Renal agenesis and external iliac artery stenosis in an infant with moyamoya disease.

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

authors： Sugimoto T,Nishida N,Yasuhara A,Ono A,Sakane Y,Matsumura T

更新日期：1983-01-01 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

authors： Li M,Hao XY,Qing J,Wu XR

更新日期：1996-05-01 00:00:00

abstract：:Congenital cerebellar ataxia is usually thought to be of cerebellar origin. We report two children with congenital cerebellar ataxia, in whom neuroimaging investigations suggest the possibility of a parietal etiology. The two boys showed hypotonia, delayed motor and cognitive development followed by marked, truncally ...

journal_title：Brain & development

authors： Steinlin M,Schmitt B,Ferrini B

更新日期：1998-06-01 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

authors： Imai T,Saito M,Matsumoto H,Ishikawa Y,Ishikawa Y,Minami R

更新日期：1998-01-01 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

authors： Zhang H,Zhang W,Li Y,Yan J,Zhang J,Wang B

更新日期：2018-02-01 00:00:00

abstract：:The aim of this study is to clarify the characteristics of ictal EEG findings of neonatal seizures in preterm infants. Seizures associated with ictal EEG changes were recognized in nine infants with gestational age of less than 37 weeks. Propagation, migration, shifting, changes in morphology of ictal EEG discharges w...

journal_title：Brain & development

authors： Okumura A,Hayakawa F,Kato T,Itomi K,Maruyama K,Kubota T,Suzuki M,Kidokoro H,Watanabe K

更新日期：2008-04-01 00:00:00

abstract：PURPOSE:Fukuyama congenital muscular dystrophy (FCMD) is a congenital muscular dystrophy rarely reported outside Japan. Here, we report three patients with Fukuyama congenital muscular dystrophy (FCMD) in China who shared a similar clinical phenotype and 3-kb insertion in the FKTN 3' untranslated region. METHODS:Immun...

journal_title：Brain & development

authors： Yang H,Kobayashi K,Wang S,Jiao H,Xiao J,Toda T,Wu X,Xiong H

更新日期：2015-10-01 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

authors： Ahn H,Seo GH,Keum C,Heo SH,Kim T,Choi J,Yum MS,Lee BH

更新日期：2020-05-01 00:00:00

abstract：:MPS type II (Hunter disease) results from deficiency of the lysosomal enzyme iduronate-2-sulfate sulfatase. Two forms of the disease have been recognized, based on absence or presence of progressive intellectual deterioration. This study aimed to assess activities of daily life (ADL) in 27 Hunter disease-affected Japa...

journal_title：Brain & development

authors： Kato T,Kato Z,Kuratsubo I,Ota T,Orii T,Kondo N,Suzuki Y

更新日期：2007-06-01 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

authors： Parvaneh N,Ashrafi MR,Yeganeh M,Pouladi N,Sayarifar F,Parvaneh L

更新日期：2007-03-01 00:00:00

abstract：:A case of precocious puberty due to postmeningitic hydrocephalus was presented. Concentrations of serum gonadotropins and estradiol were found to be elevated, and the response of LH to LHRH was also high, similar to that in the late pubertal stage. CT scanning demonstrated marked dilatation of the third ventricle. It ...

journal_title：Brain & development

authors： Tomono Y,Maki Y,Ito M,Nakada Y

更新日期：1983-01-01 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

authors： Kora K,Kato T,Ide M,Tanaka T,Yoshida T

更新日期：2020-01-01 00:00:00

abstract：:In order to study the validity of disintegrative psychosis (DP) as defined in ICD-9, we compared the natural history of somatic morbidity of 13 patients given this diagnosis in childhood with a control group of 39 patients with infantile autism (IA) matched for gender, age, IQ and social class. Average follow-up time ...

journal_title：Brain & development

authors： Mouridsen SE,Rich B,Isager T

更新日期：1999-10-01 00:00:00

abstract：:Becker muscular dystrophy (BMD) was diagnosed in a male patient with Klinefelter's syndrome (47, XXY karyotype). The BMD was confirmed by (i) immunohistological methods and Western blotting, showing decreased quantity of dystrophin in muscle biopsy specimen and (ii) molecular genetic analysis which demonstrated a homo...

journal_title：Brain & development

authors： Zeitoun O,Ketelsen UP,Wolff G,Müller CR,Korinthenberg R

更新日期：1997-07-01 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

authors： Sekigawa-Hosozawa M,Tanaka K,Shimizu T,Nakano T,Kitazawa S

更新日期：2017-03-01 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

authors： Imamura A,Komori Y,Fukutomi O,Shimozawa N,Suzuki Y,Kondo N,Orii T

更新日期：1994-07-01 00:00:00

abstract：:The neuropathological examination of the brain of a 4-month-old girl with Aicardi syndrome (infantile spasms, chorioretinal lacunae, psychomotor retardation, agenesis of the corpus callosum and vertebral anomalies) showed agenesis of the corpus callosum, agenesis of the anterior commissure and abnormal orientation of ...

