The cytokine and chemokine profiles in rhabdomyolysis in a patient with Gaucher disease type II.

abstract：:The aims of this study were to suggest the rate of primary progressive (PP) subtype of pediatric onset multiple sclerosis (MS) in Isfahan, Iran, and describe its clinical and paraclinical features. The data of patients were retrieved from Isfahan MS Society (IMSS) database from April 2003 to August 2011. Among 3,843 M...

journal_title：Neuropediatrics

authors： Etemadifar M,Afzali P,Tabrizi N,Hosseini SA

更新日期：2013-06-01 00:00:00

abstract：:Alexander disease (AD) is a leukodystrophy caused by heterozygous mutations in the gene encoding the glial fibrillary acidic protein (GFAP). Currently, de novo heterozygous missense mutations in the GFAP gene are identified in over 95% of patients with AD. However, patients with biopsy-proven AD have been reported in ...

journal_title：Neuropediatrics

authors： Green L,Berry IR,Childs AM,McCullagh H,Jose S,Warren D,Craven I,Camm N,Prescott K,van der Knaap MS,Sheridan E,Livingston JH

更新日期：2018-04-01 00:00:00

abstract：OBJECTIVES:This study aims to evaluate the drawings effectiveness in childhood headache assessment. BACKGROUND:Headache is a common cause of pain in children. Although drawings have been used in childhood to recognize psychological insights and pain perception, they were rarely used for headache characterization. MET...

journal_title：Neuropediatrics

authors： Mazzotta S,Pavlidis E,Cordori C,Spagnoli C,Pini LA,Pisani F

更新日期：2015-08-01 00:00:00

abstract：:Positron Emission Tomography (PET) with 2-deoxy-2 [18F]-fluoro-D-glucose provides a measure of functional brain activity, particularly in the dendritic field. In CLN3 (juvenile neuronal ceroid lipofuscinosis or juvenile Batten disease, with fingerprint inclusions) hypometabolism slowly spreads from calcarine to anteri...

journal_title：Neuropediatrics

authors： Philippart M,da Silva E,Chugani HT

更新日期：1997-02-01 00:00:00

abstract：:18F fluorodeoxyglucose (18FDG) and positron tomography (PT) were used in 20 full term babies with seizures or hypotonia to describe regional cerebral glucose metabolism. Among babies with seizures, birth asphyxia was the most common cause. PT was performed at age 6-17 days. One hour before PT, 18FDG (50-100 microCi/kg...

journal_title：Neuropediatrics

authors： Thorp PS,Levin SD,Garnett ES,Nahmias C,Firnau G,Toi A,Upton AR,Nobbs PT,Sinclair JC

更新日期：1988-08-01 00:00:00

abstract：: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-lik...

journal_title：Neuropediatrics

authors： Alhusani A,Obaid A,Blom HJ,Wedell A,Alfadhel M

更新日期：2019-02-01 00:00:00

abstract：:An 11-year-old boy with attention deficit/hyperactivity disorder (ADHD) presented with visual hallucinations several years after starting methylphenidate (MPH). The hallucinations resolved upon discontinuation of the drug. Reports of toxic hallucinosis during treatment with MPH are rare. Although the pathogenetic mech...

journal_title：Neuropediatrics

authors： Porfirio MC,Giana G,Giovinazzo S,Curatolo P

更新日期：2011-02-01 00:00:00

abstract：OBJECTIVE:This article elucidates a clinical and genetic approach to pediatric early-onset chorea in patients with normal neuroimaging. METHODS:We retrospectively studied patients with onset hyperkinetic movement disorders. Only children with onset of chorea in the first 3 years of life were included, those with an ab...

journal_title：Neuropediatrics

authors： Blumkin L,Lerman-Sagie T,Westenberger A,Ben-Pazi H,Zerem A,Yosovich K,Lev D

更新日期：2018-08-01 00:00:00

abstract：BACKGROUND:Leukoencephalopathy associated with dysmorphic features may be attributed to chromosomal abnormalities such as 17p13.3 microdeletion syndrome. CASE:A 19-year-old female patient was referred to our hospital for diagnostic evaluation of her leukoencephalopathy. She demonstrated moderate intellectual disabilit...

journal_title：Neuropediatrics

authors： Hirasawa-Inoue A,Takeshita E,Shimizu-Motohashi Y,Ishiyama A,Saito T,Komaki H,Nakagawa E,Sugai K,Inoue K,Goto YI,Sasaki M

更新日期：2019-12-01 00:00:00

abstract：:The effects of malnutrition on conduction in peripheral and central somatosensory pathways in humans, as measured by short-latency somatosensory evoked potentials (SEPs) have not been previously reported. A group of 28 children with kwashiorkor were compared to a control group of 35 children, aged 6-36 months. The mal...

