Expression of the LIS-1 gene product in brain anomalies with a migration disorder.

abstract：BACKGROUND:Rachischisis totalis is a rare open neural tube defect often associated with lethal acrania. When acrania is not present, mortality remains high and morbidity for survivors is extreme. PATIENT:We describe is a term newborn with in-utero diagnosed rachischisis totalis without acrania and Chiari II malformati...

journal_title：Pediatric neurology

authors： Meadows JT Jr,Hayes D Jr

更新日期：2014-07-01 00:00:00

abstract：BACKGROUND:Exome sequencing has recently been proved to be a successful diagnostic method for complex neurodevelopmental disorders. However, the diagnostic yield of exome sequencing for autism spectrum disorders has not been extensively evaluated in large cohorts to date. MATERIALS AND METHODS:We performed diagnostic ...

journal_title：Pediatric neurology

authors： Rossi M,El-Khechen D,Black MH,Farwell Hagman KD,Tang S,Powis Z

更新日期：2017-05-01 00:00:00

abstract：:We analyzed the clinical manifestations, genetic mutations, treatment responses to L-dopa, and long-term neurologic outcomes in Taiwanese infants with tyrosine hydroxylase deficiency. From 1999 to May 2011, we enrolled six infants who had been diagnosed with tyrosine hydroxylase deficiency by identifying point mutatio...

journal_title：Pediatric neurology

authors： Chi CS,Lee HF,Tsai CR

更新日期：2012-02-01 00:00:00

abstract：:A young child with Hallervorden-Spatz syndrome is presented. She was well until 8 years of age when she lost interest in activities and her school performance declined. At age 11 years, she began having episodes of blepharospasm, accompanied by bilateral ptosis and occasional episodes of oculogyric crisis. By age 12 y...

journal_title：Pediatric neurology

authors： Zupanc ML,Chun RW,Gilbert-Barness EF

更新日期：1990-09-01 00:00:00

abstract：BACKGROUND:Classic L-dopa-responsive dystonia is characterized by the triad of dystonia, diurnal fluctuation of signs, and dramatic response of signs to low-dose L-dopa therapy. Dopa-responsive dystonia succinctly summarizes the relevant clinical features. However, literal application of this label or consideration of ...

journal_title：Pediatric neurology

authors： Friedman JR

更新日期：2016-06-01 00:00:00

abstract：:A 4-year-old female was hospitalized with clinical and electroencephalographic evidence of acute encephalopathy. Five days later the classic signs of Kawasaki disease appeared. The neurologic outcome in this female was poor despite early treatment with immunoglobulin. Like many other vasculitidies, Kawasaki disease ca...

journal_title：Pediatric neurology

authors： Tabarki B,Mahdhaoui A,Selmi H,Yacoub M,Essoussi AS

更新日期：2001-09-01 00:00:00

abstract：:A debilitating, regularly recurring, biphasic disorder is described in 6 severely multidisabled children. It was characterized by several days of lethargy, withdrawal, loss of abilities, irritability, and hypersomnolence followed or preceded by a high-energy state for several days during which the children slept very ...

journal_title：Pediatric neurology

authors： Jan JE,Abroms IF,Freeman RD,Brown GM,Espezel H,Connolly MB

更新日期：1994-02-01 00:00:00

abstract：:Stimulant therapy is usually contraindicated in patients with movement disorders such as tics or chorea. A young boy is reported who had benign hereditary chorea and attention deficit disorder, whose chorea, handwriting, and independent ambulation paradoxically improved with methylphenidate treatment. ...

journal_title：Pediatric neurology

authors： Friederich RL

更新日期：1996-05-01 00:00:00

abstract：:A 5-year-old girl with hemolytic uremic syndrome is reported with pituitary hemorrhage in the acute phase. Seizures, hemiplegia, and transient blindness were observed. These symptoms cannot be attributed to the pituitary hemorrhage; however, pituitary hemorrhage should be added to the list of neurologic lesions that c...

journal_title：Pediatric neurology

authors： Nagai T,Hasegawa O,Tuji A,Kamiyama Y,Honda M,Ito H

更新日期：1992-01-01 00:00:00

abstract：:Variant forms of the Guillain-Barré syndrome are characterized by their localized or regional involvement of the peripheral and autonomic nerves. As there is no single clinical or serologic marker for Guillain-Barré syndrome, diagnosis of this condition is based upon consistent clinical, laboratory, and neurophysiolog...

journal_title：Pediatric neurology

authors： Mogale KD,Antony JH,Ryan MM

更新日期：2005-10-01 00:00:00

abstract：:Four patients with the classic form and 1 patient with the connatal form of Pelizaeus-Merzbacher disease were studied with magnetic resonance imaging, electroencephalography, and multimodal evoked potentials, including brainstem auditory evoked potentials, somatosensory evoked potentials, and visual evoked potentials....