journal_title：Brain & development

authors： Ferrer I,Cusí MV,Liarte A,Campistol J

更新日期：1986-01-01 00:00:00

abstract：:Somatomotor cortex of mice with microcephaly induced by DNA polymerase inhibitor cytosine arabinoside (Ara-C), has been studied with a modified Golgi-Cox staining and a HRP retrograde tracing method. Microcephalic mice were prepared by prenatal injections of cytosine arabinoside on days 13.5 and 14.5 of pregnancy. Cyt...

journal_title：Brain & development

authors： Ohno M

更新日期：1984-01-01 00:00:00

abstract：:An unique cytoplasmic inclusion was found in astrocytes of a 2-month-old female baby who showed Leigh-like brain lesions with lactic acidosis, hypoglycemia and hepatomegaly. Although a defective enzyme was not determined, a metabolic disorder was suggested from clinicopathological observations. Symmetrically distribut...

journal_title：Brain & development

authors： Yamamoto T,Armstrong D,Shibata N,Kato Y,Kobayashi M

更新日期：2000-06-01 00:00:00

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

authors： Komur M,Unal S,Okuyaz C,Ozgur A

更新日期：2014-06-01 00:00:00

abstract：:Wolf-Hirschhorn syndrome (WHS) is associated with partial deletion of short arm of chromosome 4, and characterized by severe growth retardation. Other characteristic features are microcephaly, intellectual handicap, Greek helmet facies and closure deficits such as cleft lip or cleft palate, coloboma of the eye, and ca...

journal_title：Brain & development

authors： Tutunculer F,Acunas B,Hicdonmez T,Deviren A,Pelitli V

更新日期：2004-04-01 00:00:00

abstract：:To investigate the development of the voluntary control of saccadic eye movement, we examined eye movements in 99 normal children (4-13 years of age). Subjects were asked to fixate a central light for 3-5 s. A target was then presented, either to its right or left. In visually guided saccades, the mean latencies of th...

journal_title：Brain & development

authors： Fukushima J,Hatta T,Fukushima K

更新日期：2000-05-01 00:00:00

abstract：AIM:We aimed to establish objective and quantitative data on fine motor development in typically developing children using magnetic sensors. METHODS:The study included 110 Japanese elementary school children volunteers (57 boys, 53 girls). The participants were instructed to tap their thumbs and index fingers together...

journal_title：Brain & development

authors： Enokizono T,Ohto T,Tanaka M,Maruo K,Sano Y,Kandori A,Takada H

更新日期：2020-06-01 00:00:00

abstract：INTRODUCTION:Chilaiditi syndrome is a rare pathophysiology in which the colon or other organs are interposed between the diaphragm and liver, and respiratory or digestive symptoms sometimes manifest. Although there have been some cases of Chilaiditi syndrome complicating neuromuscular disorders, none have described res...

journal_title：Brain & development

authors： Ogasawara M,Ishiyama A,Sugiura A,Segawa K,Nonaka I,Takeshita E,Shimizu-Motohashi Y,Komaki H,Sasaki M

更新日期：2018-04-01 00:00:00

abstract：:We examined the specific nerve conduction deficits distinguishing spinal muscular atrophy (SMA) subtypes I and II. Five SMA I patients (age, 0.2-1.1 years) and 10 SMA II patients (age, 1.0-2.8 years) were examined. Patients were compared to age-matched controls for motor and sensory conduction velocity (MCV and SCV) c...

journal_title：Brain & development

authors： Yonekawa T,Komaki H,Saito Y,Sugai K,Sasaki M

更新日期：2013-02-01 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

authors： Arslanoglu S,Yalaz M,Gökşen D,Coker M,Tütüncüoglu S,Akisu M,Darcan S,Kultursay N,Ciriş M,Demirtaş E

更新日期：2001-12-01 00:00:00

abstract：:Two cases of status epilepticus are reported, whose seizures responded well to the injection of flunitrazepam. One patient had generalized tonic clonic seizures and the other had partial seizures. The improvement of their condition was confirmed by both clinical and electroencephalographic examinations. There were no ...

journal_title：Brain & development

authors： Ono J,Mimaki T,Tagawa T,Tanaka J

更新日期：1988-01-01 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

authors： Okamoto K,Motoki T,Saito I,Urate R,Aibara K,Jogamoto T,Fukuda M,Wakamoto H,Maniwa S,Kondo Y,Toda Y,Goji A,Mori T,Soga T,Konishi Y,Nagai S,Takami Y,Tokorodani C,Nishiuchi R,Usui D,Ando R,Tada S,Yamanishi Y,Na

更新日期：2020-09-01 00:00:00

abstract：:In 1908 a Viennese remedial educator Theodor Heller described six children under the name of dementia infantilis who had insidiously developed a severe mental regression between the 3rd and 4th years of life after normal mental development. Neuropathological and other medical conditions are sometimes associated with t...

journal_title：Brain & development

authors： Mouridsen SE

更新日期：2003-06-01 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

authors： Kutlu NO,Dogrul M,Yakinci C,Soylu H

更新日期：2003-06-01 00:00:00