Outcome measures in pediatric neurology: why do we need them?

abstract：:Cortical dysplasia is now recognized as one of the major etiologies causing intractable epilepsy in childhood. Dysplastic cortex displays cortical dyslamination, which is often associated with dysmorphic large neurons and less frequently with balloon cells. The dysmorphic large neurons are commonly located in the subc...

journal_title：Journal of child neurology

authors： Yamanouchi H

更新日期：2005-04-01 00:00:00

abstract：:Pyridoxine-dependent seizures are a rare condition recognized when numerous seizures respond to pyridoxine treatment and recur on pyridoxine withdrawal. For decades the diagnosis was confirmed only with pyridoxine treatment withdrawal trial. Recently described biochemical and molecular pathology improved the diagnosti...

journal_title：Journal of child neurology

authors： Kaczorowska M,Kmiec T,Jakobs C,Kacinski M,Kroczka S,Salomons GS,Struys EA,Jozwiak S

更新日期：2008-12-01 00:00:00

abstract：:Patients with refractory seizures, including those with Sturge-Weber syndrome, undergo functional studies in preparation for surgery. Perfusion studies in Sturge-Weber syndrome by single photon emission computed tomography and positron emission tomography generally demonstrate hypoperfusion in the diseased tissue. We ...

journal_title：Journal of child neurology

authors： Oguz KK,Senturk S,Ozturk A,Anlar B,Topcu M,Cila A

更新日期：2007-05-01 00:00:00

abstract：:Hereditary sensory and autonomic neuropathies have different phenotypes. We report 2 cousins with differing clinical courses of a hereditary sensory and autonomic neuropathy. The progressive disease in case 1 is dominated by loss of sensation, autonomic crises, and pain. Case 2 shows loss of sensation, mental retardat...

journal_title：Journal of child neurology

authors： Koy A,Freynhagen R,Mayatepek E,Tibussek D

更新日期：2012-02-01 00:00:00

abstract：:In this era of changing priorities, regulations, and resources, it is useful to look both back and forward at the building of a division of child neurology in the context of the emergence of child neurology as a nationally and internationally recognized distinct subspecialty of both pediatrics and neurology. Both Pitt...

journal_title：Journal of child neurology

authors： Schor NF,Crumrine PK

更新日期：2003-02-01 00:00:00

abstract：:A subset of inattentive children have an underlying problem in sustaining wakefulness ("vigilance"). This disorder of vigilance, termed Weinberg's syndrome, is characterized by difficulty in maintaining wakefulness and alertness as evidenced by (among other symptoms) motor restlessness (fidgeting and moving about, yaw...

journal_title：Journal of child neurology

authors： Brumback RA

更新日期：2000-07-01 00:00:00

abstract：:Imaging findings of brain damage due to neonatal hypoglycemia are known; however, the effect of childhood hypoglycemia on the brain has not been described well. The authors present the case of a 6-year-old girl who had seizures secondary to hypoglycemia followed up for 1 year as epilepsy. The patient had experienced a...

journal_title：Journal of child neurology

authors： Kara C,Aydin OF,Aslan B,Gürer YK

更新日期：2007-02-01 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：:From February 2006 to March 2008, 42 pregnant women homozygous for the 677CT-methylenetetrahydrofolate reductase (MTHFR) allele were recruited in our obstetrics service for pregnancy at risk. All had antithrombotic prophylaxis with low-dose aspirin and/or low-molecular-weight heparin, supplemented with folic acid. In ...

journal_title：Journal of child neurology

authors： Pogliani L,Muggiasca L,Arrigoni L,Rossi E,Zuccotti G

更新日期：2010-06-01 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：: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 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：: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：:Movement disorders, a common problem in children with neurologic impairment, are receiving increasing clinical attention. The differences in movement disorders between adults and children are striking; presentation is frequently insidious and may be characterized by mild hypotonia. The clinical manifestations of extra...

