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European Journal of Paediatric Neurology: EJPN

Frances Morrison, Jack Fairhurst, Charlie Fairhurst
AIM: Evaluation of topical Glyceryl trinitrate as a therapeutic option to improve peripheral circulation in 16 children with severe complex neurodisability, poor capillary return and signs of vascular insufficiency, including discomfort. METHODS: If insufficient improvement in capillary return was obtained using conservative measures, a 5 mg GTN patch was placed each day on the front of the tibia of each leg. Children were reviewed clinically for up to 12 months of treatment...
December 31, 2017: European Journal of Paediatric Neurology: EJPN
M Blankenburg, J Junker, G Hirschfeld, E Michel, F Aksu, J Wager, B Zernikow
INTRODUCTION: Many patients with cerebral palsy (CP) suffer chronic pain as one of the most limiting factors in their quality of life. In CP patients, pain mechanisms are not well understood, and pain therapy remains a challenge. Quantitative sensory testing (QST) might provide unique information about the functional status of the somatosensory system and therefore better guide pain treatment. OBJECTIVES: To understand better the underlying pain mechanisms in pediatric CP patients, we aimed to assess clinical and pain parameters, as well as QST profiles, which were matched to the patients' cerebral imaging pathology...
December 30, 2017: European Journal of Paediatric Neurology: EJPN
Marion Favier, Bastien Joubert, Géraldine Picard, Véronique Rogemond, Laure Thomas, Sylvain Rheims, Marion Bailhache, Frédéric Villega, Jean-Michel Pédespan, Giulia Berzero, Dimitri Psimaras, Jean-Christophe Antoine, Virginie Desestret, Jérôme Honnorat
Autoimmune encephalitis with anti-N-methyl-d-aspartate receptor autoantibodies (NMDA-R-Abs) is a recently described disease affecting adult and pediatric patients. Symptoms of the disease are now perfectly described in the adult population but the clinical presentation is less known in young children. The aim of the present study was to describe the clinical presentation and the specificities of symptoms presented by young children with NMDA-R-Abs encephalitis to improve diagnosis of this disease, and to compare these to a series of previously published female adult patients...
December 28, 2017: European Journal of Paediatric Neurology: EJPN
Zvi Leibovitz, Hanna Mandel, Tzipora C Falik-Zaccai, Shani Ben Harouch, David Savitzki, Karina Krajden-Haratz, Liat Gindes, Mordechai Tamarkin, Dorit Lev, William B Dobyns, Tally Lerman-Sagie
OBJECTIVES: To elaborate the imaging phenotype associated with a homozygous c.743C > del frameshift mutation in DAG1 leading to complete absence of both α- and β-dystroglycan previously reported in a consanguineous Israeli-Arab family. METHODS: We analyzed prenatal and postnatal imaging data of patients from a consanguineous Israeli-Arab kindred harboring the DAG1 mutation. RESULTS: The imaging studies (fetal ultrasound, CT scan and postnatal MRI) demonstrated: flat cortex (abnormally thick with irregular pebbled cortical-white matter border on MRI), hydrocephalus, scattered small periventricular heterotopia and subependymal hemorrhages and calcifications, z-shaped brainstem, and in addition an occipital encephalocele, vermian agenesis, and an elongated and thick tectum (tectocerebellar dysraphia)...
December 26, 2017: European Journal of Paediatric Neurology: EJPN
Hirokazu Oguni, Yasushi Ito, Yui Otani, Satoru Nagata
OBJECTIVES: We conducted a questionnaire survey on the efficacy and side effects of ketogenic diet (KD) therapy in patients with glucose transporter 1 deficiency syndrome (GLUT1DS) as well as issues associated with long-term KD therapy from the viewpoint of patients' families. SUBJECTS AND METHODS: The subjects were 34 patients whose ages at the time of the survey ranged between 2 and 50 years (median, 11 years). The ages at the diagnosis ranged between 3 months and 48 years and 5 months (median, 4 years and 10 months), and KD therapy was started within 5 months in all patients...
