A Novel Hypomorphic CSF1R Gene Mutation in the Biallelic State Leading to Fatal Childhood Neurodegeneration
We report the clinical and molecular characterization of a novel biallelic mutation in the CSF1R gene leading to an autosomal recessive form of childhood onset leukoencephalopathy in a consanguineous family. The female child experienced acute encephalopathy at the age of 2 years, followed by spasticity and loss of all achieved milestones over 6 months. Her elder brother presented with encephalopathy at 4 years of age, with a subsequent loss of all achieved milestones over 8 months. Brain imaging in both children revealed multiple well-defined areas of calcification in the parietal and frontal regions and the occipital horn...
Source: Neuropediatrics - May 28, 2020 Category: Neurology Authors: Tamhankar, Parag Mohan Zhu, Bin Tamhankar, Vasundhara Parag Mithbawkar, Shilpa Seabra, Luis Livingston, John H. Ikeuchi, Takeshi Crow, Yanick J. Tags: Short Communication Source Type: research

Response To: Overlapping Phenotype from Double Trouble SMARCA2 and POLG1 Variants c.2556A   >  C and c.3708G  >  T, Respectively
Neuropediatrics DOI: 10.1055/s-0040-1712486 Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - May 28, 2020 Category: Neurology Authors: von St ülpnagel, Celina Hofmeister, Benedikt Berweck, Steffen Kluger, Gerhard Weber, Peter Tags: Letter to Editor Source Type: research

Whole-Exome Sequencing in NF1-Related West Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy
Neuropediatrics DOI: 10.1055/s-0040-1710524Patients with neurofibromatosis type 1 (NF1) have an increased risk for West syndrome (WS), but the underlying mechanisms linking NF1 and WS are unknown. In contrast to other neurocutaneous syndromes, intracerebral abnormalities explaining the course of infantile spasms (IS) are often absent and the seizure outcome is usually favorable. Several studies have investigated a potential genotype–phenotype correlation between NF1 and seizure susceptibility, but an association was not identified. Therefore, we identified three patients with NF1-related WS (NF1-WS) in a cohort of 51...
Source: Neuropediatrics - May 11, 2020 Category: Neurology Authors: Rademacher, Annika Schwarz, Niklas Seiffert, Simone Pendziwiat, Manuela Rohr, Axel van Baalen, Andreas Helbig, Ingo Weber, Yvonne Muhle, Hiltrud Tags: Short Communication Source Type: research

Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/RTN4IP1 Pathogenic Variant
Neuropediatrics DOI: 10.1055/s-0040-1708539 RTN4IP1 pathogenic variants (OPA10 syndrome) have been described in patients with early-onset recessive optic neuropathy and recently associated with a broader clinical spectrum, from isolated optic neuropathy to severe encephalopathies with epilepsy. Here we present a case of a patient with a complex clinical picture characterized by bilateral optic nerve atrophy, horizontal nystagmus, myopia, mild intellectual disability, generalized chorea, isolated small subependymal heterotopia, and asynchronous self-resolving midbrain MRI (magnetic resonance imaging) lesions. By using ma...
Source: Neuropediatrics - May 11, 2020 Category: Neurology Authors: Giacomini, Thea Gamucci, Alessandra Pisciotta, Livia Nesti, Claudia Fiorillo, Chiara Doccini, Stefano Morana, Giovanni Nobili, Lino Santorelli, Filippo M. Mancardi, Maria Margherita De Grandis, Elisa Tags: Short Communication Source Type: research

Expanding Clinical Phenotype of TRAPPC12-Related Childhood Encephalopathy: Two Cases and Review of Literature
We report two patients carrying TRAPPC12 variants, one previously reported and one unknown mutation, with severe neurodevelopmental delay and brain atrophy. Standard clinical examination and cranial imaging studies were performed in these two unrelated patients. In addition, whole-exome sequencing was performed, followed by Sanger sequencing for verification. The first patient, a 2-year-old boy, was found to be homozygous for the previously reported c.1880C > T (p.Ala627Val) mutation. He presented with a phenotype including severe progressive cortical atrophy, moderate cerebellar atrophy, epilepsy, and mic...
Source: Neuropediatrics - May 5, 2020 Category: Neurology Authors: Aslanger, Ayca Dilruba Demiral, Emine Sonmez-Sahin, Seyma Guler, Serhat Goncu, Beyza Yucesan, Emrah Iscan, Ak ın Saltik, Sema Yesil, Gozde Tags: Short Communication Source Type: research

