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Saša Ilovar, Mirjana Perković Benedik, Tina Vipotnik Vesnaver, Damjan Osredkar
BACKGROUND:  Brain aneurysms are rare in the pediatric population. The diagnosis of a brain aneurysm in a child may be difficult because of its infrequency and often subtle or nonspecific clinical presentation. Endovascular therapy and microsurgical treatment are increasingly used approaches in treating children, possibly contributing to favorable outcomes if patients are treated in a timely manner. OBJECTIVE:  We were interested in the clinical presentation, symptoms, diagnostics, treatment, and follow-up of pediatric patients with brain aneurysms in Slovenia...
January 10, 2019: Neuropediatrics
Maoqiang Tian, Juan Li, Wenting Lei, Xiaomei Shu
Anti-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...
January 8, 2019: Neuropediatrics
Maoqiang Tian, Juan Li, Wenting Lei, Xiaomei Shu
No abstract text is available yet for this article.
January 8, 2019: Neuropediatrics
Pippa Staps, Imelda J M de Groot, Marjo H J C van Gerven, Michèl A A P Willemsen
AIM:  Sjögren-Larsson syndrome (SLS) is an autosomal recessively inherited neurometabolic disease caused by an enzyme defect in lipid metabolism. Patients suffer from intellectual disability, bilateral spastic paresis, ichthyosis, visual impairment, and photophobia. Knowledge about the meaning of having SLS in daily life is lacking. METHODS:  Sixteen parents or caregivers of patients with SLS were asked to fill out online questionnaires about daily functioning, quality of life, feeding and swallowing problems, skin treatment, female hormonal status, and greatest problems...
January 4, 2019: Neuropediatrics
Thouraya Ben Younes, Hanene Benrhouma, Hedia Klaa, Rania Ben Aoun, Aida Rouissi, Melika Ben Ahmed, Ichraf Kraoua, Ilhem Ben Youssef-Turki
Myasthenia gravis (MG) with antibodies to the muscle-specific tyrosine kinase (MuSK-MG) receptor is a rare entity. It represents 5 to 8% of all MG patients. Few pediatric cases were reported. Clinical presentation is often atypical. It is characterized by predominant involvement of cranial, bulbar, and axial muscles and early respiratory crises. Myokymia and fasciculation are suggestive of MuSK-MG. The clinical course of patients with MuSK-MG is worse than other types of MG. Responses to standard therapies are variable...
December 21, 2018: Neuropediatrics
Conrad Krawiec, Gary D Ceneviva, Neal J Thomas
BACKGROUND/OBJECTIVE:  Pediatric brain death determination (BDD) can be subject to interprovider variability of documentation, resulting in diagnosis credibility. The aim of this study was to describe our approach to assessing pediatric BDD documentation and documentation variation in the electronic health record (EHR). METHODS:  This was a single institution cross-sectional review of pediatric patients younger than 18 years determined to meet brain death criteria...
December 20, 2018: Neuropediatrics
Gerhard Josef Kluger, Andreas Kirsch, Melanie Hessenauer, Holger Aust, Steffen Berweck, Wolfgang Sperl, Cornelia Betzler, Celina von Stülpnagel-Steinbeis, Martin Staudt
Among 131 children admitted to our institution for early phase rehabilitation after freshwater near-drowning (ND) between the year 1986 and 2000, 87 were in unresponsive wakefulness syndrome (UWS) for at least 4 weeks after the accidents. An anonymous questionnaire was sent to the families after 0.5 to 15.0 years (median: 4.6) and 48 mothers and 51 fathers of 55 of these 87 children were interviewed after 6.6 to 23.8 years (median: 13.8) of ND. At the time of the interviews, 8/55 children were able to perform daily living activities independently, 36/55 children were not able to do so (many of them suffered from chronic medical conditions like spasticity or disorders of swallowing), and 11/55 children had died...
December 20, 2018: Neuropediatrics
Konstantina Kosma, Anastasios Mitrakos, Christalena Sofokleous, George Papadimas, Helena Fryssira, Sofia Kitsiou-Tzeli, Maria Tzetis
X-linked myotubular myopathy (XLMTM) is a rare inherited neuromuscular disorder associated with mutations in the MTM1 gene on the Xq28 region. 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...
