Macrocephaly-capillary malformation syndrome in a newborn with tetralogy of fallot and sagittal sinus thrombosis.

abstract：:Rett Syndrome is known to occur in females, around the second year, with loss of hand use, onset of stereotypes and acquired microcephaly. Such regression is often very rapid, but this has never been documented. In one of our patients, photographs taken at different times clearly demonstrate the rapid progression of f...

journal_title：Journal of child neurology

authors： Fiumara A,Barone R,D'Asero G,Marzullo E,Pavone L

更新日期：1999-08-01 00:00:00

abstract：:Baclofen is widely used to control spasticity in children with cerebral palsy. Several publications described clinical adverse effects of baclofen oral treatment, but the effect of baclofen on seizure potentiation is still controversial. We describe a 10-year-old female patient with cerebral palsy, epilepsy, and menta...

journal_title：Journal of child neurology

authors： De Rinaldis M,Losito L,Gennaro L,Trabacca A

更新日期：2010-10-01 00:00:00

abstract：:The authors describe a pediatric patient with repaired hypoplastic left heart syndrome developing protein-losing enteropathy, hypocalcemia, vitamin D deficiency, and hemichorea. After correction of nutritional vitamin D deficiency with calcium and vitamin D supplementation, the chorea resolved. Hypoalbuminemia also im...

journal_title：Journal of child neurology

authors： Fernandez R,Ashraf A,Dure LS

更新日期：2007-01-01 00:00:00

abstract：:This study presents a large multicenter cohort of children with cerebral venous thrombosis from 5 centers in the United States and analyzes their clinical findings and risk factors. Seventy patients were included in the study (25 neonates, 35%). The age ranged from 6 days to 12 years. Thirty-eight (55%) were younger t...

journal_title：Journal of child neurology

authors： Wasay M,Dai AI,Ansari M,Shaikh Z,Roach ES

更新日期：2008-01-01 00:00:00

abstract：:The clinical label attention deficit hyperactivity disorder (ADHD) suggests that this syndrome is a disorder of attention. However, the presumed attentional deficits have not been linked either to specific cognitive operations or to specific neural systems. To provide this link, theories of the cognitive anatomy of at...

journal_title：Journal of child neurology

authors： Swanson JM,Posner M,Potkin S,Bonforte S,Youpa D,Fiore C,Cantwell D,Crinella F

更新日期：1991-01-01 00:00:00

abstract：:The clinical and laboratory data of four pediatric patients and one adult patient with inverted duplication (inv dup) (15) are reported. The most evident findings were dysmorphic features with frontal bossing; genital abnormalities, such as macropenis or hypospadias; mental retardation; autistic behavior; and seizures...

journal_title：Journal of child neurology

authors： Buoni S,Sorrentino L,Farnetani MA,Pucci L,Fois A

更新日期：2000-06-01 00:00:00

abstract：:The use of corticosteroids for treatment of Duchenne and Becker muscular dystrophy in clinical practice from 1991 through 2005 was reviewed in a large population-based cohort (MD STARnet) of boys in 4 regional sites and 6 clinics of the United States. Corticosteroid use increased from 20% (11 of 56 individuals) in 199...

journal_title：Journal of child neurology

authors： Matthews DJ,James KA,Miller LA,Pandya S,Campbell KA,Ciafaloni E,Mathews KD,Miller TM,Cunniff C,Meaney FJ,Druschel CM,Romitti PA,Fox DJ,MD STARnet.