Cardiac Myxoma as a Rare Cause of Pediatric Arterial Ischemic Stroke: Case Report and Literature Review
Conclusion Neurological presentation of AIS due to cardiac myxoma is similar to that of AIS with other etiologies, although clues suggesting a possible underlying cardiac myxoma can be detected in most cases. A timely diagnosis of cardiac myxoma in patients with AIS may favor prompt identification of candidates for endovascular therapy. Therefore, we suggest that in otherwise-healthy children presenting with AIS, transthoracic echocardiography should be performed early after stroke presentation. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  | &nb...
Source: Neuropediatrics - May 5, 2020 Category: Neurology Authors: Tona, Clarissa Nosadini, Margherita Pelizza, Maria F. Pin, Jacopo N. Baggio, Laura Boniver, Clementina Gabrieli, Joseph D. Causin, Francesco Toldo, Irene Sartori, Stefano Tags: Review Article Source Type: research

Is Exercise-Induced Fatigue a Problem in Children with Duchenne Muscular Dystrophy?
Conclusion Our data show that fatigue does not play a relevant role in DMD. Analysis of fatigue is not a useful outcome parameter in DMD studies. For this reason we suggest the 2MWT, which is better accepted by the patients, as an alternative to the commonly 6MWT. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - May 5, 2020 Category: Neurology Authors: Blaschek, Astrid Rodrigues, Martin Ille, Lena Idriess, Mohammed Well, Therese Warken, Birgit M üller, Christine Hannibal, Iris Tacke, Moritz M üller-Felber, Wolfgang Vill, Katharina Tags: Original Article Source Type: research

Reflex Epilepsy with Hot Water: Clinical and EEG Findings, Treatment, and Prognosis in Childhood
We describe our patients with HWE and also discuss the clinical features, therapeutic approaches, and prognosis. Eleven patients (10 boys, 1 girl), aged 12 months to 13 years, admitted to the pediatric neurology clinic between January 2018 and August 2019, and diagnosed with HWE or bathing epilepsy based on International League Against Epilepsy (ILAE)-2017, were followed up prospectively for ∼18 months. Patients' clinical and electroencephalography (EEG) findings and treatment details were noted. All 11 patients' seizures were triggered by hot water. Age at first seizure was between 2 months and 12 years. Seizure types...
Source: Neuropediatrics - April 15, 2020 Category: Neurology Authors: Hanci, Fatma T üray, Sevim Balci, Pa şa Kabaku ş, Nimet Tags: Original Article Source Type: research

Chorioretinal Lacunae in Aicardi's Syndrome: Key for the Diagnosis
Neuropediatrics DOI: 10.1055/s-0040-1709454 Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - April 15, 2020 Category: Neurology Authors: de Leeuw, Carola Kurver, Anne Verrips, Aad Tags: Images in Neuropediatrics Source Type: research

The “Ivy-Sign” in Moyamoya Disease—From MRI Pattern to Diagnosis
We report on three patients with MMD in whom the “ivy-sign” was already present but misinterpreted in the initial MRI of the brain. The correct diagnosis was made only after repeated MRI.Using three case studies, we describe the difficulties in the interpretation of the “ivy-sign” as an MRI pattern. Knowledge of the “ivy-sign” can be helpful, especially in diseases predisposing to MMD. If this MRI pattern is present, MMD should be considered and MR angiography should be added. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents &nbs...
Source: Neuropediatrics - March 31, 2020 Category: Neurology Authors: Gburek-Augustat, Janina Sorge, Ina Merkenschlager, Andreas Tags: Original Article Source Type: research

Are Epileptic Spasms a Seizure Type for the Insular Region?
Neuropediatrics DOI: 10.1055/s-0040-1702226Two patients with insular and striatal postnatal scar had epileptic spasms (ES) that were asymmetrical and the only seizure type, whereas none of the usual ictal symptoms of insular seizures occurred. Ictal electroencephalography (EEG) showed the high-amplitude slow-wave characteristic of ES. Vigabatrin remained efficient for over 4 years for one patient and right into the third decade for the other one. Such ES are distinct from infantile and late onset spasms. Furthermore, these observations suggest that in ES insular epilepsy triggers paroxysmal activation of the striatum, and ...
Source: Neuropediatrics - March 28, 2020 Category: Neurology Authors: Kharytonov, Volodymyr Dulac, Olivier Tags: Short Communication Source Type: research

AGRN Gene Mutation Leads to Congenital Myasthenia Syndromes: A Pediatric Case Report and Literature Review
We report the case of an 8-year-old female who exhibited the onset of motor development retardation from infancy and slow progression to proximal muscle weakness. Repeated nerve stimulation at 3 Hz showed a clear decrement with 17%. Whole exon sequencing showed an AGRN gene compound heterozygous mutation (c.5009C>T and c.5078T > C). She was treated with salbutamol but without improvement. Then pseudoephedrine was adapted as a treatment choice and obtained remarkable curative effect. We have summarized and analyzed 12 patients who have been reported in the literature. An early age of onset and mus...
Source: Neuropediatrics - March 28, 2020 Category: Neurology Authors: Gan, Siyi Yang, Haiyan Xiao, Ting Pan, Zou Wu, Liwen Tags: Short Communication Source Type: research

