A novel MECP2 change in an indian boy with variant rett phenotype and congenital blindness: implications for genetic counseling and prenatal diagnosis.

abstract：:Sjögren-Larsson syndrome is an inherited disorder of lipid metabolism caused by mutations in the ALDH3A2 gene that codes for fatty aldehyde dehydrogenase, which results in accumulation of fatty aldehydes and alcohols and is characterized by ichthyosis, intellectual disability, and spastic diplegia/quadriplegia. The au...

journal_title：Journal of child neurology

authors： Davis K,Holden KR,S'Aulis D,Amador C,Matheus MG,Rizzo WB

更新日期：2013-10-01 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 general, people with learning disabilities are a heterogeneous population that require a multidisciplinary evaluation and careful, well-planned intervention. Despite this heterogeneity, patterns of problems often co-occur. Therefore, diagnosticians and educators should look beyond single areas of achievement such a...

journal_title：Journal of child neurology

authors： Johnson DJ

更新日期：1995-01-01 00:00:00

abstract：:Sixty-four children, aged 0-17 years, undergoing ambulatory electroencephalography (EEG) were prospectively recruited during a 12-month period. The diagnostic yield of ambulatory electroencephalography was determined for each of the following groups: group 1: differentiation of seizures from nonepileptic events; group...

journal_title：Journal of child neurology

authors： Wirrell E,Kozlik S,Tellez J,Wiebe S,Hamiwka L

更新日期：2008-06-01 00:00:00

abstract：:Febrile seizures are the most common form of childhood seizures. The exact mechanism promoting convulsions during a common febrile illness remains unknown, but it is accepted that genetic influences are likely to account for at least some of the cases. Previous studies reported high interleukin-1beta levels in the cer...

journal_title：Journal of child neurology

authors： Haspolat S,Baysal Y,Duman O,Coşkun M,Tosun O,Yeğin O

更新日期：2005-07-01 00:00:00

abstract：:Donnai-Barrow syndrome is a rare autosomal recessive disorder first described in 1993. This report presents ocular manifestations of this rare autosomal recessive disorder through 2 additional cases. Ocular features include hypertelorism, down-slanting palpebral fissures, iris coloboma, high myopia, and retinal detach...

journal_title：Journal of child neurology

authors： Patel N,Hejkal T,Katz A,Margalit E

更新日期：2007-04-01 00:00:00

abstract：BACKGROUND:Rufinamide, a triazole derivative, is a new-generation antiseizure medication with a novel mechanism of action. We evaluated the efficacy and safety of rufinamide treatment in children with epilepsy younger than 4 years at our center. METHODS:In this retrospective study, we included children younger than 4 ...

journal_title：Journal of child neurology

authors： Tanritanir A,Wang X,Loddenkemper T

更新日期：2021-03-01 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：:Epilepsy, together with mental retardation, represents a common manifestation of chromosomal aberrations. Specific electroencephalographic (EEG) and epileptic patterns have been described in several chromosomal disorders, such as Angelman's syndrome, Miller-Dieker syndrome, Wolf-Hirschhorn syndrome, and ring 20 syndro...

journal_title：Journal of child neurology

authors： Grosso S,Pucci L,Farnetani M,Di Bartolo RM,Galimberti D,Mostardini R,Anichini C,Balestri M,Morgese G,Balestri P

更新日期：2004-08-01 00:00:00

abstract：:Two children with neurofibromatosis and a chief complaint of severe, episodic, unilateral facial itching were found to have brainstem glioma. Initial computerized tomography of the brain was thought to be normal, but the brainstem tumor was subsequently demonstrated on magnetic resonance imaging. The paroxysmal facial...

journal_title：Journal of child neurology

authors： Summers CG,MacDonald JT

更新日期：1988-07-01 00:00:00

abstract：:Transient neonatal myasthenia gravis is a postsynaptic neuromuscular transmission defect occurring in 21% of infants born to women with active (and, less commonly, in remission) acquired myasthenia gravis. Although passive-transfer acetylcholine receptor (AChR) antibodies are found in the majority of these newborns, t...

journal_title：Journal of child neurology

authors： Papazian O

更新日期：1992-04-01 00:00:00

abstract：:We investigated familial and environmental risk factors in a cohort of South African children diagnosed with attention-deficit hyperactivity disorder (ADHD). A prospective, hospital-based case control study was conducted comprising 50 children diagnosed with ADHD and 50 matched non-ADHD controls. The adjusted effect o...

journal_title：Journal of child neurology

authors： van Dyk L,Springer P,Kidd M,Steyn N,Solomons R,van Toorn R

更新日期：2015-09-01 00:00:00

abstract：:We retrospectively analyzed the medical documentation of 194 children infected with Epstein-Barr virus. The diagnosis was based on clinical symptoms and the presence of the viral capsid antigen IgM antibody. Patients with severe neurologic complications also underwent neurologic examination, magnetic resonance imaging...

journal_title：Journal of child neurology

authors： Mazur-Melewska K,Breńska I,Jończyk-Potoczna K,Kemnitz P,Pieczonka-Ruszkowska I,Mania A,Służewski W,Figlerowicz M

更新日期：2016-05-01 00:00:00

abstract：:Little is known about psychiatric aspects of pediatric demyelinating conditions. A total of 23 youths (6-17 years) with demyelinating conditions underwent semistructured psychiatric interviews using the Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version. Adolescents...

journal_title：Journal of child neurology

authors： Weisbrot DM,Ettinger AB,Gadow KD,Belman AL,MacAllister WS,Milazzo M,Reed ML,Serrano D,Krupp LB

更新日期：2010-02-01 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：:As a community, physicians with expertise in child development and an appreciation of school-related challenges are uniquely positioned to enhance the well-being of children with specific learning disabilities. Efforts in such areas as differential diagnosis, enhancing communication between home and school and among p...

