Wilms' tumor in a case with Möbius' syndrome associated with arthrogryposis and mega cisterna magna.

abstract：:Six girls between 2 years 9 months and 15 years of age with Rett syndrome were thoroughly investigated. Blood ammonia levels varied between 42 and 123 mumol/L, and serum lactate concentration was slightly elevated in two girls. Electroencephalograms showed a dysrhythmic pattern during wakefulness; during drowsiness an...

journal_title：Journal of child neurology

authors： Eeg-Olofsson O,al-Zuhair AG,Teebi AS,Daoud AS,Zaki M,Besisso MS,Al-Essa MM

更新日期：1990-07-01 00:00:00

abstract：:We performed a retrospective review of 65 children with developmental delay. The male-to-female ratio was 2.25 : 1, and the mean age was 5.8 years; performance IQ was 94.8, verbal IQ was 83, and full-scale IQ was 87.4. Twenty-three (35%) children had normal language development, 13 (20%) had below average language dev...

journal_title：Journal of child neurology

authors： Liao SF,Liu JC,Hsu CL,Chang MY,Chang TM,Cheng H

更新日期：2015-01-01 00:00:00

abstract：:Managing severe epilepsy syndromes of early childhood is challenging as the seizures are typically resistant to treatment and may cause disabling mental and behavioral problems in later life. A comprehensive treatment plan includes pharmacologic, nonpharmacologic, and surgical options. This article reviews clinical st...

journal_title：Journal of child neurology

authors： Wheless JW

更新日期：2009-08-01 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：:Given the increased survival rates in patients with pediatric central nervous system tumors, late effects such as treatment- and/or illness-related neurologic sequelae as well as neuropsychological deficits and social difficulties have moved into focus in follow-up care. In order to provide personalized treatment reco...

journal_title：Journal of child neurology

authors： Pletschko T,Felnhofer A,Schwarzinger A,Weiler L,Slavc I,Leiss U

更新日期：2017-01-01 00:00:00

abstract：:A 10-year-old boy with tuberous sclerosis complex and macrodactyly of the right index and middle fingers is described. He also had a fibrous hamartoma at the front of the right wrist. The association of fibrous hamartoma and macrodactyly has not been previously described in tuberous sclerosis complex. ...

journal_title：Journal of child neurology

authors： Sharma S,Sankhyan N,Gulati S,Kumar A,Srinivas M,Shukla B,Mathur SR

更新日期：2011-01-01 00:00:00

abstract：:We evaluated the neuropsychological and neurologic outcome of 15 long-term survivors of posterior fossa tumors who were treated between 1970 and 1984 with cranial irradiation (n = 15) and surgery (n = 14). The interval between diagnosis and evaluation ranged from 4 to 20 years (median = 10 years). Earlier age at diagn...

journal_title：Journal of child neurology

authors： Chapman CA,Waber DP,Bernstein JH,Pomeroy SL,LaVally B,Sallan SE,Tarbell N

更新日期：1995-05-01 00:00:00

abstract：:The purpose of this study was to assess sleep, daytime sleepiness, and behavior problems in children suffering from headaches and in controls, with a special focus on the role of gender. A clinical group of 28 children with persistent headache complaints and a control group of 108 healthy children were included. Sleep...

journal_title：Journal of child neurology

authors： Bursztein C,Steinberg T,Sadeh A

更新日期：2006-12-01 00:00:00

abstract：:Neurologic toxicity may occur as a direct effect of cancer and its therapy or indirectly because of a dysfunctional immune system. The authors report the development of axonal neuropathy, myelopathy, and leucoencephalopathy associated with glutamic acid decarboxylase-65 (GAD) antibodies in 4 children with progressive ...

journal_title：Journal of child neurology

authors： Ledet DS,Handgretinger R,Bertorini TE,Hale GA,Ribeiro RC,Khan RB

更新日期：2008-11-01 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：:The aim of this study was to investigate the influence of metabolic control on quantitative electroencephalographic (EEG) abnormalities in young diabetic patients. We compared quantitative EEGs of 44 insulin-dependent diabetic patients with age-matched controls. Furthermore, differences in EEG variables of diabetic pa...

journal_title：Journal of child neurology

authors： Hauser E,Strohmayer C,Seidl R,Birnbacher R,Lischka A,Schober E

更新日期：1995-07-01 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：:The authors reviewed the medical records of very low-birth-weight infants admitted from 1998 to 2007 and compared neurodevelopmental outcomes with their previously reported data from 1989 to 1997. The recent group included 824 infants, and the previous group included 471 infants. Neurodevelopmental outcomes were class...

journal_title：Journal of child neurology

authors： Jang DH,Sung IY,Jeon JY,Moon HJ,Kim KS,Kim EA,Lee BS

更新日期：2011-11-01 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：:A 12-year-old boy with perinatally acquired human immunodeficiency virus infection an d Centers for Disease Control and Prevention class C3 disease presented with acute onset of confusion and a right-sided movement disorder 5 months after beginning a new antiretroviral regimen. His CD4 count had been below 50 cells/mi...

