Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

abstract：:Multiple sulfatase deficiency (MSD, OMIM 272200) is an autosomal recessive leukodystrophy associated with the deficiency of several, in total seven, sulfatases. The disorder is clinically and biochemically variable. The clinical picture combines features of mucopolysaccharidosis and metachromatic leukodystrophy (MLD, ...

journal_title：Neuropediatrics

authors： Mancini GM,van Diggelen OP,Huijmans JG,Stroink H,de Coo RF

更新日期：2001-02-01 00:00:00

abstract：:The authors report a family in whom three members suffered from congenital hydrocephalus and ocular abnormalities. One of these patients showed along with these symptoms congenital muscular dystrophy. In this child, autopsy disclosed severe cerebral malformations consisting of lissencephaly, arhinencephaly, stenosis o...

journal_title：Neuropediatrics

authors： Pavone L,Gullotta F,Grasso S,Vannucchi C

更新日期：1986-11-01 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：:Cutis laxa is a heterogeneous group of diseases, characterized by abundant and wrinkled skin and a variable degree of intellectual disability. Cutis laxa, autosomal recessive, type IIIA and autosomal dominant 3 syndromes are caused by autosomal recessive or de novo pathogenic variants in ALDH18A1. Autosomal recessive ...

journal_title：Neuropediatrics

authors： Angelini C,Thibaud M,Aladjidi N,Bessou P,Cabasson S,Colson C,Espil-Taris C,Goizet C,Husson M,Morice-Picard F,De Sandre-Giovannoli A,Pédespan JM

更新日期：2020-08-01 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：:Autosomal recessive spastic ataxia of Charlevoix-Saguenay is an early onset form of hereditary spastic paraplegia with a peculiar clinical presentation. In addition to cerebellar findings which manifest first with ataxic gait in early life and spasticity, on an evolutionary basis, there is axonal neuropathy, prominent...

journal_title：Neuropediatrics

authors： Gücüyener K,Ozgül K,Paternotte C,Erdem H,Prud'homme JF,Ozgüç M,Topaloğlu H

更新日期：2001-06-01 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：:Positron Emission Tomography (PET) with 2-deoxy-2 [18F]-fluoro-D-glucose provides a measure of functional brain activity, particularly in the dendritic field. In CLN3 (juvenile neuronal ceroid lipofuscinosis or juvenile Batten disease, with fingerprint inclusions) hypometabolism slowly spreads from calcarine to anteri...

journal_title：Neuropediatrics

authors： Philippart M,da Silva E,Chugani HT

更新日期：1997-02-01 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：: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：: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：: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：:Brainstem auditory evoked potentials (BAEP) were studied in 93 newborns (49 preterm and 44 fullterm) admitted to the neonatal intensive care unit. One group of 42 infants (28-42 wk CA) were considered at low risk for perinatal complications and served to establish the normal ranges of the BAEP parameters (wave I peak ...

journal_title：Neuropediatrics

authors： Streletz LJ,Graziani LJ,Branca PA,Desai HJ,Travis SF,Mikaelian DO

更新日期：1986-05-01 00:00:00

abstract：:There are several causes of gingival hyperplasia and one of the most well-known is drug-induced gingival enlargement. Nevertheless, causes of congenital gingival enlargement include only hereditary and metabolic disorders. Only one case of drug-induced congenital gingival hyperplasia has been reported. We present the ...

journal_title：Neuropediatrics

authors： Rodríguez-Vázquez M,Carrascosa-Romero MC,Pardal-Fernández JM,Iniesta I

更新日期：2007-10-01 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：:Congenital glioblastoma multiforme is a rare tumor of the central nervous system with unique features. The existing evidence on its pathogenesis, genetic and molecular profile, special characteristics, treatment, and prognosis is reviewed. An increased number of antenatal diagnoses and prolonged survival for those ind...

journal_title：Neuropediatrics

authors： Anestis DM,Tsitsopoulos PP,Ble CA,Tsitouras V,Tsonidis CA

更新日期：2017-12-01 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

abstract：:Sleep polygraphic recording was carried out on 52 normal full-term babies. 16 infants were recorded at 2 - 7 days of age, 14 at 2 to 5 weeks, 13 at 6 to 9 weeks and 9 at 10 - 13 weeks. Central apneas of 2 sec and over were analysed in Active Sleep (AS), Quiet Sleep (QS) and Transitional Sleep (TS). Apnea Index (AI, pe...

