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Neuropediatrics

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https://www.readbyqxmd.com/read/30011403/early-life-epilepsy-and-episodic-apnea-revealing-an-atp1a3-mutation-report-of-a-pediatric-case-and-literature-review
#1
Thouraya Ben Younes, Hanene Benrhouma, Hedia Klaa, Aida Rouissi, Myriam Chaabouni, Ichraf Kraoua, Ilhem Ben Youssef-Turki
ATP1A3 mutations have now been recognized in infants, children, and adults presenting with a diverse group of neurological phenotypes, including rapid-onset dystonia-parkinsonism, alternating hemiplegia of childhood, and most recently, cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss syndrome. The phenotypic spectrum of ATP1A3 -related neurological disorders continues to expand. In this case study, we report on early life epilepsy with episodic apnea potentially secondary to ATP1A3 mutation in a Tunisian child...
July 16, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30001565/shunt-dependency-syndrome-after-cyst-peritoneal-shunt-resolved-by-keyhole-microsurgical-cyst-resection-two-case-reports-and-literature-review
#2
Fangyong Dong, Zhen Wang, Yakun Li, Zirong Chen, Suojun Zhang, Feng Wan
OBJECTIVE:  Shunt dependency syndrome after cyst-peritoneal (CP) shunt is a rare but serious complication which leads to increased intracranial pressure and neurological deficit. The possible mechanism still remains in controversy. We present our experience on the treatment of the complication and attempt to find a better therapy strategy for the complication. METHODS:  Two children with middle fossa arachnoid cysts underwent CP shunt with fixed pressure catheters at an opening pressure of 7 cmH2 O and then developed dependency syndrome...
July 12, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30001564/epilepsy-in-biotinidase-deficiency-is-distinct-from-early-myoclonic-encephalopathy
#3
Ulviyya Guliyeva, Ilyas Okur, Olivier Dulac, Oktay Khalilov, Sugra Guliyeva
No abstract text is available yet for this article.
July 12, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29980149/febrile-infection-related-epilepsy-syndrome-fires-with-multifocal-subcortical-infarcts-a-new-imaging-phenotype
#4
Ai Peng Tan
Febrile infection-related epilepsy syndrome (FIRES) is a catastrophic epileptic encephalopathy of unknown etiology which occurs predominantly in school-aged children, following a febrile illness. The term FIRES was first proposed in 2010 by van Baalen et al. The etiology of FIRES remains elusive, although most believed that it is likely related to inappropriate activation of the innate immune system. It is often a diagnosis of exclusion as it lacks specific clinical criteria and/or confirmatory tests. Familiarity with the range of imaging phenotypes associated with FIRES is crucial as this will assist timely recognition and institution of appropriate treatment plan...
July 6, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29980148/secondary-bone-defect-in-neuromuscular-diseases-in-childhood-a-longitudinal-muscle-bone-unit-analysis
#5
C Ribstein, D Courteix, N Rabiau, C Bommelaer, Y Bourdeau, B Pereira, Catherine Sarret
To evaluate the potential bone defect in neuromuscular diseases, we conducted a longitudinal study including three groups of patients: 14 Duchenne muscular dystrophies (DMD) and 2 limb-girdle muscular dystrophies (LGMD); 3 Becker muscular dystrophies (BeMD) and 7 spinal muscular atrophies (SMA). Yearly osteodensitometries assessed body composition and bone mineral density (BMD) associated with bone markers and leptin. Along the 7-year study, 107 osteodensitometries showed that bone status evolved to osteopenia in most patients except BeMD...
July 6, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29954013/neurological-sequelae-due-to-inborn-metabolic-diseases-in-pediatric-refugees-challenges-in-treating-the-untreated
#6
Katharina A Schiergens, Michael Staudigl, Ingo Borggraefe, Esther M Maier
In the 2015 mass migration from Syria and neighboring countries, Germany received an unprecedented number of 4,76,649 asylum applications. As many of the refugees arrived in Southern Germany via the Austrian border, the city of Munich was faced with the majority of Germany's inflow of war refugees and their complex health issues. Among the refugees were a high number of children. Their main health issues were infectious diseases and surgical procedures due to trauma, but we also encountered complex chronic diseases...
June 28, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29949814/resident-and-fellow-section-in-neuropediatrics
#7
Darius Ebrahimi-Fakhari, Bernd Neubauer, Barbara Plecko, Nicole I Wolf
No abstract text is available yet for this article.
June 27, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29940663/prune1-deficiency-expanding-the-clinical-and-genetic-spectrum
#8
Bader Alhaddad, Anna Schossig, Tobias B Haack, Reka Kovács-Nagy, Matthias C Braunisch, Christine Makowski, Jan Senderek, Katharina Vill, Wolfgang Müller-Felber, Tim M Strom, Birgit Krabichler, Peter Freisinger, Charu Deshpande, Tilman Polster, Nicole I Wolf, Isabelle Desguerre, Friedrich Wörmann, Agnès Rötig, Uwe Ahting, Robert Kopajtich, Holger Prokisch, Thomas Meitinger, René G Feichtinger, Johannes A Mayr, Heinz Jungbluth, Michael Hubmann, Johannes Zschocke, Felix Distelmaier, Johannes Koch
BACKGROUND:  Primary microcephaly and profound global developmental delay have been considered the core clinical phenotype in patients with bi-allelic PRUNE1 mutations. METHODS:  Linkage analysis and whole-exome sequencing (WES) in a multiplex family and extraction of further cases from a WES repository containing 571 children with severe developmental disabilities and neurologic symptoms. RESULTS:  We identified bi-allelic PRUNE1 mutations in twelve children from six unrelated families...
