Alexander Disease.

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：:Clinical and subclinical seizures occur frequently among children with autistic spectrum disorders. Electrographic status epilepticus in sleep, or continuous spike-wave in slow-wave sleep, is a typical feature of acquired epileptic aphasia and Landau-Kleffner syndrome. Seizures and epilepsy are more common among child...

journal_title：Journal of child neurology

authors： Trevathan E

更新日期：2004-08-01 00:00:00

abstract：:Klonopin (clonazepam; Genentech Inc, South San Francisco, California) oral wafers are benzodiazepines with anticonvulsive and anxiolytic properties. Our institution has been prescribing clonazepam wafers for acute treatment of prolonged seizures for years. Patients' size determined dosing at 0.25, 0.5, 1, or 2 mg wafe...

journal_title：Journal of child neurology

authors： Troester MM,Hastriter EV,Ng YT

更新日期：2010-12-01 00:00:00

abstract：:Behçet disease is a systemic vasculitis of unknown etiology that can affect the neurologic system. Neuro-Behçet disease is not well defined in children and adolescents, and the diagnosis is difficult to make in this population as they often present with insufficient symptoms to meet diagnostic criteria. Psychiatric sy...

journal_title：Journal of child neurology

authors： Patel P,Steinschneider M,Boneparth A,Lantos G

更新日期：2014-09-01 00:00:00

abstract：:Pediatric brain tumors are the leading cause of cancer-related death during childhood. Since the first pediatric brain tumor clinical trials, the field has seen improved outcomes in some, but not all tumor types. In the past few decades, a number of promising new therapeutic agents have emerged, yet only a few of thes...

journal_title：Journal of child neurology

authors： Bornhorst M,Hwang EI

更新日期：2016-10-01 00:00:00

abstract：:The 1960s were a period of great flowering in the recognition of neurologic disorders in children. The so-called ataxic cerebral palsies were an especially fertile field waiting for clarification. Congenital ataxia coupled with hyperpnea-apnea, abnormal eye movements, and retardation was identified as an autosomal-rec...

journal_title：Journal of child neurology

authors： Andermann F,Andermann E,Ptito A,Fontaine S,Joubert M

更新日期：1999-09-01 00:00:00

abstract：:We describe a case of pediatric Sjögren's syndrome with progressive neurologic involvement. At age 4 years, she had been diagnosed with Melkersson-Rosenthal syndrome. After being stable with facial diplegia and swelling for 5 years, she acutely presented with diplopia, vertigo, and ataxia. Cranial magnetic resonance i...

journal_title：Journal of child neurology

authors： Gottfried JA,Finkel TH,Hunter JV,Carpentieri DF,Finkel RS

更新日期：2001-09-01 00:00:00

abstract：:Recent technological advances in gene sequencing have led to a rapid increase in gene discovery in epilepsy. However, the ability to assess pathogenicity of variants, provide functional analysis, and develop targeted therapies has not kept pace with rapid advances in sequencing technology. Thus, although clinical gene...

journal_title：Journal of child neurology

authors： Smith LA,Ullmann JF,Olson HE,Achkar CM,Truglio G,Kelly M,Rosen-Sheidley B,Poduri A

更新日期：2017-03-01 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：BACKGROUND:Spinal muscular atrophy is an autosomal-recessive, progressive neuromuscular disease associated with extensive morbidity. Children with spinal muscular atrophy have potentially increased life spans due to improved nutrition, respiratory support, and novel pharmaceuticals. OBJECTIVES:To report on the quality...

journal_title：Journal of child neurology

authors： Weaver MS,Hanna R,Hetzel S,Patterson K,Yuroff A,Sund S,Schultz M,Schroth M,Halanski MA

更新日期：2020-04-01 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：:The ultimate goal for management of patients with cerebral palsy is to help them grow up to become as independent as possible, learn to make their own choices in life, and pursue their own dreams. Optimal mobility is crucial to achieving independence and is also necessary for better health and quality of life in these...

