Abstract：
:Rett syndrome is a neurodevelopmental disorder that almost exclusively affects females. The clinical course as well as the electroencephalogram pattern are characteristic and have been correlated to the clinical stages of the disease. Sixty to 70 percent of the patients develop epilepsy. The aim of this retrospective study was to investigate the correlation between clinical stages and electroencephalogram stages and to more specifically correlate epileptic activity in electroencephalograms with the clinical symptoms of patients. The clinical development and electroencephalogram results of 11 patients diagnosed with Rett syndrome between 1 and 33 years old are compared. In 8 of 11 patients, a correlation was found between electroencephalogram stage and clinical stage. In three of them, epileptic activity in the electroencephalogram was not associated with clinical seizures. Some typical symptoms of Rett patients (hand stereotypies, vacant spells) can be difficult to differentiate from seizures. Therefore application of antiepileptic treatment should be well evaluated, as the clinical course is decisive.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Moser SJ,Weber P,Lütschg Jdoi
10.1016/j.pediatrneurol.2006.10.003subject
Has Abstractpub_date
2007-02-01 00:00:00pages
95-100issue
2eissn
0887-8994issn
1873-5150pii
S0887-8994(06)00626-6journal_volume
36pub_type
杂志文章abstract：:Twelve patients with hereditary motor and sensory neuropathy with the absence of large myelinated fibers have been reported. All of these patients had central nervous system involvement. In this report, we describe the first patient with pure motor and sensory neuropathy with the absence of large myelinated fibers wit...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(00)00192-2
更新日期：2000-10-01 00:00:00
abstract：BACKGROUND:The Hammersmith Infant Neurological Examination is one of several useful tools for early identification of cerebral palsy; however, cut-off scores for cerebral palsy do not consistently distinguish infants with hemiplegia from those typically developing. We hypothesized that use of an asymmetry score, in add...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2018.07.002
更新日期：2018-10-01 00:00:00
abstract：:The purpose of this study was to describe the spectrum of possible abnormal neurologic outcomes in term infants with intrapartum asphyxia and to identify those clinical factors associated with the later occurrence of cerebral palsy. All children with term intrapartum asphyxia encountered in a single pediatric neurolog...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2009.06.001
更新日期：2009-12-01 00:00:00
abstract：:A 13-year-old female is described with presumed viral encephalitis, who developed progressive catatonia, agitation, and autonomic dysfunction. The diagnosis of malignant catatonia was made, and the patient improved with electroconvulsive treatment. This article discusses features, causes, differential diagnosis, and t...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2004.10.004
更新日期：2005-03-01 00:00:00
abstract：:Once-daily ethosuximide was used to treat 10 consecutive children with typical absence seizures. Three patients had gastrointestinal side effects which resolved when the same total daily dose was divided into 2 doses. Two other patients continued to have seizures on ethosuximide, whether given once or twice daily. Fiv...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(90)90076-d
更新日期：1990-01-01 00:00:00
abstract：:Vertigo, instability, dizziness, or equilibrium disorders are not usually considered as consequences of ophthalmologic problems. We present data indicating that ocular disorders can be responsible for these symptoms in children. In a population of 523 pediatric patients with vertigo or disequilibrium and referred for ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(00)00140-5
更新日期：2000-07-01 00:00:00
abstract：:Auditory event-related potentials (P300 latency; odd-ball paradigm) were examined in 129 patients with childhood epilepsies and 53 controls. The P300 latency in the patients with epilepsies (373 +/- 39.4 ms) was significantly longer than in controls (356 +/- 38.4), and the prolongation was greatest in the patients wit...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(95)00001-v
更新日期：1995-02-01 00:00:00
abstract：:Patients with autosomal dominant Segawa disease (dopa-responsive dystonia) demonstrate excellent, sustained response to low-dose levodopa. In contrast, the development of levodopa limiting treatment dyskinesias is thought to support the diagnosis of other early-onset dystonia/parkinsonism syndromes. We describe an aty...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2012.03.003
更新日期：2012-06-01 00:00:00
abstract：BACKGROUND:No therapies have been formally approved by the Food and Drug Administration for use in pediatric multiple sclerosis, a rare disease. OBJECTIVE:We evaluated the safety, efficacy, and pharmacokinetics of dimethyl fumarate in pediatric patients with multiple sclerosis. METHODS:FOCUS, a phase 2, multicenter s...
