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Neuropediatrics

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https://www.readbyqxmd.com/read/28052304/is-tadpole-pupil-in-an-adolescent-girl-caused-by-denervation-hypersensitivity
#1
Jonas Kjeldbjerg Hansen, Hans Ulrik Møller
Tadpole pupil is a rarely encountered phenomenon caused by episodic, segmental iris dilator muscle spasm of short duration (2-15 minutes), occurring in clusters without a known precipitating factor. It has most commonly been described in women aged 28 to 48 years. A few hypotheses on pathogenesis have been discussed but none has been proved. Here, we present an adolescent girl with bilateral tadpole pupil that appeared during physical exercise. This is the first pediatric case of tadpole pupil, not caused by preceding surgery, to be published...
January 4, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28033622/reversible-hypertensive-myelopathy-the-spinal-cord-variant-of-posterior-reversible-encephalopathy-syndrome
#2
Rahsan Gocmen, Didem Ardicli, Yasin Erarslan, Ali Duzova, Banu Anlar
The posterior reversible encephalopathy syndrome (PRES) is a well-known clinical and radiologic entity mainly affecting the territory of the posterior cerebral circulation. Spinal cord involvement is extremely rare, and as of yet, only a few cases have been reported in the literature. The present case describes a reversible, longitudinal spinal cord lesion in a patient with high blood pressure. We discuss the differential diagnosis of longitudinal myelopathy and focus on the clinical presentation, diagnosis, and management of the "spinal cord variant of PRES...
December 29, 2016: Neuropediatrics
https://www.readbyqxmd.com/read/28030870/diffusion-weighted-imaging-of-periventricular-leukomalacia-in-very-young-children-assessment-of-peritrigonal-stripe-of-restricted-diffusion
#3
Ping-Sheng Lu, Cheng-Hong Toh, Chih-Hua Yeh, Huei-Shyong Wang, Kuang-Lin Lin, Alex Mun-Ching Wong
Purpose In periventricular leukomalacia (PVL), apparent diffusion coefficient (ADC) reduction, normally shown as dark stripe in the peritrigonal (PT) white matter, may be incomplete. We assessed the PT dark stripe to differentiate between PVL patients and control subjects. Patients and Methods We reviewed the magnetic resonance studies of 27 neonates and young children with PVL and 67 control subjects to assess the PT dark stripe on ADC maps. In PVL patients, the assessment was referred to the location of PVL lesion on fluid-attenuated inversion recovery (FLAIR) imaging...
December 28, 2016: Neuropediatrics
https://www.readbyqxmd.com/read/28027569/treatment-of-super-refractory-status-epilepticus-in-fires
#4
Bernd A Neubauer
No abstract text is available yet for this article.
December 27, 2016: Neuropediatrics
https://www.readbyqxmd.com/read/28024310/horizontal-gaze-palsy-in-two-brothers-with-compound-heterozygous-robo3-gene-mutations
#5
Annette Hackenberg, Eugen Boltshauser, Christina Gerth-Kahlert, Nikolai Stahr, Silvia Azzarello-Burri, Barbara Plecko
No abstract text is available yet for this article.
December 26, 2016: Neuropediatrics
https://www.readbyqxmd.com/read/28024309/stroke-as-initial-manifestation-of-adenosine-deaminase-2-deficiency
#6
Miriam Elbracht, Michael Mull, Norbert Wagner, Christiane Kuhl, Angela Abicht, Ingo Kurth, Klaus Tenbrock, Martin Häusler
Deficiency of adenosine deaminase 2 (ADA2) due to homozygous or compound heterozygous mutations in the cat eye syndrome chromosome region, candidate 1 (CECR1) gene causes an autoimmune phenotype with systemic vasculitis affecting the skin, inner organs, and the central nervous system. Typically, stroke has been reported to follow systemic inflammatory disease and predominantly affects posterior and central brain areas. Here, we describe one of the rare patients in whom acute mesencephalic stroke preceded systemic inflammation and presented as initial clinical symptom...