journal_title：Journal of child neurology

authors： Edgar TS

更新日期：2003-09-01 00:00:00

abstract：:Healthy Chinese individuals (n = 168), aged from 24 hours to 30 years, were studied to establish the following normal values: (1) motor conduction velocity, distal latency, amplitude, and F-wave velocity in the median, ulnar, tibial, and peroneal nerves; (2) H-reflex velocity and latency in the tibial nerve for all su...

journal_title：Journal of child neurology

authors： Cai F,Zhang J

更新日期：1997-01-01 00:00:00

abstract：:The standard physical examination evaluation for a proprioception abnormality depends upon the patient's ability to follow directions and respond to the examiner, a skill not yet developed in toddlers. This study demonstrates a new proprioception examination method that may allow for better localization of lesions and...

journal_title：Journal of child neurology

authors： Gray EM,Tomlison KG,Kileny S,Leber SM

更新日期：2019-03-01 00:00:00

abstract：:Lissencephaly is a brain malformation manifested by a smooth cerebral surface and caused by incomplete neuronal migration. Clinical sequellae include minor craniofacial changes (bitemporal hollowing, small jaw), severe mental retardation, and other neurological abnormalities. Patients with classical or type I lissence...

journal_title：Journal of child neurology

authors： Pavone L,Gullotta F,Incorpora G,Grasso S,Dobyns WB

更新日期：1990-01-01 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：:Schilder's myelinoclastic diffuse sclerosis is a rare sporadic demyelinating disease that usually affects children between 5 and 14 years old. The disease often mimics intracranial neoplasm or abscess. We report a 9-year-old girl with Schilder's disease who presented with left hemiparesis. Cranial computed tomography ...

journal_title：Journal of child neurology

authors： Kurul S,Cakmakçi H,Dirik E,Kovanlikaya A

更新日期：2003-01-01 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：: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：: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

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 purpose of this study was to determine which clinical characteristics correlated with abnormal computed tomographic (CT) scans in epileptic children. Thirty variables were examined. Of these, four variables (presence of inherited or congenital disease, focal motor findings, developmental delay, and early onset of ...

journal_title：Journal of child neurology

authors： Koprowski C,Clancy R

更新日期：1986-04-01 00:00:00

abstract：:Brain tissue from three patients with a clinical diagnosis of Reye syndrome was compared with tissue from three control patients. All Reye syndrome patients demonstrated cytotoxic cerebral edema, with swelling of astrocyte foot processes, which was not seen in controls. Myelin sheath splitting was seen both in control...

journal_title：Journal of child neurology

authors： Blisard KS,Davis LE

更新日期：1991-01-01 00:00:00

abstract：:Seven school-aged children treated for temporal lobe astrocytomas with surgical resection and irradiation were prospectively tested to evaluate their intellectual, academic, personality, and neurologic status after therapy. At their most recent follow-up examination, neuropsychologic functioning was adequate in only t...

journal_title：Journal of child neurology

authors： Mulhern RK,Kovnar EH,Kun LE,Crisco JJ,Williams JM

更新日期：1988-01-01 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：: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 combination of pontocerebellar hypoplasia and anterior horn cell degeneration is classified as pontocerebellar hypoplasia type 1. Although most cases exhibit severe muscle weakness and hypotonia neonatally with short life spans, some cases exhibit a later onset with a longer life span and show cerebellar atrophy w...

journal_title：Journal of child neurology

authors： Sanefuji M,Kira R,Matsumoto K,Gondo K,Torisu H,Kawakami H,Iwaki T,Hara T

更新日期：2010-11-01 00:00:00

abstract：:Cerebral venous sinus compression can mimic idiopathic intracranial hypertension. The authors report the case of a 12-year-old girl who presented with diplopia and papilledema 3 weeks after a head injury. Lumbar puncture confirmed raised intracranial pressure, and neuroimaging subsequently identified a skull fracture ...

journal_title：Journal of child neurology

authors： Dabscheck G,Mackay M,Coleman L,Lo P

更新日期：2007-03-01 00:00:00