Abstract:
:A 5-year-old female case of 5p-syndrome exhibited pontine hypoplasia on magnetic resonance imaging. A high-pitched cry characteristic of 5p-syndrome disappeared after 2 years. 5p-syndrome should be considered as a differential diagnosis for brainstem, especially pontine, hypoplasia. Older patients with brainstem hypoplasia should be asked about a history of a high-pitched cry in infancy so as not to miss this syndrome.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Ninchoji T,Takanashi Jdoi
10.1016/j.braindev.2009.07.003subject
Has Abstractpub_date
2010-08-01 00:00:00pages
571-3issue
7eissn
0387-7604issn
1872-7131pii
S0387-7604(09)00199-5journal_volume
32pub_type
杂志文章abstract:BACKGROUND:Guillain-Barré syndrome and myasthenia gravis both lead to muscle weakness but the two combined is uncommon. Detection of these entities can help identify forms of autoimmune neuromuscular diseases that may respond to immunotherapy. This report sought to characterize the clinical features of these two entiti...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2012.10.016
更新日期:2013-10-01 00:00:00
abstract::We performed screening of beta-galactosidase-deficient fibroblasts for possible chemical chaperone therapy using N-octyl-4-epi-beta-valienamine (NOEV) in patients with GM1-gangliosidosis and Morquio B disease (beta-galactosidosis). Fibroblasts were cultured with NOEV for 4 days and beta-galactosidase activity was meas...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2006.02.002
更新日期:2006-09-01 00:00:00
abstract::The diagnosis of fragile X A syndrome (FRAXA) during childhood depends largely on DNA-based diagnostic tests due to the lack of the specific clinical features. To determine a non-invasive screening method for fragile X syndrome, we studied the method of DNA-based diagnosis using urine or hair roots instead of routinel...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2003.11.002
更新日期:2004-09-01 00:00:00
abstract:PURPOSE:Benign Childhood Epilepsy with Centrotemporal Spikes (BCECTS) is the most common childhood idiopathic focal epilepsy with a good outcome. However, an increasing number of reports suggest a 'not so benign' outcome showing atypical evolution. METHODS:We analyzed the electroencephalographic (EEG) spike source dip...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2016.06.001
更新日期:2016-11-01 00:00:00
abstract::This report concerns a 6-year-old girl who showed peculiar symptoms but responded favourably to L-dopa. She developed normally until around 1 year of age, at which time head instability, hypotonia, increased deep tendon reflexes and choreoathetotic movements developed. These symptoms appeared to worsen in the afternoo...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80299-3
更新日期:1991-01-01 00:00:00
abstract::Alexander disease is a major entity of leukodystrophy; magnetic resonance imaging (MRI) studies of the brain typically show extensive changes in the cerebral white matter with frontal predominance. Heterozygous missense mutations of GFAP are thought to be sufficient for the molecular diagnosis, which has widened the A...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2010.10.007
更新日期:2011-08-01 00:00:00
abstract:OBJECTIVE:To analyze and to discuss whether by paying attention to the many recent advancements in the field of pediatric epilepsy surgery catastrophic childhood epilepsies caused by definitive or suspected structural lesions can be prevented more often these days in comparison to the past. METHODS:Based on data from ...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/j.braindev.2013.05.003
更新日期:2013-09-01 00:00:00
abstract::The occurrence of seizures in patients with fragile X syndrome (Fra-X) is reported. Among the 30 patients, six had epilepsy that was particularly severe and two also showed atypical facial dysmorphism that was different from that seen in classical Fra-X. From the study performed in this series of Fra-X patients the au...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(02)00102-x
更新日期:2002-12-01 00:00:00
abstract::A seven-year-old girl with Krabbe disease presenting palatal myoclonus only when awake is reported. The patient was diagnosed as having Krabbe disease enzymatically at the age of eleven months. She developed rhythmical contractions of the soft palate, pharynx, larynx, lips and tongue at two years. The surface electrom...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80133-1
更新日期:1991-09-01 00:00:00
abstract::We report three typical cases of Landau-Kleffner syndrome with varied courses. The very frequent discharges in sleep EEGs, often showing the patterns of CSWS (continuous spike-waves during slow-wave sleep), either typical (spike-wave complex occupying over 85% of slow-wave sleep duration) or atypical (spike-waves occu...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(95)00168-9
更新日期:1996-05-01 00:00:00
abstract:OBJECTIVE:Autonomic nervous system activity is recognized as a major component of emotional responses. Future reward/punishment expectations depend upon the process of decision making in the frontal lobe, which is considered to play an important role in executive function. The aim of this study was to investigate the r...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2017.03.004
更新日期:2017-08-01 00:00:00
abstract:PURPOSE:To assess the efficacy of diazepam suppositories at preventing febrile seizure recurrence during a single febrile illness to determine how to treat children with a febrile seizure on presentation at the hospital. METHODS:We studied 203 children with febrile seizures from December 2004 through March 2006. On ad...
