Hemimegalencephaly and neurofibromatosis.

abstract：OBJECTIVE:The aim of this study was to evaluate the spectrum of muscle involvement on MRI in patients with autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD2) due to mutations in the lamin A/C gene and to compare it to the pattern found in other conditions with similar phenotype. PATIENTS AND METHODS:Nine pat...

journal_title：Neuropediatrics

authors： Mercuri E,Counsell S,Allsop J,Jungbluth H,Kinali M,Bonne G,Schwartz K,Bydder G,Dubowitz V,Muntoni F

更新日期：2002-02-01 00:00:00

abstract：:Alpers-Huttenlocher syndrome (AHS) is a very rare autosomal recessive disorder. AHS is caused by homozygous or compound heterozygous mutations in the nuclear gene encoding mitochondrial DNA polymerase gamma (POLG, chromosome 15q25). Most patients become symptomatic before the age of 2 years. We report 3 patients who w...

journal_title：Neuropediatrics

authors： Spiegler J,Stefanova I,Hellenbroich Y,Sperner J

更新日期：2011-10-01 00:00:00

abstract：:Fifty-five patients with microcephaly (head circumference < -2SD) were identified. The 55 patients were divided into two groups, consisting of group 1 (34 cases) in which genetic causes were considered primary, and group 2 (21 cases) in which intrauterine and/or postnatal acquired factors were thought to be responsibl...

journal_title：Neuropediatrics

authors： Sugimoto T,Yasuhara A,Nishida N,Murakami K,Woo M,Kobayashi Y

更新日期：1993-02-01 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：:We report a newborn with exaggerated startle reactions and stiffness of neonatal onset, the prototypical signs of hyperekplexia. Startle and flexor spasms, leading to apnoea, did not respond to treatment with clonazepam but did partially to sodium valproate. Molecular analysis of GLRA1 revealed no mutations. The incid...

journal_title：Neuropediatrics

authors： Macaya A,Brunso L,Fernández-Castillo N,Arranz JA,Ginjaar HB,Cuenca-León E,Corominas R,Roig M,Cormand B

更新日期：2005-12-01 00:00:00

abstract：:A previously healthy one-year-old boy, the youngest child of unrelated parents, presented with a four-week history of episodes of myoclonus triggered only by tactile stimulation to his head. There had been no loss of developmental skills. The electroencephalogram (EEG) revealed generalised polyspike wave activity both...

journal_title：Neuropediatrics

authors： Kurian MA,King MD

更新日期：2003-06-01 00:00:00

abstract：:Lacosamide (LCM) due to no known drug interaction and the absence of metabolic enzyme induction is a good candidate for an add-on medication, especially in combination with lamotrigine, levetiracetam (LEV), oxcarbazepine, topiramate, and valproic acid (VPA). Here we report for the first time, to our knowledge, that LC...

journal_title：Neuropediatrics

authors： Tountopoulou M,Weschke B,Kaindl AM

更新日期：2017-06-01 00:00:00

abstract：:Over the past few years there has been increasing awareness of the association of congenital choanal atresia (CCA) with other congenital defects, including brain abnormalities. We obtained CT scans of the brain in twenty-three consecutive patients with CCA (10 boys and 13 girls) to determine the prevalence and the sco...

journal_title：Neuropediatrics

authors： Rejjal A,Alaiyan S,Coates R,Abuzeid M

更新日期：1994-04-01 00:00:00

abstract：:We report the occurrence of subacute sclerosing panencephalitis (SSPE) in two brothers two years after measles infection. The diagnosis was confirmed by compatible data from medical history, occurrence of autochthonic measles virus (MV) IgG production in the central nervous system (CNS), and pathognomonic EEG changes....

journal_title：Neuropediatrics

authors： Vieker S,Schmitt JJ,Behrens C,Weissbrich B,Hartmann H

更新日期：2003-12-01 00:00:00

abstract：:A mega-corpus callosum (CC) is not a common manifestation of neurological disease. Previous reports of patients with a constellation of findings including megalencephaly, perisylvian polymicrogyria, distinct facies, psychomotor retardation and mega-corpus callosum were designated as having megalencephaly, mega-corpus ...