journal_title：Journal of child neurology

authors： Brunstrom JE

更新日期：2001-01-01 00:00:00

abstract：:A 3-year-old boy who had been a 23-week premature infant had subacute onset of abnormal gait, which progressed to generalized weakness with severe weakness of neck extensors. He had U waves on electrocardiography. His serum potassium was 1.8 mmol/L. The patient had a gastrostomy tube due to chronic feeding issues and ...

journal_title：Journal of child neurology

authors： Brosch JR,Sant RV,Golomb MR

更新日期：2011-03-01 00:00:00

abstract：UNLABELLED:This study evaluates whether the literature-reported potential predictors can predict the outcome of multilevel botulinum toxin A injections in children who walk with flexed knees. The associations between 11 different predictors and 2 different outcome measures (the Gross Motor Function Measure and knee ang...

journal_title：Journal of child neurology

authors： Scholtes VA,Dallmeijer AJ,Becher JG

更新日期：2008-06-01 00:00:00

abstract：:High-functioning adolescents and young adults with mitochondrial disease are now attempting transitions to postsecondary environments. This pilot and case study explores factors that interfere with their successful transition through behavior-rating scales addressing academic skills and behavior. In the Behavior Asses...

journal_title：Journal of child neurology

authors： Schreiber H

更新日期：2012-12-01 00:00:00

abstract：:Attention Deficit Hyperactivity Disorder (ADHD) is associated with altered cerebellar volume and cerebellum is associated with cognitive performance. However there are mixed results regarding the cerebellar volume in young patients with ADHD. To clarify the size and direction of this effect, we conducted the analysis ...

journal_title：Journal of child neurology

authors： Wyciszkiewicz A,Pawlak MA,Krawiec K

更新日期：2017-02-01 00:00:00

abstract：:Fusiform dilation of the internal carotid artery complicates aggressive craniopharyngioma resection and occurs mainly in children. We report a case to describe the availability of endovascular treatment for this rare entity. A 13-year-old boy presented with headache for 2 years after resection of craniopharyngioma. A ...

journal_title：Journal of child neurology

authors： Li Q,Wang C,Xu J,You C

更新日期：2015-09-01 00:00:00

abstract：:We assessed 10 youth football players (13.4 ± 0.7 y) immediately before and after their season to explore the effects of football participation on selected clinical measures of neurologic function. Postseason postural stability in a closed-eye condition was improved compared to preseason (P = .017). Neurocognitive tes...

journal_title：Journal of child neurology

authors： Munce TA,Dorman JC,Odney TO,Thompson PA,Valentine VD,Bergeron MF

更新日期：2014-12-01 00:00:00

abstract：:The authors report on a 45-day-old boy with a congenital intramedullary tumor with clinical manifestations since birth. Neurologic examination disclosed severe bilateral lower-limb hypotonia and diplegia, with exacerbated deep tendon reflexes and clonus associated with severe pain at manipulation. Further evaluation o...

journal_title：Journal of child neurology

authors： Nunes ML,Coutinho LM,Janisch C,Ehlers JA

更新日期：1999-07-01 00:00:00

abstract：:A pilot case-control study was done to collect data on whether susceptibility to newborn encephalopathy and neonatal seizures is influenced by the degree of maternal-fetal sharing of HLA antigens. Cases included 13 infants with moderate or severe newborn encephalopathy and seven infants with neonatal seizures but no o...

journal_title：Journal of child neurology

authors： Cowan LD,Hudson L,Bobele G,Chancellor I,Baker J

更新日期：1994-04-01 00:00:00

abstract：:This is the first study to evaluate the efficacy of riboflavin for migraine prophylaxis in children. This was a randomized, double-blind study of riboflavin (200 mg daily) versus placebo in 48 children. The primary efficacy measure was the number of patients achieving a 50% or greater reduction in the number of migrai...