journal_title：Journal of child neurology

authors： Horowitz SH

更新日期：2004-10-01 00:00:00

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：:This study aimed to identify the age at first concern and age at referral for rehabilitation services in children with developmental disabilities in India. Two hundred fifty-nine children were included and data were collected from the parents. In children with developmental disabilities (excluding autism spectrum diso...

journal_title：Journal of child neurology

authors： Jain R,Juneja M,Sairam S

更新日期：2013-04-01 00:00:00

abstract：:Three children presented with a complex syndrome of atypical psychotic and extremely immature behavior, obesity and overgrowth, borderline retardation, and seizures (prominent in two). Weight overgrowth exceeded height overgrowth and was stratospheric (up to 8 SD above mean). Obesity seemed related to lack of satiety....

journal_title：Journal of child neurology

authors： Jobe A,Lewis D,Wainwright M,DeLong GR

更新日期：2000-08-01 00:00:00

abstract：:Idiopathic "benign" intracranial hypertension is an uncommon but important cause of headache that can lead to visual loss. This study was undertaken to review our experience in the diagnosis and management of idiopathic intracranial hypertension, giving special attention to treatments used. A retrospective chart revie...

journal_title：Journal of child neurology

authors： Salman MS,Kirkham FJ,MacGregor DL

更新日期：2001-07-01 00:00:00

abstract：:Muscular dystrophies are composed of a variety of genetic muscle disorders linked to different chromosomes and loci and associated with different gene mutations that lead to progressive muscle atrophy and weakness. Fukuyama congenital muscular dystrophy is frequently associated with partial and generalized epilepsy an...

journal_title：Journal of child neurology

authors： Tsao CY,Mendell JR

更新日期：2006-02-01 00:00:00

abstract：:To determine the plasma baclofen concentrations of children undergoing continuous intrathecal baclofen infusion for treatment of cerebral spasticity, we assayed plasma samples from six children, 8 to 18 years of age, who were receiving intrathecal baclofen at constant rates of 77 to 400 micrograms/day. Plasma levels w...

journal_title：Journal of child neurology

authors： Albright AL,Shultz BL

更新日期：1999-06-01 00:00:00

abstract：:A 13-month-old boy presented with repeated episodes of tongue biting during sleep. On evaluation, he was found to have hereditary chin trembling, a rare autosomal dominant condition characterized by continuous or intermittent tremulous activity of the mentalis muscle. This is the first report of this kind from India. ...

journal_title：Journal of child neurology

authors： Goraya JS,Virdi V,Parmar V

更新日期：2006-11-01 00:00:00

abstract：:A 3 1/2-year-old boy presented with megaloblastic anemia and recurrent episodes of severe lactic acidosis and coma. At age 4 years, he developed sepsis and died; postmortem examination failed to show any gross abnormality in any tissue. Biochemical analysis of muscle showed decreased activities for all respiratory cha...

journal_title：Journal of child neurology

authors： Akman CI,Sue CM,Shanske S,Tanji K,Bonilla E,Ojaimi J,Krishna S,Schubert R,DiMauro S

更新日期：2004-04-01 00:00:00

abstract：:The failure to diagnose an ependymoma at an appropriately early age led to an incomplete excision and a tumor burden too great for radiotherapy to control. The development of normative curves for brain weight correlated with head circumference allowed for the estimates of the extremes of possible growth rates of the t...

journal_title：Journal of child neurology

authors： Alvord EC Jr

更新日期：1986-07-01 00:00:00

abstract：:Corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus (CRASH syndrome) is an X-linked recessive disorder caused by mutations in the neuronal cell adhesion molecule L1 (LICAM) gene. L1 plays a key role in axon outgrowth and pathfinding during the development of the nervous syste...

journal_title：Journal of child neurology

authors： Sztriha L,Frossard P,Hofstra RM,Verlind E,Nork M

更新日期：2000-04-01 00:00:00

abstract：:We reported a case of an 8-year-old boy who was presented to the emergency department with left-sided hemiparesis. Computed tomography showed hypodense areas in the territory of the right middle cerebral artery, indicating acute cerebral infarct. Diagnostic evaluation was performed to identify the etiology. On the eig...

journal_title：Journal of child neurology

authors： Kazanci E,Oguz KK,Gurgey A,Topçu M

更新日期：2005-07-01 00:00:00

abstract：:The aim of this study was to clarify the relationship between neurologic findings and outcome of patients with West syndrome, focusing on the popliteal angle. The complete neurologic examination, including an assessment of the popliteal angle and muscle tone, was performed on 45 patients with West syndrome. A tight po...

journal_title：Journal of child neurology

authors： Okumura A,Kato T,Sei Y,Suzuki T,Morishita Y,Watanabe K

更新日期：2006-10-01 00:00:00

abstract：:The authors describe the case of an 8-year-old boy, otherwise healthy, who presented with symptoms consistent with attention-deficit hyperactivity disorder (ADHD) and was started on a trial of methylphenidate. Within 4 weeks, he experienced a rapid decline in fine motor skills, with dysarthria, intention tremor, motor...

journal_title：Journal of child neurology

authors： Waugh JL,Miller VS,Chudnow RS,Dowling MM

更新日期：2008-07-01 00:00:00

abstract：:Galloway-Mowat syndrome is a rare condition that is likely hereditary though the underlying offending gene has not been identified, and is characterized by microcephaly and severe nephrotic syndrome culminating in childhood death. Some of the reported cases have abnormalities in neuronal migration and intractable seiz...

journal_title：Journal of child neurology

authors： Keith J,Fabian VA,Walsh P,Sinniah R,Robitaille Y

更新日期：2011-04-01 00:00:00