journal_title：Neuropediatrics

authors： Pierson TM,Zimmerman RA,Tennekoon GI,Bönnemann CG

更新日期：2008-04-01 00:00:00

abstract：INTRODUCTION:Cerebrovascular changes are rarely discussed in patients with hemimegalencephaly. These alterations have previously been associated with epileptical activity. CASE:We report the case of a 36-week gestation neonate presenting with total right hemimegalencephaly, as demonstrated by a magnetic resonance imag...

journal_title：Neuropediatrics

authors： Wintermark P,Roulet-Perez E,Maeder-Ingvar M,Moessinger AC,Gudinchet F,Meuli R

更新日期：2009-04-01 00:00:00

abstract：:We report on 12 children with neuronal ceroid lipofuscinosis (NCL) diagnosed between 1974-1995 in the West of Scotland. Diagnosis was made on the basis of clinical, electrophysiological, radiological and pathological examination including electron microscopy (EM) in all cases. Incidence was calculated on the basis of ...

journal_title：Neuropediatrics

authors： Crow YJ,Tolmie JL,Howatson AG,Patrick WJ,Stephenson JB

更新日期：1997-06-01 00:00:00

abstract：:In order to examine if specific findings from CT correlate with specific clinical or neurological findings, 30 children, 5 to 16 years old, born at term, affected by congenital hemiparesis without intellectual impairment, were submitted to neurofunctional and psychological assessment and examined by CT. 28 of the 30 c...

journal_title：Neuropediatrics

authors： Molteni B,Oleari G,Fedrizzi E,Bracchi M

更新日期：1987-05-01 00:00:00

abstract：:Introduction Guillain-Barré syndrome (GBS) is an autoimmune peripheral neuropathy characterized by demyelination and axonal damage. Biallelic functional polymorphisms in the immunoglobulin G Fc receptors (FcγR)-FcγRIIA: H131/R131, FcγRIIIA: V158/F158, and FcγRIIIB: NA1/NA2 affect the affinity of the IgG-FcγR interacti...

journal_title：Neuropediatrics

authors： Mansour LA,Girgis MY,Abdulhay M,ElEinein EI,ElHawary R,Hanna MO

更新日期：2016-06-01 00:00:00

abstract：:Careful clinical delineation and advances in analytical methods have opened new possibilities for the detection of inherited neurometabolic disorders, some of which require specific CSF analyses for diagnosis. Although patients suffering from these disorders have recognizable phenotypes, there are strong indications t...

journal_title：Neuropediatrics

authors： Hoffmann GF,Surtees RA,Wevers RA

更新日期：1998-04-01 00:00:00

abstract：:The authors report at adult age 7 patients (6 men, one woman) with the syndrome of "acquired aphasia-epilepsy", 6 of which had been previously studied as children. The results of the language, neuropsychological and socio-educational evaluation detailed many years after the onset of the aphasia are the subject of this...

journal_title：Neuropediatrics

authors： Deonna T,Peter C,Ziegler AL

更新日期：1989-08-01 00:00:00

abstract：:The authors report a family in whom three members suffered from congenital hydrocephalus and ocular abnormalities. One of these patients showed along with these symptoms congenital muscular dystrophy. In this child, autopsy disclosed severe cerebral malformations consisting of lissencephaly, arhinencephaly, stenosis o...

journal_title：Neuropediatrics

authors： Pavone L,Gullotta F,Grasso S,Vannucchi C

更新日期：1986-11-01 00:00:00

abstract：OBJECTIVE:The aim of this study was to investigate whether modified constraint-induced movement therapy (mCIMT) following a botulinum type A toxin (BoNT-A) injection enhances the effects of the BoNT-A injection into the spastic upper limb of children with hemiplegic cerebral palsy (CP). METHODS:A combined therapy with...

journal_title：Neuropediatrics

authors： Park ES,Rha DW,Lee JD,Yoo JK,Chang WH

更新日期：2009-12-01 00:00:00

abstract：:Narcolepsy type 1 (NT1) is a rare central disorder of hypersomnolence characterized by excessive daytime sleepiness, cataplexy, sleep paralysis, hallucinations, and fragmented nocturnal sleep usually arising in adolescence or young adulthood. Recently, the childhood NT1 diagnoses have increased for improved disease aw...