journal_title：Pediatric neurology
pub_type： 杂志文章,多中心研究
doi：10.1016/j.pediatrneurol.2018.03.007
更新日期：2018-06-01 00:00:00
abstract：:Methotrexate causes several biochemical changes that impact the nervous system. The neurotoxicity usually affects the cerebral white matter, causing a leukoencephalopathy that can be chronic and progressive with cognitive decline. A 15-year-old male developed olfactory seizures and behavioral abnormalities (hypersexua...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(01)00376-9
更新日期：2002-04-01 00:00:00
abstract：:A male with developmental dysphasia is documented with fine motor dysfunction whose improvement in expressive language was associated with increased cerebellar perfusion, as detected by serial N-isopropyl-p-[iodine-123] iodoamphetamine single photon emission computed tomography (SPECT). His expressive language has bee...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/s0887-8994(99)00075-2
更新日期：1999-10-01 00:00:00
abstract：:The updated American Heart Association/American Stroke Association guidelines include recommendation for thrombectomy in certain adult stroke cases. The safety and efficacy of thrombectomy in children are unknown. An 8-year-old girl experienced acute stroke symptoms on two occasions while therapeutically anticoagulate...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.pediatrneurol.2016.09.007
更新日期：2017-01-01 00:00:00
abstract：:The historic and current status of Hallervorden-Spatz syndrome diagnosis, classification, and therapies are discussed. A number of symptomatic therapies are available and should be used optimally for each patient. Although one gene locus has been identified, many patients do not manifest linkage to the NBIA1 locus (ne...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/s0887-8994(01)00253-3
更新日期：2001-08-01 00:00:00
abstract：:Epilepsy is a common disorder in pediatric neurology, and electroencephalography (EEG) continues to play an important role in its diagnosis. However, the small size of a child's head and immaturity of the brain make EEG interpretation more difficult in children than in adults. This article presents a new method of EEG...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2013.01.009
更新日期：2013-06-01 00:00:00
abstract：BACKGROUND:ATP1A3 mutations have now been recognized in infants and children presenting with a diverse group of neurological phenotypes, including Rapid-onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC), and most recently, Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineu...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.pediatrneurol.2014.09.015
更新日期：2015-01-01 00:00:00
abstract：:Moyamoya disease is an uncommon chronic cerebrovasculopathy, characterized by progressive stenosis of the terminal portion of the internal carotid artery and its main branches, in association with the development of compensatory collateral vessels at the base of the brain. The etiology is unknown, and was originally c...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.pediatrneurol.2011.02.007
更新日期：2011-06-01 00:00:00
abstract：:The most common clinical syndromes associated with 3-methylglutaconic aciduria are presented. In some patients these syndromes are multisystemic, progressive disorders of unknown etiology. Tissues deriving significant energy through oxidative metabolism (notably brain and cardiac muscle) are most often affected and in...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/0887-8994(93)90046-f
更新日期：1993-03-01 00:00:00
abstract：:Leigh syndrome, caused by dysfunction in mitochondrial energy metabolism, is an inherited, heterogeneous, and progressive neurodegenerative disorder of infancy and childhood. From 1983 to August 2006, 14 cases diagnosed with Leigh syndrome were studied in terms of characteristic neuroimaging findings and abnormal mito...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2008.09.020
更新日期：2009-02-01 00:00:00
abstract：:Nestin is a cytoskeletal protein expressed by neural stem cells, and by immature neurons and glial cells. In an effort to explore the potential of the infant brain for repair and plasticity, we immunohistochemically studied nestin expression in the human cerebral cortex of control subjects and of patients with periven...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2006.12.007
更新日期：2007-03-01 00:00:00