December 26, 2016: Neuropediatrics
https://www.readbyqxmd.com/read/28024308/middle-cerebellar-peduncles-t2-hyperintense-signal-in-fazio-londe-syndrome
#7
Igor de Assis Franco, Marcelo de Melo Aragão, Andrea Poretti, Mayara C Vogel da Silva, Walter J da Graça Diogo, Marcelo Rodrigues Masruha
No abstract text is available yet for this article.
December 26, 2016: Neuropediatrics
https://www.readbyqxmd.com/read/28024307/ethics-in-child-health-principles-and-cases-in-neurodisability
#8
Oswald Hasselmann
No abstract text is available yet for this article.
December 26, 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27992942/cardiac-abnormalities-in-congenital-and-childhood-myotonic-muscular-dystrophy-type-1
#9
Anjali Sharma, Sandeep Singh, Shri K Mishra
Myotonic dystrophy often presents with cardiac abnormalities, particularly conduction defects, that factor into an increased risk of sudden cardiac death. Myotonic dystrophy has two forms, myotonic dystrophy type 1 (DM1) and DM2, and is a multisystemic disorder that presents in a wide, clinical spectrum and age range. A distinguishing feature of DM1 is the existence of a congenital form. Though research on cardiac involvement has been conducted on patients with the adult form of myotonic dystrophy, there have been few studies focused on cardiac involvement in pediatric patients with congenital myotonic dystrophy type 1 (CDM1)...
December 19, 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27919116/stylohyoid-complex-eagle-syndrome-starting-in-a-9-year-old-boy
#10
Maite Gárriz-Luis, Pablo Irimia, Juan M Alcalde, Pablo Domínguez, Juan Narbona
Background There are only four previous pediatric reports of the glossopharyngeal neuralgic form of the stylohyoid complex syndrome. Stylohyoid complex has merely been described as cases of glossopharyngeal neuralgia in children. Case Report A 12-year-old boy came to our hospital because of recurrent episodes of severe cranial pain (9/10) lasting for 5 to 15 minutes. Pain affected the right tonsillar fossa, ear, and mastoid region. Since the start at the age of 9 years, the frequency of painful episodes has progressively increased: when admitted to our clinics 3 years later, the child was having up to five episodes daily in spite of analgesic, antiepileptic, and antidepressant drugs; he had abandoned school and leisure...
December 5, 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27919115/febrile-infection-related-epilepsy-syndrome-clinical-review-and-hypotheses-of-epileptogenesis
#11
Andreas van Baalen, Annamaria Vezzani, Martin Häusler, Gerhard Kluger
Febrile infection-related epilepsy syndrome (FIRES, AERRPS, or DESC) is one of the most severe, mostly irreversible, and presumably immune-mediated epileptic encephalopathies affecting healthy children. Refractory status epilepticus or a cluster of seizures start a few days after the onset of an acute febrile illness; however, encephalitis cannot be proved. Sequelae of FIRES are drug-resistant epilepsy and neuropsychological impairments occurring without latency. Clinical knowledge is limited because FIRES is sporadic and extremely rare...
December 5, 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27880967/early-prenatal-mri-of-cervical-abortive-myelocystocele-case-report-and-review-of-the-literature
#12
Giacomo Talenti, Carlo Giussani, Cecilia Parazzini, Giana Izzo, Francesco Canonico, Patrizia Vergani, Andrea Righini
Cervical abortive myelocistocele is a very rare congenital malformation. In this case report, we describe the prenatal magnetic resonance imaging (MRI) of such entity in a 20-week gestational age fetus, whose imaging features showed to be different from the only other previous prenatal report. We underscored the value of fetal MR for counseling and prognosis, especially when assessing the integrity of the spinal cord.
November 23, 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27880966/age-dependency-of-location-of-epileptic-foci-in-continuous-spike-and-waves-during-sleep-a-parallel-to-the-posterior-anterior-trajectory-of-slow-wave-activity
#13
Bigna Katrin Bölsterli Heinzle, Thomas Bast, Hanne Critelli, Reto Huber, Bernhard Schmitt
Background Epileptic encephalopathy with continuous spike-and-waves during sleep (CSWS) occurs during childhood and is characterized by an activation of spike wave complexes during slow wave sleep. The location of epileptic foci is variable, as is etiology. A relationship between the epileptic focus and age has been shown in various focal epilepsies following a posterior-anterior trajectory, and a link to brain maturation has been proposed.We hypothesize that in CSWS, maximal spike wave activity, corresponding to the epileptic focus, is related to age and shows a posterior-anterior evolution...