更新日期：2010-11-01 00:00:00

abstract：:Neurofibromatosis 1 is an autosomal dominant, multisystem disorder with myriad clinical manifestations. Between 1991 and 1998, 495 adults and children were diagnosed with neurofibromatosis 1 at a specialized neurogenetics clinic in Sydney, Australia. This review establishes the prevalence of the clinical manifestation...

journal_title：Journal of child neurology

authors： Young H,Hyman S,North K

更新日期：2002-08-01 00:00:00

abstract：:Executive dysfunction occurs in sickle cell anemia, but there are few early data. Infants with sickle cell anemia (n = 14) and controls (n = 14) performed the "A-not-B" and Object Retrieval search tasks, measuring precursors of executive function at 9 and 12 months. Significant group differences were not found. Howeve...

journal_title：Journal of child neurology

authors： Hogan AM,Telfer PT,Kirkham FJ,de Haan M

更新日期：2013-10-01 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：:Opsoclonus-myoclonus syndrome is characterized by abnormal lymphocyte trafficking into brain. The authors hypothesized that mycophenolate mofetil, a lymphocyte proliferation inhibitor, might be therapeutic. The cerebrospinal fluid and blood immunophenotypes of 15 children with predominantly chronic-relapsing opsoclonu...

journal_title：Journal of child neurology

authors： Pranzatelli MR,Tate ED,Travelstead AL,Baumgardner CA,Gowda NV,Halthore SN,Kerstan P,Kossak BD,Mitchell WG,Taub JW

更新日期：2009-03-01 00:00:00

abstract：:Neuronal ceroid lipofuscinosis is a hereditary disease, and ceroid-lipofuscinosis neuronal protein 5 (CLN5) has been proved to be associated with neuronal ceroid lipofuscinosis. Here we report 3 patients from 2 families diagnosed with CLN5 neuronal ceroid lipofuscinosis. Whole genome sequencing of DNAs from 3 patients...

journal_title：Journal of child neurology

authors： Ge L,Li HY,Hai Y,Min L,Xing L,Min J,Shu HX,Mei OY,Hua L

更新日期：2018-11-01 00:00:00

abstract：:Mutations in MECP2 gene are the primary cause of Rett syndrome, a neurodevelopmental disorder that primarily affects girls, and affect 90% to 95% patients with classical Rett syndrome. MECP2 mutations, once thought to be lethal in males, now present a broad spectrum of clinical manifestations in males. This article re...

journal_title：Journal of child neurology

authors： Khajuria R,Gupta N,Sapra S,Gulati S,Ghosh M,Kalra V,Kabra M

更新日期：2011-02-01 00:00:00

abstract：:Vigabatrin has been studied in adult drug-resistant epilepsy since 1982 in single-blind and double-blind studies followed by long-term, open evaluations. These studies have provided evidence that vigabatrin is a potent and well-tolerated antiepileptic drug and support its potential value in pediatric epilepsy. The lac...

journal_title：Journal of child neurology

authors： Dam M

更新日期：1991-01-01 00:00:00

abstract：:If behavior results from brain function, some evidence of dysfunction could be expected in children with major behavioral problems. Yet, neurophysiologic studies in these children are frequently normal. We hypothesized a relationship between maturational asymmetry and behavior, given the role of hemispheric imbalance ...

journal_title：Journal of child neurology

authors： Gerez M,Tello A,Serrano C,Ibarra R,Mallet A

更新日期：1999-02-01 00:00:00

abstract：:The purpose of this study was to determine the locations and characterize the types of brain abnormalities noted on brain magnetic resonance imaging in patients with probable and definite neurofibromatosis type 1. Patients with definite neurofibromatosis type 1 (n = 17) were studied when clinically indicated, and pati...

journal_title：Journal of child neurology

authors： DiMario FJ Jr,Ramsby G,Greenstein R,Langshur S,Dunham B

更新日期：1993-01-01 00:00:00

abstract：:We describe the brain magnetic resonance imaging (MRI) findings in eight neonates with tuberous sclerosis complex to further delineate the spectrum of characteristic findings in these patients. In addition to the previously described characteristic brain MRI findings in neonates, which included cortical tuber, transma...

journal_title：Journal of child neurology

authors： Arca G,Pacheco E,Alfonso I,Duchowny MS,Melnick SJ

更新日期：2006-04-01 00:00:00

abstract：:A suppository for rectal administration of carbamazepine has been developed for situations in which it is unsuitable to use the oral route of administration. In an open, controlled, within-patient study, the pharmacokinetics, clinical efficacy, and tolerability of carbamazepine slow-release tablets were compared with ...

