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Neuropediatrics

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https://www.readbyqxmd.com/read/30372766/inherited-disorders-of-neurotransmitters-classification-and-practical-approaches-for-diagnosis-and-treatment
#1
Heiko Brennenstuhl, Sabine Jung-Klawitter, Birgit Assmann, Thomas Opladen
Neurotransmitter deficiencies are rare neurological disorders with clinical onset during childhood. The disorders are caused by genetic defects in the enzymes involved in synthesis, degradation, or transport of neurotransmitters or by defects in the cofactor biosynthesis such as tetrahydrobiopterin (BH4 ). With the newly described DNAJC12 deficiency, a chaperon-associated neurotransmitter disorder, the pathophysiological spectrum has been broadened. All deficiencies result in a lack of monoamine neurotransmitters, especially dopamine and its products, with a subset leading to decreased levels of serotonin...
October 29, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30372765/failing-transmission
#2
Michèl A Willemsen
No abstract text is available yet for this article.
October 29, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30336494/lafora-disease-a-review-of-molecular-mechanisms-and-pathology
#3
Brandy Verhalen, Susan Arnold, Berge A Minassian
Lafora's disease is a neurodegenerative disorder caused by recessive loss-of-function mutations in the EPM2A (laforin glycogen phosphatase) or EPM2B (malin E3 ubiquitin ligase) genes. Neuropathology is characterized by malformed precipitated glycogen aggregates termed Lafora bodies. Asymptomatic until adolescence, patients undergo first insidious then rapid progressive myoclonus epilepsy toward a vegetative state and death within a decade. Laforin and malin interact to regulate glycogen phosphorylation and chain length pattern, the latter critical to glycogen's solubility...
October 18, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30308687/neuromuscular-involvement-in-glycogen-storage-disease-type-iii-in-fifty-tunisian-patients-phenotype-and-natural-history-in-young-patients
#4
Amel Ben Chehida, Sana Ben Messaoud, Rim Ben Abdelaziz, Nadia Ben Ali, Hela Boudabous, Ines Ben Abdelaziz, Zeineb Ben Ameur, Yosra Sassi, Neziha Kaabachi, Sonia Abdelhak, Mohamed Slim Abdelmoula, Mohamed Fradj, Hatem Azzouz, Neji Tebib
BACKGROUND:  Our aim was to describe the natural history of neuromuscular involvement (NMI) in glycogen storage disease type III (GSDIII). METHODS:  We conducted a longitudinal study of 50 Tunisian patients, 9.87 years old in average. RESULTS:  NMI was diagnosed at an average age of 2.66 years and was clinically overt in 85% of patients. Patients with clinical features were older ( p  = 0.001). Complaints were dominated by exercise intolerance (80%), noticed at 5...
October 11, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30308686/hyperdense-middle-cerebral-artery-in-a-boy-with-road-traffic-accident
#5
Sumeet R Dhawan, Abhinandan Sood, Renu Suthar, Sameer Vyas, Naveen Sankhyan
No abstract text is available yet for this article.
October 11, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30304743/clinical-assessment-of-dysarthria-in-children-with-cerebellar-syndrome-associated-with-pmm2-cdg
#6
Débora Itzep, Antonio F Martínez-Monseny, Mercè Bolasell, Daniel Cuadras, Ramón Velázquez-Fragua, Luis G Gutierrez-Solana, Alfons Macaya, Belén Pérez-Dueñas, Mercedes Serrano
Phosphomannomutase deficiency (PMM2-CDG) causes a cerebellar syndrome that has been evaluated using the International Cooperative Ataxia Rating Scale (ICARS). However, no particular dysarthria tests have been used. Speech ICARS subscore subjectively assesses fluency and clarity of speech with two items. Repetition of syllables, traditionally used for characterization of ataxic speech, was validated in early-onset ataxia conditions. We assess the validity of the PATA test (SCA Functional Index [SCAFI]) in PMM2-CDG patients...
October 10, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30304742/vestibular-migraine-with-visual-aura-and-olfactory-hallucination-in-children-two-case-reports
#7
L M Agessi, T R Villa
BACKGROUND:  Approximately 3.9% children with migraine have olfactory hallucination which was defined as a perception of a smell without the substantial existence of any physical odor. CASE:  We described the first two cases of children with vestibular migraine, presenting visual aura and olfactory hallucination. ​ We reported two children with vertigo, visual aura, and olfactory hallucination before the headache who were responsive to topiramate. CONCLUSION:  The clinical description of olfactory hallucination presented some characteristics of migraine aura...
October 10, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30304741/juvenile-canavan-disease-a-leukodystrophy-without-white-matter-changes
#8
Prashant Jauhari, Lokesh Saini, Biswaroop Chakrabarty, Atin Kumar, Sheffali Gulati
No abstract text is available yet for this article.
October 10, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30235488/early-retinal-findings-following-cooling-in-neonatal-encephalopathy
#9
Mustafa Ali Akin, Ozlem Sahin, Murat Cansever, Ender Sirakaya, Nicola Jayne Robertson
BACKGROUND AND AIM:  Perinatal HI (hypoxia-ischemia)-related visual defects including blindness are known to be associated with ischemic lesions in intracerebral visual pathways and ischemic retinal damage (IRD). Intraocular hemorrhages (IOH) such as retinal hemorrhage (RH), which may result from perinatal HI, can cause IRD by various mechanisms. We aimed to evaluate the early retinal findings in neonates with moderate-to-severe neonatal encephalopathy (NE) who underwent TH and its relationship between coagulation status, amplitude-integrated electroencephalography (aEEG) patterns, and magnetic resonance imaging-magnetic resonance spectroscopy (MRI-MRS) findings...
