Neurologic sequela in a patient with galactosemia potentially mediated by interleukin-11 dysfunction.

abstract：:Alexander disease is a leukodystrophy caused by dominant missense mutations in the gene encoding the glial fibrillary acidic protein. Individuals with this disorder often present with a typical neuroradiologic pattern including white matter abnormalities with brainstem involvement, selective contrast enhancement, and ...

journal_title：Journal of child neurology

authors： Tavasoli A,Armangue T,Ho CY,Whitehead M,Bornhorst M,Rhee J,Hwang EI,Wells EM,Packer R,van der Knaap MS,Bugiani M,Vanderver A

更新日期：2017-02-01 00:00:00

abstract：:Gelastic seizure is a rare symptom often associated with hypothalamic hamartoma. We present here a 4-year-old girl with gelastic epilepsy caused by hypothalamic hamartoma and report the magnetic resonance spectrometry and electroencephalographic (EEG) findings. At the age of 2 1/2 years, she developed brief, repetitiv...

journal_title：Journal of child neurology

authors： Wakai S,Nikaido K,Nihira H,Kawamoto Y,Hayasaka H

更新日期：2002-01-01 00:00:00

abstract：:Hereditary sensory and autonomic neuropathies have different phenotypes. We report 2 cousins with differing clinical courses of a hereditary sensory and autonomic neuropathy. The progressive disease in case 1 is dominated by loss of sensation, autonomic crises, and pain. Case 2 shows loss of sensation, mental retardat...

journal_title：Journal of child neurology

authors： Koy A,Freynhagen R,Mayatepek E,Tibussek D

更新日期：2012-02-01 00:00:00

abstract：:The aim of this study was to investigate the alteration of the gait pattern in 25 children with Duchenne muscular dystrophy, using body-worn inertial sensors during a long walking distance. Normalized spatiotemporal gait parameters and their variability were extracted from the angular velocity of the shanks; the smoot...

journal_title：Journal of child neurology

authors： Ganea R,Jeannet PY,Paraschiv-Ionescu A,Goemans NM,Piot C,Van den Hauwe M,Aminian K

更新日期：2012-01-01 00:00:00

abstract：OBJECTIVE:To quantify the number of personnel, time to induce and complete sedation using propofol for outpatient magnetic resonance imaging (MRI) of the brain, and the frequency of serious adverse events (SAEs) in children with autism spectrum disorder (ASD) compared with children without ASD. RESULTS:Baseline charac...

journal_title：Journal of child neurology

authors： Kamat PP,Karaga MK,Wisniewski BL,McCracken CE,Simon HK,Sidhu R,Grunwell JR

更新日期：2018-04-01 00:00:00

abstract：:Children with neurodevelopmental disorders are at increased risk for sleep issues, which affect quality of life, cognitive function, and behavior. To determine the prevalence of sleep problems in children with the common neurodevelopmental disorder neurofibromatosis type 1, a cross-sectional study was performed on 129...

journal_title：Journal of child neurology

authors： Licis AK,Vallorani A,Gao F,Chen C,Lenox J,Yamada KA,Duntley SP,Gutmann DH

更新日期：2013-11-01 00:00:00

abstract：:Intravenous immunoglobulin has been reported to be an effective treatment for infantile spasms. Juvenile spasms are electrically and clinically similar to infantile spasms but occur in a later age group. We retrospectively reviewed the charts of five children (aged 4.5-11.5 years) at our institution. Their primary sei...

journal_title：Journal of child neurology

authors： Bingel U,Pinter JD,Sotero de Menezes M,Rho JM

更新日期：2003-06-01 00:00:00

abstract：:Young children with sickle cell disease are at risk of brain damage, including stroke. We tested the hypothesis that such patients are also at risk of cognitive impairment. We characterized the cognitive ability of kindergarten children to minimize the effect of disease-related school absence. The Memphis City Schools...

journal_title：Journal of child neurology

authors： Steen RG,Hu XJ,Elliott VE,Miles MA,Jones S,Wang WC

更新日期：2002-02-01 00:00:00

abstract：:Smith-Lemli-Opitz syndrome is a unique malformation syndrome characterized by a defect in cholesterol biosynthesis, which is very rare among populations in Middle and East Asia. The authors identified compound heterozygous mutations ([p.Arg352Trp] + [p.Lys376ArgfsX37]) in a Korean girl with clinical and laboratory fea...

journal_title：Journal of child neurology

authors： Jong Hee Chae,Ki Joong Kim,Yong Seung Hwang,Ki CS,Kim JW

更新日期：2007-11-01 00:00:00

abstract：BACKGROUND:Metagenomic next-generation sequencing offers an unbiased approach to identifying viral pathogens in cerebrospinal fluid of patients with meningoencephalitis of unknown etiology. METHODS:In an 11-month case series, we investigated the use of cerebrospinal fluid metagenomic next-generation sequencing to diag...

