Phase Contrast MRI Suggests an Internal Carotid Vascular Tone Alteration in Migraines
Conclusion The transitory nature of the observed modifications suggests a reversible alteration of the vascular tone of the ICA in patients with migraine. This alteration seems to follow recovery pattern of the patient. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - June 6, 2019 Category: Neurology Authors: Deverdun, Jeremy Leboucq, Nicolas Pfeuffer, Josef Rivier, Fran çois Bousquet, Elisa Benali, Amel Le Bars, Emmanuelle Tags: Review Article Source Type: research

Outcome of Nonketotic Hyperglycinemia in Lebanon: 14-Year Retrospective Review
Neuropediatrics DOI: 10.1055/s-0039-1692207Nonketotic hyperglycinemia is a rare inborn error of glycine metabolism characterized by a severe metabolic encephalopathy with drug-resistant seizures. Here, we report the outcome of nonketotic hyperglycinemia in a cohort of patients diagnosed and followed-up at a tertiary care reference center in Lebanon, between 2000 and 2014.Eight out of 12 patients with nonketotic hyperglycinemia were retrospectively reviewed. The remainders were excluded for incomplete data. The majority of cases presented with seizures and hypsarrhythmia or burst suppression patterns. Half of the patients d...
Source: Neuropediatrics - June 6, 2019 Category: Neurology Authors: Shbarou, Rolla M. Boustany, Rose Mary Daher, Rose T. Pakdel, Parisa Noureddine, Abir Karam, Pascale E. Tags: Original Article Source Type: research

Diffusion of the Corpus Callosum in Young Infants
Neuropediatrics DOI: 10.1055/s-0039-1692418 Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - June 6, 2019 Category: Neurology Authors: Groenendaal, Floris Tags: Letter to Editor Source Type: research

N-Methyl-D-Aspartate Receptor Encephalitis with Psychiatric Symptoms and an Ovarian Teratoma Detected by MRI in a 17-Year-Old Girl
Neuropediatrics DOI: 10.1055/s-0039-1692417N-methyl-D-aspartate receptor (NMDAR) encephalitis is a rare antibody-mediated autoimmune encephalitis often associated with an ovarian teratoma in adolescent females. Here we present a 17-year-old girl with only and unusual psychiatric symptoms as part of her NMDAR encephalitis in combination with a very small ovarian teratoma suspected by magnetic resonance (MR) imaging and finally histologically confirmed. We further review the literature of NMDAR encephalitis in combination with an ovarian teratoma and discuss the recommended radiological workup in children with a suspected ov...
Source: Neuropediatrics - June 4, 2019 Category: Neurology Authors: Barth, A. Nassenstein, I. Tr öbs, R.B. Tannapfel, A. Dercks, H. Rost ásy, K. Wegener-Panzer, A. Tags: Short Communication Source Type: research

Children and Youth with Complex Cerebral Palsy: Care and Management
Neuropediatrics DOI: 10.1055/s-0039-1685523 Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - June 3, 2019 Category: Neurology Authors: Kuenzle, Christoph Tags: Book Review Source Type: research

Trametinib Induces Neurofibroma Shrinkage and Enables Surgery
Neuropediatrics DOI: 10.1055/s-0039-1691830Plexiform neurofibromas are congenital peripheral nerve sheath tumors characteristic of neurofibromatosis type 1 (NF1)—a frequent neurocutaneous disorder caused by mutations of the NF1 tumor suppressor gene. Since plexiform neurofibromas are a major cause of the burden of disease and may also progress to malignancy, many efforts have been undertaken to find a cure for these tumors. However, neither surgery nor medication has so far produced a breakthrough therapeutic success. Recently, a clinical phase I study reported significant shrinkage of plexiform neurofibromas followi...
Source: Neuropediatrics - May 29, 2019 Category: Neurology Authors: Vaassen, Pia D ürr, Nikola R öhrig, Andreas Willing, Rainer Rosenbaum, Thorsten Tags: Short Communication Source Type: research