journal_title：Neuropediatrics

authors： Flores-Guevara R,Plouin P,Curzi-Dascalova L,Radvanyi MF,Guidasci S,Pajot N,Monod N

更新日期：1982-05-01 00:00:00

abstract：:Two patients with acute encephalopathy with bilateral striatal necrosis are presented and the literature on the subject is reviewed. The disease is characterized by abrupt onset following a systemic infectious illness, with disturbance of consciousness, absence of speech, dystonic movements of the limbs, general stiff...

journal_title：Neuropediatrics

authors： Rosemberg S,Amaral LC,Kliemann SE,Arita FN

更新日期：1992-12-01 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 case of acute cerebellar ataxia with discrete signs of pyramidal and tegmental involvement is reported, several days after recovery from an upper respiratory infection of unknown etiology. Magnetic resonance imaging showed transient pontine lesions, disappearing in the convalescence phase. Laboratory tests establish...

journal_title：Neuropediatrics

authors： Groen RJ,Begeer JH,Wilmink JT,le Coultre R

更新日期：1991-11-01 00:00:00

abstract：:The fatty acid pattern of serum lecithin was studied in 31 children with hereditary motor and sensory neuropathies (HMSN) of types specified in the classification of Dyck et al. (1975). In 30 children no relevant changes were revealed. The remaining patient had changes which were reversible and were considered to be i...

journal_title：Neuropediatrics

authors： Alling C,Svennerholm L,Hagberg B,Westerberg B

更新日期：1981-02-01 00:00:00

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 mega-corpus callosum (CC) is not a common manifestation of neurological disease. Previous reports of patients with a constellation of findings including megalencephaly, perisylvian polymicrogyria, distinct facies, psychomotor retardation and mega-corpus callosum were designated as having megalencephaly, mega-corpus ...

journal_title：Neuropediatrics

authors： Pierson TM,Zimmerman RA,Tennekoon GI,Bönnemann CG

更新日期：2008-04-01 00:00:00

abstract：:The lumbar puncture and cerebrospinal fluid (CSF) opening pressure (OP) in children remains an essential diagnostic test for children with suspected elevated intracranial pressure. Recent prospective data have revised the normative CSF OP values and described how clinical variables such as age, depth of sedation, and ...

journal_title：Neuropediatrics

authors： Avery RA

更新日期：2014-08-01 00:00:00

abstract：:Autosomal recessive microcephaly has long been recognized in association with normal early motor development and mild to severe mental retardation. We report three sibling pairs with microcephaly and severe neurological impairment. These cases and other sibling pairs reported in the literature illustrate that microcep...

journal_title：Neuropediatrics

authors： Scheffer IE,Baraitser M,Wilson J,Godfrey C,Brett EM

更新日期：1992-02-01 00:00:00

abstract：: ...

journal_title：Neuropediatrics

authors： Forsyth R

更新日期：2018-12-01 00:00:00

abstract：:Two distinct disorders with elevated urinary excretion of 2-hydroxyglutaric acid are known: L-2-hydroxyglutaric aciduria and D-2-hydroxyglutaric aciduria. This paper presents clinical and biochemical studies in three patients and unsuccessful prenatal diagnosis in one case with combined D-2- and L-2-hydroxyglutaric ac...

journal_title：Neuropediatrics

authors： Muntau AC,Röschinger W,Merkenschlager A,van der Knaap MS,Jakobs C,Duran M,Hoffmann GF,Roscher AA

更新日期：2000-06-01 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：:Alpers-Huttenlocher syndrome (AHS) is a very rare autosomal recessive disorder. AHS is caused by homozygous or compound heterozygous mutations in the nuclear gene encoding mitochondrial DNA polymerase gamma (POLG, chromosome 15q25). Most patients become symptomatic before the age of 2 years. We report 3 patients who w...

journal_title：Neuropediatrics

authors： Spiegler J,Stefanova I,Hellenbroich Y,Sperner J

更新日期：2011-10-01 00:00:00