Motor performance and handedness in children with developmental language disorder.

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：: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：: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：: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：: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：: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：: ...

journal_title：Neuropediatrics

authors： Dhawan SR,Goswami JN,Suthar R,Dayal D,Vyas S,Singhi PD

更新日期：2019-02-01 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：:We report the clinico-pathological findings regarding a 9 year-old girl with some clinical features of Kleine-Levin syndrome who died suddently as a result of pulmonary embolism in the course of femoro-iliac thrombophlebitis. Neuropathological examination provided evidence of perivascular inflammatory infiltrates and ...

journal_title：Neuropediatrics

authors： Fenzi F,Simonati A,Crosato F,Ghersini L,Rizzuto N

更新日期：1993-10-01 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：:A special form of partial occipital epilepsy clinically resembling migraine and possibly related to the benign focal epilepsies of childhood has recently attracted attention (Gastaut 1982) but its existence is still debated. To approach this problem, in a group of 195 children with idiopathic partial or generalized ep...

journal_title：Neuropediatrics

authors： Deonna T,Ziegler AL,Despland PA

更新日期：1984-08-01 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：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：: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：:The value of sural nerve biopsy in the diagnosis of metachromatic leucodystrophy (MLD) was studied in 9 MLD-patients and 4 other patients with low arylsulphatase A (ASA)-activities in the leucocytes. In 7 patients (5 of them suffering from MLD) adequate interpretation of low ASA-activity was impossible, either because...

journal_title：Neuropediatrics

authors： Vos AJ,Joosten EM,Gabreëls-Festen AA,Gabreëls FJ,Notermans SL,Lamers KJ

更新日期：1982-02-01 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：: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

abstract：:We report antiphospholipid antibody positivity in three of a consecutive series of 23 children presenting partial epileptic seizures. There was no clinical or serological evidence of systemic lupus erythematosus or other connective-tissue disease. Neither computed tomography nor magnetic resonance imaging revealed isc...

journal_title：Neuropediatrics

authors： Angelini L,Granata T,Zibordi F,Binelli S,Zorzi G,Besana C

更新日期：1998-10-01 00:00:00

abstract：:Gene expression in the central nervous system is highly region-specific. We tested the hypothesis that certain developmental biomarkers could be detected in the whole brain or in cortical, subcortical or cerebellar structures. Brain gene expressions of male and female rats at birth, 3 days, and 10 days of age were mea...

journal_title：Neuropediatrics

authors： Torbati D,Totapally BR,Raszynski A,Osborne J,Zyl Lv,Kalomiris S,Wolfsdorf J

更新日期：2008-08-01 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：OBJECTIVES:This study aims to evaluate the drawings effectiveness in childhood headache assessment. BACKGROUND:Headache is a common cause of pain in children. Although drawings have been used in childhood to recognize psychological insights and pain perception, they were rarely used for headache characterization. MET...

journal_title：Neuropediatrics

authors： Mazzotta S,Pavlidis E,Cordori C,Spagnoli C,Pini LA,Pisani F

更新日期：2015-08-01 00:00:00

abstract：:Mitochondrial dysfunction of the energy generating system was suggested in two infants with progressive infantile poliodystrophy characterised by hypotonia, refractory epilepsy, visual impairment, psychomotor retardation, profound brain atrophy, hepatopathy, and increased levels of lactate in blood and cerebrospinal f...

journal_title：Neuropediatrics

authors： Tesarova M,Mayr JA,Wenchich L,Hansikova H,Elleder M,Blahova K,Sperl W,Zeman J

更新日期：2004-08-01 00:00:00

abstract：: ...

journal_title：Neuropediatrics

authors： Forsyth R

更新日期：2018-12-01 00:00:00

abstract：:A child with hypoplasia of the cerebellum and brainstem in association with an unbalanced translocation, resulting in a partial deletion of the short arm of chromosome 5 and a partial trisomy of the short arm of chromosome 10, is described. A balanced translocation was present in his mother and maternal grandmother. A...

journal_title：Neuropediatrics

authors： Arts WF,Hofstee Y,Drejer GF,Beverstock GC,Oosterwijk JC

更新日期：1995-02-01 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：: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：OBJECTIVES:The present study investigates the effect of topical injections of botulinum toxin A into the cephalic salivary glands of children with chronic hypersalivation due to neurodegenerative diseases. METHODS:Five children with hypersalivation due to severe neurological diseases received, under ultrasound guidanc...

journal_title：Neuropediatrics

authors： Ellies M,Rohrbach-Volland S,Arglebe C,Wilken B,Laskawi R,Hanefeld F

更新日期：2002-12-01 00:00:00

abstract：:Etiological factors and long-term prognosis were studied in 562 cases with convulsive disorders in the first year of life; 114 (20.3%) were prenatal, 114 (20.3%) perinatal, 24 (4.3%) postnatal, and 257 cases (45.7%) were cryptogenic. The remaining 53 (9.4%) patients were doubtful cases. The mortality before six years ...

journal_title：Neuropediatrics

authors： Matsumoto A,Watanabe K,Sugiura M,Negoro T,Takaesu E,Iwase K

更新日期：1983-11-01 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