Intermediate maple syrup urine disease: neuroimaging observations in 3 patients from South India.

abstract：:The goal of this project was to promote bicycle helmet use via an inpatient educational program. We hypothesized that this program would increase bicycle helmet use. One hundred twenty inpatients with history of regular (>1 time per week) bicycle riding (mean age 10.0 ± 3.6 years; 67 males, 53 females; 57 whites, 59 b...

journal_title：Journal of child neurology

authors： Barnes VA,Maria BL,Caldwell AL,Hopkins I

更新日期：2013-11-01 00:00:00

abstract：:Intracranial tuberculoma in infants are a rare occurrence. We report a 7-month-old male infant presenting to our tertiary care referral center with complaints of global developmental delay and right hemiparesis for 3 months. Radiologic imaging was suggestive of large left frontoinsular space-occupying lesion with init...

journal_title：Journal of child neurology

authors： Raheja A,Sinha S,Sable MN,Sharma MC,Sharma BS

更新日期：2015-03-01 00:00:00

abstract：:Hypoxic-ischemic encephalopathy is an important cause of neuropsychological deficits. Little is known about brain diffusivity in these infants following cooling and its potential in predicting outcome. Diffusion tensor imaging was applied to 3 groups: (1) three infants with hypoxic-ischemic encephalopathy: cooled; (2)...

journal_title：Journal of child neurology

authors： Artzi M,Sira LB,Bassan H,Gross-Tsur V,Berger I,Marom R,Leitner Y,Bental Y,Shiff Y,Geva R,Weinstein M,Bashat DB

更新日期：2011-10-01 00:00:00

abstract：:Electrographic seizures are common in neonates with hypoxic-ischemic encephalopathy, but detailed data are not available regarding seizure incidence during therapeutic hypothermia. The objective of this prospective study was to determine the incidence and timing of electrographic seizures in term neonates undergoing w...

journal_title：Journal of child neurology

authors： Wusthoff CJ,Dlugos DJ,Gutierrez-Colina A,Wang A,Cook N,Donnelly M,Clancy R,Abend NS

更新日期：2011-06-01 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：:Pyridoxine dependency and congenital hypophosphatasia are unusual metabolic disorders. We report a female infant born from healthy consanguineous parents with shortening of limbs, detected during pregnancy by ultrasonography. Immediately after delivery, the baby was admitted to the neonatal intensive care unit because...

journal_title：Journal of child neurology

authors： Nunes ML,Mugnol F,Bica I,Fiori RM

更新日期：2002-03-01 00:00:00

abstract：:Growth failure is nearly universal in spinal muscular atrophy type 1 and common in type 2, although acuity is often underappreciated at initial diagnosis. We reviewed 44 consecutive spinal muscular atrophy patients (28 type 1, 16 type 2) under 3 years at initial presentation. Growth failure was conventionally defined:...

journal_title：Journal of child neurology

authors： Sproule DM,Hasnain R,Koenigsberger D,Montgomery M,De Vivo DC,Kaufmann P

更新日期：2012-07-01 00:00:00

abstract：:Seizures occur in 25% to 40% of children with supratentorial tumors and are the presenting complaint in 10% to 15%. However, when divided by age, only 2% of children with seizures as the presenting complaint of brain tumors were less than 1 year of age. Three children, ranging in age from 20 days to 7 months and seen ...

journal_title：Journal of child neurology

authors： Rutledge SL,Snead OC 3rd,Morawetz R,Chandra-Sekar B

更新日期：1987-07-01 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：OBJECTIVE:We performed a retrospective chart review of patients with trisomy 21 and infantile spasms in our university-based pediatric epilepsy center between 2002 and 2016 in order to describe the clinical characteristics of children with these diagnoses as well as to evaluate their response to first-line treatments. ...

journal_title：Journal of child neurology

authors： Armstrong D,Said RR

更新日期：2019-10-01 00:00:00

abstract：:The relationship between somatic growth and neurocognitive outcome was studied in a cohort of 136 children with intrauterine growth retardation. The children were followed up from birth to 9 to 10 years of age by annual measurements of growth parameters, neurodevelopmental evaluations, and IQ. The rate of catch-up for...

journal_title：Journal of child neurology

authors： Fattal-Valevski A,Toledano-Alhadef H,Leitner Y,Geva R,Eshel R,Harel S

更新日期：2009-07-01 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：:After obtaining familial informed consent, between January 1996 and July 1997, 173 children (5 to 15 years old) with sickle cell disease were enrolled in a prospective multicenter study using blood screening, transcranial Doppler ultrasonography (n = 143), cerebral magnetic resonance imaging (n = 144), and neuropsycho...

journal_title：Journal of child neurology

authors： Bernaudin F,Verlhac S,Fréard F,Roudot-Thoraval F,Benkerrou M,Thuret I,Mardini R,Vannier JP,Ploix E,Romero M,Cassé-Perrot C,Helly M,Gillard E,Sebag G,Kchouk H,Pracros JP,Finck B,Dacher JN,Ickowicz V,Raybaud C,Ponce

更新日期：2000-05-01 00:00:00

abstract：:Concussion is a known risk in youth soccer, but little is known about subconcussive head impacts. The authors provided a prospective cohort study measuring frequency and magnitude of subconcussive head impacts using accelerometry in a middle school-age soccer tournament, and association between head impacts and change...

journal_title：Journal of child neurology

authors： Chrisman SP,Mac Donald CL,Friedman S,Andre J,Rowhani-Rahbar A,Drescher S,Stein E,Holm M,Evans N,Poliakov AV,Ching RP,Schwien CC,Vavilala MS,Rivara FP

