Spectrum and prevalence of vasculopathy in pediatric neurofibromatosis type 1.

abstract：:Paramyotonia congenita in 22 members of Arab (Omani) family is reported. Four generations were affected. All had early onset around 1 year of age, with myotonia and cold intolerance. Age of onset in the index case was at 3 months of age. Six members with the disease were examined and investigated. To our knowledge, th...

journal_title：Journal of child neurology

authors： Koul R,Alfutaisi A,Hira M

更新日期：2010-02-01 00:00:00

abstract：:Duchenne muscular dystrophy results in a broad spectrum of physical and psychosocial consequences, both to patient and caregivers. This study was aimed to explore health-related quality of life and its possible determinants in Duchenne muscular dystrophy children and in their parents. Caregivers (21 mothers and 6 fath...

journal_title：Journal of child neurology

authors： Baiardini I,Minetti C,Bonifacino S,Porcu A,Klersy C,Petralia P,Balestracci S,Tarchino F,Parodi S,Canonica GW,Braido F

更新日期：2011-06-01 00:00:00

abstract：:A child suffered from herpes simplex virus encephalitis at the age of 6 months; a late relapse occurred 8.5 years after the initial episode, the longest latency period reported. Radiologic and autopsy findings suggest local reactivation of latent herpes simplex virus as the cause of relapse. All cases of late relapse ...

journal_title：Journal of child neurology

authors： Spiegel R,Miron D,Yodko H,Lumelsky D,Habib A,Horovitz Y

更新日期：2008-03-01 00:00:00

abstract：:We reviewed the data from 215 consecutively imaged children who were referred because of neurologic disease. We specifically looked for evidence of cerebral arterial infarction in the form of focal brain damage in an arterial vascular distribution. Twenty-eight showed an arterial infarction pattern. All the major cere...

journal_title：Journal of child neurology

authors： Baumann RJ,Carr WA,Shuman RM

更新日期：1987-10-01 00:00:00

abstract：:Actinopathies are defined by missense mutations in the ACTA1 gene coding for sarcomeric actin, of which some 70 families have, so far, been identified. Often, but not always, muscle fibers carry large patches of actin filaments. Many such patients also have nemaline myopathy, qualifying actinopathies as a subgroup of ...

journal_title：Journal of child neurology

authors： Goebel HH,Brockmann K,Bönnemann CG,Warlo IA,Hanefeld F,Labeit S,Durling HJ,Laing NG

更新日期：2004-02-01 00:00:00

abstract：:The objective of this study is to determine the long-term outcome of children with intractable epilepsy who have diffuse cortical hypometabolism on 2-deoxy-2-((18)F)fluoro-D-glucose positron emission tomography (FDG-PET) scans. Seventeen children with intractable epilepsy showing bilateral, diffuse cortical hypometabo...

journal_title：Journal of child neurology

authors： Shandal V,Veenstra AL,Behen M,Sundaram S,Chugani H

更新日期：2012-01-01 00:00:00

abstract：:The aim of this study was to investigate the alteration of the gait pattern in 25 children with Duchenne muscular dystrophy, using body-worn inertial sensors during a long walking distance. Normalized spatiotemporal gait parameters and their variability were extracted from the angular velocity of the shanks; the smoot...

journal_title：Journal of child neurology

authors： Ganea R,Jeannet PY,Paraschiv-Ionescu A,Goemans NM,Piot C,Van den Hauwe M,Aminian K

更新日期：2012-01-01 00:00:00

abstract：:Diagnostic ultrasound has been extensively used for neurologic evaluation of cranial, vascular and spinal diseases. This study presents the techniques, methodology, and procedures for a new diagnostic application of ultrasound for evaluation of the neuromuscular system. In order to determine the optimum sonographic ch...

journal_title：Journal of child neurology

authors： Fischer AQ,Stephens S

更新日期：1988-01-01 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：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：:This study aimed to identify the indications in which electroencephalography in the pediatric emergency department is most useful. We retrospectively reviewed the influence that the results of the emergent electroencephalogram had on the eventual disposition of patients at our pediatric emergency department. Sixty-eig...

journal_title：Journal of child neurology

authors： Fernández IS,Loddenkemper T,Datta A,Kothare S,Riviello JJ Jr,Rotenberg A

更新日期：2014-04-01 00:00:00

abstract：:Neural tube defects are common birth defects, the frequency of which appears to be reduced by maternal supplementation and/or fortification of folic acid. Latin Americans have a high incidence of neural tube defects. We surveyed the dietary intake of Honduran women of childbearing age using a 24-hour dietary recall qu...

journal_title：Journal of child neurology

authors： Holden KR,Collins JS,Greene JF,Hinkle S,Nave AF,Portillo JM,Page GP,Stevenson RE,Honduran Neural Tube Defect Project Team.