abstract：BACKGROUND:Seizures may cause added harm in neonates with hypoxic-ischemic encephalopathy (HIE). Specific recommendations about seizure treatment in this context are lacking. We sought to determine the scope of practice regarding management of non-status epilepticus electrographic-only seizures in this setting. METHOD...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2017.06.006
更新日期：2017-12-01 00:00:00
abstract：:Cloxazolam has been used mainly as an anxiolytic agent. The present study was designed to evaluate the effectiveness of cloxazolam as an add-on antiepileptic drug in patients with intractable epilepsy. A total of 32 patients with intractable epilepsy were treated with cloxazolam: 13 with generalized epilepsy, 15 with ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2010.06.005
更新日期：2010-12-01 00:00:00
abstract：:Chromosome X-to-autosome translocations [t(X;A)] are rare rearrangements with an estimated occurrence of 1 to 3 per 10,000 live births. Occurrences of Xq duplications have been observed in male and female subjects in whom the X chromosome segment escapes inactivation and results in functional disomy. We report a case ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2010.10.007
更新日期：2011-03-01 00:00:00
abstract：BACKGROUND:Newborns with congenital heart disease have associated brain damage that affects short-and long-term neurodevelopment. Several neuronal biomarkers exist that could predict brain damage. We investigated the pattern of neuron-specific enolase (NSE) and s100B levels after cardiopulmonary bypass surgery in neona...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2017.04.011
更新日期：2017-07-01 00:00:00
abstract：:We report on the successful use of electroconvulsive therapy in a 13-year-old boy with congenital hydrocephalus, a history of multiple shunt revisions, and a stable prepontine arachnoid cyst, who experienced profound catatonic deterioration. After initial shunt placement at age 20 months, the patient had followed norm...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2010.03.011
更新日期：2010-07-01 00:00:00
abstract：:We describe eight cases of pediatric patients whose neuroimages performed after seizures revealed abnormalities that were compatible with edema surrounding calcified lesions and which disappeared in subsequent examinations. ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(01)00324-1
更新日期：2001-10-01 00:00:00
abstract：:Obstetrical brachial plexus palsy, one of the most complex peripheral nerve injuries, presents as an injury during the neonatal period. The majority of the children recover with either no deficit or a minor functional deficit, but it is almost certain that some will not regain adequate limb function. These few cases m...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.pediatrneurol.2007.09.013
更新日期：2008-04-01 00:00:00
abstract：:Relapsing neuromyelitis optica is rare in children. The identification of a highly specific serum autoantibody marker (neuromyelitis optica-immunoglobulin G) differentiates neuromyelitis optica from other demyelinating disorders, particularly in clinically challenging cases. We present a child with multiple episodes o...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2008.05.016
更新日期：2008-09-01 00:00:00
abstract：:Mutations in the alpha-subunit of the first neuronal sodium channel gene SCN1A have been described in isolated patients with severe myoclonic epilepsy in infancy or Dravet syndrome and in families with generalized epilepsy with febrile seizures plus. To find phenotype/genotype correlations, we reviewed all published c...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2003.10.012
更新日期：2004-04-01 00:00:00
abstract：:Congenital hypotonia with favorable outcome is characterized by an early neonatal onset and a benign clinical course. The old term, proposed by Walton, was benign congenital hypotonia, denoting the presence of muscle weakness and hypotonia, with the exception of Werdnig-Hoffmann disease. It has been clear that this te...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(02)00379-x
更新日期：2002-05-01 00:00:00
abstract：:Eye movements were assessed in 22 patients with varying degrees of hypoxanthine-guanine phosphoribosyltransferase deficiency. Ocular motility was clinically normal in seven patients with moderate enzyme deficiency but grossly abnormal in 15 patients with severe enzyme deficiency. In patients with severe deficiency, fi...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(00)00265-4
更新日期：2001-03-01 00:00:00
