From locus to cellular disturbances: positional cloning of the infantile neuronal ceroid lipofuscinosis gene.

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：: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：:Immunohistochemical study of catecholamine synthesizing enzymes tyrosine hydroxylase (TH) and phenylethanolamine-N-methyl transferase (PNMT) was performed in lower brain stem of 5 controls and 9 sudden infant death "syndrome" (SIDS) cases. No difference was noticed in TH immunoreactive neuronal groups. With anti-PNMT ...

journal_title：Neuropediatrics

authors： Kopp N,Chigr F,Denoroy L,Gilly R,Jordan D

更新日期：1993-02-01 00:00:00

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：: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：:Alternating hemiplegia of childhood (AHC) is a severe brain disorder, mainly characterised by episodes of hemiplegia, progressive mental retardation, and other severe paroxysmal and permanent neurological symptoms. Clinically and genetically, there is some overlap with sporadic (SHM) and familial (FHM) hemiplegic migr...

journal_title：Neuropediatrics

authors： de Vries B,Haan J,Stam AH,Vanmolkot KR,Stroink H,Laan LA,Gill DS,Pascual J,Frants RR,van den Maagdenberg AM,Ferrari MD

更新日期：2006-10-01 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：:24 healthy full-term newborns underwent polygraphic recordings of EEG, EMG, EOG, ECG, abdominal and thoracic respiration during day-time-sleep. Transient EEG patterns (rhythmic alpha and beta activity, spikes/sharp waves and frontal sharp transients) were visually evaluated and quantified. Rhythmic alpha activity is n...

journal_title：Neuropediatrics

authors： Statz A,Dumermuth G,Mieth D,Duc G

更新日期：1982-08-01 00:00:00

abstract：:GM1 and GM2 gangliosidoses are progressive neurodegenerative diseases which accumulate intralysosomal gangliosides--and to a lesser extent oligosaccharides--chiefly in the central and peripheral nervous system owing to deficiencies of beta-galactosidase and hexosaminidases A or/and B, respectively. This intralysosomal...

journal_title：Neuropediatrics

authors： Goebel HH

更新日期：1984-09-01 00:00:00

abstract：AIM: Tonic tics (TTs) are a part of a clinical picture of Gilles de la Tourette syndrome (GTS) and manifest themselves as sustained and isometric contraction of a muscle group devoid of the movement effect or accompanied by only slight visible motion. The aim of this study was to evaluate the prevalence and phenomenolo...

journal_title：Neuropediatrics

authors： Kaczyńska J,Janik P

更新日期：2021-01-14 00:00:00

abstract：:Observations of extreme unilateral widening of Virchow-Robin spaces (VRS) are rare and hitherto confined to adult, mainly old-aged patients. Magnetic resonance imaging (MRI) was performed in two unrelated boys aged 3 years with developmental coordination disorders. In one of these patients, follow-up MRI and diffusion...

journal_title：Neuropediatrics

authors： Brockmann K,Gröschel S,Dreha-Kulaczewski S,Reinhardt K,Gärtner J,Dechent P

更新日期：2009-10-01 00:00:00

abstract：:Developmental language disorder (DLD) is diagnosed when there is a failure of normal language development in a child with normal nonverbal intelligence. The discussion about additional or causal deficits is controversial. In this study a computer-based motor performance series with a tapping, aiming and pegboard movem...

journal_title：Neuropediatrics

authors： Preis S,Schittler P,Lenard HG

更新日期：1997-12-01 00:00:00

abstract：BACKGROUND:Sleep is known to improve the yield of EEG recording in children but is often difficult to obtain. In order to evaluate the efficacy and to test the practicability of oral melatonin in obtaining sleep for EEG recording, we studied its use in 70 children. RESULTS:Sleep was obtained in 56 children (80%) with ...

journal_title：Neuropediatrics

authors： Eisermann M,Kaminska A,Berdougo B,Brunet ML

更新日期：2010-08-01 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：:Micro syndrome is a rare condition in which congenital cataracts, microphthalmia, and facial dysmorphism are associated with severe neurological disorders, namely: microcephaly and psychomotor retardation. We report on polymicrogyria and motor neuropathy in a patient with Micro syndrome. These findings provide new ins...

journal_title：Neuropediatrics

authors： Nassogne MC,Henrot B,Saint-Martin C,Kadhim H,Dobyns WB,Sébire G

更新日期：2000-08-01 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：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：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：: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：:Leukodystrophies were defined in the 1980s as progressive genetic disorders primarily affecting myelin of the central nervous system. At that time, a limited number of such disorders and no associated gene defects were known. The majority of the leukodystrophy patients remained without a specific diagnosis. In the fol...

journal_title：Neuropediatrics

authors： Kevelam SH,Steenweg ME,Srivastava S,Helman G,Naidu S,Schiffmann R,Blaser S,Vanderver A,Wolf NI,van der Knaap MS

更新日期：2016-12-01 00:00:00

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：: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：OBJECTIVE:This article elucidates a clinical and genetic approach to pediatric early-onset chorea in patients with normal neuroimaging. METHODS:We retrospectively studied patients with onset hyperkinetic movement disorders. Only children with onset of chorea in the first 3 years of life were included, those with an ab...

journal_title：Neuropediatrics

authors： Blumkin L,Lerman-Sagie T,Westenberger A,Ben-Pazi H,Zerem A,Yosovich K,Lev D

更新日期：2018-08-01 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：:Two patients with insular and striatal postnatal scar had epileptic spasms (ES) that were asymmetrical and the only seizure type, whereas none of the usual ictal symptoms of insular seizures occurred. Ictal electroencephalography (EEG) showed the high-amplitude slow-wave characteristic of ES. Vigabatrin remained effic...

journal_title：Neuropediatrics

authors： Kharytonov V,Dulac O

更新日期：2020-08-01 00:00:00

abstract：:Birth asphyxia is a major concern in neonatal care. Epileptic seizures are associated with subsequent neurodevelopmental deficits. Eighty-five percent of these seizures remain subclinical and therefore an on-line monitoring device is needed. In an earlier study we showed that the synchronization likelihood was able to...

journal_title：Neuropediatrics

authors： Smit LS,Vermeulen RJ,Fetter WP,Strijers RL,Stam CJ

更新日期：2004-12-01 00:00:00

abstract：:We report here the efficacy of amantadine hydrochloride for two patients with alternating hemiplegia of childhood (AHC) that did not respond to flunarizine. Amantadine was administered to one patient at age one year and seven months and to the other at age 25 years. The frequencies and duration of the hemiplegic attac...

journal_title：Neuropediatrics

authors： Sone K,Oguni H,Katsumori H,Funatsuka M,Tanaka T,Osawa M

更新日期：2000-12-01 00:00:00

abstract：:Incidence of sudden death in Rett syndrome is greater than that of the general population and cardiac electrical instability is a prime suspect cause. Our study shows that girls with Rett syndrome had significantly lower heart rate variability (marker of autonomic disarray) and longer corrected QT intervals compared w...

journal_title：Neuropediatrics

authors： Guideri F,Acampa M,Hayek G,Zappella M,Di Perri T

更新日期：1999-06-01 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：: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