November 23, 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27875839/severe-metabolic-acidosis-and-hepatopathy-due-to-leukoencephalopathy-with-thalamus-and-brainstem-involvement-and-high-lactate
#14
Elizabeth A Sellars, Tonya Balmakund, Katherine Bosanko, Brandi L Nichols, Stephen G Kahler, Yuri A Zarate
Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is a recently described autosomal recessive mitochondrial disease characterized by early onset of neurological symptoms, a biphasic clinical course, and distinctive neuroimaging. Pathogenic variants in the EARS2 gene that encode for mitochondrial glutamyl-tRNA synthetase are responsible for LTBL. Here, we describe the clinical course of an infant diagnosed with an acute crisis of LTBL and severe liver disease. This article illustrates the utility of blood lactate quantification in addition to basic metabolic testing and brain imaging in a child with low tone and poor growth...
November 22, 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27780283/sleep-disturbances-in-children-with-rolandic-epilepsy
#15
Maria Gogou, Katerina Haidopoulou, Maria Eboriadou, Evangelos Pavlou
Background The aim of this study is to investigate through polysomnography sleep quality in children with rolandic epilepsy and compare sleep variables between these children and healthy controls. Methods Our study population included 15 children with rolandic epilepsy and 27 healthy children who underwent overnight polysomnography. Parameters about sleep architecture and sleep respiratory events were recorded and analyzed. The level of statistical significance was set at 0.05. Results Patients and controls did not differ in basic epidemiological traits...
October 25, 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27824407/neuroendocrine-disorders-in-children
#16
Eugen Boltshauser
No abstract text is available yet for this article.
December 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27780282/clinical-images-a-cloudy-skull-hypophosphatasia-as-reason-for-copper-beaten-skull
#17
Martin Poryo, Sascha Meyer, Regina Eymann, Umut Yilmaz, Sogand Nemat, Tilman Rohrer
No abstract text is available yet for this article.
December 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27701681/long-term-health-outcomes-and-health-related-quality-of-life-in-adolescents-from-a-cohort-of-extremely-premature-infants-born-at-less-than-27-weeks-of-gestation-in-northern-germany
#18
Nele Stahlmann, Nora Eisemann, Ute Thyen, Egbert Herting, Marion Rapp
Background Little is known about the psychosocial development and health-related quality of life (HRQOL) of extremely preterm infants once they are adolescents. Methods The regional population-based study cohort included 90 extremely premature infants (< 27(+0) gestational weeks) born between January 1997 and December 1999 in the German state of Schleswig-Holstein. In addition to a neurological and cognitive Wechsler Intelligence Scale for Children, 4th edition assessment, self- and parent-reported psychological problems (Strengths and Difficulties Questionnaire), and health-related quality of life (KINDL(R)) were obtained and compared with a general population of 3,737 adolescents using data from a German Health Interview and Examination Survey for Children and Adolescents (KiGGS survey 2003-2006, Robert Koch Institute, Germany)...
December 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27676467/developmental-assessment
#19
Christoph Kuenzle
No abstract text is available yet for this article.
December 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27643693/neurologic-phenotypes-associated-with-mutations-in-trex1-rnaseh2a-rnaseh2b-rnaseh2c-samhd1-adar1-and-ifih1-aicardi-gouti%C3%A3-res-syndrome-and-beyond
#20
John H Livingston, Yanick J Crow
The Aicardi-Goutières syndrome (AGS) was first described in 1984, and over the following years was defined by the clinical and radiological features of an early onset, severe, neurologic disorder with intracranial calcification, leukoencephalopathy, and cerebral atrophy, usually associated with a cerebrospinal fluid (CSF) pleocytosis and elevated CSF interferon α activity. It is now recognized that mutations in any of the following seven genes may result in the classical AGS phenotype: TREX1 (AGS1), RNASEH2A (AGS2), RNASEH2B (AGS3), RNASEH2C (AGS4), SAMHD1 (AGS5), ADAR1 (AGS6), and IFIH1 (AGS7)...
December 2016: Neuropediatrics
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