Abstract：
PURPOSE:To evaluate the incidence and clinical importance of brain gliomas - optic pathway gliomas (OPGs) and especially gliomas outside the optic pathway (GOOP) for children with neurofibromatosis type 1 (NF1), additionally, to assess the causes of obstructive hydrocephalus in NF1 children with an emphasis on cases caused by idiopathic aqueduct stenosis. SUBJECTS AND METHODS:We analysed data from 285 NF1 children followed up on our department from 1990 to 2010 by the same examination battery. RESULTS:We have found OPGs in 77/285 (27%) children and GOOPs in 29/285 (10,2%) of NF1 children, of who 19 had OPG and GOOP together, so the total number of brain glioma was 87/285 (30,5%). GOOPs were significantly more often treated than OPGs (p > 0.01). OPGs contain clinically important subgroup of 14/285 (4.9%) spreading to hypothalamus. Spontaneous regression was documented in 4/285 (1.4%) gliomas and the same number of NF1 children died due to gliomas. Obstructive hydrocephalus was found in 22/285 (7.7%) patients and 14/22 cases were due to glioma. Idiopathic aqueduct stenosis caused hydrocephalus in 6/22 cases and was found in 2.1% of NF1 children. Two had other cause. CONCLUSIONS:The total brain glioma number (OPGs and only GOOPs together) better reflected the overall brain tumour risk for NF1 children. However, GOOPs occur less frequently than OPGs, they are more clinically relevant. The obstructive hydrocephalus was severe and featuring frequent complication, especially those with GOOP. Idiopathic aqueduct stenosis shows an unpredictable cause of hydrocephalus in comparison with glioma and is another reason for careful neurologic follow up.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Glombova M,Petrak B,Lisy J,Zamecnik J,Sumerauer D,Liby Pdoi
10.1016/j.braindev.2019.04.003subject
Has Abstractpub_date
2019-09-01 00:00:00pages
678-690issue
8eissn
0387-7604issn
1872-7131pii
S0387-7604(18)30485-6journal_volume
41pub_type
杂志文章abstract：:Moyamoya syndrome is a chronic, progressive occlusion of cerebrovascular arteries that leads to the development of characteristic collateral vessels. It is usually accompanied with sickle cell disease and other hemoglobinopathies. We report a 7-year-old boy, who admitted to our clinic with headache, diagnosed as moyam...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2013.07.010
更新日期：2014-06-01 00:00:00
abstract：:Anti-muscle-specific tyrosine kinase antibody (MuSK-Ab) is the second most frequent autoantibody identified in adult patients with myasthenia gravis (MG). Adult patients with MuSK-Ab demonstrate characteristic clinical features but very little information is available for childhood-onset patients with MuSK-positive MG...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2011.12.014
更新日期：2012-10-01 00:00:00
abstract：OBJECTIVE:Epilepsy with continuous spikes and waves during slow sleep (ECSWS) is associated with cognitive deficits. The underlying mechanism is thought to relate to disturbance of functions of the foci by the persistent epileptic activity. However, the relationship between epileptic foci and cognitive deficits remains...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2018.09.005
更新日期：2019-02-01 00:00:00
abstract：:This review presents 21 cases, found in the literature, of a CNS lesion (a tumor in 19 of them) associated with emaciation, anorexia and several psychic symptoms that had led to the diagnosis of anorexia nervosa (AN). Anorexia and psychic disturbances preceded the neurologic signs and/or the correct diagnosis in all p...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/0387-7604(94)90064-7
更新日期：1994-05-01 00:00:00
abstract：BACKGROUND:Carnitine deficiency is relatively common in epilepsy; risk factors reportedly include combination antiepileptic drug (AED) therapy with valproic acid (VPA), young age, intellectual disability, diet and enteral or parenteral feeding. Few studies have examined the correlation between each risk factor and carn...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2014.12.004
更新日期：2015-09-01 00:00:00
abstract：:Eighteen children with diplegic form of cerebral palsy (CP) underwent magnetic resonance imaging (MRI) because of the enlarged occipital horns of both lateral ventricles found on previous computerized tomography (CT). In 16 of them squint was present. MRI in flow attenuated inversion recovery (FLAIR) and turbo spin ec...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(01)00178-4
更新日期：2001-03-01 00:00:00
abstract：:Ninety-nine cases of Rett syndrome (RTT) diagnosed clinically (age range 3 years 6 months to 29 years 9 months) were evaluated for the ability of language. The presence of meaningful words, vocabularies, and ages at the start and disappearance of speech were assessed. Phenotype/genotype correlation was evaluated in 22...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(01)00367-9