December 26, 2017: European Journal of Paediatric Neurology: EJPN
Miryam Carecchio, Giovanna Zorzi, Francesca Ragona, Federica Zibordi, Nardo Nardocci
Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders. From 2004 to 2012, both autosomal dominant and de novo mutations in ATP1A3 have been detected in patients affected by these three conditions. Growing evidence suggests that AHC, RDP and CAPOS syndrome are part of a large and continuously expanding clinical spectrum and share some recurrent clinical features, such as abrupt-onset, asymmetric anatomical distribution and the presence of triggering factors, which are highly suggestive of ATP1A3 mutations...
December 21, 2017: European Journal of Paediatric Neurology: EJPN
Stephanie Garcia-Tarodo, Alexandre N Datta, Gian P Ramelli, Fabienne Maréchal-Rouiller, Christian G Bien, Christian M Korff
OBJECTIVE: The role of autoimmunity and neural antibodies is increasingly recognized in different forms of seizures and epilepsy. Their prevalence in new-onset epilepsy has also recently been the focus of several clinical cohorts in the adult and pediatric population, with positive titers in 10-11% of cases. Our aim was to determine the seropositivity at the first seizure onset in a non-selective group of children. METHOD: We conducted a prospective multicenter cohort study recruiting children aged 0-16 years with new-onset seizures presenting at the In- and Outpatient Pediatric Neurology Departments of three Children's Hospitals in Switzerland between September 2013 and April 2016...
December 21, 2017: European Journal of Paediatric Neurology: EJPN
Janet Mifsud
No abstract text is available yet for this article.
December 21, 2017: European Journal of Paediatric Neurology: EJPN
Matthieu P Robert, Pierre-Paul Vidal
No abstract text is available yet for this article.
December 20, 2017: European Journal of Paediatric Neurology: EJPN
Kenneth A Myers, Ingrid E Scheffer
Epilepsy with myoclonic absences is a rare generalized epilepsy syndrome with distinctive seizures. Two unrelated children had mild developmental impairment and onset of myoclonic-absences at 3 and 8 years. Seizures were characterized by bilateral 3 Hz myoclonic jerks superimposed on tonic abduction of the upper limbs. Events lasted 10-60 s, and complex gestural automatisms were often observed; in one case, a boy undid his seatbelt and attempted to exit a moving vehicle. Post-ictally, both children immediately regained awareness without recollection of their actions...
December 19, 2017: European Journal of Paediatric Neurology: EJPN
Shekeeb S Mohammad, Russell C Dale
Immune mediated movement disorders include movement disorders in the context of autoimmune encephalitis such as anti-NMDAR encephalitis, post-infectious autoimmune movement disorders such as Sydenham chorea, paraneoplastic autoimmune movement disorders such as opsoclonus myoclonus ataxia syndrome, and infection triggered conditions such as paediatric acute neuropsychiatric syndrome. This review focuses on the approach to treatment of immune mediated movement disorders, which requires an understanding of the immunopathogenesis, whether the disease is destructive or 'altering', and the natural history of disease...
December 19, 2017: European Journal of Paediatric Neurology: EJPN
Michele Iacomino, Chiara Fiorillo, Annalaura Torella, Mariasavina Severino, Paolo Broda, Catia Romano, Raffaele Falsaperla, Giulia Pozzolini, Carlo Minetti, Pasquale Striano, Vincenzo Nigro, Federico Zara
In the last few years, whole exome sequencing (WES) allowed the identification of PRUNE mutations in patients featuring a complex neurological phenotype characterized by severe neurodevelopmental delay, microcephaly, epilepsy, optic atrophy, and brain or cerebellar atrophy. We describe an additional patient with homozygous PRUNE mutation who presented with spinal muscular atrophy phenotype, in addition to the already known brain developmental disorder. This novel feature expands the clinical consequences of PRUNE mutations and allow to converge PRUNE syndrome with previous descriptions of neurodevelopmental/neurodegenerative disorders linked to altered microtubule dynamics...
December 18, 2017: European Journal of Paediatric Neurology: EJPN
Ruben G F Hendriksen, Johan S H Vles, Marlien W Aalbers, Richard F M Chin, Jos G M Hendriksen
AIM: Duchenne Muscular Dystrophy (DMD) is more than a muscle disease since there is a higher prevalence of neuropsychological comorbidities. Similarly, the prevalence of epilepsy is increased. Given the nowadays-increasing interest in brain-related comorbidities in DMD, this study aimed to evaluate the relationship between DMD, epilepsy, and associated neurodevelopmental disorders in an international sample of DMD patients. METHOD: Using a questionnaire-based study we investigated the occurrence of self/by-proxy reported brain-related comorbidities in a group of 228 DMD patients...
