Neurophysiological and anatomical correlations in neonatal nonketotic hyperglycinemia.

abstract：:A 1-year and 11-month-old female infant with bilateral lesions of the thalamus, basal ganglia, cerebellar and brainstem disease died from heart failure 9 days after being administered a measles vaccination. She had a high fever, hypocarnitinemic and non-ketotic hypoglycemia, serum levels of total carnitine 7.4 micromo...

journal_title：Neuropediatrics

authors： Okanari K,Takahashi M,Maeda T,Sato K,Suenobu S,Izumi T

更新日期：2007-12-01 00:00:00

abstract：:Following administration of surfactant a marked depression in aEEG activity occurs for about 10 minutes; the mechanism of this depression is unknown. In view of this, twenty-nine preterm infants were investigated with near infrared spectroscopy (NIRS) to evaluate rapid changes in total cerebral haemoglobin concentrati...

journal_title：Neuropediatrics

authors： Skov L,Hellström-Westas L,Jacobsen T,Greisen G,Svenningsen NW

更新日期：1992-06-01 00:00:00

abstract：:The diagnosis of mitochondrial respiratory chain deficiency is usually made by analysis of mitochondrial respiratory chain activity in muscle biopsy. We describe 4 patients in whom the diagnosis was based on mitochondrial respiratory chain deficiency in liver alone. In 3 patients, liver complex IV activity was deficie...

journal_title：Neuropediatrics

authors： Panetta J,Gibson K,Kirby DM,Thorburn DR,Boneh A

更新日期：2005-08-01 00:00:00

abstract：:Primary degeneration of the granular layer of the cerebellum is an autosomal recessive disorder exhibiting characteristic clinical features: hypotonia, strabismus, delayed motor development, nonprogressive ataxia, delayed language development with dysarthria and mental retardation. We studied fourteen children, seven ...

journal_title：Neuropediatrics

authors： Pascual-Castroviejo I,Gutierrez M,Morales C,Gonzalez-Mediero I,Martínez-Bermejo A,Pascual-Pascual SI

更新日期：1994-08-01 00:00:00

abstract：:We report on the complication of gastroesophageal reflux (GER) in four patients with lower brainstem dysfunction. These patients suffered from perinatal asphyxia, cerebellar hemorrhage, or congenital dysphagia of unknown origin and showed facial nerve palsy, inspiratory stridor due to vocal cord paralysis, central sle...

journal_title：Neuropediatrics

authors： Saito Y,Kawashima Y,Kondo A,Chikumaru Y,Matsui A,Nagata I,Ohno K

更新日期：2006-06-01 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

abstract：OBJECTIVE:With the identification of mutations in the conserved telomere maintenance component 1 (CTC1) gene as the cause of Coats plus (CP) disease, it has become evident that leukoencephalopathy with calcifications and cysts (LCC) is a distinct genetic entity. PATIENTS AND METHODS:A total of 15 patients with LCC wer...

journal_title：Neuropediatrics

authors： Livingston JH,Mayer J,Jenkinson E,Kasher P,Stivaros S,Berger A,Cordelli DM,Ferreira P,Jefferson R,Kutschke G,Lundberg S,Ounap K,Prabhakar P,Soh C,Stewart H,Stone J,van der Knaap MS,van Esch H,van Mol C,Wakeling E,

更新日期：2014-06-01 00:00:00

abstract：:While prognostic information for Dandy-Walker syndrome and non-progressive cerebellar ataxia/cerebellar hypoplasia is available, surprisingly scant literature reports are found for space-occupying posterior fossa arachnoid cysts (PFAC). We describe the outcome of patients with symptomatic PFAC shunted as infants. Only...

journal_title：Neuropediatrics

authors： Boltshauser E,Martin F,Altermatt S

更新日期：2002-06-01 00:00:00

abstract：:Brainstem auditory evoked potentials (BAEP) were studied in 93 newborns (49 preterm and 44 fullterm) admitted to the neonatal intensive care unit. One group of 42 infants (28-42 wk CA) were considered at low risk for perinatal complications and served to establish the normal ranges of the BAEP parameters (wave I peak ...

