9.1 ± 3.3 years; male = 44; GMFCS levels II = 27; III = 17; IV = 29) were randomized to an early ( n  = 35) or late ( n  = 38) treatment group. Data from 66 probands were available for further analysis...
February 27, 2018: Neuropediatrics
Eugen Boltshauser, Sandra P Toelle, Ianina Scheer, Annette Hackenberg
No abstract text is available yet for this article.
February 27, 2018: Neuropediatrics
Katrin Parmar, Brenda L Banwell, Nadine Akbar, Sandra Bigi
Pediatric onset multiple sclerosis (POMS) is a rare disease with an incidence of 0.07 to 2.9/100'000 children per year. It follows a relapsing-remitting disease course and is characterized by rapid accrual of inflammatory lesions, high relapse frequency, and early cognitive impairment. Magnetic resonance imaging (MRI) plays a pivotal role in the diagnosis of POMS, and in the exclusion of other disorders mimicking POMS. Furthermore, MRI aids in disease monitoring, and in the evaluation of therapeutic efficacy in both clinical practice and clinical trials...
February 26, 2018: Neuropediatrics
Bernd A Neubauer
No abstract text is available yet for this article.
February 26, 2018: Neuropediatrics
Eugen Boltshauser
No abstract text is available yet for this article.
February 26, 2018: Neuropediatrics
Marina Flotats-Bastardas, Eva Hebert, Miquel Raspall-Chaure, Francina Munell, Alfons Macaya, Katja Lohmann
No abstract text is available yet for this article.
February 22, 2018: Neuropediatrics
C Canavese, C Davico, M Casabianca, C Olivieri, S Mancini, G Migliore, A Versace, A Tocchet, B Vitiello
Child bilateral striatal necrosis (BSN) is a rare and etiologically heterogeneous condition. An association with group A streptococcus (GAS) infection was previously reported in two cases of BSN in infancy and early childhood. We here report on a 7-year-old boy who developed chorea and dystonia 20 days after symptomatic recovery from Sydenham's chorea. Repeated brain magnetic resonance imaging scans, obtained before, soon after the onset of the post-Sydenham symptoms, and 1 year later were consistent with an evolution from bilateral striatal microbleeding to necrosis, and consequently reduced basal ganglia volume and enlargement of the frontal horns...
February 22, 2018: Neuropediatrics
Christophe Barrea, Sandrine Vaessen, Saskia Bulk, Julie Harvengt, Jean-Paul Misson
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder with an incidence of ∼1 in 4,000 live births. Neurofibromin, the gene product, is ubiquitously expressed at high levels in the nervous system and functions as a tumor suppressor. Haploinsufficiency of neurofibromin through mutation leads to an increased risk of developing benign and malignant tumors in affected individuals. Although NF1 has complete penetrance, it displays considerable inter- and intrafamilial variability in phenotypic expression which poses disease prediction and management problems...
February 22, 2018: Neuropediatrics
Katalin Štěrbová, Markéta Vlčková, Petr Klement, Jana Neupauerová, David Staněk, Hana Zůnová, Pavel Seeman, Petra Laššuthová
BACKGROUND: Recently, a study providing insight into GABRB3 mutational spectrum was published (Møller et al 2017). The authors report considerable pleiotropy even for single mutations and were not able to identify any genotype-phenotype correlations. METHODS: The proband (twin B) was referred for massively parallel sequencing of epilepsy-related gene panel because of hypotonia and neonatal seizures. The revealed variant was confirmed with Sanger sequencing in the proband and the twin A, and both parents were tested for the presence of the variant...
February 14, 2018: Neuropediatrics
Rangan Srinivasaraghavan, Narayanan Parameswaran, Deborah Mathis, Celine Bürer, Barbara Plecko
Antiquitin deficiency is the most prevalent form of pyridoxine-dependent epilepsy. While most patients present with neonatal onset of therapy-resistant seizures, a few cases with late-onset during infancy have been described. Here, we describe the juvenile onset of epilepsy at the age of 17 years due to antiquitin deficiency in an Indian female with homozygosity for the most prevalent ALDH7A1 missense mutation, c.1279G > C; p.Glu427Gln in exon 14. The diagnosis was established along familial cosegregation analysis for an affected offspring, that had neonatal pyridoxine responsive seizures and had been found to be compound heterozygous for c...