journal_title：Journal of child neurology

authors： Erdem G,Kaptsan I,Sharma H,Kumar A,Aylward SC,Kapoor A,Shimamura M

更新日期：2020-11-18 00:00:00

abstract：:We accumulated 440 cases of intracranial meningiomas in patients under 16 years of age, and another 27 personal. This review confirms the existence of specific clinical features of spontaneous and radiation-induced meningioma in children. In addition, we discuss various points that suggest a more aggressive behavior o...

journal_title：Journal of child neurology

authors： Caroli E,Russillo M,Ferrante L

更新日期：2006-01-01 00:00:00

abstract：:Movement disorders, a common problem in children with neurologic impairment, are receiving increasing clinical attention. The differences in movement disorders between adults and children are striking; presentation is frequently insidious and may be characterized by mild hypotonia. The clinical manifestations of extra...

journal_title：Journal of child neurology

authors： Edgar TS

更新日期：2003-09-01 00:00:00

abstract：:Germinal matrix hemorrhage refers to bleeding that arises from the subependymal (or periventricular) germinal region of the immature brain. Clinical studies have shown that infants who experience germinal matrix hemorrhage can develop hydrocephalus or suffer from long-term neurologic dysfunction, including cerebral pa...

journal_title：Journal of child neurology

authors： Balasubramaniam J,Del Bigio MR

更新日期：2006-05-01 00:00:00

abstract：:Solitary tumefactive demyelination is rare in children, and the diagnosis is often conferred after brain biopsy. The authors report 3 children with solitary tumefactive demyelination and provide clinical and paraclinical clues to aid the clinician in reaching a diagnosis using a noninvasive approach. ...

journal_title：Journal of child neurology

authors： Morin MP,Patenaude Y,Sinsky AB,Banwell B,Sébire G

更新日期：2011-08-01 00:00:00

abstract：:The influence of severity of closed head injury and age on attentional functioning was prospectively investigated in 36 children (age range, 7 to 16 years) 6 months after injury. Children were placed into mild, moderate, and severe injury groups using established neurologic criteria. Each child received the Wechsler I...

journal_title：Journal of child neurology

authors： Kaufmann PM,Fletcher JM,Levin HS,Miner ME,Ewing-Cobbs L

更新日期：1993-10-01 00:00:00

abstract：AIM:We characterize the pediatric postural orthostatic tachycardia syndrome (POTS) population seen at a single tertiary care referral center. METHOD:Retrospective chart review of all pediatric POTS patients seen in our center between 2015 and 2017. Pediatric POTS was defined as chronic, at least 3 months, symptoms of ...

journal_title：Journal of child neurology

authors： Staples A,Thompson NR,Moodley M

更新日期：2020-07-01 00:00:00

abstract：:We report a 6-month-old boy with diffuse hypertonia and developmental delay who had unilateral separated-lip schizencephaly and contralateral polymicrogyria. The contralateral polymicrogyria was associated with an incomplete clefting in that hemisphere. An umbilical cord hamartoma is presumed to have caused hypoperfus...

journal_title：Journal of child neurology

authors： Hahn JS,Lewis AJ

更新日期：2003-03-01 00:00:00

abstract：:The most devastating complications of tuberous sclerosis complex affect the central nervous system and include epilepsy, mental retardation, autism, and glial tumors. Mutations in one of two genes, TSC1 and TSC2, result in a similar disease phenotype by disrupting the normal interaction of their protein products, hama...

journal_title：Journal of child neurology

authors： Scheidenhelm DK,Gutmann DH

更新日期：2004-09-01 00:00:00

abstract：:Despite being a treatable and preventable zoonosis, brucellosis is still endemic in certain areas of the world. Nervous system involvement is a rare but an important complication of brucellosis in childhood. Neurobrucellosis should be taken into consideration in the differential diagnosis of any kind of neurological s...

journal_title：Journal of child neurology

authors： Yilmaz S,Serdaroglu G,Gokben S,Tekgul H

更新日期：2011-10-01 00:00:00

abstract：:Mutations in the STE20-related kinase adaptor α ( STRADA) gene have been reported to cause an autosomal recessive neurodevelopmental disorder characterized by infantile-onset epilepsy, developmental delay, and craniofacial dysmorphisms. To date, there have been 17 reported individuals diagnosed with STRADA mutations, ...