Young Adult Motor, Sensory, and Cognitive Outcomes and Longitudinal Development after Very and Extremely Preterm Birth
Neuropediatrics DOI: 10.1055/s-0039-1688955In this narrative review, we report on adult outcomes after very (before 32 weeks of gestation [wGA]) and extremely (before 28 wGA) preterm birth, with a focus on neuromotor function, neurosensory impairment, general cognitive abilities, executive function, and attentional abilities, all of which are important for academic progress, peer relationships, and participation. Longitudinal development from childhood to adulthood is described. Preterm born individuals have a higher risk for impairment of general cognitive abilities, executive function, attention, and neuromotor abilities...
Source: Neuropediatrics - May 29, 2019 Category: Neurology Authors: Vollmer, Brigitte St ålnacke, Johanna Tags: Review Article Source Type: research

Pott's Disease: An Emerging Source of Potentially Inappropriate Treatment
Neuropediatrics DOI: 10.1055/s-0039-1691833Spinal Tuberculosis in children is uncommon, even more so in cases of involvement of posterior vertebral elements, and its diagnosis is often delayed. Here we report the case of a young female presenting neuroradiological features and clinical symptoms suspicious for malignant tumor. Histological examination of biopsy specimen evidenced a Pott's disease. We highlight the importance of suspecting this disorder in children with both aspecific systemic and neurological symptoms, in order to reach a timely diagnosis for appropriate and targeted intervention, avoiding the risk of overt...
Source: Neuropediatrics - May 29, 2019 Category: Neurology Authors: Esposito, Silvia Moscatelli, Marco Schiariti, Marco Paolo Vigan ò, Ilaria Pantaleoni, Chiara Marucci, Gianluca Tags: Images in Neuropediatrics Source Type: research

Pelizaeus –Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation
Neuropediatrics DOI: 10.1055/s-0039-1688954 Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - May 28, 2019 Category: Neurology Authors: Scala, Marcello Traverso, Monica Capra, Valeria Vari, Maria Stella Severino, Mariasavina Grossi, Serena Zara, Federico Striano, Pasquale Minetti, Carlo Tags: Letter to Editor Source Type: research

Novel MECR Mutation in Childhood-Onset Dystonia, Optic Atrophy, and Basal Ganglia Signal Abnormalities
Neuropediatrics DOI: 10.1055/s-0039-1688767 Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - May 28, 2019 Category: Neurology Authors: Gorukmez, Orhan Gorukmez, Ozlem Haval ı, Cengiz Tags: Letter to Editor Source Type: research

Opening New Horizons in the Treatment of Childhood Onset Leukodystrophies
Neuropediatrics DOI: 10.1055/s-0039-1685529Leukodystrophies (LDs) predominantly affect the white matter of the central nervous system and its main component, the myelin. The majority of LDs manifests in infancy with progressive neurodegeneration. Main clinical signs are intellectual and motor function losses of already attained developmental skills. Classical LDs include lysosomal storage disorders like metachromatic leukodystrophy (MLD), peroxisomal disorders like X-linked adrenoleukodystrophy (X-ALD), disorders of mitochondrial dysfunction, and myelin protein defects like Pelizaeus-Merzbacher disease. So far, there are o...
Source: Neuropediatrics - May 21, 2019 Category: Neurology Authors: Schiller, Stina Henneke, Marco G ärtner, Jutta Tags: Review Article Source Type: research

Marc Tardieu –Recipient of the Honorary Award 2019
Neuropediatrics 2019; 50: 137-137 DOI: 10.1055/s-0039-1688552 Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - May 14, 2019 Category: Neurology Authors: Mall, Volker Tags: Editorial Source Type: research

Vertical Gaze Palsy in Kernicterus
Neuropediatrics DOI: 10.1055/s-0039-1685527 Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - May 7, 2019 Category: Neurology Authors: Garone, Giacomo Graziola, Federica Vigevano, Federico Capuano, Alessandro Tags: Videos and Images in Neuropediatrics Source Type: research

