Abstract：
:We examined seizure, cognitive, and motor outcomes in patients with Rasmussen syndrome or Rasmussen encephalitis (RS), after recent initiation of immunomodulatory therapies. Among 53 patients with a diagnosis of RS referred from all over Japan, 49 patients (male 22, female 27) with symptoms and findings characteristic of RS were evaluated. Regular intravenous immunoglobulin (IVIg) therapy was administered at a dose of 100mg/kg/day, etc. Regular steroid pulse therapy was conducted with methylprednisolone at a dose of 30mg/kg/day (children) or 1000mg/day (adults) for 3days. Tacrolimus was given at an initial dose of 0.1mg/kg/day (children). Mean onset age was 8.7±10.5years. Seizure-free rate was 71% after treatment by functional hemispherectomy (FH), and response rate for seizures was 81% by regular steroid pulse therapy, 42% by tacrolimus therapy, and 23% by regular IVIg therapy. Rate of patients with IQ higher than 80 (R80) was 50% by regular steroid pulse therapy, 43% by regular IVIg therapy, 29% by tacrolimus therapy, and 0% by FH. R80 after regular steroid pulse therapy was 100% in patients without MRI lesions, and 37% in those with advanced MRI lesions. Improvement of motor function (paresis) was observed only by immunomodulatory therapy. Motor function was aggravated in 100% of patients treated by FH, 62% by regular IVIg, and 10% by regular steroid pulse therapy. We suggest a new treatment strategy for RS using early immunomodulatory therapy: initiation of regular steroid pulse therapy after early diagnosis indicated by biomarkers, then switching to tacrolimus therapy after several months.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Takahashi Y,Yamazaki E,Mine J,Kubota Y,Imai K,Mogami Y,Baba K,Matsuda K,Oguni H,Sugai K,Ohtsuka Y,Fujiwara T,Inoue Ydoi
10.1016/j.braindev.2013.01.010subject
Has Abstractpub_date
2013-09-01 00:00:00pages
778-85issue
8eissn
0387-7604issn
1872-7131pii
S0387-7604(13)00069-7journal_volume
35pub_type
杂志文章abstract：BACKGROUND:Hypophosphatasia (HPP) is a rare genetic disorder characterized by rachitic bone manifestations and a low serum alkaline phosphatase (ALP) level. It is caused by mutations in the tissue non-specific alkaline phosphatase (TNSALP) gene, which encodes the tissue non-specific isozyme of ALP. HPP patients exhibit...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2017.07.015
更新日期：2018-02-01 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：:A case of a Reye-like syndrome during the course of treatment with VPA was reported. Hyperammonemia and severe liver damage as well as diffuse small droplets in the liver biopsy material were demonstrated. On analysis by gas chromatography/mass spectrometry of the urine immediately after the onset, the metabolites of ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(83)80029-1
更新日期：1983-01-01 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：OBJECTIVE:Cognitive impairments had been reported in childhood acute lymphoblastic leukemia, what caused the impairments needed to be demonstrated, chemotherapy-related or the disease itself. The primary aim of this exploratory investigation was to determine if there were changes in brain function of children with acut...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2017.04.014
更新日期：2017-10-01 00:00:00
abstract：:Neuromyelitis optica (NMO) is an inflammatory demyelinating disease with a poor prognosis that is characterized by inflammatory optic neuritis and myelitis. Although it is commonly misdiagnosed as multiple sclerosis (MS), distinguishing NMO from MS is important, as therapeutic approaches approved for MS are ineffectiv...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2014.03.015
更新日期：2015-01-01 00:00:00
abstract：:Thirteen to 43% of patients with infantile spasms (IS) have other types of seizures, which are considered a feature of an unfavourable prognosis and, to some extent, as a contra-indication for steroid treatment. The present series comprised 43 patients treated with steroids, who suffered from other types of seizures p...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80311-1
更新日期：1990-01-01 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：:The incidence of West syndrome (WS) was determined by a search of reports of electroencephalograms (EEG) recorded in 1998 and 1999 in all public hospitals in Singapore. Amongst records of patients born in 1998, nine were found with EEG features of hypsarrhythmia or modified hypsarrhythmia with onset of seizures betwee...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(01)00277-7
更新日期：2001-11-01 00:00:00
abstract：:A servo system including a microwave generator was applied to raise a rat's body temperature at a pre-set rate. Using this system the effects of age and the temperature elevation rate upon febrile seizures in rats were studied. The relationship between the brain GABA content and hyperthermia was also studied. From the...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80307-x
更新日期：1990-01-01 00:00:00
abstract：:Pelizaeus-Merzbacher-like disease (PMLD) is a hypomyelinating disorder of the central nervous system caused by mutation in the gap junction protein alpha 12 (GJA12) gene. Uniparental disomy (UPD) is defined as the presence of a chromosome pair, in a diploid individual, that derives from only one parent. Here, we analy...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.03.013
更新日期：2010-03-01 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：:Twelve patients with early infancy onset megalencephaly and leukodystrophy with a mild clinical course are reported. The neuroradiological, clinical, and genetic aspects of this recently recognized familial leukodystrophy syndrome were reviewed. Five were affected siblings, and all patients had consanguineous parents....
