Abstract：
:Serial cranial ultrasound examinations were performed through the anterior fontanel to detect and follow the complications of bacterial meningitis in 16 neonates. The final results included normal findings in 9 patients, and abnormal in the other 7 cases. Among the latter, 5 patients with hydrocephalus were sequentially found after the second week of the disease and the earlier the onset, the larger the ventricular dilation. One ventriculitis showed polycystic loculi with abnormal septa in the advanced stage. Cystic low attenuation lesion with mass effect at a later stage of meningitis specified one patient with brain abscess. Progressive dilatation of ventricular systems without associated growth of head girth disclosed a process of brain atrophy. They had neither obvious neurological signs nor specific CSF findings clinically, but their sonograms showed the abnormal changes which were finally proved by CT scans. The potential value of cranial ultrasound in the detection of post-meningitic complication besides CT scan is stressed.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Hung KLdoi
10.1016/s0387-7604(86)80117-6subject
Has Abstractpub_date
1986-01-01 00:00:00pages
31-6issue
1eissn
0387-7604issn
1872-7131pii
S0387-7604(86)80117-6journal_volume
8pub_type
杂志文章abstract：:Learning disorders of various types are relatively common, and the reaction of the affected child can lead to social problems. The higher the children's intelligence the more frustrated they can become. Lack of self-esteem can cause unacceptable behaviour in trying to counteract this, and boost the child's confidence....
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/0387-7604(93)90060-l
更新日期：1993-05-01 00:00:00
abstract：:Although hypothalamic hamartomas (HHs) have been shown to be intrinsically epileptogenic and to participate in the generation of gelastic seizures, no evidence has been reported regarding its contribution to the pathogenesis of infantile spasms. We describe a male infant with Pallister-Hall syndrome who had a large HH...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.09.003
更新日期：2010-09-01 00:00:00
abstract：:Phelan-McDermid syndrome (PMS) is a 22q13.3 deletion syndrome. Most PMS patients show global developmental delay and some of them suffer from developmental regression. The deleted region contains ARSA, which is responsible for metachromatic leukodystrophy (MLD). Here we report an extremely rare case of PMS characteriz...
journal_title：Brain & development
pub_type：
doi：10.1016/j.braindev.2020.02.003
更新日期：2020-05-01 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：:Seventeen normal term infants delivered at the Jikei University School of Medicine were placed daily on a pedoscope in the supine and prone position after birth, and the movement of the gravity center and changes in the activities of the extremities were assessed. The results indicated that both the activity of the ex...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(86)80118-8
更新日期：1986-01-01 00:00:00
abstract：:Amongst the motor, mental, cognitive and emotional symptoms of the Rett syndrome (RS) the motor symptoms stand out as the hallmark in analyzing the essential pathophysiology. Summarizing the motor symptoms and searching into the knowledge of relevant basic sciences, this report aims at stressing the pathophysiological...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：
更新日期：1992-05-01 00:00:00
abstract：:Neonatal focal cerebral arterial infarction has been rarely reported in the literature, in contrast to the watershed infarctions, which are common entities among asphyxiated infants. In neonatal postmortem series, thromboembolism was the commonest cause of cerebral arterial occlusion; the source of emboli was associat...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80344-5
更新日期：1992-11-01 00:00:00
abstract：:A 2-month-old Japanese girl exhibited tonic seizure, agenesis of the corpus callosum, lacunar chorioretinopathy, vertebral anomalies, electroencephalographic abnormalities and a malignant tumor. Autopsy revealed a hepatoblastoma and severe brain malformations consisting of callosal agenesis, arhinencephaly, marked pol...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(85)80119-4
更新日期：1985-01-01 00:00:00
abstract：OBJECTIVES:Preterm children with severe dyskinetic cerebral palsy due to bilirubin encephalopathy often suffer from marked generalised hypertonus as they age. We performed a questionnaire survey to investigate patient-reported outcomes of treatments for improving their activities of daily life. METHODS:A mail question...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2020.01.006
更新日期：2020-04-01 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：:We present the clinical and neuropathological findings in a female patient with early onset Cockayne syndrome and a chromosomal anomaly (47XXX). The girl was the only child of healthy, unrelated parents. She was born with a birth weight of 1,930 gm. She had progeroid facial features with bilateral cataracts. A diagnos...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80282-8
更新日期：1992-01-01 00:00:00
abstract：:Penicillin (PC) neurotoxicity (convulsions and encephalopathy) is considered to be due to GABAergic inhibition. The effects of penicillin G(PCG) on [3H]flunitrazepam (FNZ) binding in rat neuron-enriched primary cultures was examined to assess the role of the benzodiazepine (BDZ) receptor in the neurotoxicity. PCG appl...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(93)90121-n
更新日期：1993-09-01 00:00:00
abstract：BACKGROUND:Alexander disease (AxD) is a rare fatal leukodystrophy caused by a dominant missense mutation in the glial fibrillary acidic protein. In a mouse model of AxD, the pathological astrocyte causes a pronounced immune response. The inflammatory environment in the brain might play an important role in the neuronal...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2019.07.010
更新日期：2020-01-01 00:00:00
abstract：:Mutations in the methyl-CpG-binding protein 2 gene (MECP2) are identified in the majority of females with Rett syndrome (RTT), an X-linked dominant neurodevelopmental disorder. We searched for mutations by sequencing the MECP2 coding region in 45 sporadic cases (35 with classic RTT, eight with variant forms and two ma...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(01)00339-4
更新日期：2001-12-01 00:00:00