June 25, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29933461/arrested-hydrocephalus-in-childhood-case-series-and-review-of-the-literature
#9
Yannick Hurni, Andrea Poretti, Jacques Schneider, Raphael Guzman, Gian Paolo Ramelli
INTRODUCTION:  Hydrocephalus can be progressive or spontaneously arrested. In arrested hydrocephalus, the balance between production and absorption of the cerebrospinal fluid is restored. Patients are mostly asymptomatic, and no surgical treatment is necessary for them. METHODS:  We performed a two-center consecutive case series study, aimed at investigating the safety of nonsurgical management of hydrocephalus in selected pediatric patients. We retrospectively selected all consecutive patients, suspected to suffer from arrested hydrocephalus and referred to our two institutions between January 2011 and December 2013...
June 22, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29933460/arrested-hydrocephalus
#10
W Peter Vandertop
No abstract text is available yet for this article.
June 22, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29920626/in-memoriam-professor-hermann-doose
#11
Bernd A Neubauer, Ulrike Schara
No abstract text is available yet for this article.
June 19, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29913530/low-voice-spasmodic-dysphonia-and-hand-dystonia-as-clinical-clues-for-kmt2b-associated-early-onset-dystonia
#12
Annette Hackenberg, Matias Wagner, Jan Pahnke, Petra Zeitler, Eugen Boltshauser
No abstract text is available yet for this article.
June 18, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29913529/a-pilot-study-evaluating-cerebral-vasculitis-in-kawasaki-s-disease
#13
Jung Sook Yeom, Young Hye Cho, Chung Mo Koo, Jin Su Jun, Ji Sook Park, Eun Sil Park, Ji-Hyun Seo, Jae-Young Lim, Hyang-Ok Woo, Hee-Shang Youn
Cerebral vasculitis is thought to be a possible underlying mechanism of severe neurological complications of Kawasaki's disease (KD), such as cerebral infarct or aneurysm rupture. To evaluate the intracranial inflammatory response in patients with acute-stage KD, we measured the levels of cytokines (interleukin [IL]-6 and tumor necrosis factor [TNF]-α) and pentraxin-3 (PTX3) in the cerebrospinal fluid of patients with KD ( n  = 7) and compared the levels to those of the age- and sex-matched febrile control patients (bacterial meningitis [ n  = 5], enteroviral meningitis [ n  = 10], nonspecific viral illness without central nervous system involvement [ n  = 10])...
June 18, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29890518/management-of-primary-tectal-plate-low-grade-glioma-in-pediatric-patients-results-of-the-multicenter-treatment-study-siop-lgg-2004
#14
Ariane Kaufmann, Nicolas U Gerber, Daniela Kandels, Amedeo A Azizi, Rene Schmidt, Monika Warmuth-Metz, Torsten Pietsch, Rolf-Dieter Kortmann, Astrid K Gnekow, Michael A Grotzer
BACKGROUND:  Tectal plate low-grade gliomas (LGGs) most often present with increased intracranial pressure and sometimes as incidental findings from brain imaging. Prognostic factors predicting outcome are largely unknown. METHODS:  From 2004 until 2012, 71 patients with tectal plate LGG from Germany and Switzerland were followed within the SIOP-LGG 2004 study. Median age at diagnosis was 9.7 (range: 0.1-17.5) years, and median follow-up time of surviving patients was 6...
June 11, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29857345/clinical-and-electroencephalographic-correlates-in-pediatric-cardiac-arrest-experience-at-a-tertiary-care-center
#15
Garrett A Brooks, Jun T Park
Pediatric cardiac arrest is a significant cause of death and neurologic disability; however, there is a paucity of literature specifically evaluating the utility of prognostic factors in the pediatric population. This retrospective chart review examines clinical, laboratory, and electroencephalographic (EEG) data in children following cardiopulmonary arrest to better characterize findings that may inform prognosis. Pre-arrest clinical characteristics, resuscitation details, and post-arrest hospital course variables were analyzed and neurologic outcome was determined using the Pediatric Cerebral Performance Category scale...
June 1, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29801192/variants-in-the-atp1a3-gene-mutations-within-severe-apnea-starting-in-early-infancy-an-observational-study-of-two-cases-with-a-possible-relation-to-epileptic-activity
#16
Niklas Holze, Andreas van Baalen, Ulrich Stephani, Ingo Helbig, Hiltrud Muhle
Mutations in the ATP1A3 gene are known to cause alternating hemiplegia of childhood (AHC) and rapid-onset dystonia parkinsonism (RDP). Both conditions are childhood-onset neurological disorders with distinct symptoms and different times of onset. ATP1A3 has also been associated with CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss). Within the various ATP1A3 -related neurological syndromes, a specific genotype-phenotype correlation is starting to emerge...
May 25, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29801191/neonatal-alexander-disease-novel-gfap-mutation-and-comparison-to-previously-published-cases
#17
Oula Knuutinen, Maria Kousi, Maria Suo-Palosaari, Jukka S Moilanen, Hannu Tuominen, Leena Vainionpää, Tarja Joensuu, Anna-Kaisa Anttonen, Johanna Uusimaa, Anna-Elina Lehesjoki, Päivi Vieira
Alexander disease (AxD) is a genetic leukodystrophy caused by GFAP mutations leading to astrocyte dysfunction. Neonatal AxD is a rare phenotype with onset in the first month of life. The proband, belonging to a large pedigree with dominantly inherited benign familial neonatal epilepsy (BFNE), had a phenotype distinct from the rest of the family, with hypotonia and macrocephaly in addition to drug-resistant neonatal seizures. The patient deteriorated and passed away at 6 weeks of age. The pathological and neuroimaging data were consistent with the diagnosis of AxD...
May 25, 2018: Neuropediatrics
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
#18
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
#19
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
#20
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
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