journal_title：Neuropediatrics

authors： Streletz LJ,Graziani LJ,Branca PA,Desai HJ,Travis SF,Mikaelian DO

更新日期：1986-05-01 00:00:00

abstract：:Improvement of the prognosis for children suffering from hydrocephalus requires prompt diagnosis and reliable indication of surgical treatment. Today, intrauterine hydrocephalus is detectable within the first three months of pregnancy; in infancy, before the cranial sutures have fused, pathological growth of the head ...

journal_title：Neuropediatrics

authors： Gaab MR,Koos WT

更新日期：1984-10-01 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：: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：:Peroxisome biogenesis disorders (PBD) are a heterogeneous group of disorders due to PEX genes mutations, with a broad clinical spectrum comprising severe neonatal disease to mild presentation. Recently, Berendse et al reported an improvement of peroxisomal functions with l-arginine supplementation in fibroblasts with ...

journal_title：Neuropediatrics

authors： Sorlin A,Briand G,Cheillan D,Wiedemann A,Montaut-Verient B,Schmitt E,Feillet F

更新日期：2016-06-01 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：: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：:Two boys developed rhythmic involuntary movements in the extremities on one side of the body after febrile illness. They also showed behavioral disturbances. In both patients, serum antistreptolysin-O and antistreptokinase titers were elevated in acute illness and decreased a few months later. One patient showed tremo...

journal_title：Neuropediatrics

authors： Maegaki Y,Akaboshi S,Inagaki M,Takeshita K

更新日期：2000-04-01 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：:The content of free amino acids in the cerebrospinal fluid from 52 children in different age groups with febrile seizures were determined and compared to 88 age matched children without seizures. We found that the concentrations of some amino acids in CSF in the control group decreased slowly with age, reaching the co...

journal_title：Neuropediatrics

authors： Cremades A,Peñafiel R,Monserrat F,Ceron I,Perez-Flores D

更新日期：1989-08-01 00:00:00

abstract：:This report describes a patient with Gaucher disease type II who developed severe rhabdomyolysis. We treated him successfully and measured various cytokine and chemokine levels sequentially to elucidate the pathophysiology of rhabdomyolysis. The serum levels of interleukin-6, -8, -10, granulocyte colony-stimulating fa...

journal_title：Neuropediatrics

authors： Wakusawa K,Haginoya K,Ishitobi M,Hino-Fukuyo N,Togashi N,Sato I,Ohura T,Yokoyama H,Kikuchi M,Iinuma K,Tsuchiya S

更新日期：2010-02-01 00:00:00

abstract：:Congenital myasthenic syndromes (CMS) are rare genetically and clinically heterogeneous disorders characterized by an impaired neuromuscular transmission. Exact prevalence data are not available, approximately 2000 to 3000 patients worldwide have been diagnosed on a molecular level; mutations in 14 different genes are...

journal_title：Neuropediatrics

authors： Schara U,Della Marina A,Abicht A

更新日期：2012-08-01 00:00:00

abstract：:Nusinersen, an antisense oligonucleotide enhancing the production of the survival motor neuron protein, is approved for the treatment of spinal muscular atrophy (SMA) but requires repetitive lumbar punctures. Application via a subcutaneous port connected to a permanent intrathecal catheter has been proposed as an alte...

journal_title：Neuropediatrics

authors： Flotats-Bastardas M,Hahn A,Schwartz O,Linsler S,Meyer S,Kolodziej M,Koehler C

更新日期：2020-12-01 00:00:00

abstract：:Wolf-Hirschhorn syndrome (WHS) is a rare genetic disorder, which is caused by partial deletion of the short arm of one chromosome 4. Brain magnetic resonance (MR) imaging findings are lacking. We report on brain findings in 10 children with WHS. We evaluated the MR imaging films of 10 subjects affected by WHS, which h...

journal_title：Neuropediatrics

authors： Righini A,Ciosci R,Selicorni A,Bianchini E,Parazzini C,Zollino M,Lodi M,Triulzi F

