Electron microscopic examination of skin biopsy as a cost-effective tool in the diagnosis of lysosomal storage diseases.

abstract：:The outcomes of children with cryptogenic seizures most probably arising from the frontal lobe are difficult to predict. We retrospectively collected data on 865 pediatric patients with epilepsy. In 78 patients with cryptogenic frontal lobe epilepsy, the age at first seizure was inversely correlated with the outcome, ...

journal_title：Journal of child neurology

authors： Lee IC,Chen YJ,Lee HS,Li SY

更新日期：2014-12-01 00:00:00

abstract：:Macrocephaly-capillary malformation syndrome is characterized by cutaneous vascular malformations with associated anomalies as macrocephaly, macrosomia, hemihypertrophy, hypotonia, developmental delay, lax joints, loose skin, polysyndactyly, and neuroimaging abnormalities. We present a newborn with a prenatal diagnosi...

journal_title：Journal of child neurology

authors： Ercan TE,Oztunc F,Celkan T,Bor M,Kizilkilic O,Vural M,Perk Y,Islak C,Tuysuz B

更新日期：2013-01-01 00:00:00

abstract：:Retinoblastoma is the most common primary intraocular malignancy of childhood. It typically presents with leukocoria or strabismus. In later stages of the disease, the child may exhibit proptosis, buphthalmos, or hypopyon. The pathognomonic molecular aberration is a loss of function mutation in the RB1 gene on chromos...

journal_title：Journal of child neurology

authors： Ortiz MV,Dunkel IJ

更新日期：2016-02-01 00:00:00

abstract：:An epileptic syndrome of benign nocturnal childhood occipital epilepsy with excellent prognosis is described. The syndrome is characterized by a clinical ictal triad of nocturnal seizures, tonic deviation of the eyes, and vomiting. There may be marching to involve the head and limbs, ending with a generalized tonic-cl...

journal_title：Journal of child neurology

authors： Panayiotopoulos CP

更新日期：1989-01-01 00:00:00

abstract：:We recruited 128 neonates with hyperbilirubinemia over a 5-year period (1995-2000) to study the short- and long-term effects of hemolytic hyperbilirubinemia on the auditory brainstem pathway and neurodevelopmental status. These children were divided into two groups: (1) a hemolytic group (n = 29; ABO incompatibility [...

journal_title：Journal of child neurology

authors： Chen WX,Wong VC,Wong KY

更新日期：2006-06-01 00:00:00

abstract：:The past 10 years' experience with bone marrow transplantation from normal, immunologically compatible donors indicates its possible use in various neurometabolic diseases, particularly in a patient who has not suffered irreparable brain damage. This experience may be a prelude to treatment by somatic gene therapy. Th...

journal_title：Journal of child neurology

authors： Ozand PT,Gascon GG

更新日期：1992-04-01 00:00:00

abstract：:More than half of neonatal stroke survivors have long-term sequelae, including seizures and neurological deficits. Although the immature brain has tremendous potential for recovery, mechanisms governing repair are essentially unexplored. We investigated whether magnetic resonance imaging (MRI) early or late after tran...

journal_title：Journal of child neurology

authors： Dzietko M,Wendland M,Derugin N,Ferriero DM,Vexler ZS

更新日期：2011-09-01 00:00:00

abstract：:Baló concentric sclerosis is a unique and rare phenomenon in demyelinating disease. Typically thought of as a subtype of multiple sclerosis, Baló concentric sclerosis is characterized pathologically by striking rings of demyelination alternating with areas of preserved myelination. Its exact prevalence in adult and es...

journal_title：Journal of child neurology

authors： Linnoila J,Chitnis T

更新日期：2014-05-01 00:00:00

abstract：:Möbius' syndrome is a rare congenital anomaly characterized by paralysis of the 7th and other cranial nerves and musculoskeletal abnormalities. We report a patient with Möbius' syndrome associated with arthrogryposis and mega cisterna magna in addition to the classic components of this syndrome. The case is interestin...