A Novel Homozygous Mutation in the FUCA1 Gene Highlighting Fucosidosis as a Cause of Dystonia: Case Report and Literature Review
Conclusion We report a novel homozygous mutation in FUCA1 as the cause of severe neurological phenotype including generalized dystonia. Early recognition of fucosidosis may be important for consideration of promising treatment options, such as bone marrow transplantation. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - May 7, 2019 Category: Neurology Authors: Wali, Gautam Wali, G. M. Sue, Carolyn M. Kumar, Kishore R. Tags: Short Communication Source Type: research

Differential Diagnosis in Neurology and Neurosurgery: A Clinician's Pocket Guide
Neuropediatrics DOI: 10.1055/s-0039-1688766 Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - May 2, 2019 Category: Neurology Authors: Boltshauser, Eugen Tags: Book Review Source Type: research

Using Artificial Intelligence to Identify Factors Associated with Autism Spectrum Disorder in Adolescents with Cerebral Palsy
Neuropediatrics DOI: 10.1055/s-0039-1685525Autism spectrum disorder (ASD) is common in adolescents with cerebral palsy (CP) and there is a lack of studies applying artificial intelligence to investigate this field and this population in particular. The aim of this study is to develop and test a predictive learning model to identify factors associated with ASD in adolescents with CP. This was a multicenter controlled cohort study of 102 adolescents with CP (61 males, 41 females; mean age ± SD [standard deviation] = 16.6 ± 1.2 years; range: 12–18 years). Data on e...
Source: Neuropediatrics - April 24, 2019 Category: Neurology Authors: Bertoncelli, Carlo M. Altamura, Paola Vieira, Edgar Ramos Bertoncelli, Domenico Solla, Federico Tags: Original Article Source Type: research

Factors Influencing Motor Outcome of Hippotherapy in Children with Cerebral Palsy
Conclusions The children with CP, GMFCS level I–III, with relatively poor postural control in sitting might have a greater chance to improve their GMFM-66 scores through hippotherapy. This supports the hypothesis that hippotherapy is a context-focused therapy to improve postural control in sitting. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - April 22, 2019 Category: Neurology Authors: Seung Mi, Yeo Ji Young, Lee Hye Yeon, Shin Yun Sik, Seo Jeong Yi, Kwon Tags: Original Article Source Type: research

A Hemimotor Deficit in an 18-Month-Old Boy Revealing Acute Myelitis
Neuropediatrics DOI: 10.1055/s-0039-1684051 Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - April 22, 2019 Category: Neurology Authors: Gelebart, Cl émentine Sacaze, Elise Peudenier, Sylviane Legeas, Olivier Ropars, Juliette Tags: Images in Neuropediatrics Source Type: research

Bright Spotty Lesions in the Myelon: A Hallmark of AQP-4 Positive Neuromyelitis Optica Spectrum Disorders
Neuropediatrics DOI: 10.1055/s-0039-1684030 Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - April 9, 2019 Category: Neurology Authors: Turco, Emanuela Claudia Greco, Francesca Ormitti, Francesca Pisani, Francesco Tags: Images in Neuropediatrics Source Type: research

A De Novo Dominant Negative Mutation in DNM1L Causes Sudden Onset Status Epilepticus with Subsequent Epileptic Encephalopathy
We describe a case of a previously healthy 3-year-old boy with a mild delay in speech development until the acute onset of a refractory status epilepticus with subsequent epileptic encephalopathy and very poor neurologic outcome. The de novo missense mutation in DNM1L (c.1207C > T, p.R403C), which we identified in this case, seems to determine a unique clinical course, strikingly similar to four previously described patients in literature with the identical de novo heterozygous missense mutation in DNM1L. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents...
Source: Neuropediatrics - April 2, 2019 Category: Neurology Authors: Schmid, S. J. Wagner, M. Goetz, C. Makowski, C. Freisinger, P. Berweck, S. Mall, V. Burdach, S. Juenger, H. Tags: Short Communication Source Type: research