Acute Cerebellitis and Atypical Posterior Reversible Encephalopathy Syndrome Associated with Methadone Intoxication
We report a case of a 9-year-old boy who presented with altered mental status and ataxia following 3 days of vomiting. Shortly after arrival to our emergency department, he declined and required intubation. The following day, he recovered and was successfully extubated. He was found to be positive for methadone on his urine drug screen. Brain imaging demonstrated a pattern of acute cerebellitis. Following extubation, the patient returned to his normal mental status; however, he began to have consistently elevated blood pressure and bradycardia and subsequent brain imaging showed supratentorial changes that were related to ...
Source: Neuropediatrics - March 20, 2020 Category: Neurology Authors: Salloum, Shafee Reyes, Irma Ey, Elizabeth Mayne, Dustin White, Kristen Tags: Short Communication Source Type: research

The Cerebral Palsies —Using a Common Language in Research Allows New Insights
Neuropediatrics 2020; 51: 087-088 DOI: 10.1055/s-0040-1708513 Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - March 20, 2020 Category: Neurology Authors: Kr ägeloh-Mann, Ingeborg Tags: Editorial Source Type: research

Use of Perampanel and a Ketogenic Diet in Nonketotic Hyperglycinemia: A Case Report
Conclusion Perampanel reduced fast excitatory neuronal activity, which was induced by an α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid receptor, followed by prolonged electrical depolarizations due to an N-methyl-D-aspartate receptor. Furthermore, the ketogenic diet may have modulated the excessive neurotoxic cascade through the N-methyl-D-aspartate receptor. Perampanel and ketogenic diet were effective for seizure control in our patient. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full tex...
Source: Neuropediatrics - March 16, 2020 Category: Neurology Authors: Daida, Atsuro Hamano, Shin-ichiro Ikemoto, Satoru Hirata, Yuko Matsuura, Ryuki Koichihara, Reiko Oba, Daiju Ohashi, Hirofumi Tags: Short Communication Source Type: research

Neonatal Vitamin D Status Is Associated with the Severity of Brain Injury in Neonatal Hypoxic –Ischemic Encephalopathy: A Pilot Study
Conclusion These results support an association between lower vitamin-D levels and early adverse outcomes in HIE, including radiographic severity of brain injury. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - March 16, 2020 Category: Neurology Authors: McGinn, Elizabeth A. Powers, Andria Galas, Madeline Lyden, Elizabeth Peeples, Eric S. Tags: Original Article Source Type: research

Dog-Assisted Therapy in Neurorehabilitation of Children with Severe Neurological Impairment: An Explorative Study
Conclusion DAT is a feasible approach and appears to facilitate emotional, social, and psychological goals in children and adolescents with severe neurological impairment. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - March 16, 2020 Category: Neurology Authors: Hediger, Karin Boek, Friederike Sachers, Julia Blankenburg, Ulrike Antonius-Kluger, Evelyn Rist, Bettina Schaudek, Martina Staudt, Martin Kluger, Gerhard Tags: Original Article Source Type: research

Autopsy Report of a Woman with Infantile Alexander Disease Who Survived 39 Years
We present the autopsy report of a woman with infantile AxD carrying an R239C mutation in the glial fibrillary acidic protein gene, who survived 39 years. She presented with psychomotor retardation in infancy and regressed after age 5. Brain computed tomography scans showed bilateral low frontal white matter density. She became quadriplegic with bulbar palsy and was intellectually handicapped after a measles infection at age 7. Tube feeding was introduced because of dysphagia at age 15. Noninvasive positive pressure ventilation was required due to central hypoventilation in her early thirties. She died of neurogenic respir...
Source: Neuropediatrics - March 6, 2020 Category: Neurology Authors: Tsuji, Megumi Tanaka, Mio Tanaka, Yukichi Ikeda, Azusa Tsuyusaki, Yu Goto, Tomohide Iai, Mizue Tags: Short Communication Source Type: research

Sleep Quality in Children and Adults with Rett Syndrome
Conclusion Our study showed sleep dysfunction to be less prevalent in RTT-affected individuals than evidence from past studies has suggested. Nevertheless, this remains a subjective assessment of sleep quality and therefore the need to find objective, disorder-specific parameters that measure sleep quality in RTT patients persists. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - March 6, 2020 Category: Neurology Authors: Leven, Y. Wiegand, F. Wilken, B. Tags: Original Article Source Type: research