journal_title：Journal of child neurology

authors： Yaris N,Aynaci FM,Kalyoncu M,Odemiş E,Okten A

更新日期：2004-01-01 00:00:00

abstract：:The authors conducted this study to identify whether bacille Calmette-Guérin (BCG) vaccination leads to an altered spectrum of neuroimaging findings outcome in pediatric patients with tuberculous meningitis. This retrospective study was conducted through chart review and review of computed tomography (CT) scans and ma...

journal_title：Journal of child neurology

authors： Wasay M,Ajmal S,Taqui AM,Uddin N,Azam I,Husen Y,Nizami SQ

更新日期：2010-05-01 00:00:00

abstract：:We have established the first prospective, collaborative study of spinal muscular atrophy, the second most common neuromuscular disease of childhood. One hundred and forty-one patients have been evaluated on at least four occasions over a 3-year period. The patients have been grouped by age of onset, as well as by fun...

journal_title：Journal of child neurology

authors： Russman BS,Iannacone ST,Buncher CR,Samaha FJ,White M,Perkins B,Zimmerman L,Smith C,Burhans K,Barker L

更新日期：1992-10-01 00:00:00

abstract：:We retrospectively identified 15 children ages 12 years and under with anticonvulsant resistant epilepsy who underwent a temporal lobectomy at Children's Hospital, Boston, between 1978 and 1993. Our aim was to study the long-term seizure outcome. Data pertaining to preoperative evaluation, electroencephalography (EEG)...

journal_title：Journal of child neurology

authors： Sotero de Menezes MA,Connolly M,Bolanos A,Madsen J,Black PM,Riviello JJ Jr

更新日期：2001-08-01 00:00:00

abstract：:Five children presented in the first months of life with progressive megalencephaly and leukodystrophy characterized by diffuse swelling of the white matter, cystic cavitations in frontal and temporal lobes, and a slow progressive course contrasting with the intensity of the leukodystrophic process. Four had epilepsy....

journal_title：Journal of child neurology

authors： Goutières F,Boulloche J,Bourgeois M,Aicardi J

更新日期：1996-11-01 00:00:00

abstract：:This article reports the results of a study on the relationship between cord blood levels of erythropoietin and periventricular leukomalacia. Cord blood was obtained from 19 infants with gestational age between 27 and 32 weeks. Cystic periventricular leukomalacia was seen in 4 of them. Erythropoietin levels were not d...

journal_title：Journal of child neurology

authors： Okumura A,Kidokoro H,Kato T,Kubota T,Hayakawa F,Kuno K,Watanabe K

更新日期：2008-02-01 00:00:00

abstract：:This investigation correlated incidence and degree of autonomic dysfunction with the degree of motor impairment in children hospitalized with Guillain-Barré syndrome. Motor weakness varies, as does the effect on autonomic function including heart rate, vasomotor stability, sweating, continence, and blood pressure. Aft...

journal_title：Journal of child neurology

authors： Dimario FJ Jr,Edwards C

更新日期：2012-05-01 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：:There has been increasing awareness that there are behavioral phenotypes in tuberous sclerosis complex with neuropsychiatric symptom complex such as autistic disorder and attention-deficit hyperactivity disorder (ADHD). However, the neurobiologic basis of autistic disorder in tuberous sclerosis complex is still unknow...

journal_title：Journal of child neurology

authors： Wong V

更新日期：2006-03-01 00:00:00

abstract：:The acquired alexia with agraphia syndrome is a conspicuous disorder of reading and writing in the absence of significant other language impairments that has mainly been recorded in adults. Pure cases are rare, with most patients displaying mild aphasic deficits. In children, acquired reading and writing disorders are...

journal_title：Journal of child neurology

authors： Paquier PF,De Smet HJ,Mariën P,Poznanski N,Van Bogaert P

更新日期：2006-04-01 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：:To describe associated ocular, neurologic, and systemic findings in a population of children with optic nerve hypoplasia, a retrospective chart review of 100 patients with optic nerve hypoplasia for the presence of neurologic, radiologic, and endocrine abnormalities was performed. Neuroimaging and endocrine studies we...