December 12, 2018: Neuropediatrics
Lucie Sedláčková, Petra Laššuthová, Katalin Štěrbová, Jana Haberlová, Emílie Vyhnálková, Jana Neupauerová, David Staněk, Marie Šedivá, Pavel Kršek, Pavel Seeman
INTRODUCTION:  Neurodegenerative diseases of childhood present with progressive decline in cognitive, social, and motor function and are frequently associated with seizures in different stages of the disease. Here we report a patient with severe progressive neurodegeneration with drug-resistant epilepsy of unknown etiology from the age of 2 years. METHODS AND RESULTS:  Using whole exome sequencing, we found heterozygous missense de novo variant c.628G > A (p...
December 5, 2018: Neuropediatrics
Joost Smolders, Bart C Jacobs, Anne P Tio-Gillen, Frouke Nijhuis, Aad Verrips
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...
November 26, 2018: Neuropediatrics
Alhanouf Alhusani, Abdulrahman Obaid, Henk J Blom, Anna Wedell, Majid Alfadhel
Adenosine kinase (ADK) deficiency (OMIM [online mendelian inheritance in man]: 614300) is an autosomal recessive disorder of adenosine and methionine metabolism, with a unique clinical phenotype, mainly involving the central nervous system and dysmorphic features. Patients usually present early in life with sepsis-like symptoms, respiratory difficulties, and neonatal jaundice. Subsequently, patients demonstrate hypotonia and global developmental delay. Biochemically, methionine is elevated with normal homocysteine levels and the diagnosis is confirmed through molecular analysis of the ADK gene...
November 26, 2018: Neuropediatrics
E Baudou, J Benevent, J L Montastruc, G Touati, C Hachon LeCamus
INTRODUCTION:  Valproic acid (VPA) is rarely used in neonatal period. In children under 2 years old, serious adverse effects are appear to be more frequent. AIM:  The aim of our study is to report the adverse effects observed in a population of full-term newborns treated with VPA. METHOD:  Full-term newborns, hospitalized at the Toulouse CHU, who presented with neonatal seizures and who received long-term treatment with VPA between 2004 and 2014 were included...
November 19, 2018: Neuropediatrics
Didem Ardıçlı, Goknur Haliloğlu, Mehmet Alikaşifoğlu, Haluk Topaloğlu
Up to 15% of Duchenne's muscular dystrophy (DMD) is caused by nonsense mutations (nm-DMD). In this study, we aimed to evaluate the age at diagnosis, presentations, and diagnostic approach in 43 nm-DMD boys. The mean age at presentation and diagnosis was 3 years and 4 years, respectively. Presenting signs or symptoms were asymptomatic creatine kinase (CK) elevation (40%), muscle weakness (30%), motor delay (18%), and walking difficulties (12%). Multiplex polymerase chain reaction (PCR) of the most commonly deleted exons were negative ( n  = 17), and muscle biopsy was consistent with dystrophinopathy ( n  = 24)...
November 19, 2018: Neuropediatrics
Sumeet R Dhawan, Renu Suthar, Hansashree Padmanabha, Paramjeet Singh, Devi Dayal, Naveen Sankhyan
No abstract text is available yet for this article.
November 19, 2018: Neuropediatrics
Sumeet R Dhawan, Lokesh Saini, Savita Verma Attri, Ajay Kumar, Naveen Sankhyan
No abstract text is available yet for this article.
November 19, 2018: Neuropediatrics
Sumeet R Dhawan, Shivan Kesavan, Lokesh Saini, Paramjeet Singh, Jitendra K Sahu, Naveen Sankhyan
No abstract text is available yet for this article.
November 19, 2018: Neuropediatrics
Özlem Ünal, Serdar Ceylaner, Rıdvan Akın
Mutations in the human GLUL gene, which encodes the enzyme glutamine synthetase (GS), may cause congenital glutamine synthetase deficiency. The disease was first described in 2005 and only three patients have been reported to date. We report a fourth patient suffering from congenital GS deficiency who was found to have some distinctive clinical findings. The patient was a 30-month-old girl who was referred to us due to developmental delay and seizures which began at 5 months of age. She was seizure free for 5 months with valproic acid and vigabatrin...
November 15, 2018: Neuropediatrics
Sumeet R Dhawan, Jyotindra N Goswami, Renu Suthar, Devi Dayal, Sameer Vyas, Pratibha D Singhi
No abstract text is available yet for this article.
November 12, 2018: Neuropediatrics
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
Michèl A Willemsen
No abstract text is available yet for this article.
October 29, 2018: Neuropediatrics
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