Effects of Modified Constraint-Induced Movement Therapy in Real-World Arm Use in Young Children with Unilateral Cerebral Palsy: A Single-Blind Randomized Trial
Conclusion mCIMT with continuous restraint applied to infants and toddlers with unilateral CP appeared to have a positive effect on paretic hand use in the real world. Clinical Trial Registration Number NCT03418519 [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - March 6, 2020 Category: Neurology Authors: Hwang, Young Sub Kwon, Jeong-Yi Tags: Original Article Source Type: research

Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA
We describe a 13-month-old patient with cutis laxa, autosomal recessive, type IIIA, with an extremely severe phenotype, including novel neurological findings. This description enlarges the neurological spectrum associated to cutis laxa, autosomal recessive, type IIIA, and provides an additional description of this syndrome. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - March 6, 2020 Category: Neurology Authors: Angelini, Chlo é Thibaud, Marie Aladjidi, Nathalie Bessou, Pierre Cabasson, S ébastien Colson, Cindy Espil-Taris, Caroline Goizet, Cyril Husson, Marie Morice-Picard, Fanny De Sandre-Giovannoli, Annachiara P édespan, Jean-Michel Tags: Original Article Source Type: research

The Origin of the Cerebral Palsies: Contribution of Population-Based Neuroimaging Data
Neuropediatrics DOI: 10.1055/s-0039-3402007 Background Surveillance of cerebral palsy in Europe (SCPE) presents the first population-based results on neuroimaging findings in children with cerebral palsy (CP) using a magnetic resonance imaging classification system (MRICS). Method MRIs of children with CP born between 1999 and 2009 from 18 European countries were analyzed. MRICS identifies patterns of brain pathology according to timing during brain development which was analyzed with respect to CP subtypes and gestational age. Results MRIs or written reports from 3,818 children were available. The ...
Source: Neuropediatrics - March 2, 2020 Category: Neurology Authors: Horber, Veronka Sellier, Elodie Horridge, Karen Rackauskaite, Gija Andersen, Guro L. Virella, Daniel Ortibus, Els Dakovic, Ivana Hensey, Owen Radsel, Anja Papavasiliou, Antigone Cruz, Javier De la Arnaud, Catherine Kr ägeloh-Mann, Ingeborg Himmelmann, Ka Tags: Original Article Source Type: research

Severity of Cerebral Palsy —The Impact of Associated Impairments
Conclusion Thirty percent of the children with CP had a low impairment index (they were able to walk unaided and had a normal or near-normal intellect). Severity in CP was strongly associated to subtype, whereas the association was weak with birth weight or gestational age. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - March 2, 2020 Category: Neurology Authors: Horber, Veronka Fares, Asma Platt, Mary Jane Arnaud, Catherine Kr ägeloh-Mann, Ingeborg Sellier, Elodie Tags: Original Article Source Type: research

Access to Intrathecal Baclofen Treatment for Children with Cerebral Palsy in European Countries: An SCPE Survey Reveals Important Differences
Neuropediatrics DOI: 10.1055/s-0040-1701659 Aim The aim is to study access to intrathecal baclofen (ITB) for children with cerebral palsy (CP) in Europe, as an indicator of access to advanced care. Methods Surveys were sent to CP registers, clinical networks, and pump manufacturers. Enquiries were made about ITB treatment in children born in 1990 to 2005 by sex, CP type, level of gross motor function classification system (GMFCS) and age at the start of treatment. Access to ITB was related to the country's gross domestic product (GDP) and % GDP spent on health. Results In 2011 population-based data ...
Source: Neuropediatrics - March 2, 2020 Category: Neurology Authors: Himmelmann, Kate P åhlman, Magnus Andersen, Guro L. Vik, Torstein Virella, Daniel Horridge, Karen Neubauer, David Arnaud, Catherine Rackauskaite, Gija de la Cruz, Javier Tags: Original Article Source Type: research

An Ominous Finding: Cerebellar Reversal Sign
Neuropediatrics DOI: 10.1055/s-0039-3400977 Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - February 28, 2020 Category: Neurology Authors: Sharawat, Indar Kumar Kasinathan, Ananthanarayanan Dawman, Lesa Tags: Images in Neuropediatrics Source Type: research

An Adolescent with Unstable Gait
Neuropediatrics DOI: 10.1055/s-0040-1701667 Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - February 25, 2020 Category: Neurology Authors: Panda, Prateek Kumar Sharawat, Indar Kumar Tags: Images in Neuropediatrics Source Type: research