更新日期：2016-07-01 00:00:00

abstract：:Apneic neonatal seizures can present as apparent life-threatening events. We report a newborn with unexplained episodes of apnea associated with cyanosis and desaturation, starting on the first day postpartum. Biochemical tests were normal. Central nervous system infections as well as abnormalities of upper airways an...

journal_title：Journal of child neurology

authors： Khajeh L,Cherian PJ,Swarte RM,Smit LS,Lequin MH

更新日期：2014-07-01 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：:Idiopathic dystonia with onset in the first year of life has been described as a transient movement disorder, in contrast to other forms of idiopathic dystonia We report on a girl who showed, from her 5th month, episodes of dystonic postures of her neck and arm, which lasted for seconds and occurred several times a da...

journal_title：Journal of child neurology

authors： John B,Klemm E,Haverkamp F

更新日期：2000-12-01 00:00:00

abstract：:The spectrum of clinical disease in juvenile Huntington's disease differs from that seen in adults. Younger patients often present with seizures, dystonia and rigidity. The mechanism and type of seizures, timing of onset and electrographic features have not been well characterized in either adults or children. We desc...

journal_title：Journal of child neurology

authors： Ullrich NJ,Riviello JJ Jr,Darras BT,Donner EJ

更新日期：2004-07-01 00:00:00

abstract：:The most devastating complications of tuberous sclerosis complex affect the central nervous system and include epilepsy, mental retardation, autism, and glial tumors. Mutations in one of two genes, TSC1 and TSC2, result in a similar disease phenotype by disrupting the normal interaction of their protein products, hama...

journal_title：Journal of child neurology

authors： Scheidenhelm DK,Gutmann DH

更新日期：2004-09-01 00:00:00

abstract：:Pediatric headache patients often experience significant sleep disturbance, which may be a risk factor for poor physical, academic, and emotional functioning, including increased anxiety/fear. The current retrospective cohort study of a clinical sample of youth with persistent headache aimed to examine the impact of s...

journal_title：Journal of child neurology

authors： Clementi MA,Chang YH,Gambhir R,Lebel A,Logan DE

更新日期：2020-03-01 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：:Duchenne and Becker muscular dystrophy are allelic X-linked disorders causing progressive muscle weakness in males. Duchenne muscular dystrophy is caused by absence of dystrophin in muscle and brain; boys with Duchenne muscular dystrophy have a static cognitive impairment with mean Full Scale IQ approximately 1 standa...

journal_title：Journal of child neurology

authors： Young HK,Barton BA,Waisbren S,Portales Dale L,Ryan MM,Webster RI,North KN

更新日期：2008-02-01 00:00:00

abstract：:Pelizaeus-Merzbacher disease and X-linked spastic paraplegia type 2 are two sides of the same coin. Both arise from mutations in the gene encoding myelin proteolipid protein. The disease spectrum for Pelizaeus-Merzbacher disease and spastic paraplegia type 2 is extraordinarily broad, ranging from a spastic gait in the...

journal_title：Journal of child neurology

authors： Hudson LD

更新日期：2003-09-01 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：:Familial hemophagocytic lymphohistiocytosis is an inherited deficiency of natural killer cell function and excessive cytokine activity, which predominantly presents in early childhood. The initial symptoms of familial hemophagocytic lymphohistiocytosis are often nonspecific but may be predominantly neurologic. The cas...

journal_title：Journal of child neurology

authors： Turtzo LC,Lin DD,Hartung H,Barker PB,Arceci R,Yohay K

更新日期：2007-07-01 00:00:00

abstract：:An infant newly diagnosed with propionic acidemic coma was managed successfully with total parenteral nutrition (TPN) and continuous infusion of insulin. The urinary excretion of 3-hydroxypropionic acid was reduced to 3% of the admission value in 4 days, gradually decreasing to 1.5% in 16 days. The treatment did not p...

journal_title：Journal of child neurology

authors： Kalloghlian A,Gleispach H,Ozand PT

更新日期：1992-04-01 00:00:00

abstract：OBJECTIVE:To analyze the available literature on papilledema in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), report the first detailed pediatric case, and explore the underlying pathophysiology. METHODS:First, we conducted a comprehensive literature review of all cases of papilledema in CIDP. Next...

journal_title：Journal of child neurology

authors： Abrams AW,Sah JP,Pavlakis SG

更新日期：2020-09-01 00:00:00

abstract：:A behavior questionnaire was used retrospectively in 21 manic-depressive children to quantitate manic-depressive behaviors before and after treatment with lithium carbonate. The study children were matched with 21 control children for age, race, sex, and socioeconomic status. The study children had significantly more ...

journal_title：Journal of child neurology

authors： Younes RP,DeLong GR,Neiman G,Rosner B

更新日期：1986-10-01 00:00:00

abstract：BACKGROUND:We developed and validated a Spanish seizure screen for children based on a previously validated English seizure screen that could be administered by a trained research assistant in a 2-step process, approximating the clinical diagnostic process of a pediatric epilepsy specialist. This questionnaire was desi...

journal_title：Journal of child neurology

authors： Torres AR,Camayd-Muñoz C,Alvarado MC,Perez B,Pou J,Hereen T,Jonas R,Douglass LM

更新日期：2020-12-18 00:00:00

abstract：:Erythromelalgia is a rare condition characterized by episodic painful erythema and warmth often affecting, but not limited to, the distal extremities. This condition is notoriously difficult to treat. We report a young female patient with seronegative polyarthritis who presented with a 6-year history of recurrent bout...

journal_title：Journal of child neurology

authors： Moody S,Pacheco S,Butler IJ,Koenig MK

更新日期：2012-07-01 00:00:00