Hydrocephalus, lissencephaly, ocular abnormalities and congenital muscular dystrophy. A Warburg syndrome variant?

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：: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：: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：:Forty-four patients aged from one month to 16 years suffering from arterial stroke were carefully studied for any hereditary and acquired risk factors for stroke. No physiologic anticoagulant deficiency or antiphospholipid syndrome was found. Two patients had mitochondrial disease (MELAS). Six patients had migraineous...

journal_title：Neuropediatrics

authors： Riikonen R,Santavuori P

更新日期：1994-10-01 00:00:00

abstract：:A placebo or methylprednisolone (45-60 mg/M2) was administered in a crossover study as a single morning dose on alternate days to fourteen patients who had a familial progressive polyneuropathy that either began or was maximum in the distribution of the peroneal nerves. Neither the patients nor the examining physician...

journal_title：Neuropediatrics

authors： Prensky AL,Dodson WE

更新日期：1984-10-01 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：:In a retrospective, non-random study, the effect of supplementary medical treatment (Dexamethasone, barbiturates) was investigated upon the prognosis of severe head injuries. Of 107 children and adolescents up to 16 years of age, 51 were treated with Dexamethasone; 56 received only standard therapy. Evaluation of the ...

journal_title：Neuropediatrics

authors： Kretschmer H

更新日期：1983-08-01 00:00:00

abstract：BACKGROUND:Hereditary spastic paraplegia is a neurodegenerative phenotype characterized by a progressive loss of corticospinal motor tract function. In a majority of affected individuals the pathogenesis remains undetermined. METHODS:We identified a series of patients with a phenotype of nonsyndromic spastic paraplegi...

journal_title：Neuropediatrics

authors： Crow YJ,Zaki MS,Abdel-Hamid MS,Abdel-Salam G,Boespflug-Tanguy O,Cordeiro NJ,Gleeson JG,Gowrinathan NR,Laugel V,Renaldo F,Rodriguez D,Livingston JH,Rice GI

更新日期：2014-12-01 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：:We are reporting the unique coexistence of two distinct neuromuscular diseases, myotonic dystrophy and the juvenile form of myasthenia gravis, occurring in one family. A 16-month-old previously healthy female presented with a two month history of bilateral varying drooping of both eyelids and bilateral external ophtha...

journal_title：Neuropediatrics

authors： Maytal J,Spiro AJ,Sinnar S,Moshe SL

更新日期：1987-02-01 00:00:00

abstract：:Syringomyelia is an etiologically diverse affliction caused by disturbance of normal cerebrospinal fluid flow dynamics. An evaluation by comprehensive imaging, using advanced three-dimensional constructive interference in steady state and four-dimensional phase contrast imaging techniques, should be focused on finding...

journal_title：Neuropediatrics

authors： Vandertop WP

更新日期：2014-02-01 00:00:00

abstract：:Barbiturate anaesthesia is used in the treatment of status epilepticus and severe epilepsy of children. EEG is then used as a measure of the depth of anaesthesia, burst suppression being an easily identified EEG pattern. In this case report we describe epileptiform discharges during EEG suppression in two children und...

journal_title：Neuropediatrics

authors： Jäntti V,Eriksson K,Hartikainen K,Baer GA

更新日期：1994-10-01 00:00:00

abstract：BACKGROUND:In Rett syndrome the autonomic nervous system is abnormal at various levels, from the central to the peripheral nervous system. A role for serotoninergic dysfunction has been suggested. OBJECTIVES:The aim of our study was to evaluate the relation between cardiac dysautonomia (expressed by means of heart rat...

journal_title：Neuropediatrics

authors： Guideri F,Acampa M,Blardi P,de Lalla A,Zappella M,Hayek Y

更新日期：2004-02-01 00:00:00

abstract：:This study aimed to investigate the global oxidant/antioxidant status of infants with perinatal asphyxia and its relation to neurological outcomes. A prospective controlled study including term infants with perinatal asphyxia was conducted. Blood samples were obtained from patients and controls at 6-24 h and on the 3r...