journal_title：Pediatric neurology

authors： Wang PJ,Young C,Liu HM,Chang YC,Shen YZ

更新日期：1995-01-01 00:00:00

abstract：:The involvement of the cerebellum in unfavorable outcomes of extreme prematurity is increasingly recognized. Evidence implicates both cerebellar injury and cerebellar growth failure, which, along with supratentorial lesions, aggravate motor and developmental outcomes. We describe clinical and neuroradiologic findings ...

journal_title：Pediatric neurology

authors： Zafeiriou DI,Ververi A,Anastasiou A,Soubasi V,Vargiami E

更新日期：2013-01-01 00:00:00

abstract：:Two patients with neonatal onset of arm weakness resulting from neoplastic involvement of the brachial plexus who were initially considered to have obstetric brachial plexus palsies are reported. The first patient was a 7-day-old female who presented with a left supraclavicular mass that was first detected at 2 days o...

journal_title：Pediatric neurology

authors： Alfonso I,Papazian O,Prieto G,Alfonso DT,Melnick SJ

更新日期：2000-04-01 00:00:00

abstract：:A wide cavum septum pellucidum defined as a separation of greater than 1 cm of the leaves occurs uncommonly. Nine children with wide cavum septum pellucidum were studied; 8 were abnormal. Observed abnormalities included cognitive impairment (8), seizures (4), hypoplasia of the corpus callosum (4), optic nerve hypoplas...

journal_title：Pediatric neurology

authors： Bodensteiner JB,Schaefer GB

更新日期：1990-11-01 00:00:00

abstract：:To investigate ophthalmologic manifestations in children with definitive oxidative phosphorylation disorders, a retrospective review was conducted of clinical and laboratory records of all such pediatric patients (n = 103) diagnosed and treated at one center between 1983 and 2006. All were residents of Victoria, Austr...

journal_title：Pediatric neurology

authors： Rose LV,Rose NT,Elder JE,Thorburn DR,Boneh A

更新日期：2008-06-01 00:00:00

abstract：PURPOSE:To provide consensus-based, suggested imaging protocols to facilitate the accurate and timely diagnosis of a neonate with symptoms concerning for stroke. METHODS:The Writing Group, an international collaboration of pediatric neurologists and neuroradiologists with expertise in perinatal and childhood stroke, p...

journal_title：Pediatric neurology

authors： Lee S,Mirsky DM,Beslow LA,Amlie-Lefond C,Danehy AR,Lehman L,Stence NV,Vossough A,Wintermark M,Rivkin MJ,International Paediatric Stroke Study Neuroimaging Consortium and the Paediatric Stroke Neuroimaging Consortium.

更新日期：2017-04-01 00:00:00

abstract：:We investigate the incidence of torticollis associated with neonatal brachial plexus palsy, whether the severity of brachial plexus palsy affects outcomes and the rate of recovery. We performed a retrospective review of 128 consecutive neonatal brachial plexus palsy patients evaluated at the University of Michigan fro...

journal_title：Pediatric neurology

authors： Hervey-Jumper SL,Justice D,Vanaman MM,Nelson VS,Yang LJ

更新日期：2011-11-01 00:00:00

abstract：:Normal development of the central nervous system depends on complex, dynamic mechanisms with multiple spatial and temporal components during gestation. Neurodevelopmental disorders may originate during fetal life from genetic as well as intrauterine and extrauterine factors that affect the fetal-maternal environment. ...

journal_title：Pediatric neurology

authors： Connors SL,Levitt P,Matthews SG,Slotkin TA,Johnston MV,Kinney HC,Johnson WG,Dailey RM,Zimmerman AW

更新日期：2008-03-01 00:00:00

abstract：:Tourette syndrome is a neurologic disorder characterized by both motor and vocal tics. Recently, two variants, including a single-base deletion resulting in a truncated protein and a 3'-untranslated-region variant altering a binding site for micro-RNA in the Slit and Trk-like 1 gene, were found to be a genetic cause o...

journal_title：Pediatric neurology

authors： Chou IC,Wan L,Liu SC,Tsai CH,Tsai FJ

更新日期：2007-12-01 00:00:00

abstract：:Epidermal nevus syndrome is a neurocutaneous disorder characterized by the association of epidermal nevi with central nervous system or skeletal abnormalities. Central nervous system abnormalities include hemimegalencephaly, hydrocephalus, various migration disorders, intraspinal lipomas, and enlarged spinal roots. Ra...