Changing Landscape of Dravet Syndrome Management: An Overview
Neuropediatrics DOI: 10.1055/s-0040-1701694Dravet syndrome (DS), previously known as severe myoclonic epilepsy of infancy, is a severe developmental and epileptic encephalopathy caused by loss-of-function mutations in one copy of SCN1A (haploinsufficiency), located on chromosome 2q24, with decreased function of Nav1.1 sodium channels in GABAergic inhibitory interneurons. Pharmacoresistant seizures in DS start in the infancy in the form of hemiclonic febrile status epilepticus. Later, other intractable seizure types develop including myoclonic seizures. Early normal development in infancy evolves into moderate to severe int...
Source: Neuropediatrics - February 20, 2020 Category: Neurology Authors: Samanta, Debopam Tags: Review Article Source Type: research

Novel Mutation in ATP6V1A Gene with Infantile Spasms in an Indian Boy
Neuropediatrics DOI: 10.1055/s-0040-1701657A 7-month-old boy with a novel mutation in ATP6V1A gene is described. The ATP6V1A gene has been recently identified to be associated with epileptic encephalopathies. Clinical features in this patient are different from cases reported so far, thus broadening the spectrum of ATP6V1A-associated epileptic encephalopathy. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - February 11, 2020 Category: Neurology Authors: Kadwa, Razia A. Tags: Short Communication Source Type: research

Axenfeld-Rieger Anomaly and Neuropsychiatric Problems —More than Meets the Eye
Conclusion We report on the co-occurrence of ocular anterior segment dysgenesis (Axenfeld-Rieger anomaly) and neuropsychiatric symptoms as clinical signs of genetically determined cerebral small vessel disease in two patients. In both patients, the cerebral lesions involved the frontotemporal regions, brain regions that control social behavior as well as executive and cognitive function, highlighting the fact that neuropsychiatric symptoms may be early clinical presentations of cerebral small vessel disease. We further provide a review of monogenic causes of pediatric cerebral small vessel disease, emphasizing the lin...
Source: Neuropediatrics - February 11, 2020 Category: Neurology Authors: Saffari, Afshin Ziegler, Andreas Merkenschlager, Andreas Kr üger, Stefan K ölker, Stefan Hoffmann, Georg Friedrich Syrbe, Steffen Tags: Original Article Source Type: research

Sixth Cranial Nerve Involvement in Early Onset Krabbe Disease
Neuropediatrics DOI: 10.1055/s-0040-1701661 Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - February 11, 2020 Category: Neurology Authors: Quintas-Neves, Miguel Xavier, Sofia Almeida Soares-Fernandes, Jo ão Paulo Tags: Images in Neuropediatrics Source Type: research

Ketamine Infusion for Super Refractory Status Epilepticus in Alternating Hemiplegia of Childhood
Neuropediatrics DOI: 10.1055/s-0039-3402005Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder and characterized by infantile onset hemiplegia involving either side of the body and other paroxysmal spells, including epilepsy. The N-methyl-D-aspartate (NMDA) receptor noncompetitive antagonist ketamine has been proved to be effective terminating status epilepticus (SE) in animal models and human case studies. Less than 50 cases, those use ketamine, have been reported in the management of pediatric SE, but its effectiveness is unknown in patients with AHC. The author reported two patients with mole...
Source: Neuropediatrics - February 3, 2020 Category: Neurology Authors: Samanta, Debopam Tags: Short Communication Source Type: research

Poland Syndrome with Atypical Malformations Associated to a de novo 1.5 Mb Xp22.31 Duplication
We report a left-sided PS patient carrying a de novo 1.5 Mb Xp22.31 duplication diagnosed in addiction to strabismus, optic nerves and chiasm hypoplasia, corpus callosum abnormalities, ectopic neurohypophysis, pyelic ectasia, and neurodevelopmental delay. Since, to our knowledge, this features' association has not been previously reported, we argue that this case may contribute to further widening of the variability of PS phenotype. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - February 3, 2020 Category: Neurology Authors: Massimino, Carmela R. Smilari, Pierluigi Greco, Filippo Marino, Silvia Vecchio, Davide Bartuli, Andrea Parisi, Pasquale Cho, Sung Y. Pavone, Piero Tags: Short Communication Source Type: research

Older Patients May Have More Frequent Seizures among Children Diagnosed as Benign Convulsions with Mild Gastroenteritis
Neuropediatrics DOI: 10.1055/s-0040-1701442 Purpose Benign convulsions with mild gastroenteritis (CwG) is a condition that does not usually require treatment. However, when the patient experiences multiple seizures or prolonged seizures, anticonvulsant treatment may be required. We investigated this study to identify the factors that may influence on the number or duration of seizures at CwG. Methods We retrospectively analyzed the medical records of CwG patients who were admitted to the Department of Pediatrics at Sanggye Paik Hospital. Results A total of 105 children with CwG were enrolled. The me...
Source: Neuropediatrics - February 3, 2020 Category: Neurology Authors: You, Su Jeong Tags: Original Article Source Type: research

