Neuropediatrics

Issue 01 · February 2022

Original Article
001
Bębenek, Adam K.; Kwiatkowski, Stanisław; Milczarek, Olga:
Potential Risk Factors for Ventriculoperitoneal Shunt Implantation in Paediatric Patients with Posthemorrhagic Hydrocephalus of Prematurity Treated with Subcutaneous Reservoir: An Institutional Experience

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007
Galli, Jessica; Loi, Erika; Morandi, Alessandra; Scaglioni, Vera; Rossi, Andrea; Molinaro, Anna; Pasini, Nadia; Semeraro, Francesco; Ruberto, Giulio; Fazzi, Elisa:
Neurodevelopmental Profile in Children Affected by Ocular Albinism

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PDF (193 kb)

Supplementary Material

Supplementary Material (PDF)
015
Stern, Tomer; Kornreich, Liora; Goldberg, Hadassa:
Yield of Brain Magnetic Resonance Imaging in Epilepsy Diagnosis from 1998 to 2020: A Large Retrospective Cohort Study

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PDF (143 kb)
020
Madaan, Priyanka; Kaur, Amrit; Saini, Lokesh; Paria, Pradip; Vyas, Sameer; Sharma, Amit R.; Sahu, Jitendra K.:
PPP2R5D-Related Neurodevelopmental Disorder or Developmental and Epileptic Encephalopathy?: A Novel Phenotypic Description and Review of Published Cases

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PDF (316 kb)
026
Righini, Andrea; Izzo, Giana; Doneda, Chiara; Scelsa, Barbara; Parazzini, Cecilia:
School-Age Outcome of Fetuses with Isolated Complete Septum Pellucidum Agenesis at Prenatal Magnetic Resonance Imaging

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PDF (172 kb)
032
Wang, Wenhui; Han, Hong; Du, Lijun; Li, Zhaoyang; Wu, Yunhong:
Clinical Features and Outcomes of Streptococcus pneumoniae Meningitis in Children: A Retrospective Analysis of 26 Cases in China
Open Access

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PDF (194 kb)

Supplementary Material

Supplementary Material (PDF)
039
Holzwarth, Johanna; Minopoli, Nadja; Pfrimmer, Charlotte; Smitka, Martin; Borrel, Sabine; Kirschner, Janbernd; Muschol, Nicole; Hartmann, Hans; Hennermann, Julia B.; Neubauer, Bernd A.; Hobbiebrunken, Elke; Husain, Ralf A.; Hahn, Andreas:
Clinical and Genetic Aspects of Juvenile Onset Pompe Disease
FREE ACCESS

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PDF (157 kb)
046
Sourbron, Jo; Jansen, Katrien; Mei, Davide; Hammer, Trine Bjørg; Møller, Rikke S.; Gold, Nina B.; O'Grady, Lauren; Guerrini, Renzo; Lagae, Lieven:
SLC7A3: In Silico Prediction of a Potential New Cause of Childhood Epilepsy
FREE ACCESS

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PDF (143 kb)

Supplementary Material

Supplementary Material (PDF)
052
Vaassen, Pia; Dürr, Nikola Reinhard; Rosenbaum, Thorsten:
Treatment of Plexiform Neurofibromas with MEK Inhibitors: First Results with a New Therapeutic Option

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PDF (360 kb)
Short Communication
061
Brisca, Giacomo; Sotgiu, Stefano; Pirlo, Daniela; Tubino, Barbara; Siri, Laura; Chianucci, Benedetta; Carta, Alessandra; Rossi, Andrea; Mallamaci, Marisa; Cataldi, Matteo; Mancardi, Maria Margherita:
Longitudinally Extensive Transverse Myelitis (LETM) and Myopericarditis in a 7-Month-Old Child with SARs-CoV-2 Infection

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PDF (129 kb)
065
Murofushi, Yuka; Hayakawa, Itaru; Abe, Yuichi; Ohto, Tatsuyuki; Murayama, Kei; Suzuki, Hisato; Takenouchi, Toshiki; Kosaki, Kenjiro; Kubota, Masaya:
Ketogenic Diet for KARS-Related Mitochondrial Dysfunction and Progressive Leukodystrophy

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PDF (266 kb)

Supplementary Material

Supplementary Material (PDF)
Resident and Fellow Section: Short Communication
069
Cordani, Ramona; Pisciotta, Livia; Mancardi, Maria Margherita; Stagnaro, Michela; Prato, Giulia; Giacomini, Thea; Morana, Giovanni; Walsh, Peter; Ghia, Twinkle; Nobili, Lino; De Grandis, Elisa:
Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review
FREE ACCESS

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PDF (502 kb)
Videos and Images in Neuropediatrics
075
Herman, Isabella; Calame, Daniel G.:
Clinical and Neuroimaging Features of Peroxisomal Disorders

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PDF (101 kb)
078
Franco, Igor de Assis; Vale, Thiago Cardoso; Freitas, Leonardo Furtado; Barbosa, André Vinícius Soares; Aragão, Marcelo de Melo; Rodrigues, Marcelo Masruha:
Obstructive Hydrocephalus Presenting with Bobble-Head Doll Syndrome

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PDF (120 kb)
Book Review
080
Natalucci, Giancarlo:
Extremely Preterm Birth and Its Consequences—The ELGAN Study

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PDF (46 kb)
081
Maier, Oliver:
Principles and Practice of Child Neurology in Infancy

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PDF (51 kb)

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Neuropediatrics

Potential Risk Factors for Ventriculoperitoneal Shunt Implantation in Paediatric Patients with Posthemorrhagic Hydrocephalus of Prematurity Treated with Subcutaneous Reservoir: An Institutional Experience

Neurodevelopmental Profile in Children Affected by Ocular Albinism

Yield of Brain Magnetic Resonance Imaging in Epilepsy Diagnosis from 1998 to 2020: A Large Retrospective Cohort Study

PPP2R5D-Related Neurodevelopmental Disorder or Developmental and Epileptic Encephalopathy?: A Novel Phenotypic Description and Review of Published Cases

School-Age Outcome of Fetuses with Isolated Complete Septum Pellucidum Agenesis at Prenatal Magnetic Resonance Imaging

Clinical Features and Outcomes of Streptococcus pneumoniae Meningitis in Children: A Retrospective Analysis of 26 Cases in China

Clinical and Genetic Aspects of Juvenile Onset Pompe Disease

SLC7A3: In Silico Prediction of a Potential New Cause of Childhood Epilepsy

Treatment of Plexiform Neurofibromas with MEK Inhibitors: First Results with a New Therapeutic Option

Longitudinally Extensive Transverse Myelitis (LETM) and Myopericarditis in a 7-Month-Old Child with SARs-CoV-2 Infection

Ketogenic Diet for KARS-Related Mitochondrial Dysfunction and Progressive Leukodystrophy

Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review

Clinical and Neuroimaging Features of Peroxisomal Disorders

Obstructive Hydrocephalus Presenting with Bobble-Head Doll Syndrome

Extremely Preterm Birth and Its Consequences—The ELGAN Study

Principles and Practice of Child Neurology in Infancy