Acute encephalopathy with bilateral striatal necrosis. A distinctive clinicopathological condition.

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：OBJECTIVE:This study aims to ascertain frequency of mutations in POLR3A or POLR3B, which are associated with 4H leukodystrophy, in a cohort of patients with unclassified hypomyelination. METHODS AND RESULTS:In a cohort of 22 patients with the magnetic resonance imaging (MRI) diagnosis of unclassified hypomyelination a...

journal_title：Neuropediatrics

authors： Cayami FK,La Piana R,van Spaendonk RM,Nickel M,Bley A,Guerrero K,Tran LT,van der Knaap MS,Bernard G,Wolf NI

更新日期：2015-06-01 00:00:00

abstract：:Clinico-radiologic correlations, using CT, were studied in 29 patients with ataxic cerebral palsy. The scans were normal or only slightly abnormal in 38%, posterior fossa abnormalities occurred in 28%, and 55% had obvious cerebral abnormalities which always involved the parietal lobes. There were only two cases where ...

journal_title：Neuropediatrics

authors： Miller G,Cala LA

更新日期：1989-05-01 00:00:00

abstract：:Hemimegalencephaly, which previously has been associated with a poor clinical course characterized by intractable seizures and severe encephalopathy, was found without these conditions in two children with neurofibromatosis. These children showed relatively similar and favourable prognostic features: no presence of se...

journal_title：Neuropediatrics

authors： Cusmai R,Curatolo P,Mangano S,Cheminal R,Echenne B

更新日期：1990-11-01 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：: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：: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：:Seizures are the most common neurological emergency in the neonates, and this age group has the highest incidence of seizures compared with any other period of life. The author provides a narrative review of recent advances in the genetics of neonatal epilepsies, new neonatal seizure classification system, diagnostics...

journal_title：Neuropediatrics

authors： Samanta D

更新日期：2020-12-08 00:00:00

abstract：:In recent years, intrathecal baclofen (ITB) has attained an important role in the treatment of severe spasticity and dystonia in children. There are principal differences between the use of ITB in children and its use in neurology and oncology in adults. Here, we present a consensus report on best practice for the tre...

journal_title：Neuropediatrics

authors： Berweck S,Lütjen S,Voss W,Diebold U,Mücke KH,Aisch A,Ostertag B,Friedrich M,Wagner C,Kudernatsch M,Granel M,Kluger G,Ludwikowski B,Peraud A,Rauchenzauner M,Schroeder AS,Sprinz A,Wienand R,Wilken B,Kästner S,Zeches

更新日期：2014-10-01 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：:Data coming from a prospective multidisciplinary study with repeated examinations of children with fetal alcohol syndrome (FAS) are reported. These patients underwent pediatric, neurological and psychiatric assessment, EEG-recordings and psychological testing. After a period of 3-4 years various subgroups of these chi...

journal_title：Neuropediatrics

authors： Spohr HL,Steinhausen HC

更新日期：1987-02-01 00:00:00

abstract：:Hashimoto's encephalopathy (HE) is an acute or subacute relapsing disorder usually affecting euthyroid patients with evidence of autoimmune thyroiditis. The neurological manifestations are non-specific, with subacute cognitive impairment, movement disorders, generalized seizures, focal neurological symptoms such as st...

journal_title：Neuropediatrics

authors： Mancardi MM,Fazzini F,Rossi A,Gaggero R

更新日期：2005-06-01 00:00:00

abstract：AIM:The study aims to describe cerebral MRI in different onset forms of Niemann-Pick type C (NPC). Systematic MRI analyses in this rare lysosomal storage disease are lacking in the infantile and juvenile onset forms. METHODS:Thirty-two cerebral MRI scans from 19 patients with NPC were assessed using a newly establishe...

journal_title：Neuropediatrics

authors： Gburek-Augustat J,Groeschel S,Kern J,Beck-Woedl S,Just J,Harzer K,Stampfer M,Kraegeloh-Mann I