journal_title:Brain & development
pub_type: 临床试验,杂志文章
doi:10.1016/j.braindev.2008.07.010
更新日期:2009-06-01 00:00:00
abstract:OBJECTIVE:Epilepsia partialis continua (EPC) was one type of focal status epilepticus. The aim of this study was to analyze the clinical and electroencephalography (EEG) characteristics, and outcome of 57 child-onset patients with EPC according to different etiologies, and further explore the electro-clinical-etiologic...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2017.01.011
更新日期:2017-06-01 00:00:00
abstract::Alternating hemiplegia in childhood (AHC) has clinically characteristic features which are easily defined and recognizable. Laboratory investigations were basically normal although they were extensively examined during and between attacks. There is still much debate about its etiology, particularly its relation to mig...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/s0387-7604(12)80144-6
更新日期:1992-09-01 00:00:00
abstract:INTRODUCTION:We performed this study to confirm the known risk factors and to identify possible new risk factors for subsequent unprovoked seizure after febrile seizure (FS) on Jeju Island, South Korea. METHODS:A population-based retrospective study of 204 children with FS, whose first FS developed between March 2003 ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2014.06.003
更新日期:2015-03-01 00:00:00
abstract::The recent advances in neonatal neurology which are discussed include i) the improved organization of perinatal medical services, ii) technological advances including ultrasonography, brainstem auditory evoked responses and intracranial pressure monitoring and, iii) new developments in therapeutics. The development of...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(84)80095-9
更新日期:1984-01-01 00:00:00
abstract::A neurologic and neuropsychologic test battery was administered to a sample of 35 children drawn from all those in a defined geographic area who had been hospitalized for head trauma before age 7 during the years 1970-1976. Examination was performed 3 1/2 to 10 years after injury, at age 6-15. Twelve subjects had been...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(88)80095-0
更新日期:1988-01-01 00:00:00
abstract::Two cases of convulsive syncope following the insertion of sphenoidal electrodes are reported. The episodes occurred shortly after an uneventful insertion of the needle. Both patients exhibited behavioral arrest with loss of muscle tone, followed by flexor posturing, jerking of the extremities, then followed by what a...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(99)00006-6
更新日期:1999-04-01 00:00:00
abstract:PURPOSE:The aim of this study is to elucidate the clinical and neurophysiological characteristics of the myoclonic, myoclonic-astatic, or astatic seizures in patients with myoclonic-astatic epilepsy (MAE) of early childhood, and to discuss on the nosology of this unique epileptic syndrome. SUBJECTS:The subjects includ...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/s0387-7604(01)00281-9
更新日期:2001-11-01 00:00:00
abstract::Duchenne muscular dystrophy (DMD) is a recessive X-linked genetic disease caused by a mutation in the dystrophin gene. The new drug NS-065/NCNP-01 utilizing exon-skipping therapy targeting specific deletions has been used in a first-in-human trial for the treatment of DMD. We surveyed 10 pairs of DMD participants and ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2020.01.001
更新日期:2020-04-01 00:00:00
abstract::The pathogenesis of Menkes disease seems to be linked to metallothionein which binds to copper trapped within cells in some tissues. The only known therapy for this disease is parenteral administration of copper, but the effects are equivocal. We treated a patient with Menkes disease by giving vitamin C orally. The cl...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(85)80122-4
