Treatment of inherited neurometabolic diseases: the future.

abstract：:Making an accurate diagnosis is the first and most critical step in the treatment of pediatric epilepsy, but it can be a daunting challenge for clinicians. Seizure types and syndromes in infants and very young children do not present with the same clarity and consistency as in adults. Work is currently being done to r...

journal_title：Journal of child neurology

authors： Nordli DR Jr

更新日期：2002-01-01 00:00:00

abstract：:Spongy degeneration of the central nervous system in infancy (Van Bogaert-Bertrand disease) is a disorder usually thought to occur in Ashkenazi Jewish infants. We report a case occurring in an Arab infant of consanguineous parents. ...

journal_title：Journal of child neurology

authors： Mahdi AH,Elidirssy AT,Wright EA

更新日期：1986-01-01 00:00:00

abstract：:There are limited data on the pattern and prevalence of pediatric chronic neurologic conditions in the region. Therefore, the objective of this study was to establish the prevalence of these disorders in the Kingdom of Saudi Arabia. A multistage probability sampling design was used to select a random sample of Saudi h...

journal_title：Journal of child neurology

authors： Al Salloum AA,El Mouzan MI,Al Omar AA,Al Herbish AS,Qurashi MM

更新日期：2011-01-01 00:00:00

abstract：:Homocystinuria represents a group of hereditary metabolic disorders characterized by an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. The infantile form is severe: the main clinical findings are neurologic signs, associated with hematological signs and bone alterati...

journal_title：Journal of child neurology

authors： Cerbo RM,Cabano R,Lombardi G,Bollani L,Colombo R,Stronati M

更新日期：2010-03-01 00:00:00

abstract：:Subacute sclerosing panencephalitis is an almost universally fatal late complication of measles infection for which there is no established treatment. We report a patient with subacute sclerosing panencephalitis who was bed-bound and ataxic and had a left hemiparesis and frequent myoclonus. He was started on a new reg...

journal_title：Journal of child neurology

authors： Solomon T,Hart CA,Vinjamuri S,Beeching NJ,Malucci C,Humphrey P

更新日期：2002-09-01 00:00:00

abstract：:We report our experience in a cohort of patients with hyperphenylalaninemia in a tertiary care referral center in Lebanon. Forty-one sequential patients were studied: 34 classical phenylketonuria (PKU), 3 hyperphenylalaninemia (non-PKU), and 4 biopterin metabolism defects. The majority of cases were clinically diagnos...

journal_title：Journal of child neurology

authors： Karam PE,Daher RT,Moller LB,Mikati MA

更新日期：2011-02-01 00:00:00

abstract：:Advances in intraoperative neuroelectrodiagnostic testing and microneurosurgical techniques have made it possible to accurately explore the brachial plexus of neonates. Since 1987, we have followed 250 infants with birth-related brachial plexus injuries, and successful operations have been completed on more than 70 in...

journal_title：Journal of child neurology

authors： Laurent JP,Lee RT

更新日期：1994-04-01 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：:This report describes the brain autopsy of a boy who at age 4(1/2) years experienced an episode of fulminant Haemophilus influenzae type b bacterial meningitis, resulting in massive brain destruction and the clinical signs of brain death. However, medical intervention maintained him for an additional two decades. Subs...

journal_title：Journal of child neurology

authors： Repertinger S,Fitzgibbons WP,Omojola MF,Brumback RA

更新日期：2006-07-01 00:00:00

abstract：:This article assessed how Indian providers and mothers value quality of life in pediatric disabilities, hypothesizing lower values with increasing disability, lower values among providers than mothers, and lower values among mothers with versus mothers without a disabled child. We asked 175 participants: "If born tomo...

journal_title：Journal of child neurology

authors： Spiegel E,Jondhale S,Brajkovic I,Nesbit KC,Allen IE,Bhutani V,Kumar P,Partridge JC

更新日期：2018-08-01 00:00:00

abstract：:A nondescribed behavioral disorder was observed during wake-sleep transitions in 2 young children. Two boys had episodes of abnormal behavior in hypnagogic-and occasionally hypnopompic-periods for 1 year from the time they were 1 year and several months old. The episodes consisted of irregular body movements, which co...

journal_title：Journal of child neurology

authors： Pareja JA,Cuadrado ML,García-Morales I,Gil-Nagel A,Franch O

更新日期：2008-08-01 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：: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：:To describe the spectrum and associated clinical features of peripheral and cerebral vasculopathy in pediatric patients with neurofibromatosis type 1, children seen at a single center from 2000 to 2010 with appropriate imaging studies were identified. Scans were assessed for vascular disease by 2 pediatric neuroradiol...

journal_title：Journal of child neurology

authors： Kaas B,Huisman TA,Tekes A,Bergner A,Blakeley JO,Jordan LC

更新日期：2013-05-01 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：:Generalized edema can occur during the course of juvenile dermatomyositis. In this article, a 4-year-old boy with generalized nonpitting edema and proximal weakness is reported. Characteristic cutaneous lesions, laboratory tests, results of electromyography, and magnetic resonance imaging findings resulted in a diagno...

journal_title：Journal of child neurology

authors： Saygi S,Alehan F,Baskin E,Bayrakci US,Ulu EM,Ozbek N

更新日期：2008-11-01 00:00:00

abstract：:Respiratory syncytial virus is a common cause of acute respiratory infection in children. Previous reports have associated respiratory syncytial virus infection and acute neurologic symptoms, including apnea and seizures. This study examined the prevalence of acute neurologic symptoms associated with respiratory syncy...