Monocyte Chemoattractant Protein (MCP)-1 in Rotavirus-Associated White Matter Injury in Newborns
Neuropediatrics DOI: 10.1055/s-0038-1677516Recent reports have suggested an association between rotavirus infection and a distinctive pattern of white matter injury (WMI) in neonates with seizures; however, the connection between the two is not fully understood. To evaluate the underlying mechanism, we profiled and compared eight cytokines (IL [interleukin]-1β, IL-6, IL-8, IL-10, IFN-γ [interferon-γ ], MCP-1 [monocyte chemoattractant protein-1], MIP-1β [macrophage inflammatory protein-1β], and TNF-α [tumor necrosis factor-α]) in the cerebrospinal fluid (CSF) of 33 neonates with seizur...
Source: Neuropediatrics - April 2, 2019 Category: Neurology Authors: Yeom, Jung Sook Jo, Jae-Young Park, Ji Sook Kim, Young-Soo Chung, Ju-Young Han, Tae-Hee Seo, Ji-Hyun Park, Eun Sil Lim, Jae-Young Woo, Hyang-Ok Youn, Hee-Shang Park, Chan-Hoo Tags: Original Article Source Type: research

High Incidence of Renal Stones in Severely Disabled Children with Epilepsy Treated with Topiramate
Conclusion There is a high incidence of renal stone formation in severely disabled children treated with TPM. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - April 2, 2019 Category: Neurology Authors: Ishikawa, Nobutsune Tani, Hiroo Kobayashi, Yoshiyuki Kato, Akira Kobayashi, Masao Tags: Original Article Source Type: research

Neurodevelopmental Disorders and Array-Based Comparative Genomic Hybridization: Sensitivity and Specificity using a Criteria Checklist for Genetic Test Performance
Neuropediatrics DOI: 10.1055/s-0039-1685216 Background Array-based comparative genomic hybridization (aCGH) is a molecular analysis method for identifying chromosomal anomalies or copy number variants (CNVs) correlating with clinical phenotypes. The aim of our study was to identify the most significant clinical variables associated with a positive outcome of aCGH analyses to develop a simple predictive clinical score. Methods We conducted a cross-sectional study in a tertiary center comparing the genotype and phenotype of the cases. A score was developed using multivariate logistic regression. The best scor...
Source: Neuropediatrics - April 2, 2019 Category: Neurology Authors: Amado-Puentes, Alfonso Reparaz-Andrade, Alfredo Campo-Garc ía, Aida Del Blanco-Barca, Manuel Óscar Salgado-Barreira, Ángel Campo-P érez, Víctor Del Fern ández-Lorenzo, José Ramón Tags: Original Article Source Type: research

Cranial Neuroimaging and Clinical Neuroanatomy
Neuropediatrics DOI: 10.1055/s-0039-1685215 Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - April 2, 2019 Category: Neurology Authors: Boltshauser, Eugen Tags: Book Review Source Type: research

Two Cases of Pediatric AQP4-Antibody Positive Neuromyelitis Optica Spectrum Disorder Successfully Treated with Tocilizumab
We report two female adolescents with AQP4-antibody positive NMOSD who relapsed under rituximab treatment and clinically stabilized after switching to monthly administrations of tocilizumab. Our data suggest that early escalation of therapy with tocilizumab may lead to stabilization of disease activity in pediatric NMOSD patients who relapse under B cell depletion. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - March 26, 2019 Category: Neurology Authors: Breu, Markus Glatter, Sarah H öftberger, Romana Freilinger, Michael Kircher, Karl Kasprian, Gregor Seidl, Rainer Kornek, Barbara Tags: Short Communication Source Type: research