更新日期：2007-02-01 00:00:00

abstract：:Rett syndrome affects young girls. The molecular basis is mysterious. One tenable hypothesis can be that the programmed early infantile death of neuronal cells is reprogrammed. The bcl-2 gene on chromosome 22 has been shown to play a role in the apoptosis process. No sequence abnormalities were detected in the bcl-2 g...

journal_title：Neuropediatrics

authors： Anvret M,Zhang ZP,Hagberg B

更新日期：1994-12-01 00:00:00

abstract：BACKGROUND:Danon disease is caused by a primary deficiency of lysosome-associated membrane protein-2 (LAMP-2). MATERIALS AND METHODS:Our study describes a 19-year-old man with isolated hypertrophic cardiomyopathy, in whom we performed DNA analysis and compared results of microscopic analysis of skeletal and cardiac mu...

journal_title：Neuropediatrics

authors： Fidzianska A,Madej-Pilarczyk A,Walczak E,Kuch M

更新日期：2013-10-01 00:00:00

abstract：:Sleep polygraphic recording was carried out on 52 normal full-term babies. 16 infants were recorded at 2 - 7 days of age, 14 at 2 to 5 weeks, 13 at 6 to 9 weeks and 9 at 10 - 13 weeks. Central apneas of 2 sec and over were analysed in Active Sleep (AS), Quiet Sleep (QS) and Transitional Sleep (TS). Apnea Index (AI, pe...

journal_title：Neuropediatrics

authors： Flores-Guevara R,Plouin P,Curzi-Dascalova L,Radvanyi MF,Guidasci S,Pajot N,Monod N

更新日期：1982-05-01 00:00:00

abstract：:Acute herpes simplex encephalitis (HSE) carries significant morbidity and mortality even after early treatment with antiviral agents (7). As well as causing acute neurological disease, Herpes viruses are associated with relapsing--remitting (Varicella--Zoster, Epstein-Barr) and chronic (Rasmussen encephalitis) disease...

journal_title：Neuropediatrics

authors： Asenbauer B,McEntagart M,King MD,Gallagher P,Burke M,Farrell MA

更新日期：1998-06-01 00:00:00

abstract：PURPOSE:The aim of this study was to correlate hypoxic-ischemic white matter damage on neonatal MRI with MRI appearance and neurological outcome at the age of 1 1/2 years. PATIENTS AND METHODS:A sequential cohort of infants with periventricular densities on neonatal ultrasound was studied with neonatal MRI. Images of ...

journal_title：Neuropediatrics

authors： Sie LT,Hart AA,van Hof J,de Groot L,Lems W,Lafeber HN,Valk J,van der Knaap MS

更新日期：2005-04-01 00:00:00

abstract：:Twenty Japanese children with Moyamoya disease were investigated by examining the multimodality evoked potentials (BAEPs, FVEPs and SSEPs). BAEPs were abnormally prolonged wave I-III and wave III-V in each one (10%). FVEPs were abnormal in 6 (30%), included prolonged latencies, reduced amplitudes and poor waveform in ...

journal_title：Neuropediatrics

authors： Chen YJ,Kurokawa T,Kitamoto I,Ueda K

更新日期：1989-02-01 00:00:00

abstract：PURPOSE:The term clinical functional magnetic resonance imaging (fMRI) describes an examination with direct clinical impact on the patient. Interpretation of clinical fMRI especially in children, however, is often difficult due to suboptimal data quality. The current gold standard is standardized visual evaluation. To ...

journal_title：Neuropediatrics

authors： Zsoter A,Staudt M,Wilke M

更新日期：2012-10-01 00:00:00

abstract：:We report on two Japanese siblings (one female and one male) with PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy). They showed profound generalized hypotonia early in infancy and developed infantile spasms with hypsarrhythmia within the first year of life. Abnormal eye movement...

journal_title：Neuropediatrics

authors： Fujimoto S,Yokochi K,Nakano M,Wada Y

更新日期：1995-10-01 00:00:00