journal_title：Journal of child neurology

authors： Nelson K,Jackman C,Bell J,Shih CS,Payne K,Dlouhy S,Walsh L

更新日期：2018-12-01 00:00:00

abstract：:Six cases of childhood multiple sclerosis (MS) are presented. All patients (three boys and three girls) were black and came from the Washington, DC, metropolitan area. Age at onset of the disease ranged from 8 to 17 years. Although motor deficits, optic neuritis, and ataxia were similar to those previously reported in...

journal_title：Journal of child neurology

authors： Zelnik N,Gale AD,Shelburne SA Jr

更新日期：1991-01-01 00:00:00

abstract：:The objective of this study was to compare the efficacy of corticotropin (ACTH) versus vigabatrin in treating infantile spasms and to determine which medication has a more favorable long-term outcome in terms of cognitive function, evolution of epilepsy, and incidence of autism. Patients with infantile spasms were inc...

journal_title：Journal of child neurology

authors： Askalan R,Mackay M,Brian J,Otsubo H,McDermott C,Bryson S,Boyd J,Snead C 3rd,Roberts W,Weiss S

更新日期：2003-03-01 00:00:00

abstract：:Paroxysmal kinesigenic dyskinesia is a rare episodic movement disorder that can be isolated or associated with benign infantile seizures as part of choreoathetosis syndrome. Mutations in the PRRT2 gene have been recently identified as a cause of paroxysmal kinesigenic dyskinesia and infantile convulsion and choreoathe...

journal_title：Journal of child neurology

authors： Zhang LM,An Y,Pan G,Ding YF,Zhou YF,Yao YH,Wu BL,Zhou SZ

更新日期：2015-09-01 00:00:00

abstract：:Acute cerebellitis is a rare condition often considered within the group of acute postinfectious cerebellar ataxia despite its distinctive clinical and imaging features. We retrieved clinical, laboratory, and follow-up data of 15 children diagnosed with acute cerebellitis in our department between 2011 and 2019. There...

journal_title：Journal of child neurology

authors： Yildirim M,Gocmen R,Konuskan B,Parlak S,Yalnizoglu D,Anlar B

更新日期：2020-05-01 00:00:00

abstract：:In this study we investigated centrally mediated parasympathetic regulation of modulated cardiac vagal tone among children with severe cyanotic and pallid breath-holding spells by examining respiratory sinus arrhythmia. Respiratory sinus arrhythmia was evaluated in 41 children; 17 subjects with cyanotic breath-holding...

journal_title：Journal of child neurology

authors： DiMario FJ Jr,Bauer L,Baxter D

更新日期：1998-09-01 00:00:00

abstract：:We describe a case of pathologically confirmed Alexander's disease in which serial cranial ultrasound studies demonstrated unique findings of enlarging subependymal cysts with evolving periventricular hyperechogenicity. Computed tomographic scan of the head showed low attenuation of the periventricular white matter an...

journal_title：Journal of child neurology

authors： Hess DC,Fischer AQ,Yaghmai F,Figueroa R,Akamatsu Y

更新日期：1990-07-01 00:00:00

abstract：:To evaluate the consistency of the Hammersmith Infant Neurological Examination scores of very-low-birth-weight infants at 6 and 12 months of age and its correlation to cranial ultrasonography findings, we designed a prospective study between January 2005 and January 2008, in the tertiary Neonatal Unit of Aristotle Uni...

journal_title：Journal of child neurology

authors： Karagianni P,Rallis D,Kyriakidou M,Tsakalidis C,Pratsiou P,Nikolaidis N

更新日期：2014-11-01 00:00:00

abstract：:The purpose of this study was to determine which clinical characteristics correlated with abnormal computed tomographic (CT) scans in epileptic children. Thirty variables were examined. Of these, four variables (presence of inherited or congenital disease, focal motor findings, developmental delay, and early onset of ...

journal_title：Journal of child neurology

authors： Koprowski C,Clancy R

更新日期：1986-04-01 00:00:00

abstract：:Childhood disintegrative disorder, a rare, relentlessly progressive neurologic disorder, first described by Heller in 1908, remains a condition of great interest. It has long been debated whether it is a discrete disorder or simply a late-onset variant of childhood autism. We have studied 6 cases of childhood disinteg...

journal_title：Journal of child neurology

authors： Rosman NP,Bergia BM

更新日期：2013-12-01 00:00:00

abstract：:Extensive optic nerve demyelinating lesions on magnetic resonance imaging (MRI) in adults could indicate a diagnosis other than multiple sclerosis with worse prognosis such as neuromyelitis optica. We report the frequency of longitudinally extensive lesions in children with first events of optic neuritis. Subjects had...

journal_title：Journal of child neurology

authors： Graves J,Kraus V,Soares BP,Hess CP,Waubant E

更新日期：2015-01-01 00:00:00