Symmetrical Thalamic Lesions in the Newborn: A Case Series
Neuropediatrics DOI: 10.1055/s-0039-1683864Although bilateral injury to the thalami is often seen in (near)term infants with hypoxic ischemic encephalopathy (HIE), symmetrical thalamic lesions (STL) is a different, very rare condition, seen both in full-term and preterm infants often after an antenatal insult, although the history is not always clear. These lesions are usually first detected using cranial ultrasound (cUS). They may not always be seen on the first (admission) scan, but become apparent in the course of the 1st week after birth. Clinically, these infants present with hypo- or hypertonia, absence of sucking an...
Source: Neuropediatrics - March 26, 2019 Category: Neurology Authors: Pols, T. de Vries, L.S. Salamon, A. Soltirovska Nikkels, P.G.J. Lichtenbelt, K.D. Mulder-de Tollenaer, S.M. Wezel-Meijler, G. van Tags: Original Article Source Type: research

Clinical Pathways in Neuro-Ophthalmology
Neuropediatrics DOI: 10.1055/s-0039-1684005 Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - March 26, 2019 Category: Neurology Authors: Boltshauser, Eugen Tags: Book Review Source Type: research

Abstracts of the 47th Annual Meeting of the SENP (Soci été Européenne de Neurologie Pédiatrique)–Paris, March 22–23, 2019
Neuropediatrics 2019; 50: e1-e1 DOI: 10.1055/s-0039-1685144 Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - March 26, 2019 Category: Neurology Authors: Fazzi, Elisa Tags: Editorial Source Type: research

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Neuropediatrics 2019; S 01 Article in Thieme eJournals: Table of contents  |  Congress (Source: Neuropediatrics)
Source: Neuropediatrics - March 20, 2019 Category: Neurology Source Type: research

“Restricted Diffusion” within the Splenium of the Corpus Callosum: A Potential Pitfall in Young Infants on 3T Imaging and Marker of Normal Myelin Maturation
Neuropediatrics DOI: 10.1055/s-0039-1679899 Purpose To determine the prevalence of “restricted diffusion” within the splenium of the corpus callosum (SOCC) on 3 Tesla (T) and 1.5T imaging systems and to establish the contribution of myelin maturation to the presence of “restricted diffusion” within the SOCC. Materials and Methods The imaging database at our hospital was queried to build three cohorts of patients: (1) age 
Source: Neuropediatrics - March 15, 2019 Category: Neurology Authors: Tan, Ai Peng Lim, Yi Ting Tags: Original Article Source Type: research

Positive Short-Term Effect of Low-Dose Rosuvastatin in a Patient with SYNGAP1-Associated Epilepsy
Neuropediatrics DOI: 10.1055/s-0039-1681066 Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - March 15, 2019 Category: Neurology Authors: Kluger, Gerhard von St ülpnagel-Steinbeis, Celina Arnold, Stephan Eschermann, Kirsten Hartlieb, Till Tags: Letter to Editor Source Type: research

Aicardi's Diseases of the Nervous System in Childhood
Neuropediatrics DOI: 10.1055/s-0039-1683412 Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - March 15, 2019 Category: Neurology Authors: Boltshauser, Eugen Tags: Book Review Source Type: research

RadCases Plus Q & A Neuro Imaging
Neuropediatrics DOI: 10.1055/s-0039-1683413 Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - March 7, 2019 Category: Neurology Authors: Boltshauser, Eugen Tags: Book Review Source Type: research

Appearance of FCD Type II Changes with Brain Maturation in Early Childhood
Neuropediatrics DOI: 10.1055/s-0039-1683381 Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - March 1, 2019 Category: Neurology Authors: Jain, Puneet Whitney, Robyn Widjaja, Elysa Tags: Images in Neuropediatrics Source Type: research

