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Neuropediatrics

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https://www.readbyqxmd.com/read/29791933/infantile-basal-ganglia-stroke-after-mild-head-trauma-associated-with-mineralizing-angiopathy-of-lenticulostriate-arteries-an-under-recognized-entity
#1
Sandra P Toelle, Tamara Avetisyan, Nune Kuyumjyan, Biayna Sukhudyan, Eugen Boltshauser, Annette Hackenberg
Basal ganglia infarction in young children, mostly after mild head trauma, has been repeatedly reported. The pathogenesis and the risk factors are not fully understood. Lenticulostriate vasculopathy, usually referred to as basal ganglia calcification, is discussed as one of them. We describe five young (7-13 months old on presentation) male children who suffered from hemiparesis due to ischemic stroke of the basal ganglia, four of them after minor head trauma. All of them had calcification in the basal ganglia visible on computed tomography or cranial ultrasound but not on magnetic resonance imaging...
May 23, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29791932/b3galnt2-related-dystroglycanopathy-expansion-of-the-phenotype-with-novel-mutation-associated-with-muscle-eye-brain-disease-walker-warburg-syndrome-epileptic-encephalopathy-west-syndrome-and-sensorineural-hearing-loss
#2
Muna A Al Dhaibani, Ayman W El-Hattab, Omar Ismayl, Jehan Suleiman
Mutations in B3GALNT2 , encoding a glycosyltransferase enzyme involved in α-dystroglycan glycosylation, have been recently associated with dystroglycanopathy, a well-recognized subtype of congenital muscular dystrophy (CMD). Only a few cases have been reported with B3GALNT2 -related dystroglycanopathy with variable severity ranging from mild CMD to severe muscle-eye-brain disease. Here, we describe a child with a novel homozygous nonsense mutation in B3GALNT2 . The affected child has severe neurological disease since birth, including muscle disease manifested as hypotonia, muscle weakness, and wasting with elevated creatine kinase, eye disease including microphthalmia and blindness, brain disease with extensive brain malformations including massive hydrocephalus, diffuse cobblestone-lissencephaly, deformed craniocervical junction, and pontocerebellar hypoplasia...
May 23, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29783274/early-seizure-freedom-is-a-prognostic-factor-for-survival-in-patients-with-west-syndrome
#3
E J C Krijgh, C E Catsman-Berrevoets, R F Neuteboom
INTRODUCTION:  West syndrome (WS) is a devastating epileptic encephalopathy with substantial mortality. After a study by Riikonen in 1996, further data on mortality and prognostic factors for survival has been scarce. We aimed to study mortality in patients with WS and identify prognostic factors for survival. METHODS:  We performed a single-center retrospective study in a tertiary referral clinic (Erasmus University Hospital/Sophia Children's Hospital). This study obtained data from deceased patients regarding the age of death and cause of death...
May 21, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29783273/clinical-and-genetic-features-of-congenital-myasthenic-syndromes-due-to-chat-mutations-case-report-and-literature-review
#4
Pinar Arican, Pinar Gencpinar, Dilek Cavusoglu, Nihal Olgac Dundar
Congenital myasthenic syndromes (CMS) are neuromuscular transmission disorders caused by mutations in genes encoding neuromuscular junction proteins. CMS due to choline acetyltransferase (CHAT) gene is characterized by episodic apnea. We report a case of a 12-month-old female patient presented with recurrent episodic apnea carrying a mutation in CHAT gene, p.I336T. Furthermore, we describe the genetic and clinical findings in 44 CMS patients due to CHAT mutations in the literature up to date. Episodes of apnea and respiratory insufficiency are the hallmarks of CHAT mutations...
May 21, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29689584/bedside-ultrasound-guided-percutaneous-needle-aspiration-of-intra-and-extra-axial-intracranial-hemorrhage-in-neonates
#5
Mehmet N Cizmeci, Liesbeth Thewissen, Alexandra Zecic, Peter A Woerdeman, Bart de Boer, Edward Baert, Paul Govaert, Jeroen Dudink, Floris Groenendaal, Maarten Lequin, Linda S de Vries
Intracranial hemorrhage is an important cause of brain injury in the neonatal population and bedside percutaneous needle aspiration has emerged as an alternative due to the major risks that can be caused by standard neurosurgical decompression. We aimed to assess the effectiveness of this minimally invasive bedside technique and conducted a retrospective analysis of all newborn infants with a large extra-axial hemorrhage associated with a parenchymal hemorrhage causing a midline shift, managed at three academic centers over a 15-year period...