journal_title：Journal of child neurology

authors： Bonkowsky JL,Christenson JC,Nixon GW,Pavia AT

更新日期：2002-06-01 00:00:00

abstract：:A case of a 5-day-old newborn with rhizomelic chondrodysplasia punctata was investigated with multivoxel magnetic resonance spectroscopy, including chemical shift imaging maps, which disclosed a decrease in the choline peak and the choline signal intensity, respectively, in the right cerebral hemisphere. This is the s...

journal_title：Journal of child neurology

authors： Sigirci A,Alkan A,Kutlu R,Gülcan H

更新日期：2005-08-01 00:00:00

abstract：:We present the results from the evaluations of three children ages of 2, 7, and 11 years with hemiparesis and multiple white-matter lesions on magnetic resonance images (MRIs). The initial symptoms were mainly acute/subacute hemiparesis in all and headache/vomiting in one of them. Before admission, one of them had a h...

journal_title：Journal of child neurology

authors： Yapici Z,Eraksoy M

更新日期：2002-09-01 00:00:00

abstract：:Aminoacyl-transfer ribonucleic acid (RNA) synthetases (ARSs) are a group of enzymes required for the first step of protein translation. Each aminoacyl-transfer RNA synthetase links a specific amino acid to its corresponding transfer RNA component within the cytoplasm, mitochondria, or both. Mutations in ARSs have been...

journal_title：Journal of child neurology

authors： McMillan HJ,Humphreys P,Smith A,Schwartzentruber J,Chakraborty P,Bulman DE,Beaulieu CL,FORGE Canada Consortium.,Majewski J,Boycott KM,Geraghty MT

更新日期：2015-07-01 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：:Cavernous haemangiomas, or cavernous malformations, have been reported during pregnancy, most of which have been either supratentorial or spinal lesions. We encountered a 15-year old pregnant patient with a rapidly progressive and haemorrhagic brainstem cavernous haemangioma. The case presented here describes the hist...

journal_title：Journal of child neurology

authors： Ranger AM,Chaudhary N,Avery M,Lownie S

更新日期：2013-10-01 00:00:00

abstract：:We assessed pediatrician awareness of the parameter ''Evaluating the first non-febrile seizure in children'' and how the concepts of this parameter were incorporated into practice. Although most reported caring for children with seizures, 60% were not aware of the practice parameter. When given the clinical scenario o...

journal_title：Journal of child neurology

authors： Bale JF Jr,Caplin DA,Bruse JD,Folland D

更新日期：2009-12-01 00:00:00

abstract：:An association between overweight and attention-deficit/hyperactivity disorder (ADHD) in children was previously suggested. We examined the prevalence of overweight, anthropometric changes, and the effect of methylphenidate treatment in 275 children with ADHD without neurological comorbidities and in controls. Data we...

journal_title：Journal of child neurology

authors： Dubnov-Raz G,Perry A,Berger I

更新日期：2011-03-01 00:00:00

abstract：:This article describes a case of pyruvate dehydrogenase deficiency in a 3-year-old boy who presented generalized hypotonia, severe psychomotor development delay, and generalized and partial seizures and was refractory to antiepileptic drugs. After the diagnosis, the patient was put on a ketogenic diet. Six months late...

journal_title：Journal of child neurology

authors： Di Pisa V,Cecconi I,Gentile V,Di Pietro E,Marchiani V,Verrotti A,Franzoni E

更新日期：2012-12-01 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：:Autism is etiologically heterogeneous; medical conditions are implicated in only a minority of cases, whereas metabolic disorders are even less common. Recently, there have been articles describing the association of autism with mitochondrial abnormalities. We critically review the current literature and conclude that...

journal_title：Journal of child neurology

authors： Lerman-Sagie T,Leshinsky-Silver E,Watemberg N,Lev D

更新日期：2004-05-01 00:00:00

abstract：OBJECTIVE:To evaluate the safety and tolerability of adjunctive eslicarbazepine acetate (ESL) in pediatric patients (aged 4-17 years) with refractory focal seizures. METHODS:Pooled safety data from patients aged 4-17 years in Study 208 (NCT01527513) and Study 305 (NCT00988156) were analyzed. Both were randomized, doub...

journal_title：Journal of child neurology

authors： Mintz M,Pina-Garza JE,Wolf SM,McGoldrick PE,Józwiak S,Grinnell T,Cantu D,Costa R,Moreira J,Li Y,Blum D

更新日期：2020-03-01 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：:Anti-N-methyl-D-aspartate (NMDA) receptor encephalitis is a recently recognized autoimmune neurologic disorder that presents with severe neuropsychiatric symptoms in previously healthy children. A 4-year-old Lebanese girl presented with new-onset behavioral changes, orofacial dyskinesias, fluctuation in consciousness,...

journal_title：Journal of child neurology

authors： Safadieh L,Dabbagh O

更新日期：2013-10-01 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：:Two children with neurofibromatosis and a chief complaint of severe, episodic, unilateral facial itching were found to have brainstem glioma. Initial computerized tomography of the brain was thought to be normal, but the brainstem tumor was subsequently demonstrated on magnetic resonance imaging. The paroxysmal facial...

journal_title：Journal of child neurology

authors： Summers CG,MacDonald JT

更新日期：1988-07-01 00:00:00