Recurrent Dystonic Crisis and Rhabdomyolysis Treated with Dantrolene in Two Patients with Aromatic L-Amino Acid Decarboxylase Deficiency
Neuropediatrics DOI: 10.1055/s-0039-3402010Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare, autosomal recessive inborn error of metabolism in which several neurotransmitters including serotonin, dopamine, norepinephrine and epinephrine are deficient. Symptoms typically appear in the first year of life and include oculogyric crises and dystonia, hypotonia, and global developmental delay. Dystonia is of particular concern as a dystonic storm can ensue leading to rhabdomyolysis. Rhabdomyolysis can become life-threating and therefore its recognition and prompt management is of significant importance. Here we pr...
Source: Neuropediatrics - January 14, 2020 Category: Neurology Authors: Micallef, J. Stockler-Ipsiroglu, S. van Karnebeek, C.D. Salvarinova-Zivkovic, R. Horvath, G. Tags: Short Communication Source Type: research

Acute Disseminated Encephalomyelitis followed by Optic Neuritis: A Rare Syndrome of Uncertain Treatment and Prognosis
Conclusion MOG-abs detection strongly supports ADEM-ON diagnosis, confirming this entity as part of MOG-abs spectrum disorder. Owing to the very small number of cases so far reported, predicting clinical evolution is very difficult. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - January 14, 2020 Category: Neurology Authors: Serra, Maria Presicci, Anna Fucci, Martina Margari, Mariella Palumbi, Roberto Peschechera, Antonia Margari, Lucia Tags: Review Article Source Type: research

Relationship between Sedative Antihistamines and the Duration of Febrile Seizures
Neuropediatrics DOI: 10.1055/s-0040-1701226Some studies have shown that sedative antihistamines prolong febrile seizure duration. Although the collective evidence is still mixed, the Japanese Society of Child Neurology released guidelines in 2015 that contraindicated the use of sedative antihistamines in patients with febrile seizure. Focused on addressing limitations of previous studies, we conducted a cross-sectional study to evaluate the relationship between febrile seizure duration and the use of sedative antihistamines. Data were collected from patients who visited St. Luke's International Hospital due to febrile seiz...
Source: Neuropediatrics - January 14, 2020 Category: Neurology Authors: Daida, Atsuro Yamanaka, Gaku Tsujimoto, Shin-ichi Yokoyama, Mina Hayashi, Kuniyoshi Urayama, Kevin Y. Ishida, Yasushi Manabe, Atsushi Kusakawa, Isao Ogihara, Masaaki Kawashima, Hisashi Tags: Original Article Source Type: research

European and Australian Cerebral Palsy Surveillance Networks Working Together for Collaborative Research
Conclusion Two CP networks representing two continents have compared their major characteristics to facilitate the comparison across their study populations. These characteristics proved to be similar with only marginal differences. This gives additional strength to the observation in both networks that CP prevalence is decreasing which is of great importance for families and health care systems. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - January 7, 2020 Category: Neurology Authors: Sellier, Elodie McIntyre, Sarah Smithers-Sheedy, Hayley Platt, Mary Jane Tags: Review Article Source Type: research

Neonatal Herpes Simplex Virus-1 Recurrence with Central Nervous System Disease in Twins after Completion of a Six-Month Course of Suppressive Therapy: Case Report
Neuropediatrics DOI: 10.1055/s-0039-3402011Seventeen-day-old twins were hospitalized for neonatal herpes simplex virus 1 (HSV-1) with central nervous system disease and internal capsule and thalamic lesions on magnetic resonance imaging (MRI). They were treated with the usual intravenous (IV) treatment and oral therapy for 6 months. The clinical course was good in both children with negative HSV polymerase chain reaction on completion of IV therapy. The neurological condition recurred in one child with new radiological lesions at 7 months of age, 2 weeks after discontinuation of oral treatment. Cerebral lesions highlighted...
Source: Neuropediatrics - December 30, 2019 Category: Neurology Authors: Grondin, Anthony Baudou, Elo ïse Pasquet, Marl ène Pelluau, Sonia Jamal-Bey, Karim Bermot, C écile Villega, Frederic Cheuret, Emmanuel Tags: Short Communication Source Type: research

Overlapping Phenotype from Double Trouble SMARCA2 and POLG1 Variants c.2556A   >  C and c.3708G  >  T, Respectively
Neuropediatrics DOI: 10.1055/s-0039-3402008 Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - December 30, 2019 Category: Neurology Authors: Finsterer, Josef Tags: Letter to the Editor Source Type: research