April 24, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29677701/surgical-treatment-and-long-term-outcome-of-cerebral-cavernous-malformations-related-epilepsy-in-pediatric-patients
#6
Qiao Lin, Peng-Fan Yang, Yan-Zeng Jia, Jia-Sheng Pei, Hui Xiao, Ting-Ting Zhang, Zhong-Hui Zhong, Shou-Sen Wang
Cerebral cavernous malformations (CMs) are vascular malformations affecting any part of the central nervous system. Clinical data and surgical outcomes for 27 pediatric patients with CM-related epilepsy were retrospectively reviewed. The mean age of onset was 12.71 ± 4.09 years, and the mean duration of epilepsy was 2.34 ± 1.95 years. All 27 patients were treated with microsurgery for resection of the CMs, and the hemosiderin rim, and the secondary epileptogenic zone if necessary. The mean follow-up period was 6...
April 20, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29677700/microsurgery-in-cavernoma-related-epilepsy-in-children-do-results-in-children-differ-from-adults
#7
Andreas Jödicke
No abstract text is available yet for this article.
April 20, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29642246/a-novel-ccnd2-mutation-in-a-previously-reported-case-of-megalencephaly-and-perisylvian-polymicrogyria-with-postaxial-polydactyly-and-hydrocephalus
#8
I Maini, E Farnetti, S G Caraffi, I Ivanovski, M L De Bernardi, C Gelmini, M Pollazzon, S Rosato, S Laurie, L Matalonga, C Baldo, L Garavelli
No abstract text is available yet for this article.
April 11, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29571173/seizure-freedom-in-patients-with-dravet-syndrome-with-contraceptives-a-case-report-with-two-patients
#9
Jan Lotte, Stefan Grothe, Gerhard Josef Kluger
Dravet syndrome is a rare and malignant epileptic syndrome that is typically resistant to antiepileptic drugs. There is a growing interest in the antiepileptic properties of neurosteroids. Especially progesterone is known to act as an anticonvulsive agent. However, contraceptives that act as orally given neurosteroids often lead to increased seizures in women with epilepsy.We report on two girls with Dravet syndrome, who gained seizure freedom under therapy with contraceptives. The first patient received an oral contraceptive, a combination of an estrogen, and a gestagen, due to hypermenorrhea...
March 23, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29631299/epileptic-encephalopathy-in-adams-oliver-syndrome-associated-to-a-new-dock6-mutation-a-peculiar-behavioral-phenotype
#10
Livia Pisciotta, Valeria Capra, Andrea Accogli, Thea Giacomini, Giulia Prato, Purificação Tavares, Jorge Pinto-Basto, Giovanni Morana, Maria Margherita Mancardi
Adams-Oliver syndrome (AOS) is characterized by a combination of congenital scalp defects (aplasia cutis congenita) and terminal transverse limb malformations of variable severity. When neurological findings are present, patients are reported as AOS variants. We describe a child with compound heterozygosity of the DOCK6 gene, aplasia cutis, terminal transverse limb defects, cardiovascular impairment, intellectual disability, and brain malformations with intracranial calcifications. He suffers from a severe refractory epileptic encephalopathy characterized by polymorphic seizures with prolonged periods of electroencephalogram (EEG), continuous epileptiform activity related to clinical inactivity, and closure of eyes with an "ON-OFF" behavior...
June 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29558773/diagnosis-and-treatment-of-tuberous-sclerosis-manifestations-in-children-a-multicenter-study
#11
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...
June 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29523004/cystic-encephalomalacia-following-vasculopathy-and-vasospasm-of-proximal-intracranial-arteries-due-to-pneumococcal-meningitis-in-a-infant
#12
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...
June 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29486504/impact-of-hippotherapy-on-gross-motor-function-and-quality-of-life-in-children-with-bilateral-cerebral-palsy-a-randomized-open-label-crossover-study
#13
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...
June 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29486503/torcular-pseudomass
#14
Eugen Boltshauser, Sandra P Toelle, Ianina Scheer, Annette Hackenberg
No abstract text is available yet for this article.
June 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29482255/imaging-pediatric-multiple-sclerosis-challenges-and-recent-advances
#15
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...
June 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29482253/brain-arteriovenous-malformations-and-arteriovenous-fistulas
#16
Eugen Boltshauser
No abstract text is available yet for this article.
June 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29471551/bilateral-striatal-necrosis-after-sydenham-s-chorea-in-a-7-year-old-boy-a-2-year-follow-up
#17
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...
June 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29471550/phenotype-genotype-correlation-in-children-with-neurofibromatosis-type-1
#18
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...
June 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29702714/abstracts-of-the-46th-annual-meeting-of-the-senp-soci%C3%A3-t%C3%A3-europ%C3%A3-enne-de-neurologie-p%C3%A3-diatrique-barcelona-april-27th-to-28th-2018
#19
https://www.readbyqxmd.com/read/29401530/antiquitin-deficiency-with-adolescent-onset-epilepsy-molecular-diagnosis-in-a-mother-of-affected-offsprings
#20
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...
April 2018: Neuropediatrics
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