September 20, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30223286/monitoring-criteria-of-intracranial-lesions-in-children-post-mild-or-moderate-head-trauma
#10
Coralie Jacquet, Sergio Boetto, Annick Sevely, Jean-Christophe Sol, Yves Chaix, Emmanuel Cheuret
Head injury is the most common cause of child traumatology. However, there exist no treatment guidelines in children having intracranial lesions due to minor or moderate head trauma. There is little knowledge about monitoring, clinical exacerbation risk factors, or optimal duration of hospitalization. The aim of this retrospective study is to find predictive factors in the clinical course of non-severe head trauma in children, and thus to determine an optimal management strategy. Poor clinical progress was observed in only 4 out of 113 children...
September 17, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30223285/rnaseh2b-pathogenic-gene-variant-in-uncomplicated-hereditary-spastic-paraplegia-report-of-a-new-patient
#11
Carlotta Spagnoli, Daniele Frattini, Grazia Gabriella Salerno, Carlo Fusco
No abstract text is available yet for this article.
September 17, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30199896/a-de-novo-missense-variant-in-pou3f2-identified-in-a-child-with-global-developmental-delay
#12
Dominik Sebastian Westphal, Korbinian Maria Riedhammer, Reka Kovacs-Nagy, Thomas Meitinger, Julia Hoefele, Matias Wagner
Many genetic and nongenetic causes for developmental delay in childhood could be identified. Often, however, the molecular basis cannot be elucidated. As next-generation sequencing is becoming more frequently available in a diagnostic context, an increasing number of genetic variations are found as causative in children with developmental delay.We performed trio exome sequencing in a girl with developmental delay and minor dysmorphological features. Using a filter for de novo variants, the heterozygous missense variant c...
September 10, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30199895/isolated-congenital-absence-of-cranial-nerves-report-of-two-cases
#13
Vivek Agarwal, Sameer Vyas, Sumeet R Dhawan, Naveen Sankhyan
Isolated cranial nerve absence is a rare condition that can be diagnosed using high-resolution cranial nerve magnetic resonance (MR) imaging. Thorough clinical examination with proper knowledge of the course of cranial nerves may help diagnose this rare condition. We describe two cases, one each of, isolated congenital absence of the third and seventh cranial nerve with their clinical presentation. High-resolution T2-weighted MR imaging was done in both patients which revealed absence of cisternal segment of the right-sided third nerve and cisternal with canalicular segment of the right-sided facial nerve...
September 10, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30165711/dominant-scn2a-mutation-causes-familial-episodic-ataxia-and-impairment-of-speech-development
#14
Walid Fazeli, Kerstin Becker, Peter Herkenrath, Christoph Düchting, Friederike Körber, Pablo Landgraf, Peter Nürnberg, Janine Altmüller, Holger Thiele, Anne Koy, Max C Liebau, Thorsten Simon, Jörg Dötsch, Sebahattin Cirak
Mutations in SCN2A are associated with a heterogeneous clinical spectrum including epilepsy and autism. Here, we have identified a peculiar phenotype associated with vaccination related exacerbations of ataxia. We report the first family with three individuals affected by SCN2A -associated episodic ataxia (EA) with impaired speech development. The index patient manifested his first episode of subacute cerebellar ataxia at the age of 12 months, 3 weeks after vaccinations for measles, mumps, rubella, and varicella...
December 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30165710/neurotrauma-and-critical-care-of-the-brain
#15
Rob Forsyth
No abstract text is available yet for this article.
December 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30114719/htra2-defect-a-recognizable-inborn-error-of-metabolism-with-3-methylglutaconic-aciduria-as-discriminating-feature-characterized-by-neonatal-movement-disorder-and-epilepsy-report-of-11-patients
#16
Reka Kovacs-Nagy, Gilles Morin, Maria Al Nouri, Oliver Brandau, Nebal Waill Saadi, Mohammed A Nouri, Florence van den Broek, Holger Prokisch, Johannes A Mayr, Saskia B Wortmann
Neonatal-onset movement disorders, especially in combination with seizures, are rare and often related to mitochondrial disorders. 3-methylglutaconic aciduria (3-MGA-uria) is a marker for mitochondrial dysfunction. In particular, consistently elevated urinary excretion of 3-methylglutaconic acid is the hallmark of a small but growing group of inborn errors of metabolism (IEM) due to defective phospholipid remodeling or mitochondrial membrane-associated disorders (mutations in TAZ , SERAC1 , OPA3 , CLPB , DNAJC19 , TMEM70 , TIMM50 )...
December 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30384386/abstracts-of-the-44th-annual-meeting-of-the-society-for-neuropediatrics
#17
Volker Mall
No abstract text is available yet for this article.
October 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30086556/response-to-letter-to-the-editor
#18
Alfons Macaya, Susana Boronat
No abstract text is available yet for this article.
October 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30086555/pediatric-kl%C3%A3-ver-bucy-syndrome-report-of-two-cases-and-review-of-the-literature
#19
Gerhard Kluger, Ellen Romein, Melanie Hessenauer, Milka Pringsheim, Steffen Berweck
No abstract text is available yet for this article.
October 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30011403/early-life-epilepsy-and-episodic-apnea-revealing-an-atp1a3-mutation-report-of-a-pediatric-case-and-literature-review
#20
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...
October 2018: Neuropediatrics
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