Hypomyelinating Leukodystrophy with Spinal Cord Involvement Caused by a Novel Variant in RARS: Report of Two Unrelated Patients
Neuropediatrics DOI: 10.1055/s-0039-1679911Leukodystrophies are heterogeneous group of genetic white matter disorders with a wide range of neurologic and systemic manifestations. Defects in genes encoding aminoacyl tRNA (transfer ribonucleic acid) synthetase enzymes (aaRSs) are recently identified as the etiology of some leukodystrophies. Herein, we described two unrelated children referred to Children's Medical Center, Tehran, Iran, with developmental delay, nystagmus, seizures, psuedo-bulbar palsy and dystonia. Whole exome sequencing (WES) in both patients identified a homozygous (c.2T > C) variant in ex...
Source: Neuropediatrics - February 21, 2019 Category: Neurology Authors: Rezaei, Zahra Hosseinpour, Sareh Ashrafi, Mahmoud Reza Mahdieh, Nejat Alizadeh, Houman Mohammadpour, Masoud Khosroshahi, Nahideh Amanat, Man Tavasoli, Ali Reza Tags: Short Communication Source Type: research

Is Asymmetry of the Pons Associated with Hand Function and Manual Ability after Arterial Ischemic Stroke in Children?
This study was designed to investigate how the asymmetry of the brain stem is related to hand function and manual ability after arterial ischemic stroke (AIS) diagnosed during childhood. Method Patients diagnosed with AIS during childhood (> 5 years old, diagnosis > 2 years before recruitment) and typically developing peers were recruited by the Swiss Neuropediatric Stroke Registry. Brainstem cross-sectional areas of each side at the level of the pons were measured. Pinch and grip strength were measured with a dynamometer, quality of upper limb movement by the Melbourne Assessment 2 and manual a...
Source: Neuropediatrics - February 5, 2019 Category: Neurology Authors: Slavova, Nedelina Shojai, Max Philipp Everts, Regula Wiest, Roland Steinlin, Maja Grunt, Sebastian Tags: Original Article Source Type: research

The Persistent Generalized Muscle Contraction in Siblings with Molybdenum Cofactor Deficiency Type A
We describe the clinical, radiologic, biochemical, and genetic data of two patients (female siblings aged 26 and 22 years) with MoCD-A. Both patients presented with feeding difficulties, neurological deterioration, and persistent generalized muscle contraction which can be easily confused with status dystonicus. Biochemical tests revealed low serum uric acid, elevated urinary sulfocysteine, and xanthine. Brain magnetic resonance imaging (MRI) revealed distinctive abnormalities in the bilateral caudate nucleus, putamen, globus pallidus, and cerebral white matter adjacent to the cortex. The thalamus was relatively unaffected...
Source: Neuropediatrics - January 29, 2019 Category: Neurology Authors: Yoshimura, Ayumi Kibe, Tetsuya Hasegawa, Hiroshi Ichida, Kimiyoshi Koshimizu, Eriko Miyatake, Satoko Matsumoto, Naomichi Yokochi, Kenji Tags: Short Communication Source Type: research

Postnatal Paraclinical Parameters Associated to Occurrence of Intracerebral Hemorrhage in Preterm Infants
Neuropediatrics DOI: 10.1055/s-0038-1677515Intracerebral hemorrhage (ICH) is the most frequent complication in postnatal development of preterm infants. The purpose of the present work is the statistical evaluation of seven standard paraclinical parameters and their association to the development of ICH. Clinical records of 265 preterm infants with gestational age (GA) 23 to 30 weeks were analyzed. According to ICH status, patients were divided into control (without ICH) and affected (with ICH) groups. Mean values of paraclinical parameters at each week of gestation were compared. Different ICH grades, periods before and a...
Source: Neuropediatrics - January 29, 2019 Category: Neurology Authors: Lampe, Ren ée Turova, Varvara Botkin, Nikolai Eckardt, Laura Felderhoff-M üser, Ursula Rieger-Fackeldey, Esther Alves-Pinto, Ana Kovtanyuk, Andrey Sidorenko, Irina Tags: Original Article Source Type: research

Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic
Neuropediatrics DOI: 10.1055/s-0039-1677734Next-generation sequencing is a powerful diagnostic tool, yet it has proven inadequate to establish a diagnosis in all cases of congenital hypotonia or childhood onset weakness. We sought to describe the impact of whole exome sequencing (WES), which has only recently become widely available clinically, on molecular diagnosis in the Nationwide Children's Hospital Neuromuscular clinics. We reviewed records of all patients in our clinic with pediatric onset of symptoms who had WES done since 2013. Patients were included if clinical suspicion was high for a neuromuscular disease. Clin...
Source: Neuropediatrics - January 21, 2019 Category: Neurology Authors: Waldrop, Megan A. Pastore, Matthew Schrader, Rachel Sites, Emily Bartholomew, Dennis Tsao, Chang-Yong Flanigan, Kevin M. Tags: Original Article Source Type: research

Homozygous TANGO2 Single Nucleotide Variants Presenting with Additional Manifestations Resembling Alternating Hemiplegia of Childhood –Expanding the Phenotype of a Recently Reported Condition
This report also reiterates the utility of WES in diagnosing newly recognized neurogenetic conditions. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - January 16, 2019 Category: Neurology Authors: Sen, Kuntal Hicks, Melissa A. Huq, A.H.M. Agarwal, Rajkumar Tags: Short Communications Source Type: research

Brain Aneurysms in the Pediatric Population of Slovenia: A Case Series
Conclusion Endovascular interventions and microsurgical procedures appear to be safe and effective in the treatment of brain aneurysms in the pediatric population. Asymptomatic patients with brain aneurysms need close follow-up. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - January 10, 2019 Category: Neurology Authors: Ilovar, Sa ša Benedik, Mirjana Perkovi ć Vesnaver, Tina Vipotnik Osredkar, Damjan Tags: Short Communication Source Type: research

Japanese Encephalitis Virus-Induced Anti-N-Methyl-D-Aspartate Receptor Encephalitis: A Case Report and Review of Literature
Neuropediatrics DOI: 10.1055/s-0038-1675607Anti-N-methyl-D-aspartate receptor encephalitis (anti-NMDARe) was originally described as a paraneoplastic disease with more than 50% cases involving a tumor. However, tumor incidence in anti-NMDARe in children is much lower. Herpes simplex virus-induced anti-NMDARe has been well-described; however, findings on Japanese encephalitis virus (JEV)-induced anti-NMDARe are scarce. Here, we describe a 7-year-old boy who presented with fever and headache that progressed to seizures and disturbance of consciousness. Brain magnetic resonance imaging (MRI) revealed abnormalities in the bila...
Source: Neuropediatrics - January 8, 2019 Category: Neurology Authors: Tian, Maoqiang Li, Juan Lei, Wenting Shu, Xiaomei Tags: Short Communication Source Type: research

A Hidden Cause of MERS and HLH in a Girl: Unusual Presentation of Hantaviruses Infection
Neuropediatrics DOI: 10.1055/s-0038-1675630 Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - January 8, 2019 Category: Neurology Authors: Tian, Maoqiang Li, Juan Lei, Wenting Shu, Xiaomei Tags: Images in Neuropediatrics Source Type: research

Daily Functioning and Quality of Life in Patients with Sj ögren–Larsson Syndrome
Discussion Despite the large disruptions of daily functioning, patients with SLS are according to their parents generally content with their quality of life and participation. There was a broad range in reported problems. We found it very useful to systematically ask parents about their children's feelings and needs, to better understand the meaning of living with a complex disorder like SLS. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - January 4, 2019 Category: Neurology Authors: Staps, Pippa de Groot, Imelda J.M. van Gerven, Marjo H.J.C. Willemsen, Mich èl A.A.P. Tags: Original Article Source Type: research

Muscle-Specific Kinase Autoimmune Myasthenia Gravis: Report of a Pediatric Case and Literature Review
We report clinical, neurophysiological, serological, and outcome profile of a Tunisian child with MuSK-MG. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - December 21, 2018 Category: Neurology Authors: Ben Younes, Thouraya Benrhouma, Hanene Klaa, Hedia Ben Aoun, Rania Rouissi, Aida Ben Ahmed, Melika Kraoua, Ichraf Ben Youssef-Turki, Ilhem Tags: Short Communication Source Type: research