journal_title：Neuropediatrics

authors： Bartel PR,Conradie JM,Robinson E,Prinsloo JG,Becker P

更新日期：1989-02-01 00:00:00

abstract：:A number of frequently prescribed gastrointestinal drugs can cause movement disorders in children, as well as in adults. In our centre for paediatric neurology, we saw a 3-year-old girl with abnormal movements mostly of the legs with an inner restlessness (akathisia) while using cisapride. Another patient, a 17-year-o...

journal_title：Neuropediatrics

authors： Elzinga-Huttenga J,Hekster Y,Bijl A,Rotteveel J

更新日期：2006-04-01 00:00:00

abstract：:Autosomal recessive Charcot-Marie-Tooth syndrome (AR-CMT) is often characterised by an infantile disease onset and a severe phenotype. Mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene are thought to be a common cause of AR-CMT. Mutations in the periaxin (PRX) gene are rare. They a...

journal_title：Neuropediatrics

authors： Auer-Grumbach M,Fischer C,Papić L,John E,Plecko B,Bittner RE,Bernert G,Pieber TR,Miltenberger G,Schwarz R,Windpassinger C,Grill F,Timmerman V,Speicher MR,Janecke AR

更新日期：2008-02-01 00:00:00

abstract：:Melatonin ( N-acetyl-5-methoxytryptamine, aMT) is an indoleamine produced by several organs and tissues including the pineal gland. Melatonin (aMT) modulates the activity of the brain, mainly acting on both GABA and glutamate receptors. Previous studies have shown the participation of melatonin in the control of convu...

journal_title：Neuropediatrics

authors： Molina-Carballo A,Muñoz-Hoyos A,Sánchez-Forte M,Uberos-Fernández J,Moreno-Madrid F,Acuña-Castroviejo D

更新日期：2007-06-01 00:00:00

abstract：:A newborn female born at term was admitted at 28 hours for seizures and generalized hypotonia. Cerebral ultrasound showed a right temporal echogenic lesion confirmed on MRI and thought to be secondary to thrombosis of the vein of Labbé. The EEG showed epileptic discharges over the right temporal region. Extensive thro...

journal_title：Neuropediatrics

authors： Beretta L,Hauschild M,Jeannet PY,Addor MC,Maeder P,Truttmann AC

更新日期：2007-08-01 00:00:00

abstract：:Mucolipidosis IV, a severe neurologic and ophthalmologic progressive disorder has a clinical range of onset between early childhood and adolescence entailing clinically severe, moderate, and mild forms, all of them majorly affecting Ashkenazi Jewish patients in an autosomal-recessive fashion owing to mutations in the ...

journal_title：Neuropediatrics

authors： Bargal R,Goebel HH,Latta E,Bach G

更新日期：2002-08-01 00:00:00

abstract：:Neuronal ceroid lipofuscinoses (NCL) represent a group of common progressive encephalopathies of children with a global incidence of 1 in 12,500. NCL are divided into three autosomal recessive subtypes, all assigned to different chromosomal loci. The infantile subtype of NCL (INCL) is characterized by early visual los...

journal_title：Neuropediatrics

authors： Hellsten E,Vesa J,Jalanko A,Peltonen L

更新日期：1997-02-01 00:00:00

abstract：:We report on a 16-year-old girl with a unique neuromuscular disorder characterised by progressive proximal muscle weakness and numerous tubular aggregates, intracytoplasmic, as well as intranuclear inclusions of the IBM type in her muscle biopsy. The clinical features of the presented case, as manifested by the early ...

journal_title：Neuropediatrics

authors： Fidziańska A,Kamińska A,Ryniewicz B

更新日期：2005-02-01 00:00:00

abstract：:The morphological development of the brainstem was studied by means of MR imaging. The subjects were 74 cases ranging in age from 4 months to 16 years, and 6 adult cases. The brainstem development was rapid until 4-6 years of age and thereafter it slowed down. That is the brainstem showed exponential growth (w', t', v...

journal_title：Neuropediatrics

authors： Hashimoto T,Tayama M,Miyazaki M,Kuroda Y

更新日期：1991-08-01 00:00:00

abstract：:Forty-four patients aged from one month to 16 years suffering from arterial stroke were carefully studied for any hereditary and acquired risk factors for stroke. No physiologic anticoagulant deficiency or antiphospholipid syndrome was found. Two patients had mitochondrial disease (MELAS). Six patients had migraineous...

journal_title：Neuropediatrics

authors： Riikonen R,Santavuori P

更新日期：1994-10-01 00:00:00

abstract：:Observations of extreme unilateral widening of Virchow-Robin spaces (VRS) are rare and hitherto confined to adult, mainly old-aged patients. Magnetic resonance imaging (MRI) was performed in two unrelated boys aged 3 years with developmental coordination disorders. In one of these patients, follow-up MRI and diffusion...

