Cerebellar and brainstem hypoplasia in a child with a partial monosomy for the short arm of chromosome 5 and partial trisomy for the short arm of chromosome 10.

abstract：:We report a 7-year-old boy with serologic evidence of active Epstein-Barr virus (EBV) infection who developed transient unilateral hypoglossal nerve palsy, with complete recovery within 21 days. This is, to our knowledge, the youngest reported patient with isolated hypoglossal nerve palsy in the context of EBV infecti...

journal_title：Neuropediatrics

authors： Parano E,Giuffrida S,Restivo D,Saponara R,Greco F,Trifiletti RR

更新日期：1998-02-01 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：:Seven epileptic patients with permanent ataxic dysfunction following DPH treatment are described. The ataxia correlates with cerebellar atrophy, though the extents of clinical and structural lesions are not necessarily proportional. Cerebellar atrophy is demonstrated by CT scans, the vermal region seems to be predomin...

journal_title：Neuropediatrics

authors： Baier WK,Beck U,Doose H,Klinge H,Hirsch W

更新日期：1984-05-01 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：: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 patients suffering from neuronal ceroid lipofuscinosis, 33 of the juvenile type (JNCL) and 7 of the infantile type (INCL), underwent a brain CT. All INCL patients showed severe atrophic changes which were most pronounced supratentorially and in the brainstem. The white matter was hypodense and markedly reduced a...

journal_title：Neuropediatrics

authors： Raininko R,Santavuori P,Heiskala H,Sainio K,Palo J

更新日期：1990-05-01 00:00:00

abstract：:This study aimed to investigate whether antenatal taurine can reduce neuronal apoptosis in fetal rat brains with intrauterine growth restriction (IUGR) and its possible mechanisms. A total of 15 pregnant rats were randomly divided into the following three groups: control, IUGR, and IUGR+ antenatal taurine supplements....

journal_title：Neuropediatrics

authors： Liu J,Liu L,Wang XF,Teng HY,Yang N

更新日期：2012-10-01 00:00:00

abstract：:Four cases of hypomelanosis of Ito with typical skin depigmentation and various noncutaneous findings were described. This neurocutaneous syndrome has been well documented by clinical investigations, especially computerized tomography and magnetic resonance imaging of the brain. The literature is surveyed giving speci...

journal_title：Neuropediatrics

authors： Griebel V,Krägeloh-Mann I,Michaelis R

更新日期：1989-11-01 00:00:00

abstract：:A 7-year-old boy suffering from X-linked hypogammaglobulinemia and progressive myoclonic encephalopathy is reported. The onset of neurological disturbances is at four years of age with ataxic gait and myoclonic jerks. The EEG shows a progressive slowing of background activity, bilateral diffuse and repetitive, pseudop...

journal_title：Neuropediatrics

authors： Colamaria V,Marradi P,Boner A,Pajno-Ferrara F,Procacci C,Cesaro G,La Selva L,Capovilla G,Fontana E,Dalla Bernardina B

更新日期：1989-11-01 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：: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：:Between 1970 and 1986, 120 children with central nervous system malignancy were treated with radiation therapy. These included 44 low-grade astrocytomas, 11 high grade astrocytomas, 32 medulloblastomas, 15 ependymomas/ependymoblastomas, 3 primitive neuroectodermal tumors and 8 pineal tumors. Seven children were treate...

journal_title：Neuropediatrics

authors： Avizonis VN,Fuller DB,Thomson JW,Walker MJ,Nilsson DE,Menlove RL

更新日期：1992-10-01 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：: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：:Birth records of 97 children assessed at 18 months and found to be developmentally delayed were scored according to the optimality concept developed by Prechtl. These children were compared to a control series of 81 children. In order to evaluate the predictive validity of the parental developmental assessments perfor...

journal_title：Neuropediatrics

authors： Sonnander K,Gustavson KH

更新日期：1987-08-01 00:00:00

abstract：:A Japanese girl showed deterioration in development from the age of 13 months. At the age of 16 months, there were mild spastic diplegia, increase in cerebrospinal fluid protein to 61.5 mg/dl and deficient galactosylceramidase I. Magnetic resonance imaging (MRI) demonstrated a high signal intensity with increased T2 i...

journal_title：Neuropediatrics

authors： Kurokawa T,Chen YJ,Nagata M,Hasuo K,Kobayashi T,Kitaguchi T

更新日期：1987-08-01 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：BACKGROUND:Acute disseminated encephalomyelitis (ADEM) is the most common demyelinating disorder of childhood. Its clinical features, prognosis and treatment vary in different reports. OBJECTIVES:To examine a series of children with ADEM for clinical findings, course, recurrences, and possible variables affecting outc...

journal_title：Neuropediatrics

authors： Anlar B,Basaran C,Kose G,Guven A,Haspolat S,Yakut A,Serdaroglu A,Senbil N,Tan H,Karaagaoglu E,Karli Oguz K

更新日期：2003-08-01 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：:The aims of the present study were: to examine the quality of life (QOL) of parents of children with cerebral palsy (CP) and to establish the possible effect of behaviour problems on their QOL. One-hundred children with CP, aged between 4 and 10 years, and both their parents were included in the study. Both parents co...

journal_title：Neuropediatrics

authors： Romeo DM,Cioni M,Distefano A,Battaglia LR,Costanzo L,Ricci D,De Sanctis R,Romeo MG,Mazzone D,Mercuri E

更新日期：2010-06-01 00:00:00

abstract：:Mutations of the SCN2A gene have originally been described in association with benign familial neonatal-infantile seizures (BFNIS). Recently, single patients with more severe phenotypes and persisting epileptic encephalopathies have been recognized. We report the case of a girl with severe infantile onset epileptic en...

journal_title：Neuropediatrics

authors： Hackenberg A,Baumer A,Sticht H,Schmitt B,Kroell-Seger J,Wille D,Joset P,Papuc S,Rauch A,Plecko B

更新日期：2014-08-01 00:00:00

abstract：:At the age of five years a male child started to develop a progressive rigid spine, torsion scoliosis, and flexion contractures of his elbows, knees, hips, and ankles owing to severe proximal and distal muscle weakness. He had three muscle biopsies from three different muscles at ages 7, 11, and 14 years, respectively...

journal_title：Neuropediatrics

authors： Goebel HH,Halbig LE,Goldfarb L,Schober R,Albani M,Neuen-Jacob E,Voit T

更新日期：2001-08-01 00:00:00

abstract：OBJECTIVE:This study aims to describe complications related to ventricular catheter systems with subcutaneous reservoirs (VCSR) (such as Ommaya reservoirs) in pediatric patients with brain tumors. METHODS:Retrospective analysis of consecutive patients with a total of 31 VCSR treated at the Children's University Hospit...

journal_title：Neuropediatrics

authors： Gerber NU,Müller A,Bellut D,Bozinov O,Berger C,Grotzer MA

更新日期：2015-12-01 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

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：: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

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：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 14-year-old boy presented with a febrile illness associated with arthritis. Shortly later he developed mononeuritis multiplex. After certain typical skin lesions had developed after two months, the diagnosis cutaneous polyarteritis could be made. The diagnostic features of this benign disease, which may involve peri...

journal_title：Neuropediatrics

authors： Draaisma JM,Fiselier TJ,Mullaart RA

更新日期：1992-02-01 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