journal_title：Neuropediatrics

authors： Rocca FL,Pizza F,Ricci E,Plazzi G

更新日期：2015-06-01 00:00:00

abstract：BACKGROUND:Glutaryl-CoA dehydrogenase deficiency (GDD) is a recessively inherited neurometabolic disorder associated with encephalopathic crises and severe extrapyramidal symptoms. Treatment regimens including glucose and electrolyte infusions during acute illnesses, oral carnitine supplementation and/or a low-protein ...

journal_title：Neuropediatrics

authors： Hoffmann GF,Athanassopoulos S,Burlina AB,Duran M,de Klerk JB,Lehnert W,Leonard JV,Monavari AA,Müller E,Muntau AC,Naughten ER,Plecko-Starting B,Superti-Furga A,Zschocke J,Christensen E

更新日期：1996-06-01 00:00:00

abstract：:Two children with biotinidase deficiency presented with seizures at 2 months of age. The first child had a fluctuating course with continual developmental progress and cessation of seizures despite symptoms of chronic neurologic dysfunction until he was diagnosed at 17 months. The second child had a progressive course...

journal_title：Neuropediatrics

authors： Bousounis DP,Camfield PR,Wolf B

更新日期：1993-08-01 00:00:00

abstract：:This study aimed to investigate the global oxidant/antioxidant status of infants with perinatal asphyxia and its relation to neurological outcomes. A prospective controlled study including term infants with perinatal asphyxia was conducted. Blood samples were obtained from patients and controls at 6-24 h and on the 3r...

journal_title：Neuropediatrics

authors： Aydemir O,Akar M,Uras N,Eras Z,Erdeve O,Oguz SS,Dilmen U

更新日期：2011-12-01 00:00:00

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：PURPOSE:Ketogenic diets (KDs) are used to treat epilepsies resistant to pharmacotherapy or some inborn errors of metabolism. For prolonged anesthesia, use of balanced electrolyte solutions (BESs) supplemented with 0.5% glucose has been advocated to maintain ketosis while preventing hypoglycemia. Unfortunately, there is...

journal_title：Neuropediatrics

authors： Heiderich S,Dennhardt N,Hartmann H,Kluger GJ,Sümpelmann R,Herberhold T

更新日期：2020-12-01 00:00:00

abstract：:Functional MRI mapping of language areas in children frequently employs a covert verb generation task. Because responses are not monitored, the relationship between fMRI activation and task performance is unknown. We compared fMRI activation during covert and overt verb generation to performance during the overt task....

journal_title：Neuropediatrics

authors： Vannest J,Rasmussen J,Eaton KP,Patel K,Schmithorst V,Karunanayaka P,Plante E,Byars A,Holland S

更新日期：2010-10-01 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：:Fucosidosis, a progressive neurodegenerative disease, evident in early childhood, is associated with progressive loss of mental and motor function and increasing spasticity and hyperreflexia. We report a Canadian male, with clinical features similar to previously reported fucosidosis patients, however, since age 5 he ...

journal_title：Neuropediatrics

authors： Gordon BA,Gordon KE,Seo HC,Yang M,DiCioccio RA,O'Brien JS

更新日期：1995-12-01 00:00:00

abstract：:The neuronal ceroid-lipofuscinoses (NCL) are a group of inherited progressive encephalopathies. Striking histomorphological feature of the NCL is the accumulation of storage material within the lysosomes in neural and extraneural cells. The basic underlying defect causing the disease is not known. Presupposing a distu...

journal_title：Neuropediatrics

authors： Kieseier BC,Wisniewski KE,Schuller-Levis G,Park E,Goebel HH

更新日期：1996-08-01 00:00:00

abstract：:Two children with acute transverse myelopathy following adenovirus and Borrelia Burgdorferi infections are presented. The diagnosis stems from the clinical presentation, the determination of specific antibodies in serum and the favorable response to penicillin treatment in the case of neuroborreliosis. Both children m...

journal_title：Neuropediatrics

authors： Linssen WH,Gabreëls FJ,Wevers RA

更新日期：1991-05-01 00:00:00

abstract：:Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder with an incidence of ∼1 in 4,000 live births. Neurofibromin, the gene product, is ubiquitously expressed at high levels in the nervous system and functions as a tumor suppressor. Haploinsufficiency of neurofibromin through mutation leads to an incr...

journal_title：Neuropediatrics

authors： Barrea C,Vaessen S,Bulk S,Harvengt J,Misson JP

更新日期：2018-06-01 00:00:00