更新日期:1985-01-01 00:00:00
abstract::Serial changes of MRI scanning of an 11-year-old boy with hemiparesis due to a germ cell tumor in the basal ganglia are presented. Initial brain MRI T1-weighted images revealed a subtle mixed signal intensity lesion at left anterior and posterior limbs of the internal capsule. This lesion was not enhanced with Gd-DTPA...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(93)90024-3
更新日期:1993-07-01 00:00:00
abstract::154 patients with a mean age of 6 years 1 month were followed on valproate monotherapy for a period ranging from 5 to 27 months (mean 22 months). Absence epilepsies, benign myoclonic epilepsies and epilepsies with tonic-clonic seizures on awakening were the best controlled, followed by benign partial epilepsies and in...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(86)80119-x
更新日期:1986-01-01 00:00:00
abstract::A female was diagnosed as a late variant form of infantile Krabbe disease at 1 year and 3 months because of the late onset of regressive clinical course, decreased motor nerve conduction velocities, high cerebrospinal protein concentration and partial deficiency of galactocerebrosidase (15.6%) in the cultured skin fib...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(88)80045-7
更新日期:1988-01-01 00:00:00
abstract::The objective of our study was to determine the relation between the serum level of endotoxin at birth and the development of periventricular leukomalacia (PVL) in preterm infants. We studied 68 preterm infants whose gestational ages ranged between 27 and 33 weeks, and birthweights between 1000 and 2000 g. The serum e...
journal_title:Brain & development
pub_type: 临床试验,杂志文章
doi:10.1016/s0387-7604(99)00036-4
更新日期:1999-09-01 00:00:00
abstract:OBJECTIVE:To evaluate the efficacy and safety of intravenous (i.v.) thiamylal in pediatric magnetic resonance imaging (MRI) sedation. METHODS:Infants and children from 1 month up to 8 years of age who underwent MRI in our hospital between April 2017 and March 2019 were included in this prospective observational study....
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2020.04.005
更新日期:2020-08-01 00:00:00
abstract:BACKGROUND:Cohen syndrome (CS) is a rare multi-system autosomal recessive disorder with a high prevalence in the Finnish population. Clinical features of Finnish-type CS are homogeneous, however, in non-Finnish populations, CS diagnosis is challenging due to broad phenotypic variability. METHODS:We studied a consangui...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2020.04.010
更新日期:2020-09-01 00:00:00
abstract::The purpose of this study is to elucidate the interrelation between the M and F wave characteristics of the median nerve and the grip power in patients with spinal muscular atrophy (SMA). The SMA patients showed decreased amplitudes of the M and F waves, decreased frequency of the F wave, and an increase of the F/M ra...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(97)00098-3
更新日期:1998-01-01 00:00:00
abstract::A 6-month-old girl developed West syndrome and it remitted in association with valproate-induced hepatic dysfunction. Plasma -alanine elevated after valproate hepatotoxicity, which seemed to be a possible cause of remission. The patient has been seizure-free with normal electroencephalogram for 12 months without any a...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(02)00037-2
更新日期:2002-06-01 00:00:00
abstract::Progressive multifocal leukoencephalopathy is a demyelinating disease caused by JC virus, an opportunistic infection of the central nervous system. Although the majority of cases are infected with the human immunodeficiency virus (HIV), other immunocompromised patients are also at risk. Purine nucleoside phosphorylase...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2006.07.008
更新日期:2007-03-01 00:00:00