Abstract：
:Idiopathic hypereosinophilic syndrome (IHES) is a rare disorder affecting cardiac, pulmonary and nervous systems with peripheral neuropathy, encephalopathy and cerebral thromboembolism. We report a 7-year-old boy with IHES who developed central sinovenous thrombosis and cerebral hemorrhage. Although he had hypereosinophilia for more than 6 months, he was asymptomatic until the sudden onset of vomiting and headache due to superior sagittal sinus thrombosis. Molecular analysis in peripheral blood did not reveal any mutation in the Fip1-like-platelet-derived growth factor receptor alpha chain (FIP1L1-PDGFRA) gene which was recently reported to be mutated in IHES. Since there must be symptoms or signs of organ involvement to fulfill the IHES criteria, we could not make a diagnosis of IHES until the onset of central nervous system involvement. We suggest that anti-coagulant therapy should be considered for asymptomatic patients with hypereosinophilia because hypereosinophilia may induce thrombosis in various organs.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Sakuta R,Tomita Y,Ohashi M,Nagai T,Murakami Ndoi
10.1016/j.braindev.2006.08.004subject
Has Abstractpub_date
2007-04-01 00:00:00pages
182-4issue
3eissn
0387-7604issn
1872-7131pii
S0387-7604(06)00179-3journal_volume
29pub_type
杂志文章abstract：:Two brothers, offspring of an Arab inbred family suffered from both mucolipidosis III (ML-III) and Bardet-Biedl syndrome (BBS). Other members of this family were affected either with ML-III, or with BBS. It seems that this unique combination is probably coincidental. ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80072-6
更新日期：1990-01-01 00:00:00
abstract：:Hypoxia-inducible transcription factors (HIF)-1 and HIF-2, composed of an oxygen-dependent alpha-subunit and a constitutive beta-subunit, have been characterized as the most important regulators of oxygen homeostasis during physiological and pathological conditions. During embryonic, fetal and postnatal brain developm...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/j.braindev.2009.03.007
更新日期：2009-08-01 00:00:00
abstract：OBJECTIVES:This study was performed to evaluate the efficacy and tolerability of lacosamide (LCM) for paroxysmal kinesigenic dyskinesia (PKD) in children. METHODS:We retrospectively reviewed the medical charts of pediatric PKD patients (aged <16 years) treated with LCM. Data regarding demographic characteristics, prol...
journal_title：Brain & development
pub_type：
doi：10.1016/j.braindev.2020.04.009
更新日期：2020-09-01 00:00:00
abstract：:We describe a 14-month-old girl who presented with arterial ischemic stroke due to moyamoya disease, unilateral renal agenesis and external iliac artery stenosis. The association of moyamoya disease with renal agenesis and external iliac artery stenosis has not been described before. This report expands the spectrum o...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.09.011
更新日期：2011-08-01 00:00:00
abstract：PURPOSE:The study aims to detect the polymorphisms in uridine diphosphate glucuronyl transferase (UGT) 2B7∗2 and investigate the corresponding effects on the blood concentrations of valproic acid (VPA) and carbamazepine (CBZ). METHODS:A chemiluminescence immunoassay analyzer was used to detect the plasma concentration...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2017.09.004
更新日期：2018-02-01 00:00:00
abstract：:We previously reported that knockout mice lacking the p85alpha regulatory subunit of phosphoinositide-3 kinase (PI3K) (p85alpha(-/-) mice) significantly showed spatial learning-deficits, restlessness and motivation-deficit in water maze tests. It was also shown in the report that decline of PI3K activity in several br...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2008.04.006
更新日期：2009-01-01 00:00:00
abstract：:Muscle ultrasound scanning is a non-invasive and painless technique for evaluating muscle disorders in childhood. We have performed ultrasound scans of the quadriceps muscle in 26 children with various forms of congenital muscular dystrophies. There were 8 patients clearly showing selective involvement within the comp...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80091-x
更新日期：1992-03-01 00:00:00
abstract：:The syndrome of brain atrophy in girls described by Andreas Rett in 1966 [Rett, Wien Klin Wochenschr, 1966;116:723-726] was brought to the attention of the English-speaking world by Hagberg et al. in 1983 [Hagberg et al., Ann Neurol, 1983;14:471-479]. Four clinical stages after the age of 6 months were described in cl...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(01)00335-7
更新日期：2001-12-01 00:00:00
abstract：:This study examined paroxysmal abnormalities and epilepsy in EEG for individuals with pervasive developmental disorders (PDD) in two parts: first with a large number of subjects (n=1624); and second with extracted subjects followed from 5 years into adolescence and beyond (n=92). Many paroxysms in PDD patients in thei...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.06.004