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(98)00002-3
更新日期：1998-04-01 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：BACKGROUND:Guillain Barre syndrome (GBS) commonly presents with limb weakness and occasional cranial nerve, respiratory or autonomic involvement. Isolated or predominant bilateral finger drop as presenting feature has never been reported in the pediatric age group. CASE:A 9-year-old boy presented with deformity of bot...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2015.08.004
更新日期：2016-02-01 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：:Angelman syndrome (AS) is a genetic disorder with characteristic clinical and EEG findings. We report here the results of long-term follow-up studies on the epileptic seizures and EEG findings of 23 cases of deletion type AS confirmed by FISH analysis, including seven cases previously reported by Matsumoto et al. in 1...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2004.01.009
更新日期：2005-08-01 00:00:00
abstract：OBJECTIVES:To explore the relationship between autistic regression (AR) with and without EEG abnormalities and favourable outcome. METHODS:Follow up data on children with favourable outcome in a series of 534 cases aged below 5 years and diagnosed as ASD. RESULTS:Cases with regression were 167 (31.8%), usually with p...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.05.004
更新日期：2010-10-01 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：:Sixty patients (age-range one month to 14 years) with other types of epilepsy than infantile spasms were treated with clonazepam. Disappearance of seizures and normalization of abnormal EEG with disappearance of seizures were recognized in 77% and 50%, respectively. Seizures disappeared in 71% of the patients with gen...
journal_title：Brain & development
pub_type： 杂志文章
doi：
更新日期：1985-01-01 00:00:00
abstract：BACKGROUND:Infections are a common cause of childhood stroke with variable presentation. The current case describes a rare infective cause of venous and arterial stroke in an immunocompetent girl with management implications. CASE DESCRIPTION:A 12 year old girl, presented with history of fever for 10 days, painful swe...
journal_title：Brain & development
pub_type：
doi：10.1016/j.braindev.2020.07.016
更新日期：2021-01-01 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:In order to evaluate whether face perception is intact or not in Williams syndrome (WS), the face inversion effects (FIE) in the event-related potential (ERP) or magnetoencephalography (MEG) were investigated in three teenaged patients with WS. METHODS:Responses to the inverted faces and upright faces were c...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.05.010
更新日期：2013-04-01 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：:Typical Cockayne syndrome was seen in a boy and his younger sister and these two cases are reported here, and reported cases of the syndrome in Japan are summarized. Both cases (an 11-year-old boy and a 7-year-old girl) had dwarfism, a senile face, retinitis pigmentosa, photosensitivity, and mental retardation. Calciu...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(79)80046-7
更新日期：1979-01-01 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 electroencephalographic features and their evolutional changes with age were described in three cases of lissencephaly syndrome diagnosed by CT scan. The case with more severe lissencephaly displayed very similar EEG findings. In early or middle infancy when infantile spasms began, EEG showed very high amplitude (...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(79)80042-x
更新日期：1979-01-01 00:00:00
abstract：:The incidence of brain tumors in children under 15 years of age in the United States is 2.4/100,000. Based upon a US population of approximately 60 million black and white children, there are only 1,200-1,500 newly diagnosed causes of CNS neoplasia diagnosed in children each year in the US. These relatively small numb...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(89)80017-8
更新日期：1989-01-01 00:00:00
abstract：:Self-induced seizures by somatosensory stimulation are rare. We describe two epileptic patients with self-induced seizures presumably by peri-orbital somatosensory stimulation. Two infants with severely delayed psychomotor development and poor visual acuity after acute subdural hemorrhage in early infancy had been dia...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2011.11.004
更新日期：2012-09-01 00:00:00
abstract：:Midazolam is a relatively new anticonvulsive agent in the benzodiazepine group. It has a short onset of duration and is practical for use, providing several alternatives such as intravenous, intramuscular, and intranasal routes. The buccal route could be an alternative choice for seizure control in an emergency settin...
journal_title：Brain & development
pub_type： 临床试验,杂志文章
doi：10.1016/s0387-7604(02)00230-9
更新日期：2003-06-01 00:00:00