journal_title：Journal of child neurology

authors： Garcia ML,Ty EB,Taban M,David Rothner A,Rogers D,Traboulsi EI

更新日期：2006-11-01 00:00:00

abstract：:Autism is characterized by social deficits, communication and language impairments, narrow restricted interests, repetitive behaviors, inattention, and hyperactivity. While selective serotonin reuptake inhibitors have demonstrated efficacy in treating core symptoms of autism, norepinephrine reuptake inhibitors have de...

journal_title：Journal of child neurology

authors： Hollander E,Kaplan A,Cartwright C,Reichman D

更新日期：2000-02-01 00:00:00

abstract：:Abnormal cerebral venous drainage is associated with hypoxia and glucose deprivation, which can account for progressive neurologic deterioration in Sturge-Weber syndrome. Although developmental delay is common in Sturge-Weber syndrome, bihemispheric calcification is uncommon. Computed tomography (CT) and magnetic reso...

journal_title：Journal of child neurology

authors： Maria BL,Neufeld JA,Rosainz LC,Ben-David K,Drane WE,Quisling RG,Hamed LM

更新日期：1998-12-01 00:00:00

abstract：:Tuberous sclerosis complex is a multisystem, chronic genetic condition characterized by systemic growth of benign tumors and often accompanied by epilepsy, autism spectrum disorders, and intellectual disability. Nonetheless, the neurodevelopmental phenotype of these patients is not often detailed. The authors describe...

journal_title：Journal of child neurology

authors： Gipson TT,Poretti A,Thomas EA,Jenkins KT,Desai S,Johnston MV

更新日期：2015-12-01 00:00:00

abstract：:Facioscapulohumeral muscular dystrophy is one of the most prevalent muscular dystrophies in the world, resulting from the deletion of tandem repeats on chromosome 4q35. Extramuscular associations include sensorineural hearing loss, mental retardation, and epilepsy. These manifestations are commonly found in those with...

journal_title：Journal of child neurology

authors： Hobson-Webb LD,Caress JB

更新日期：2006-03-01 00:00:00

abstract：:To date, no study has evaluated changes in oral labial angle as preterm infants mature. The main purpose of this study was to document goniometer measurements of the labial angle of the mouth in preterm infants, to assess changes with development, to compare to findings in healthy term infants, and also evaluate oral ...

journal_title：Journal of child neurology

authors： Ince DA,Tugcu AU,Ecevit A,Ciyiltepe M,Kurt A,Abbasoğlu A,Tekindal MA,Tarcan A

更新日期：2015-10-01 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：:The 14 & 6 Hz positive spike phenomenon is generally considered a normal variant finding. Our experience prompted this re-evaluation, which consisted of three parts: In children referred for sleep electroencephalograms (EEGs), 100 children with normal EEG and 100 with 14 & 6--the 14 & 6 correlated with behavior disord...

journal_title：Journal of child neurology

authors： DeLong GR,Rosenberger PB,Hildreth S,Silver I

更新日期：1987-04-01 00:00:00

abstract：:Subacute sclerosing panencephalitis is an encephalopathy caused by a persistent measles virus infection. We examined a 13-year-old girl with subacute sclerosing panencephalitis and performed a magnetic resonance spectroscopic study to evaluate the in vivo pathophysiologic abnormality. The results suggested the occurre...

journal_title：Journal of child neurology

authors： Kato Z,Saito K,Yamada M,Asano T,Kondo N

更新日期：2002-10-01 00:00:00

abstract：:Subacute necrotizing encephalomyelopathy (Leigh syndrome) refers to a nebulous disease entity characterized by lactic acidosis, a wide variety a clinical manifestations, and a consistent conglomeration of pathologic findings. Several abnormalities in metabolism have been delineated in association with Leigh syndrome, ...

journal_title：Journal of child neurology

authors： Gingold MK,Bodensteiner JB,Schochet SS,Jaynes M

更新日期：1999-05-01 00:00:00

abstract：:A 2-year-old boy with an initial diagnosis of Hunter syndrome (mucopolysaccharidosis II) had a more severe phenotype than expected, which warranted further evaluation. The patient had severe infantile global neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, c...

journal_title：Journal of child neurology

authors： Burruss DM,Wood TC,Espinoza L,Dwivedi A,Holden KR

更新日期：2012-06-01 00:00:00