Mobility Characteristics of Children with Spastic Paraplegia Due to a Mutation in the KIF1A Gene
We describe four patients (ages 10–18 years), focusing on their mobility and gait characteristics. Two patients were not able to walk without assistance and showed a severe abnormal gait pattern, crouch gait. At examination, severe contractures were found.In addition to describing the different phenotypes with specific attention to gait in our cases, we reviewed known KIF1A mutations and summarized their associated phenotypes.We conclude that mobility and cognition are severely affected in children with spastic paraplegia due to de novo KIF1A mutations. Deterioration in mobility is most likely due to progressive spas...
Source: Neuropediatrics - December 5, 2019 Category: Neurology Authors: Van Beusichem, A.E Nicolai, J Verhoeven, J Speth, L Coenen, M Willemsen, M.A Kamsteeg, E.J Stumpel, C Vermeulen, R.J Tags: Original Article Source Type: research

Transtemporal Ultrasound (US) Assessment of Third Ventricle Diameter (TVD): Comparison of US and MRI TVD in Pediatric Patients
Neuropediatrics DOI: 10.1055/s-0039-3400978 Introduction In a retrospective magnetic resonance imaging (MRI)-based study, we showed that changes of the third ventricle diameter (TVD) are a reliable mirror of changes of the entire ventricular system. The third ventricle is easily accessible in more than 90% of children and adults using ultrasound (US) via the transtemporal bone-window; thus it can be assessed quickly and free of radiation. In order to use transtemporal US determination of TVD instead of MRI/CT in clinical practice, it is important to know if there is a correlation and bias between both methods, whic...
Source: Neuropediatrics - December 2, 2019 Category: Neurology Authors: Kerscher, Susanne R. Schweizer, Louise L. N ägele, Thomas Bevot, Andrea Alber, Michael Schuhmann, Martin U. Tags: Original Article Source Type: research

A Case of Severe Early-Onset Neuropathy Caused by a Compound Heterozygous Deletion of the PMP22 Gene: Clinical and Neurographic Aspects
We report a patient with a severe early-onset demyelinating neuropathy, caused by two different inherited deletions of PMP22, whose parents had an HNPP. The patient showed neurological signs and delay in motor development but normal intellective abilities. A motor and sensitive conduction study showed severe signs of demyelination, suggestive for Dejerine Sottas Syndrome (DSS). The patient's father had a typical HNPP caused by a heterozygous 17p11.2 deletion, encompassing PMP22. The patient's mother reported no neuropathic symptoms, but in a nerve conduction studies, parents and several relatives showed signs of sensory&nd...
Source: Neuropediatrics - November 29, 2019 Category: Neurology Authors: D'Arrigo, Stefano Tessarollo, Valeria Taroni, Franco Baratta, Silvia Pantaleoni, Chiara Schiaffi, Elena Ciano, Claudia Tags: Original Article Source Type: research

Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy
Conclusion Mutations in MTPAP likely cause an autosomal recessive perinatal encephalopathy with lethality in the first year of life. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - November 28, 2019 Category: Neurology Authors: Van Eyck, Lien Bruni, Francesco Ronan, Anne Briggs, Tracy A. Roscioli, Tony Rice, Gillian I. Vassallo, Grace Rodero, Mathieu P. He, Langping Taylor, Robert W. Livingston, John H. Chrzanowska-Lightowlers, Zofia M. A. Crow, Yanick J. Tags: Original Article Source Type: research

Cerebral Insufficiency Caused by Diazoxide in a Premature Neonate with Congenital Hyperinsulinism
Neuropediatrics DOI: 10.1055/s-0039-3400975Diazoxide is a peripheral vasodilator that has been used for intravenous treatment of hypertensive emergencies. However, it is currently used mainly for hyperinsulinemic hypoglycemia in lower dose orally, and its major side effects are edema and pulmonary hypertension. Herein, we report the first association between periventricular leukomalacia (PVL) and intractable hypotension due to diazoxide. A Japanese female premature infant showed hypoglycemia concomitant with hyperinsulinemia. She was diagnosed with congenital hyperinsulinism, and oral diazoxide was started. Six days after ...
Source: Neuropediatrics - November 27, 2019 Category: Neurology Authors: Okada, Seigo Fukunaga, Shinnosuke Ohta, Haruka Furuta, Takashi Hirano, Reiji Motonaga, Takahiro Ishikawa, Yuichi Tags: Short Communication Source Type: research