journal_title：Journal of child neurology

authors： Arvidsson J,Nilsson HL,Sandstedt P,Steinwall G,Tonnby B,Flesch G

更新日期：1995-03-01 00:00:00

abstract：:The potential benefits of functional magnetic resonance imaging (MRI) for the investigation of normal development have been limited by difficulties in its use with children. We describe the practical aspects, including failure rates, involved in conducting large-scale functional MRI studies with normal children. Two h...

journal_title：Journal of child neurology

authors： Byars AW,Holland SK,Strawsburg RH,Bommer W,Dunn RS,Schmithorst VJ,Plante E

更新日期：2002-12-01 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：: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：:Despite the recent development of new antiepilepsy drugs, a significant number of children are still unable to achieve seizure freedom without side effects. Understanding the factors behind individual variability in antiepilepsy drug tolerability and dose response and incorporating these factors into a treatment plan ...

journal_title：Journal of child neurology

authors： Glauser TA

更新日期：2002-01-01 00:00:00

abstract：:Acute disseminated encephalomyelitis in children is not uncommon in developing countries, yet there is little systematic documentation of its clinical profile and follow-up. We studied the clinical and neuroradiologic features of acute disseminated encephalomyelitis in 52 consecutive children. Clinical details, magnet...

journal_title：Journal of child neurology

authors： Singhi PD,Ray M,Singhi S,Kumar Khandelwal N

更新日期：2006-10-01 00:00:00

abstract：:Two children are described who suddenly developed an encephalitic illness with intractable bilateral facial seizures. The seizures subsided over several days, but the children were left with the signs of pseudobulbar palsy and are unable to speak or swallow effectively. Bilateral destructive lesions in the opercular r...

journal_title：Journal of child neurology

authors： Grattan-Smith PJ,Hopkins IJ,Shield LK,Boldt DW

更新日期：1989-04-01 00:00:00

abstract：:Outcome measures should include the patient's values and preferences (from the patient's perspective) in addition to performance ratings and physiologic states. Outcome measures can assess relationships between services and interventions and their end results, can clarify which therapies are worth providing and which ...

journal_title：Journal of child neurology

authors： Ronen GM,Rosenbaum MP,Streiner DL

更新日期：2000-12-01 00:00:00

abstract：:Minimal evidence exists about the risk of recurrent childhood acute ischemic stroke in patients subjected to a subsequent head or neck injury. Recurrent or multiple dissections have been demonstrated in select cases. Minor head trauma has also been associated with acute ischemic stroke. The objective of this study was...

journal_title：Journal of child neurology

authors： Bernard TJ,deVeber GA,Benke TA

更新日期：2007-08-01 00:00:00

abstract：:Neurocysticercosis is a common parasitic infection of the central nervous system. Intraparenchymal giant cysticercosis has been described in literature, but this is a rare report of a thalamic giant cysticercosis in a young child where the diagnosis could be made on follow-up. A 1½-year-old male child presented with s...

journal_title：Journal of child neurology

authors： Mittal A,Sehgal R,Sureka B,Kumar A,Aggarwal KC

更新日期：2014-11-01 00:00:00

abstract：BACKGROUND:Moyamoya disease is a rare cerebrovascular disease characterized by progressive stenosis of the bilateral distal internal carotid arteries and their proximal branches. Both chorea and dystonia have been reported as the initial presentation of moyamoya disease. OBJECTIVE:The objective was to define the clini...

journal_title：Journal of child neurology

authors： Greene S,Bansal L,Coffman KA,Nardone R,Zuccoli G

更新日期：2016-04-01 00:00:00

abstract：:A patient who has been declared brain dead is considered to be both legally and clinically dead. However, we report 2 pediatric cases in which the patients demonstrated clinical signs of brain stem function that are not recognized or tested in current Canadian or US guidelines. ...

journal_title：Journal of child neurology

authors： Hansen G,Joffe AR

更新日期：2017-06-01 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