更新日期：2010-10-01 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：:The aim of this study is to determine the efficacy of prophylactic treatment for patients with febrile convulsions (FCs) in whom electroencephalograms (EEGs) revealed epileptiform discharges. We retrospectively investigated 43 patients who met the following criteria: (a) at least one FC during the study period; (b) ep...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/S0387-7604(03)00161-X
更新日期：2004-06-01 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：: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：: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：:A 2-yr-3-mo-old girl with metachromatic leukodystrophy (MLD) was examined using serial multiple electrophysiological procedures. Sensory nerve conduction velocity was delayed earlier and more severely than motor nerve conduction velocity. Visual evoked potentials (VEPs) showed prolonged latency of wave IV. Auditory br...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(85)80141-8
更新日期：1985-01-01 00:00:00
abstract：BACKGROUND:Few studies have targeted psychomotor development and associated perinatal risk factors in Japanese very low birth weight (VLBW) infants who are severely small for gestational age (SGA). DESIGN/SUBJECTS:A single-center study was conducted in 104 Japanese VLBW infants who were born preterm, due to maternal, ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2015.07.008
更新日期：2016-02-01 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
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：AIM:To report on two children with encephalopathy caused by dietary thiamine deficiency due to newly developing nutritional problems in contemporary Japan. SUBJECTS:A 1-year-old boy who had consumed 1l of isotonic drinks per day for 4 months after an episode of diarrhea, and presented with ocular movement disorder, dy...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.08.004
更新日期：2010-08-01 00:00:00
abstract：OBJECTIVE:Very preterm (VP) children are at risk for social difficulties, including autism spectrum disorder (ASD). This study used eye tracking to determine viewing behaviors that may reflect these difficulties. DESIGN:The gaze patterns of 47 VP (mean gestational age: 28weeks, mean birth weight: 948g, and mean chrono...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2016.10.001
更新日期：2017-03-01 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：:We report the case of a boy with myoclonic epilepsy with ragged-red fibers (MERRF) who had astatic seizures since 2 years of age and later developed ataxia, absence seizures, and myoclonus. Almost homoplasmic A8344G mutation of mitochondrial DNA (m.8344A>G mutation) was detected in lymphocytes. He developed late-onset...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.08.006
更新日期：2013-06-01 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：BACKGROUND:Epilepsy is a common chronic disorder in pediatric neurology. Nowadays, a variety of antiepileptic drugs (AEDs) are available. A scientific method designed to evaluate the effectiveness of AEDs in the early stage of treatment has not been reported. PURPOSE:In this study, we try to use quantitative EEG (QEEG...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2017.07.004
更新日期：2018-01-01 00:00:00
abstract：:Six boys affected by acquired encephalopathy with an abnormal breathing pattern in wakefulness were studied. Polygraphic recordings showed two different patterns in our population. In two brothers a periodic breathing pattern was recorded in the awake and sleep states. In the others, central apneas with or without tac...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80180-x
更新日期：1990-01-01 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：:Although a large amount of cholesterol is known to be needed for brain maturation and differentiation, cholesterol metabolism during these periods remains unclear. To elucidate the developmental regulation of cholesterol metabolism in the brain, we investigated the expression of 3-hydroxy-3-methyglutaryl-coenzyme A (H...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(00)00129-7
更新日期：2000-08-01 00:00:00
abstract：OBJECTIVE:The aim of this study was to develop and introduce new method to quantify motor functions of the upper extremity. METHODS:The movement was recorded using a three-dimensional motion capture system, and the movement trajectory was analyzed using newly developed two indices, which measure precise repeatability ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2017.12.003
更新日期：2018-03-01 00:00:00
abstract：:Infantile myositis, observed in the neonatal period, is rare and may be confused with congenital muscular dystrophy. The patient presented here showed evidence of a myopathy with in utero onset with intrauterine growth retardation and decreased fetal movements. A muscle biopsy demonstrated characteristic perifascicula...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(96)00049-6
更新日期：1996-09-01 00:00:00
abstract：:To determine the effect of flunarizine therapy on patients with alternating hemiplegia of childhood (AHC), we sent a questionnaire by mail to council members of the Japanese Society of Child Neurology. We collected 28 AHC patients, and studied their clinical courses and the effects of drug therapy. All of the patients...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(01)00229-7
更新日期：2001-08-01 00:00:00