journal_title：Neuropediatrics

authors： Aydemir O,Akar M,Uras N,Eras Z,Erdeve O,Oguz SS,Dilmen U

更新日期：2011-12-01 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：: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：: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 human neuroblastoma cell line, LA-N-1 was used as a target cell in a I131 radiolabeled staphylococcal protein-A (I131-SpA) binding assay, to characterize the pattern of antineuronal activity of human sera in fifty-four cases of systemic lupus erythematosus (SLE) including twenty-six patients with neuropsychiatric ma...

journal_title：Neuropediatrics

authors： Danon YL,Garty BZ

更新日期：1986-02-01 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：:B cell depletion with the anti-CD20-antibody rituximab is widely considered treatment of choice for long-term immunotherapy in aquaporin-4 (AQP4)-antibody positive neuromyelitis optica spectrum disorder (NMOSD). However, up to 30% of patients suffer from relapses despite complete B cell depletion. In these cases, the ...

journal_title：Neuropediatrics

authors： Breu M,Glatter S,Höftberger R,Freilinger M,Kircher K,Kasprian G,Seidl R,Kornek B

更新日期：2019-06-01 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：: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：:Twenty Japanese children with Moyamoya disease were investigated by examining the multimodality evoked potentials (BAEPs, FVEPs and SSEPs). BAEPs were abnormally prolonged wave I-III and wave III-V in each one (10%). FVEPs were abnormal in 6 (30%), included prolonged latencies, reduced amplitudes and poor waveform in ...

journal_title：Neuropediatrics

authors： Chen YJ,Kurokawa T,Kitamoto I,Ueda K

更新日期：1989-02-01 00:00:00

abstract：:Chorea Huntington (CH) is a dominantly inherited, neurodegenerative disease usually with adult onset. The course of CH is characterized by movement disturbances, psychiatric symptoms and it may lead to dementia. Typically death occurs after 10 to 20 years of CH duration. Invariably, the underlying mutation concerns an...

journal_title：Neuropediatrics

authors： Gencik M,Hammans C,Strehl H,Wagner N,Epplen JT

更新日期：2002-04-01 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：:Twenty-four hour continuous pneumocardiogram recordings were obtained on 250 healthy, normal infants in a hospital nursery on the first to third days of life. 73% of the infants showed no apneic episodes greater than 15 seconds in duration. 5% demonstrated longest apneic episodes greater than 20 seconds in duration wi...

journal_title：Neuropediatrics

authors： Stein IM,Fallon M,Merisalo RL,Kennedy JL Jr

更新日期：1983-05-01 00:00:00

abstract：:Two patients who postoperatively developed extensive multiseptated hydrosyringomyelia following surgical repair of a lumbal meningomyelocele are reported. Since MRI has been available, an increasing number of reports showed that MRI is useful in the diagnosis of hydrosyringomyelia. Hydrosyringomyelia can be considered...

journal_title：Neuropediatrics

authors： van Hall MH,Beuls EA,Wilmink JT,Boiten J,Vles JS

更新日期：1992-10-01 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：:A 1-year and 11-month-old female infant with bilateral lesions of the thalamus, basal ganglia, cerebellar and brainstem disease died from heart failure 9 days after being administered a measles vaccination. She had a high fever, hypocarnitinemic and non-ketotic hypoglycemia, serum levels of total carnitine 7.4 micromo...

journal_title：Neuropediatrics

authors： Okanari K,Takahashi M,Maeda T,Sato K,Suenobu S,Izumi T

更新日期：2007-12-01 00:00:00

abstract：:Neonatal seizures are the most prevalent and distinctive sign of neurologic dysfunction in early life and pose an immense challenge for clinicians. Improvements in neonatal care have increased the survival rate of extremely premature infants, considerably changing the spectrum of underlying etiologies, and instigating...

journal_title：Neuropediatrics

authors： Ramantani G,Schmitt B,Plecko B,Pressler RM,Wohlrab G,Klebermass-Schrehof K,Hagmann C,Pisani F,Boylan GB

更新日期：2019-10-01 00:00:00