更新日期：2001-12-01 00:00:00
abstract：:We report the case of an 11-year-old girl who developed slowly progressive atrophy of the left lower extremity. She suffered from mild dilated cardiomyopathy of unknown cause since 4years of age. When she was 7years old, her family noticed that her left extremity was thinner compared to the right one. Computed tomogra...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.11.005
更新日期：2010-04-01 00:00:00
abstract：:As a treatable cause of CNS dysfunctions in the fetal alcohol syndrome (FAS), low-zinc-status in addition to hypoglycemia has been investigated in experimental rat models. During the premating period female rats of an ethanol group and a control group received 30% ethanol (E) and water (W), respectively. During pregna...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(82)80070-3
更新日期：1982-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2005.12.006
更新日期：2006-08-01 00:00:00
abstract：:We are presenting two cases with subacute sclerosing panencephalitis of acute and rapid form, which were initially diagnosed as acute viral encephalitis. We obtained both diffusion-weighted imaging and magnetic resonance spectroscopy, whose findings suggested the presence of acute inflammatory and metabolic changes wi...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2006.09.013
更新日期：2007-06-01 00:00:00
abstract：:Actinomycosis is a rare, chronic, suppurative, and slowly progressive granulomatous disease caused by a group of filamentous gram-positive anaerobic bacteria belonging to the normal flora of the oral cavity, gastrointestinal, and genitourinary tracts. It may involve several organs; however, spinal cord compression has...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2013.08.002
更新日期：2014-08-01 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：: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：:Several studies have demonstrated the slowing effect of corticosteroids on the decline of muscle strength in Duchenne muscular dystrophy (DMD). Deflazacort (DFC) is supposed to have fewer side effects than prednisone (PRED). An ongoing double blind multicenter study is comparing the effects and side effects of deflaza...
journal_title：Brain & development
pub_type： 临床试验,杂志文章,多中心研究
doi：
更新日期：1995-01-01 00:00:00
abstract：:We performed neurophysiological studies in 12 patients with the Leigh syndrome (6 pathologically confirmed and 6 clinically diagnosed). The results are compared with data derived from a literature survey of 173 Leigh syndrome patients. We found no positive contribution of neurophysiological studies towards the diagnos...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(86)80004-3
更新日期：1986-01-01 00:00:00
abstract：:Head angular stability is essential for postural control in whole body movement. Using the opto-electronic ELITE system, we have studied head orientation during the movements of squatting from the standing position and straightening-up from the squatting position in 12 children with spastic diplegia and 12 age-matched...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(99)00123-0
更新日期：2000-03-01 00:00:00
abstract：:Severe myoclonic epilepsy in infancy (SMEI) is an age-dependent epileptic encephalopathy occurring in the first year of life and is one of the intractable epilepsies. Heterozygous mutations in the voltage-gated sodium channel alpha subunit type1 gene (SCN1A) are frequently identified in patients with SMEI; two-thirds ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2004.11.005
更新日期：2005-09-01 00:00:00
abstract：:Short latency somatosensory evoked potentials (SSEPs) and 99mTc-hexamethylpropylene amine oxime single photon emission computed tomography (99mTc-HMPAO SPECT) were examined in a patient with alternating hemiplegia in infancy (AHI) before and after flunarizine treatment. The low amplitude and elongation of the latency ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(94)90032-9
更新日期：1994-07-01 00:00:00
abstract：AIM:The prevalence of cerebral palsy (CP) has not decreased in developed countries over the past 30 years. We examined gestational age-specific trends in the prevalence of CP. METHODS:This unselected, population-based study was conducted in Miyazaki prefecture, Japan (10,000 deliveries annually), where 102,999 deliver...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2015.10.002
更新日期：2016-04-01 00:00:00
abstract：:It is sometimes difficult to discriminate high functioning pervasive developmental disorders (HFPDD) from attention deficit/hyperactivity disorders (AD/HD) in young children because of the behavioral similarities between the two. For adequate diagnosis, understanding fundamental differences in their social cognitive a...