journal_title：Neuropediatrics

authors： Brockmann K,Gröschel S,Dreha-Kulaczewski S,Reinhardt K,Gärtner J,Dechent P

更新日期：2009-10-01 00:00:00

abstract：:A 19-month-old boy presented with acute-onset cerebellar ataxia following immunisation. Ataxia was prolonged with a fluctuating course over a period of two years. Opsoclonus was never observed. Extensive diagnostic studies were negative during this time. Finally, a neuroblastoma was discovered. Ataxia disappeared comp...

journal_title：Neuropediatrics

authors： Wolff M,Schöning M,Niemann G,Krägeloh-Mann I

更新日期：2001-04-01 00:00:00

abstract：:Thiamine metabolism dysfunction syndrome type 2 is also known by other terms including: "SCL19A3 gene defect," "biotin-responsive basal ganglia disease" (BBGD), and "biotin-thiamine-responsive basal ganglia disease" (BTBGD). The worldwide incidence and prevalence of this disorder are unknown, but the syndrome has prim...

journal_title：Neuropediatrics

authors： Alfadhel M,Tabarki B

更新日期：2018-04-01 00:00:00

abstract：:Multiple sulfatase deficiency (MSD, OMIM 272200) is an autosomal recessive leukodystrophy associated with the deficiency of several, in total seven, sulfatases. The disorder is clinically and biochemically variable. The clinical picture combines features of mucopolysaccharidosis and metachromatic leukodystrophy (MLD, ...

journal_title：Neuropediatrics

authors： Mancini GM,van Diggelen OP,Huijmans JG,Stroink H,de Coo RF

更新日期：2001-02-01 00:00:00

abstract：BACKGROUND:Advanced modalities such as functional magnetic resonance imaging (MRI) and diffusion MR tractography offer in vivo information about brain networks and are therefore increasingly used for neurosurgical planning in children also. AIM:This study aims to study the application of routine and advanced tractogra...

journal_title：Neuropediatrics

authors： Küpper H,Groeschel S,Alber M,Klose U,Schuhmann MU,Wilke M

更新日期：2015-02-01 00:00:00

abstract：: ...

journal_title：Neuropediatrics

authors： Dhawan SR,Goswami JN,Suthar R,Dayal D,Vyas S,Singhi PD

更新日期：2019-02-01 00:00:00

abstract：:We describe a rare case of diffuse leptomeningeal oligodendrogliomatosis associated with the human herpes virus 6 variant A (HHV-6 A). A 2-year-old boy presented with progressive neurological symptoms and hydrocephalus. The patient had a VP shunt placement but did not fully recover. HHV-6 A was detected in both CSF an...

journal_title：Neuropediatrics

authors： Stödberg T,Deniz Y,Esteitie N,Jacobsson B,Mousavi-Jazi M,Dahl H,Zweygberg Wirgart B,Grillner L,Linde A

更新日期：2002-10-01 00:00:00

abstract：:A newborn with a rare type of lissencephaly is reported, characterized by extreme cerebral and cerebellar hypoplasia. The diagnosis was made by postmortem magnetic resonance imaging, indicating the value of such studies to evaluate neuronal migration disorders in patients in whom autopsy cannot be performed. Two earli...

journal_title：Neuropediatrics

authors： Kroon AA,Smit BJ,Barth PG,Hennekam RC

更新日期：1996-10-01 00:00:00

abstract：:Bilateral loss of median nerve cortical somatosensory evoked potentials (SEP) in comatose patients is reported to be one of the most discriminating predictors of poor outcome. We reviewed 53 children with bilateral absent cortical SEP with respect to their outcome and their follow-up SEP. Brain injury was caused by gl...

journal_title：Neuropediatrics

authors： Wohlrab G,Boltshauser E,Schmitt B

更新日期：2001-10-01 00:00:00

abstract：:There are several causes of gingival hyperplasia and one of the most well-known is drug-induced gingival enlargement. Nevertheless, causes of congenital gingival enlargement include only hereditary and metabolic disorders. Only one case of drug-induced congenital gingival hyperplasia has been reported. We present the ...

journal_title：Neuropediatrics

authors： Rodríguez-Vázquez M,Carrascosa-Romero MC,Pardal-Fernández JM,Iniesta I

更新日期：2007-10-01 00:00:00

abstract：:A newborn with multiple congenital contractures (MCC) or arthrogryposis multiplex congenita and a leukodystrophy is described. The clinical features and neurophysiological studies suggested a disorder primarily involving the central white matter. The diagnosis of connatal Pelizaeus-Merzbacher disease was made post mor...

journal_title：Neuropediatrics

authors： Novotny EJ Jr

更新日期：1988-11-01 00:00:00