February 5, 2018: Neuropediatrics
Carlo De Pieri, Giulia Bravar, Valentina Dolcemascolo, Anna Dallorto, Maria Cristina De Colle, Paola Elisa Cogo
No abstract text is available yet for this article.
February 2, 2018: Neuropediatrics
Manja Haaga, Susanne Trauzettel-Klosinski, Anna Krumm, Stephan Küster, Iliya Ivanov, Angelika Cordey, Claudia Gehrlich, Martin Staudt
AIM:  Diagnosing homonymous hemianopia (HH) in children can be difficult due to inability to comply with perimetry. Therefore, HH can often only be suspected by magnetic resonance imaging (MRI) showing lesions to the retrochiasmatic visual pathways. The aim of our retrospective observational cross-sectional study was to improve the radiologic detection of HH. METHODS:  MRIs of 21 subjects (5-17 years old) with ophthalmologically confirmed HH (14 complete, 7 incomplete hemianopias) were analyzed...
January 19, 2018: Neuropediatrics
Takenori Tozawa, Akira Nishimura, Tamaki Ueno, Daisuke Kaneda, Yuri Miyanomae, Tomohiro Chiyonobu, Masafumi Morimoto, Hajime Hosoi
Seronegative myasthenia gravis (MG) is a generalized form of MG that is diagnosed on the basis of clinical symptoms, electrophysiological testing, and pharmacological responses, in the absence of a seropositive status for anti-acetylcholine receptor (AChR) antibodies. Generalized MG that is seronegative for anti-AChR, anti-muscle-specific kinase (MuSK), and anti-low density lipoprotein receptor related protein 4 (Lrp4) antibodies is known as triple-seronegative MG. We here describe a case of triple-seronegative MG in an 8-year-old boy...
January 4, 2018: Neuropediatrics
Bernd A Neubauer
No abstract text is available yet for this article.
January 4, 2018: Neuropediatrics
K Varvagiannis, S Hanquinet, M H Billieux, R De Luca, P Rimensberger, M Lidgren, M Guipponi, P Makrythanasis, J L Blouin, S E Antonarakis, R Steinfeld, I Kern, A Poretti, J Fluss, S Fokstuen
Neuronal ceroid lipofuscinoses represent a heterogeneous group of early onset neurodegenerative disorders that are characterized by progressive cognitive and motor function decline, visual loss, and epilepsy. The age of onset has been historically used for the phenotypic classification of this group of disorders, but their molecular genetic delineation has now enabled a better characterization, demonstrating significant genetic heterogeneity even among individuals with a similar phenotype. The rare Congenital Neuronal Ceroid Lipofuscinosis (CLN10) caused by mutations in the CTSD gene encoding for cathepsin D is associated with a dramatic presentation with onset before or around birth...
December 28, 2017: Neuropediatrics
Zeynep Öztürk, Ünsal Yılmaz, Bahadır Konuşkan, Kıvılcım Gücüyener, Ercan Demir, Banu Anlar
OBJECTIVE: To identify the demographics, clinical characteristics, disease course, treatment patterns, and disability levels of multiple sclerosis (MS) patients with onset under the age of 10 years (early onset multiple sclerosis, EOMS). METHODS: EOMS patients were reviewed retrospectively in detailed records from 27 child neurology centers. Patients with preschool (≤7 years) and school age (>7 years) onset were compared. RESULTS: There were 30 children (16 girls, 14 boys) who have disease onset between 4 and 10 (mean8...
February 2018: Neuropediatrics
Pedro Tadao Hamamoto Filho, Carlos Cézar Sousa Lira, Marco Antônio Zanini
No abstract text is available yet for this article.
February 2018: Neuropediatrics
Shamshad Gulab, Husam R Kayyali, Youssef Al-Said
Manganese (Mn) is an essential element in trace quantity but large amounts are toxic. A novel hereditary disorder encompassing high blood Mn levels, dystonia, polycythemia, distinctive T1 hyperintense signals in the basal ganglia on magnetic resonance imaging (MRI) brain, and chronic liver disease was recently described. The disorder is caused by mutations in a Mn transporter encoding gene SLC30A10 . We are reporting the clinical features of this rare disorder in two Saudi brothers. The older brother presented with progressive gait difficulties, hypotonia, intermittent dystonia, polycythemia, and characteristic T1-hyperintense lesions on MRI brain...
February 2018: Neuropediatrics
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"