abstract：:Serial polygraphic recordings of two to three hours duration were made in five full-term newborns with trisomy 18 and one full-term newborn with trisomy 13 syndrome. The newborns with 18 trisomy syndrome were poor sleepers with long periods of wakefulness and/or drowsiness. There were no consistent abnormalities in th...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(79)80029-7
更新日期：1979-01-01 00:00:00
abstract：:A 10-year-old male patient, who had suffered from intractable convulsions from the neonatal period, is presented. Serial brain images suggested slow, gradual destruction of neural elements. Human cytomegalovirus (HCMV) DNA was detected in his cerebrospinal fluid (CSF) by means of the polymerase chain reaction. Intrath...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(93)90086-n
更新日期：1993-11-01 00:00:00
abstract：BACKGROUND:Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder associated with spinal motor neuron loss and characterized by generalized muscle weakness. Only a few reports exist on SMA epidemiology in Japan. Additionally, nusinersen recently became available as a treatment for this condition. We estim...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2020.05.004
更新日期：2020-09-01 00:00:00
abstract：:We report herein the case of a 9-year-old girl with life-threatening hyperkinetic involuntary movement of unknown etiology. Medical treatment was ineffective for her stereotypy and choreoathetotic/ballistic movements, but bilateral stimulation of the globus pallidus immediately alleviated these symptoms. Pallidal deep...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2008.08.003
更新日期：2009-06-01 00:00:00
abstract：:Molybdenum cofactor deficiency is a rare and devastating disease leading to intractable seizures in the neonatal period. Severe loss of neocortical neurons, gliosis, and cystic necrosis of cerebral white matter resulting in significant cerebral volume loss are the neuropathological findings. The mechanism of cerebral ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(01)00316-3
更新日期：2001-12-01 00:00:00
abstract：:Hyperprolinemia type I (HPI) results from a deficiency of proline oxidase (POX), involved in the first step in the conversion of proline to glutamate. Diverse phenotypes were described in patients with HPI, prior to the identification of the POX gene (PRODH): whereas various patients were asymptomatic, others had neur...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2007.01.008
更新日期：2007-10-01 00:00:00
abstract：:Many benzodiazepines used as anticonvulsants have nitrogen radicals in positions 1 and 4. Clobazam has nitrogen radicals in positions 1 and 5. We studied the antiepileptic effect of clobazam in 36 patients with intractable epilepsies in childhood. Their ages were 1 year 1 month to 16 years 5 months (mean 8 years). The...
journal_title：Brain & development
pub_type： 临床试验,杂志文章
doi：10.1016/s0387-7604(82)80102-2
更新日期：1982-01-01 00:00:00
abstract：:The purpose of this study was to clarify the risk factors of relapse following discontinuation of AEDs in patients with childhood-onset cryptogenic localization-related epilepsies. The subjects were 82 patients who fulfilled the following criteria: (1) age at first visit of less than 15 years, (2) follow-up period of ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(03)00089-5
更新日期：2004-01-01 00:00:00
abstract：INTRODUCTION:Filamin A (FLNA) is located in Xq28, and encodes the actin binding protein, filamin A. A mutation in FLNA is the most common cause of periventricular nodular heterotopia (PVNH), but a clear phenotype-genotype correlation has not been established. Indeed, some patients with a FLNA mutation have recently bee...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2018.01.010
更新日期：2018-06-01 00:00:00
abstract：:Molecular background of neurogenetic disease is briefly reviewed. Importance and usefulness of genetic testing are emphasized. Molecular genetics is a powerful tool for investigation of epileptic syndromes. Diagnosis based on gene analysis will give a new insight for pathophysiology and clinical outcome of the patient...
journal_title：Brain & development
pub_type： 历史文章,杂志文章,评审
doi：10.1016/j.braindev.2011.01.007
更新日期：2011-10-01 00:00:00
abstract：:Organic acidemias (OAs) have been detected worldwide in symptomatic patients using gas chromatography mass spectrometry. We diagnosed 188 Asian cases of OAs by analysis of urinary organic acids and investigated their clinical onset and outcome. Methylmalonic acidemia (MMA) was most common (74 cases), followed by propi...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2004.04.004
更新日期：2005-01-01 00:00:00
abstract：:We report on the clinical, neuropathological, and genetic findings of a Japanese case with myocerebrohepatopathy spectrum (MCHS) disorder due to polymerase gamma (POLG) mutations. A girl manifested poor sucking and failure to thrive since 4 months of age and had frequent vomiting and developmental regression at 5 mont...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2014.10.013
更新日期：2015-08-01 00:00:00
abstract：:Griscelli syndrome is a rare autosomal-recessive disorder characterised by partial albinism, immunodeficiency, organomegaly and accelerated phases. During accelerated phases, pancytopenia, haemophagocytosis, hypoproteinemeia occur which may be accompanied by neurological deterioration. Primary neurological presentatio...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2006.09.007
更新日期：2007-05-01 00:00:00
abstract：:The association between measurements of lateral ventricle dilatation determined by serial ultrasound and brain specific creatine-kinase isoenzyme patterns (CK-BB) is studied in 60 very low birth weight preterm neonates of 1,500 g birth weight or 32 weeks gestation or less. The patients were divided into three groups a...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80234-8
更新日期：1992-07-01 00:00:00
abstract：:In a patient with holoprosencephaly, partial seizures had various initial ictal symptoms, and ictal EEGs showed epileptogenic foci in the right and left brain. Partial seizures did not culminate in secondary generalized tonic-clonic convulsions. Characteristic malformed structures contribute to the absence of secondar...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(01)00217-0
更新日期：2001-07-01 00:00:00
abstract：:MeCP2 is a protein that selectively binds to methylated cytosines through its methyl-CpG-binding domain (MBD) and connects DNA methylation to transcriptional repression. Mutations in MECP2 gene, located in Xq28, have been reported as being the major cause of Rett syndrome and are also associated with some cases of X-l...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2006.09.012
更新日期：2007-06-01 00:00:00