journal_title：Pediatric neurology

authors： Kara B,Inan N,Bayramgürler D,Altintaş O,Akbulut A

更新日期：2008-10-01 00:00:00

abstract：BACKGROUND:Weight loss is one of the most frequent side effects of topiramate treatment. The aim of our study was to investigate the effect of topiramate on body mass index, serum glucose, insulin, cortisol, leptin, and neuropeptide-Y levels and the role of these variables on the pathogenesis of weight loss in prepuber...

journal_title：Pediatric neurology

authors： Ozcelik AA,Serdaroglu A,Bideci A,Arhan E,Soysal Ş,Demir E,Gücüyener K

更新日期：2014-08-01 00:00:00

abstract：:Histologic changes in brains from mentally retarded patients are often subtle and may be limited to abnormalities in the dendritic and synaptic organization of the cerebral cortex. Special methods may be necessary for their demonstration. This review summarizes data on dendritic and synaptic pathology in human mental ...

journal_title：Pediatric neurology

authors： Huttenlocher PR

更新日期：1991-03-01 00:00:00

abstract：:Nonuniform pathologic changes in chronic inflammatory demyelinating polyneuropathy were previously reported only in adult humans. We analyzed the pathologic features of 12 children, aged 2-17 years, with chronic inflammatory demyelinating polyneuropathy. Six patients manifested a preceding illness. Five patients prese...

journal_title：Pediatric neurology

authors： Luan X,Zheng R,Chen B,Yuan Y

更新日期：2010-08-01 00:00:00

abstract：:Niemann-Pick type C disease is an autosomal-recessive, inherited neurovisceral lipid storage disorder. This disease results from either protein NPC1 or HE1 deficiency, which leads to cholesterol metabolism disturbance and is characterized by early hepatosplenomegaly and progressive ataxia, dystonia, cataplexy, dysarth...

journal_title：Pediatric neurology

authors： Zafeiriou DI,Triantafyllou P,Gombakis NP,Vargiami E,Tsantali C,Michelakaki E

更新日期：2003-09-01 00:00:00

abstract：BACKGROUND:The aim of this study was to assess the sensibility of the hand in children with a neonatal brachial plexus palsy (NBPP) involving the C5 and C6, and to correlate results with dexterity. METHODS:Fifty children with NBPP (30 after nerve surgery, mean age 9.8 years) and 25 healthy controls (mean age 9.6 years...

journal_title：Pediatric neurology

authors： Buitenhuis SM,Pondaag W,Wolterbeek R,Malessy MJA

更新日期：2018-09-01 00:00:00

abstract：:The acute effects of low-dose clonazepam on seizure frequency in children with epilepsy was evaluated. In an open study, 19 children with epilepsy (15 generalized and four partial) were examined during hospitalization with recordings of seizures by trained personnel. Seizures were counted during two 24-hour periods: b...

journal_title：Pediatric neurology

authors： Dahlin MG,Amark PE,Nergårdh AR

更新日期：2003-01-01 00:00:00

abstract：:In clinical practice, an association is commonly suggested between nocturnal epileptiform activity and language disorders in children. However, this association has not been studied systematically. This study explored the correlation between daily and nocturnal epileptiform discharges ratio, frequency of nocturnal epi...

journal_title：Pediatric neurology

authors： Overvliet GM,Besseling RM,Vles JS,Hofman PA,van Hall MH,Backes WH,Aldenkamp AP

更新日期：2011-05-01 00:00:00

abstract：:Visual symptomatology in childhood often presents diagnostic difficulties. Recurrent paroxysmal visual complaints, although typically associated with migraine, may also signal other disorders. We describe a 9-year-old partially sighted male with paroxysmal zoopsias resulting from Charles Bonnet syndrome. This conditio...

journal_title：Pediatric neurology

authors： Mewasingh LD,Kornreich C,Christiaens F,Christophe C,Dan B

更新日期：2002-02-01 00:00:00

abstract：:Four children with self-inflicted strangulation injuries had cerebral blood flow determined by stable xenon computed tomography (XeCTCBF) within 24 hours of admission. All had suffered a severe hypoxic-ischemic cerebral injury; 3 initially had fixed pupils, all were apneic with varying bradyarrhythmias, and the initia...

journal_title：Pediatric neurology

authors： Ashwal S,Perkin RM,Thompson JR,Tomasi LG,van Stralen D,Schneider S

更新日期：1991-09-01 00:00:00

abstract：:An optimal botulinum toxin dose may be related to the volume of the targeted muscle. We investigated the suitability of using ultrasound and anthropometry to estimate gastrocnemius and soleus muscle volume. Gastrocnemius and soleus muscle thickness was measured in 11 cadaveric human legs, using ultrasound. Lower leg l...

journal_title：Pediatric neurology

authors： Bandholm T,Sonne-Holm S,Thomsen C,Bencke J,Pedersen SA,Jensen BR

更新日期：2007-10-01 00:00:00