更新日期：2002-05-01 00:00:00

abstract：:Past, present, and future research activities in Rett syndrome are described. Studies to this point have failed to define a biologic or chemical marker. It is hoped that heightened activity in this unique syndrome will provide guidance for the diagnosis of this disorder, and with it, better understanding. ...

journal_title：Journal of child neurology

authors： Percy AK

更新日期：1988-01-01 00:00:00

abstract：:Cardiomyopathy is a leading cause of death in patients with Duchenne muscular dystrophy. Congestive heart failure is often sub-clinical and unrecognized as a result of the severe physical limitations of this patient population. We report the case of a 16-year-old boy with Duchenne muscular dystrophy who demonstrated n...

journal_title：Journal of child neurology

authors： Wong BL,Mukkada VA,Markham LW,Cripe LH

更新日期：2005-03-01 00:00:00

abstract：:The cerebellum undergoes a protracted development, making it particularly vulnerable to a broad spectrum of developmental events. Acquired destructive and hemorrhagic insults may also occur. The main steps of cerebellar development are reviewed. The normal imaging patterns of the cerebellum in prenatal ultrasound and ...

journal_title：Journal of child neurology

authors： Garel C,Fallet-Bianco C,Guibaud L

更新日期：2011-12-01 00:00:00

abstract：:Fumarase deficiency is a very rare inborn error of metabolism caused by decreased activity of fumarate hydratase enzyme. We describe a fumarase-deficient infant who presented with encephalopathy, metabolic crisis, psychomotor retardation, hypotonia, seizures, and facial dysmorphism. To our knowledge, this is the first...

journal_title：Journal of child neurology

authors： Saini AG,Singhi P

更新日期：2013-04-01 00:00:00

abstract：:Isolated paraventricular frontal horn cysts are sometimes encountered on cranial ultrasound examinations of preterm neonates. The etiology and clinical significance of these lesions are unclear. The authors aimed to identify antenatal/intrapartum risk factors associated with the occurrence of these cysts and to assess...

journal_title：Journal of child neurology

authors： Trawber R,Rao S,Srinivasjois R,Thonell S,Nagarajan L,French N,Jacoby P,McMichael J

更新日期：2010-11-01 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：:This is a case report of an otherwise healthy 2-year-old boy with a history of pica, associated with iron deficiency anemia. This boy was referred to our department for a neurologic evaluation because of an acute episode of sialorrhea, difficulty in speaking, dysphagia, and repeated swallowing movements. An uncertain ...

journal_title：Journal of child neurology

authors： Mihailidou H,Galanakis E,Paspalaki P,Borgia P,Mantzouranis E

更新日期：2002-11-01 00:00:00

abstract：:We analyzed, retrospectively, 92 patients with headache to determine the changes in the order of frequency of causes with the development of neuroimaging studies and its efficacy in the investigation of patients with headache. The type of headache was redefined according to the International Headache Society (IHS) dia...

journal_title：Journal of child neurology

authors： Aysun S,Yetük M

更新日期：1998-05-01 00:00:00

abstract：:Clinical manifestations were retrospectively assessed in 5 families with tuberous sclerosis complex, including 1 pair of monozygotic twins. Interfamilial variation in tuber count was significantly larger than intrafamilial variation. Severity of epilepsy and cognitive profiles varied both between and within families, ...

journal_title：Journal of child neurology

authors： Lyczkowski DA,Conant KD,Pulsifer MB,Jarrett DY,Grant PE,Kwiatkowski DJ,Thiele EA

更新日期：2007-12-01 00:00:00

abstract：:Spinal muscular atrophy is one of the most heterogeneous of the single-gene neuromuscular disorders. The broad spectrum of severity, with onset from the prenatal period to adulthood, presents unique challenges in the design and implementation of clinical trials. The clinical classification of subjects into severe (typ...

journal_title：Journal of child neurology

authors： Swoboda KJ,Kissel JT,Crawford TO,Bromberg MB,Acsadi G,D'Anjou G,Krosschell KJ,Reyna SP,Schroth MK,Scott CB,Simard LR

更新日期：2007-08-01 00:00:00

abstract：:We present 12 cases of males with myalgia and cramps and a normal muscle strength examination. All the patients had muscle dystrophin values consistent with Becker muscular dystrophy. Five of the patients had a normal electromyogram, and five had normal light microscopic muscle biopsy results. Of particular note, four...

journal_title：Journal of child neurology

authors： Samaha FJ,Quinlan JG

更新日期：1996-01-01 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：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：: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 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：: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：:Brain abscesses are uncommon in neonates. Klebsiella pneumoniae is a very uncommon microbial agent to cause brain abscess. We report 2 infants with Klebsiella pneumoniae sepsis who developed brain abscesses. One infant was a premature neonate who required mechanical ventilation for respiratory distress syndrome and su...

journal_title：Journal of child neurology

authors： Sundaram V,Agrawal S,Chacham S,Mukhopadhyay K,Dutta S,Kumar P

更新日期：2010-03-01 00:00:00