Ventricular Catheter Systems with Subcutaneous Reservoirs (Ommaya Reservoirs) in Pediatric Patients with Brain Tumors: Infections and Other Complications.

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：:Biotin-responsive basal ganglia disease is a rare entity of which 10 cases have been reported in the literature. We report a case of biotin-responsive basal ganglia disease with similarities and differences compared to the previously reported cases by Ozand et al. Our case presented much earlier, was milder and respon...

journal_title：Neuropediatrics

authors： El-Hajj TI,Karam PE,Mikati MA

更新日期：2008-10-01 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：: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：: ...

journal_title：Neuropediatrics

authors： Forsyth R

更新日期：2018-12-01 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：:Rett syndrome is a neurological disorder associated with cortical atrophy, stereotyped hand movements, dementia, and extrapyramidal dysfunction. Endogenous levels of dopamine and its metabolites are decreased throughout the neocortex and basal ganglia and the number of dopamine type 2 receptors are decreased in the pu...

journal_title：Neuropediatrics

authors： Wenk GL

更新日期：1995-04-01 00:00:00

abstract：:Cutis laxa is a heterogeneous group of diseases, characterized by abundant and wrinkled skin and a variable degree of intellectual disability. Cutis laxa, autosomal recessive, type IIIA and autosomal dominant 3 syndromes are caused by autosomal recessive or de novo pathogenic variants in ALDH18A1. Autosomal recessive ...

journal_title：Neuropediatrics

authors： Angelini C,Thibaud M,Aladjidi N,Bessou P,Cabasson S,Colson C,Espil-Taris C,Goizet C,Husson M,Morice-Picard F,De Sandre-Giovannoli A,Pédespan JM

更新日期：2020-08-01 00:00:00

abstract：:Mutations in the gene for the ganglioside-induced-differentiation-associated-protein 1 on 8q21 were recently reported to cause autosomal recessive Charcot-Marie-Tooth sensorimotor neuropathy. We report a detailed clinical, electrophysiological and genetic study of two young patients harbouring missense GDAP1 mutations...

journal_title：Neuropediatrics

authors： Rougeot C,Chabrier S,Camdessanche JP,Prieur F,d'Anjou MC,Latour P

更新日期：2008-06-01 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：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：: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：:Intracranial extent and distribution of leptomeningeal angiomatosis, visualized by magnetic resonance imaging (MRI) with Gadolinium-DTPA (Gd-DTPA) enhancement, is demonstrated in four children with Sturge-Weber syndrome (SWS). Aged 7, 9, 11 and 19 months, they presented with cutaneous, neurologic and ocular symptoms a...

journal_title：Neuropediatrics

authors： Sperner J,Schmauser I,Bittner R,Henkes H,Bassir C,Sprung C,Scheffner D,Felix R

更新日期：1990-08-01 00:00:00

abstract：:The present study comprises the neuroradiological examination (computertomography++, magnetic resonance imaging) of 26 children--9 of them were premature, 16 were full-term and in one patient, no details of the pregnancy were known--all suffering from: a) visual disturbance, not caused by ocular disease or afflictions...

journal_title：Neuropediatrics

authors： van Nieuwenhuizen O,Willemse J

更新日期：1988-02-01 00:00:00

abstract：: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 Japane...

journal_title：Neuropediatrics

authors： Tian M,Li J,Lei W,Shu X

更新日期：2019-04-01 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：:A 7-year-old boy had symmetrical transient high signal lesions in the external capsules on T2-weighted image during the recovery phase of herpes simplex virus (HSV) encephalitis. Although this finding has never been reported in HSV or other viral encephalitis, a postinfectious allergic mechanism is suspected in this p...

journal_title：Neuropediatrics

authors： Kimura S,Nezu A,Osaka H,Saito K

更新日期：1994-06-01 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：: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：:Clinical features of cerebrovascular occlusive disease with the moyamoya network (group 1: twenty-nine children) and those without this network (group 2: nine children) are reported herein. Group 1 was characterized by female preponderance, recurrent and transient ischemic attacks, progression of mental deterioration,...

journal_title：Neuropediatrics

authors： Kurokawa T,Chen YJ,Tomita S,Kishikawa T,Kitamura K

更新日期：1985-02-01 00:00:00

abstract：:Several de novo variants in the KIF1A gene have been reported to cause a complicated form of hereditary spastic paraplegia. Additional symptoms include cognitive impairment and varying degrees of peripheral neuropathy, epilepsy, decreased visual acuity, and ataxia. We describe four patients (ages 10-18 years), focusin...

journal_title：Neuropediatrics

authors： Van Beusichem AE,Nicolai J,Verhoeven J,Speth L,Coenen M,Willemsen MA,Kamsteeg EJ,Stumpel C,Vermeulen RJ

更新日期：2020-04-01 00:00:00

abstract：:A case of acute cerebellar ataxia with discrete signs of pyramidal and tegmental involvement is reported, several days after recovery from an upper respiratory infection of unknown etiology. Magnetic resonance imaging showed transient pontine lesions, disappearing in the convalescence phase. Laboratory tests establish...

journal_title：Neuropediatrics

authors： Groen RJ,Begeer JH,Wilmink JT,le Coultre R

更新日期：1991-11-01 00:00:00

abstract：:In two children affected with "Epilepsia Partialis Continua" (EPC) of progressive type, probably secondary to a slow encephalitis, the percentage of T-lymphocytes in CSF was lower than normal (30% compared to 90%). The CSF-T-lymphocytes are characterized by their ability to form E-rosettes. In one patient signs of int...

journal_title：Neuropediatrics

authors： Gaggero R,Ferraris PC,De Negri M

更新日期：1990-08-01 00:00:00

abstract：: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...

journal_title：Neuropediatrics

authors： Lu PS,Toh CH,Yeh CH,Wang HS,Lin KL,Wong AM

更新日期：2017-04-01 00:00:00

abstract：:The definition and the clinical picture of arthrogryposis multiplex congenita (AMC) are discussed and the associated anomalies, deformities and syndromes are listed. It is stressed that isolated congenital contractures in (progressive) neuromuscular disorders may be manifestations of AMC, dependent on the moment of th...

journal_title：Neuropediatrics

authors： Hageman G,Willemse J

更新日期：1983-02-01 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：:We report a nine-year-old boy with the features of Leigh syndrome (LS) and a severe cytochrome-c oxidase (COX) deficiency with a single thymidine insertion at nucleotide position 5537 (T 5537i) in the tRNA Trp gene of mitochondrial DNA. During infancy the boy was irritable and hypotonus was noticed. Early motor develo...

journal_title：Neuropediatrics

authors： Tulinius M,Moslemi AR,Darin N,Westerberg B,Wiklund LM,Holme E,Oldfors A

更新日期：2003-04-01 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：:Aim For children with medical complexity, interdisciplinary treatment approaches are required to address the various aspects defined within the biopsychosocial model. Methods The present study identifies dimensions of the biopsychosocial model to generate a standardized visualized severity score for chronic neurologic...

journal_title：Neuropediatrics

authors： Krieg SM,Sonanini S,Sollmann N,Focke A,Gerstl L,Heinen F

更新日期：2016-08-01 00:00:00

abstract：:Mucopolysaccharidosis type III (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with mental retardation, behavioural problems and seizures. Three patients, of 20 months to 12 years of age, were followed up for 3 years both clinically and by using brain ma...

journal_title：Neuropediatrics

authors： Barone R,Nigro F,Triulzi F,Musumeci S,Fiumara A,Pavone L

更新日期：1999-10-01 00:00:00