更新日期：2020-02-01 00:00:00

abstract：PURPOSE OF THE STUDY:To collect data on both the natural history of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) in children and their response to treatment. STUDY DESIGN:Retrospective multicentre study, using standardised criteria for the evaluation of hospital records and semi-quantitative scorin...

journal_title：Neuropediatrics

authors： Korinthenberg R

更新日期：1999-08-01 00:00:00

abstract：:A forme fruste Rett variant female with partially preserved speech remnants is described. She was first seen by the author at an age of 4 years. She then presented with an unspecific syndrome of moderate mental retardation. At follow-up when aged 32 she had successively through the years developed a number of Rett cha...

journal_title：Neuropediatrics

authors： Hagberg B

更新日期：1995-04-01 00:00:00

abstract：:A family composed of parents and four children is reported. Two brothers presented from early infancy with hypotonia and non-progressive weakness. Muscle biopsy in both revealed numerous typical nemaline rods. The father, suffering from backache, had a slow MNCV of both common peroneal nerves. His muscle revealed vari...

journal_title：Neuropediatrics

authors： Shapira YA,Yarom R,Blank A

更新日期：1981-05-01 00:00:00

abstract：:Stimulant-associated growth deficits in children with attention deficit hyperactivity disorder (ADHD) have long been a concern. We chose 146 school age children diagnosed with ADHD being treated with methylphenidate (MPH) and 29 drug-free ADHD children, and followed them up for 2-4 years. We recorded the changes in he...

journal_title：Neuropediatrics

authors： Zhang H,Du M,Zhuang S

更新日期：2010-08-01 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：:Antiquitin deficiency is the most prevalent form of pyridoxine-dependent epilepsy. While most patients present with neonatal onset of therapy-resistant seizures, a few cases with late-onset during infancy have been described. Here, we describe the juvenile onset of epilepsy at the age of 17 years due to antiquitin def...

journal_title：Neuropediatrics

authors： Srinivasaraghavan R,Parameswaran N,Mathis D,Bürer C,Plecko B

更新日期：2018-04-01 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：: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：PURPOSE:We aim to correlate size and shape of corpus callosum with severity of motor and cognitive impairments in children with periventricular leukomalacia (PVL). METHODS:Children with PVL were stratified based on the severity of their motor and cognitive impairments. An age-matched control group was established. The...

journal_title：Neuropediatrics

authors： Davatzikos C,Barzi A,Lawrie T,Hoon AH Jr,Melhem ER

更新日期：2003-06-01 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：: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：:We studied the effect of ACTH on plastic synapses in the hippocampal gyrus of the developing mouse brain. Examination of ethanolic phosphotungustic acid stained synaptic junctions revealed no obvious differences between the ACTH-treated brains and controls qualitatively and quantitatively. Therefore, ACTH may not adve...

journal_title：Neuropediatrics

authors： Tateno A,Koya N,Aoki T,Nasu F

更新日期：1987-11-01 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：:Infant botulism is caused by intestinal colonization by Clostridium botulinum, C. barati or C. butyricum. Infant botulism has only rarely been reported outside the USA. A 3-month-old boy developed constipation, lethargy, feeding difficulties and descending, severe, symmetric weakness. He was breastfed but had also bee...

journal_title：Neuropediatrics

authors： Balslev T,Ostergaard E,Madsen IK,Wandall DA

更新日期：1997-10-01 00:00:00

abstract：:We describe a 5.3-year-old girl with autism, mental retardation, hypotonia, marked speech delay, and mild dysmorphic features with a 22q11.2 duplication. Her mother carries the same duplication and presents cleft palate, and normal intelligence. The clinical and behavioural phenotype of this relatively new syndrome is...

journal_title：Neuropediatrics

authors： Lo-Castro A,Galasso C,Cerminara C,El-Malhany N,Benedetti S,Nardone AM,Curatolo P

更新日期：2009-06-01 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