Tone Reduction and Physical Therapy: Strengthening Partners in Treatment of Children with Spastic Cerebral Palsy
Neuropediatrics DOI: 10.1055/s-0039-3400987The aim of this paper is to provide a clinically applicable overview of different tone reducing modalities and how these can interact with or augment concurrent physical therapy (PT). Botulinum toxin (BoNT), oral tone-regulating medication, intrathecal baclofen (ITB), and selective dorsal rhizotomy are discussed within a physiotherapeutic context and in view of current scientific evidence. We propose clinical reasoning strategies to identify treatment goals as well as the appropriate and corresponding treatment interventions. Instrumented measurement of spasticity, standardized cl...
Source: Neuropediatrics - November 27, 2019 Category: Neurology Authors: Franki, Inge Bar-On, Lynn Molenaers, Guy Van Campenhout, Anja Craenen, Karen Desloovere, Kaat Feys, Hilde Pauwels, Petra De Cat, Jos Ortibus, Els Tags: Review Article Source Type: research

Expanding Phenotypic Spectrum of Cerebral Aspartate –Glutamate Carrier Isoform 1 (AGC1) Deficiency
Conclusion Cerebral AGC1 deficiency results in dysfunction of mitochondrial malate aspartate shuttle, thereby prohibiting myelin synthesis. There are significant phenotypic commonalities between our patient and previously reported cases including intractable epilepsy, psychomotor delay, cerebral atrophy, and diminished NAA peak. Our report also provides evidence regarding beneficial effect of ketogenic diet in this rare neurometabolic epilepsy. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - November 25, 2019 Category: Neurology Authors: Pfeiffer, Brian Sen, Kuntal Kaur, Shagun Pappas, Kara Tags: Short Communication Source Type: research

Early Treatment in Acute Severe Encephalopathy Caused by ATP1A2 Mutation of Familial Hemiplegic Migraine Type 2: Case Report and Literature Review
Neuropediatrics DOI: 10.1055/s-0039-3400986Familial hemiplegic migraine type 2 (FHM2) is an autosomal dominant inheritance disorder caused by ATP1A2 mutation, and the clinical spectrum is heterogeneous even with acute severe encephalopathy. However, up to now, early treatments against acute and severe attacks in FHM2 are still insufficient. Here, we report a 15-year-old female with intellectual disability due to FHM2 caused by a pathogenic ATP1A2 gene mutation, presenting mild-to-moderate headache at the onset, followed by confusion, complete right hemiparalysis, epileptic partial seizures, and conscious disturbance with r...
Source: Neuropediatrics - November 25, 2019 Category: Neurology Authors: Du, Ying Li, Chuan Duan, Feng-ju Zhao, Chao Zhang, Wei Tags: Short Communication Source Type: research

Early Onset, Long Illness Duration, Epilepsy Type, and Polypharmacy Have an Adverse Effect on Psychosocial Outcome in Children with Epilepsy
Neuropediatrics DOI: 10.1055/s-0039-3399529Epilepsy is often associated with psychosocial comorbidity and this can be more disabling than the seizure activity. Still, these associated conditions are often underdiagnosed and therefore not sufficiently treated. We studied a large pediatric cohort of 371 patients with epilepsy to identify factors associated with negative outcome. We found that patients with early-onset epilepsy, epilepsy of known etiology, and polypharmacy were the most likely to display cognitive impairment. Behavioral problems were particularly prevalent in patients with an epilepsy duration ≥&thi...
Source: Neuropediatrics - November 21, 2019 Category: Neurology Authors: Valova, Valeria Kochan, Aleksandra Werry, Bianca John, Rainer Prager, Christine Schneider, Joanna Kaindl, Angela M. Tags: Short Communication Source Type: research

Recurrent Demyelinating Episodes as Sole Manifestation of Inherited CD59 Deficiency
We present a patient who had four episodes of demyelination in the central nervous system as the only manifestation of inherited CD59 deficiency. Relapsing encephalopathy partially responsive to intravenous immunoglobulin and steroid treatments on the background of parental consanguinity suggested an inherited immune dysregulation. Next generation sequencing revealed homozygous mutation in the CD59 gene, confirmed by lack of CD59 expression on flow cytometry. Inherited CD59 deficiency is a rare autosomal recessive condition characterized by chronic hemolysis, recurrent strokes, and relapsing peripheral demyelinating neurop...
Source: Neuropediatrics - November 21, 2019 Category: Neurology Authors: Solmaz, Ismail Aytekin, Elif Soyak Çağdaş, Deniz Tan, Cagman Tezcan, Ilhan Gocmen, Rahsan Haliloglu, Goknur Anlar, Banu Tags: Short Communication Source Type: research

Neuroenteric Cyst: A Rare Lesion of the Spinal Cord
Neuropediatrics DOI: 10.1055/s-0039-3399530 Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - November 21, 2019 Category: Neurology Authors: Rodrigues, Marta Os ório, Joana Pontinha, Carlos Correia, Miguel Concei ção, Carla Tags: Images in Neuropediatrics Source Type: research