journal_title：Brain & development
pub_type： 临床试验,杂志文章
doi：10.1016/S0387-7604(03)00170-0
更新日期：2004-08-01 00:00:00
abstract：:The correlation between the functional and morphological maturation of the auditory pathway was studied in preterm and term infants, children and adults. As to the auditory brainstem response (ABR), peak latencies and I-V interpeak latencies (central transmission) gradually decreased during the third trimester and the...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(87)80092-x
更新日期：1987-01-01 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：:Infarct locations in children with arterial ischemic stroke have primarily been reported to be lobar or in the basal ganglia, and those in patients with Down syndrome (DS) and antiphospholipid syndrome (APS) are typically wide and multiple. No solitary brain stem infarctions have ever been reported in children with DS...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2019.02.013
更新日期：2019-06-01 00:00:00
abstract：OBJECTIVE:This study was performed to evaluate the efficacy and safety of intravenous phenobarbital (PB) for benign convulsions with mild gastroenteritis (CwG). METHODS:A randomized, single-blind, placebo-controlled trial involving patients with CwG was conducted at the Japanese Red Cross Society Himeji Hospital. Pati...
journal_title：Brain & development
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.braindev.2019.03.014
更新日期：2019-08-01 00:00:00
abstract：:Eye and brain involvement in congenital muscular dystrophies (CMD) constitute a distinct group with a spectrum of brain malformations. We report two such CMD patients among our series of 58 cases with CMD. Despite known clinical and neuroradiological overlap, we tend to classify them into specific syndromes, though th...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(95)00047-f
更新日期：1995-07-01 00:00:00
abstract：:Recent postmortem studies have suggested that sudden infant death syndrome (SIDS) might involve an underlying, gradual brain stem injury caused by repeated episodes of transiently compromised brain stem circulation. Autopsy studies have also reported that vertebral artery occlusion due to head rotations, such as occur...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(03)00004-4
更新日期：2003-08-01 00:00:00
abstract：:Clobazam was added to the previous antiepileptic drug therapy of 90 children suffering from drug resistant epilepsy. Ten patients became seizure free, although four of these later developed tolerance. Thirty-three patients experienced a decrease in seizure frequency, and 24 of these, too, developed tolerance. Forty-fo...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80025-8
更新日期：1991-05-01 00:00:00
abstract：OBJECTIVE:To clarify changes in clinical practice for infantile spasms, including West syndrome, in Japan over the past two decades. METHODS:We investigated common treatment strategies for infantile spasms among 157 pediatric neurologists from a designated training facility for pediatric neurology and/or a designated ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2018.04.006
更新日期：2018-09-01 00:00:00
abstract：:Generalized lymphatic anomaly is a multifocal lymphatic malformation that affects the skin, thoracic viscera, and bones. A 3year-old Japanese boy presented with right facial palsy due to cystic tumors in the ipsilateral petrous bone. Pericardial effusion had been found incidentally and generalized lymphatic anomaly ha...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2016.12.007
更新日期：2017-05-01 00:00:00