December 18, 2017: European Journal of Paediatric Neurology: EJPN
Davide Tonduti, Federica Invernizzi, Celeste Panteghini, Lorenzo Pinelli, Silvia Battaglia, Elisa Fazzi, Giovanna Zorzi, Isabella Moroni, Barbara Garavaglia, Luisa Chiapparini, Nardo Nardocci
Encephalopathies with neostriatal involvement constitute a heterogeneous group of acquired and genetically inherited conditions that include Bilateral Striatal Necrosis (BSN) and other Striatal Lesions (SL) (Tonduti et al). We describe two new patients suffering from BSN due to biallelic SLC19A3 mutations. In the first patient vitamin supplementation was started early on, resulting in the remission of the clinical picture, and an almost complete normalization of the neuroradiological findings. In the second one treatment was started late, compliance was irregular and the resulting clinical outcome was poor...
December 16, 2017: European Journal of Paediatric Neurology: EJPN
C Fusco, C Spagnoli
Sydenham's chorea (SC) is an immune-mediated hyperkinetic movement disorder, developing after group A Beta-hemolytic streptococcal (GABHS) infection. Aside from conventional symptomatic treatment (carbamazepine, valproate, neuroleptics), the use of steroids has also been advocated, mainly in severe, drug-resistant cases or if clinically disabling side effects develop with first line therapies. Based on the description of 5 cases followed in the Child Neurology Unit of Santa Maria Nuova Hospital in Reggio Emilia and on the available medical literature on this topic, we propose considering the use of corticosteroids therapy in children with SC, with the administration of IV methyl-prednisolone followed by oral deflazacort in severe cases and of oral deflazacort alone in mild and moderate degrees of involvement...
December 16, 2017: European Journal of Paediatric Neurology: EJPN
K M Gorman, E Meyer, M A Kurian
In 2016, two research groups independently identified microdeletions and pathogenic variants in the lysine-specific histone methyltransferase 2B gene, KMT2B in patients with early-onset progressive dystonia. KMT2B-dystonia (DYT28) is emerging as an important and frequent cause of childhood-onset progressive generalised dystonia and is estimated to potentially account for up to 10% of early-onset generalised dystonia. Herein, we review variants in KMT2B associated with dystonia, as well as the clinical phenotype, treatment and underlying disease mechanisms...
December 15, 2017: European Journal of Paediatric Neurology: EJPN
Miss Laura Bonouvrie
No abstract text is available yet for this article.
December 8, 2017: European Journal of Paediatric Neurology: EJPN
Thomas Balslev, Arno M M Muijtjens, Sabine Frølich Maarbjerg, Willem de Grave
BACKGROUND: Teaching and learning with patient video cases may add authenticity, enhance diagnostic accuracy and improve chances of early diagnosis. The aim of this study is firstly to identify selection criteria for key Patient video cases (PVCs), secondly to identify trends in relevance of PVCs for learner levels and thirdly, to rank PVCs for learner levels. METHODS: Based on a literature review, we identified criteria for key PVCs for use in paediatric neurology...
December 2, 2017: European Journal of Paediatric Neurology: EJPN
Charlotte M A Lubout, Terry G J Derks, Linda Meiners, Jan Jaap Erwich, Klasien A Bergman, Roelineke J Lunsing, Guenter Schwarz, Alex Veldman, Francjan J van Spronsen
Molybdenum cofactor deficiency type A (MoCD-A) is an inborn error of metabolism presenting early after birth with severe seizures. Recently, experimental substitution treatment with cyclic pyranopterin monophosphate (cPMP) has become available. Because prenatal data is scarce, we report data of prenatal Magnetic Resonance Imaging (MRI) in two cases with MoCD-A demonstrating signs of possible early brain injury. Prenatal MRI can be used for monitoring in MoCD-A to guide decision-making in timing of delivery.
November 28, 2017: European Journal of Paediatric Neurology: EJPN
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