journal_title：Journal of child neurology

authors： MacLennan SC,Wade FM,Forrest KM,Ratanayake PD,Fagan E,Antony J

更新日期：2008-11-01 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：:Hypertensive encephalopathy is an uncommon but recognized complication of malignant hypertension in children. We reviewed the clinical course, laboratory studies, and outcomes of 12 patients with hypertensive encephalopathy seen at the University of Iowa Hospitals and Clinics between 1979 and 1994. The most common pre...

journal_title：Journal of child neurology

authors： Wright RR,Mathews KD

更新日期：1996-05-01 00:00:00

abstract：:The voltage-sensitive calcium channel probe 125I-omega-GVIA conotoxin has been shown to be a developmental marker in whole brain preparations of Swiss Webster mice. The present study looks more carefully at regional dissections of the mouse brain (cerebrum, cerebellum, and brain stem) at postnatal day 8 and postnatal ...

journal_title：Journal of child neurology

authors： Litzinger MJ,Mouritsen CL,Grover BB,Esplin MS,Abbott JR

更新日期：1994-01-01 00:00:00

abstract：:A 12-year-old boy presented with complaints of seizures since the age of 7 years. Seizure semiology was consistent with origin from the right temporal lobe. Magnetic resonance imaging of the brain revealed a large right temporal and multiple small intracranial cavernomatous hemangiomas. The imaging findings and clinic...

journal_title：Journal of child neurology

authors： Sharma S,Sankhyan N,Gulati S,Kumar A

更新日期：2010-11-01 00:00:00

abstract：:Recently, a new disease entity has been defined: the disease of vanishing white matter. This leukoencephalopathy has an autosomal-recessive mode of inheritance. No cause or biochemical marker is known. We studied cerebrospinal fluid amino acids in five patients with the disease and found a consistent, moderate elevati...

journal_title：Journal of child neurology

authors： van der Knaap MS,Wevers RA,Kure S,Gabreëls FJ,Verhoeven NM,van Raaij-Selten B,Jaeken J

更新日期：1999-11-01 00:00:00

abstract：:Glucose metabolism of children with drug-resistant epilepsy, controlled by antiepileptic drugs epilepsy, and first-time nonfebrile seizures was studied through the performance of an oral glucose tolerance test and through insulin, C-peptide, and glycosylated hemoglobin measurements. In the refractory epilepsy group, t...

journal_title：Journal of child neurology

authors： Varlamis S,Vavatsi N,Pavlou E,Kotsis V,Spilioti M,Kavga M,Varlamis G,Sotiriadou F,Agakidou E,Voutoufianakis S,Evangeliou AE

更新日期：2013-11-01 00:00:00

abstract：:The currently available scales for quantitative measurement of the severity of childhood dystonia require human observer ratings and provide poor granularity in the scores for individual limbs. We evaluated the use of new-generation high-quality touchscreens (an iPad) according with the Fitts law, which is a mathemati...

journal_title：Journal of child neurology

authors： Bertucco M,Sanger TD

更新日期：2014-11-01 00:00:00

abstract：:Fifty-three (5%) of 1064 consecutively imaged children showed an arterial vascular pattern on magnetic resonance images, accounting for 12% of all abnormal studies. Signal abnormalities on T2-weighted scans persisted years after the clinical stroke occurrence. Ipsilateral atrophy of the pons or midbrain was found in 2...

journal_title：Journal of child neurology

authors： Smith CD,Baumann RJ

更新日期：1991-07-01 00:00:00

abstract：:We reviewed cranial sonographic studies done on 108 normal newborn infants to determine the prevalence and variability in size of the cavum septi pellucidi (CSP). Infants were classified according to gestational age by 2-week intervals. At 24 weeks, only four normal scans were identified. Between 26 and 34 weeks, ten ...

journal_title：Journal of child neurology

authors： Mott SH,Bodensteiner JB,Allan WC

更新日期：1992-01-01 00:00:00