Two Cases of Pediatric AQP4-Antibody Positive Neuromyelitis Optica Spectrum Disorder Successfully Treated with Tocilizumab.

abstract：:Biotin-responsive basal ganglia disease is a rare entity of which 10 cases have been reported in the literature. We report a case of biotin-responsive basal ganglia disease with similarities and differences compared to the previously reported cases by Ozand et al. Our case presented much earlier, was milder and respon...

journal_title：Neuropediatrics

authors： El-Hajj TI,Karam PE,Mikati MA

更新日期：2008-10-01 00:00:00

abstract：AIM:The study aims to describe cerebral MRI in different onset forms of Niemann-Pick type C (NPC). Systematic MRI analyses in this rare lysosomal storage disease are lacking in the infantile and juvenile onset forms. METHODS:Thirty-two cerebral MRI scans from 19 patients with NPC were assessed using a newly establishe...

journal_title：Neuropediatrics

authors： Gburek-Augustat J,Groeschel S,Kern J,Beck-Woedl S,Just J,Harzer K,Stampfer M,Kraegeloh-Mann I

更新日期：2020-02-01 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：:We describe 6 unrelated patients affected by infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) with prolonged survival upon mechanical ventilation (4.5-11 years), which has not been reported before. Biallelic mutations in the IGHMBP2 gene proved the diagnosis of SMARD1 in all patients. Diseas...

journal_title：Neuropediatrics

authors： Rudnik-Schöneborn S,Stolz P,Varon R,Grohmann K,Schächtele M,Ketelsen UP,Stavrou D,Kurz H,Hübner C,Zerres K

更新日期：2004-06-01 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：: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：: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：: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：:18F fluorodeoxyglucose (18FDG) and positron tomography (PT) were used in 20 full term babies with seizures or hypotonia to describe regional cerebral glucose metabolism. Among babies with seizures, birth asphyxia was the most common cause. PT was performed at age 6-17 days. One hour before PT, 18FDG (50-100 microCi/kg...

journal_title：Neuropediatrics

authors： Thorp PS,Levin SD,Garnett ES,Nahmias C,Firnau G,Toi A,Upton AR,Nobbs PT,Sinclair JC

更新日期：1988-08-01 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：:Stimulant-associated growth deficits in children with attention deficit hyperactivity disorder (ADHD) have long been a concern. We chose 146 school age children diagnosed with ADHD being treated with methylphenidate (MPH) and 29 drug-free ADHD children, and followed them up for 2-4 years. We recorded the changes in he...

journal_title：Neuropediatrics

authors： Zhang H,Du M,Zhuang S

更新日期：2010-08-01 00:00:00

abstract：PURPOSE:We aim to correlate size and shape of corpus callosum with severity of motor and cognitive impairments in children with periventricular leukomalacia (PVL). METHODS:Children with PVL were stratified based on the severity of their motor and cognitive impairments. An age-matched control group was established. The...

journal_title：Neuropediatrics

authors： Davatzikos C,Barzi A,Lawrie T,Hoon AH Jr,Melhem ER

更新日期：2003-06-01 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：: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：: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：:Ataxia with oculomotor apraxia type 2 (AOA2), a neurodegenerative disorder with juvenile to adolescent onset is caused by mutations within the SENATAXIN gene ( SETX). We performed molecular analyses in six patients showing clinically an AOA2 phenotype and moderate to significant elevated serum alpha-fetoprotein levels...

journal_title：Neuropediatrics

authors： Bernard V,Stricker S,Kreuz F,Minnerop M,Gillessen-Kaesbach G,Zühlke C

更新日期：2008-12-01 00:00:00

abstract：:Melatonin ( N-acetyl-5-methoxytryptamine, aMT) is an indoleamine produced by several organs and tissues including the pineal gland. Melatonin (aMT) modulates the activity of the brain, mainly acting on both GABA and glutamate receptors. Previous studies have shown the participation of melatonin in the control of convu...

journal_title：Neuropediatrics

authors： Molina-Carballo A,Muñoz-Hoyos A,Sánchez-Forte M,Uberos-Fernández J,Moreno-Madrid F,Acuña-Castroviejo D

更新日期：2007-06-01 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：OBJECTIVE:To investigate the association between blood mercury level and attention-deficit hyperactivity disorder (ADHD) in Chinese children in Hong Kong. METHODS:Fifty-two children with ADHD aged below 18 years diagnosed by DSM IV criteria without perinatal brain insults, mental retardation or neurological deficits w...

journal_title：Neuropediatrics

authors： Cheuk DK,Wong V

更新日期：2006-08-01 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：: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：: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：:A forme fruste Rett variant female with partially preserved speech remnants is described. She was first seen by the author at an age of 4 years. She then presented with an unspecific syndrome of moderate mental retardation. At follow-up when aged 32 she had successively through the years developed a number of Rett cha...

journal_title：Neuropediatrics

authors： Hagberg B

更新日期：1995-04-01 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 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：: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：: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：:Clinical features of cerebrovascular occlusive disease with the moyamoya network (group 1: twenty-nine children) and those without this network (group 2: nine children) are reported herein. Group 1 was characterized by female preponderance, recurrent and transient ischemic attacks, progression of mental deterioration,...

journal_title：Neuropediatrics

authors： Kurokawa T,Chen YJ,Tomita S,Kishikawa T,Kitamura K

更新日期：1985-02-01 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：:This report describes a patient with Gaucher disease type II who developed severe rhabdomyolysis. We treated him successfully and measured various cytokine and chemokine levels sequentially to elucidate the pathophysiology of rhabdomyolysis. The serum levels of interleukin-6, -8, -10, granulocyte colony-stimulating fa...

journal_title：Neuropediatrics

authors： Wakusawa K,Haginoya K,Ishitobi M,Hino-Fukuyo N,Togashi N,Sato I,Ohura T,Yokoyama H,Kikuchi M,Iinuma K,Tsuchiya S

更新日期：2010-02-01 00:00:00