journal_title：Journal of child neurology

authors： Kho N,Kerrigan JF,Tong T,Browne R,Knilans J

更新日期：2004-11-01 00:00:00

abstract：:Our experience with two children with Joubert syndrome demonstrates how the diagnosis, if suspected by recognition of the behavioral phenotype, can rapidly be made by employing cranial sonography. This technique also may afford prenatal diagnosis of the syndrome in future siblings of confirmed cases. We have produced ...

journal_title：Journal of child neurology

authors： Edwards BO Jr,Fischer AQ,Flannery DB

更新日期：1988-10-01 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：:Three normal children with headache occurring only with exertion were advised to try "head cooling" (eg, immersion of the head in cold water, cold water poured over the head, application of a cold, wet towel or ice pack) at the onset of headache. The patients were followed up quarterly as outpatients, and the effectiv...

journal_title：Journal of child neurology

authors： Singh RK,Martinez A,Baxter P

更新日期：2006-12-01 00:00:00

abstract：:Anti-N-methyl-D-aspartate (NMDA) receptor encephalitis is characterized by acute- or subacute-onset encephalopathy with extrapyramidal, psychiatric, and epileptic manifestations. Diagnosis is confirmed by positive antibodies to NMDA receptor in cerebrospinal fluid and serum. Eleven pediatric cases presented over a 2-y...

journal_title：Journal of child neurology

authors： Chakrabarty B,Tripathi M,Gulati S,Yoganathan S,Pandit AK,Sinha A,Rathi BS

更新日期：2014-11-01 00:00:00

abstract：:Isolated sulfite oxidase deficiency is a rare autosomal recessive disorder of the newborn that can be mistaken for neonatal asphyxia. Diffusion-weighted imaging of the brain demonstrates widespread diffusion restriction, and proton magnetic resonance spectroscopy shows an elevated lactate level, a decrease in the rati...

journal_title：Journal of child neurology

authors： Eichler F,Tan WH,Shih VE,Grant PE,Krishnamoorthy K

更新日期：2006-09-01 00:00:00

abstract：:We report a divergent ependymal tumor of the posterior fossa (ependymoblastoma/anaplastic ependymoma) observed in an 8-year-old boy. The tumor showed the histological pattern typical of an ependymoblastoma (tubular-papillary fetaloid architecture with stratification of the tumor cells) next to areas in which findings ...

journal_title：Journal of child neurology

authors： Ortiz J,Otero A,Bengoechea O,Gonçalves J,Sousa P,Figols J,Bullón A

更新日期：2008-09-01 00:00:00

abstract：:Rett syndrome is a neurodevelopmental disorder predominately affecting females. The majority of patients have epilepsy in the early stages of the disease. This study evaluates the clinical course of epilepsy and the effect of antiepileptic drug treatment in Rett syndrome using retrospective data analysis. Epilepsy was...

journal_title：Journal of child neurology

authors： Krajnc N,Župančič N,Oražem J

更新日期：2011-11-01 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 goal of this study was to collect prospective longitudinal information on the development of an epidemiologically defined cohort of patients with Tourette syndrome. These data may improve prognostic understanding of the condition. This information will also be important for specification of an adult phenotype for ...

journal_title：Journal of child neurology

authors： Burd L,Kerbeshian PJ,Barth A,Klug MG,Avery PK,Benz B

更新日期：2001-06-01 00:00:00

abstract：:Using quantitative magnetic resonance imaging morphometry, we report that the whole brain volumes of patients with neurofibromatosis-1 are significantly larger than normal, confirm the prevalence of macrocephaly as about 50%, and report that macrocephaly in patients with neurofibromatosis-1 does not appear to be relat...

journal_title：Journal of child neurology

authors： Cutting LE,Koth CW,Burnette CP,Abrams MT,Kaufmann WE,Denckla MB

更新日期：2000-03-01 00:00:00

abstract：:Smith-Magenis syndrome is a multiple congenital anomalies/mental retardation syndrome associated with a heterozygous deletion of chromosome 17p11.2. Seizures have not been formally studied in this population. Our objectives were to estimate the prevalence of seizures and electroencephalographic (EEG) epileptiform abno...

journal_title：Journal of child neurology

authors： Goldman AM,Potocki L,Walz K,Lynch JK,Glaze DG,Lupski JR,Noebels JL

更新日期：2006-02-01 00:00:00

abstract：:Neuron-specific enolase, a marker for neuronal injury, is elevated following seizures in adults, but relatively few data exist on postictal neuron-specific enolase levels in children. This study measured cerebrospinal fluid (CSF) neuron-specific enolase levels after seizures in 49 consecutive pediatric patients and in...

journal_title：Journal of child neurology

authors： Wong M,Ess K,Landt M

更新日期：2002-04-01 00:00:00

abstract：:The ketogenic diet has traditionally been considered an anticonvulsant therapy of last resort, despite excellent efficacy and limited side effects. We hypothesized that the ketogenic diet would have similar results in patients with new-onset epilepsy. A retrospective study was conducted of patients started on the keto...

journal_title：Journal of child neurology

authors： Rubenstein JE,Kossoff EH,Pyzik PL,Vining EP,McGrogan JR,Freeman JM

更新日期：2005-01-01 00:00:00