Assessing and Improving Documentation of Pediatric Brain Death Determination within an Electronic Health Record
Conclusions Pediatric BDD is a rare process subject to documentation omissions and error. Our findings highlight the variability of pediatric BDD electronic documentation among different providers and specialties at our institution. An approach to improving pediatric BDD documentation may start with completing a standardized electronic brain death document. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - December 20, 2018 Category: Neurology Authors: Krawiec, Conrad Ceneviva, Gary D. Thomas, Neal J. Tags: Original Article Source Type: research

Unresponsive Wakefulness Syndrome in Children after Near-Drowning: Long-Term Outcome and Impact on the Families
In conclusion, we found that after 4 weeks in UWS, the long-term neurological outcome of pediatric ND victims is often but not always poor. Despite often severe disabilities or death of the child during long-term care, parents surprisingly report little impact on their HRQoL, on the stability of their partnership or on their wish to have further children. Our findings may help parents and physicians to choose the best treatment for a child in UWS due to different etiologies striking the balance between rehabilitation and palliative care. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: T...
Source: Neuropediatrics - December 20, 2018 Category: Neurology Authors: Kluger, Gerhard Josef Kirsch, Andreas Hessenauer, Melanie Aust, Holger Berweck, Steffen Sperl, Wolfgang Betzler, Cornelia von St ülpnagel-Steinbeis, Celina Staudt, Martin Tags: Original Article Source Type: research

A Female Patient with Xq28 Microduplication Presenting with Myotubular Myopathy, Confirmed with a Custom-Designed X-array
We report a severely affected girl with XLMTM, caused by maternally inherited 661 kb Xq28 microduplication identified by chromosomal microarray analysis and confirmed also on DNA from muscle biopsy with a custom-designed X-chromosome-specific microarray. X-inactivation analysis revealed a skewed inactivation pattern on the proband's muscle biopsy. Muscle biopsy histopathology was indicative of increased variability in fiber diameter, marked and diffuse endomysial proliferation of adipose and connective tissues, as well as predominance of type 1 fibers. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle ...
Source: Neuropediatrics - December 12, 2018 Category: Neurology Authors: Kosma, Konstantina Mitrakos, Anastasios Sofokleous, Christalena Papadimas, George Fryssira, Helena Kitsiou-Tzeli, Sofia Tzetis, Maria Tags: Short Communication Source Type: research

UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood
Conclusions Our report expands the complex phenotype of neurodegeneration associated with the c.628G > A variant in the UBTF gene and helps to clarify the relation between this one single recurrent pathogenic variant described in this gene to date and its phenotype. The UBTF gene should be considered a novel candidate gene in neurodegeneration with or without epilepsy. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - December 5, 2018 Category: Neurology Authors: Sedl áčková, Lucie La ššuthová, Petra Štěrbová, Katalin Haberlov á, Jana Vyhn álková, Emílie Neupauerov á, Jana Stan ěk, David Šedivá, Marie Kr šek, Pavel Seeman, Pavel Tags: Short Communication Source Type: research

Mycoplasma Pneumoniae and Antibodies against Galactocerebroside in a 9-Year-Old Boy with Encephalitis
We report the case of a 9 year-old boy, presenting with an acute encephalitis with cerebrospinal fluid pleiocytosis. MRI showed T2/FLAIR (fluid attenuated inversion recovery) hyperintense signals of basal ganglia and cortex, EEG (electro encephalogram) showed diffuse slowing with epileptic discharges. A repetitively elevated IgM/IgG serologic response against Mycoplasma pneumoniae was observed with polymerase chain reaction in serum and cerebrospinal fluid remaining negative. No other pathogen or antigen could be identified. High IgG and IgM levels against the glycolipid galactocerebroside were detected in serum but not in...
Source: Neuropediatrics - November 26, 2018 Category: Neurology Authors: Smolders, Joost Jacobs, Bart C. Tio-Gillen, Anne P. Nijhuis, Frouke Verrips, Aad Tags: Short Communication Source Type: research