Hyperkinetic movement disorder in a child treated by globus pallidus stimulation.

abstract：:Sphingolipidoses are a subgroup of lysosomal storage diseases. They are defined as disorders caused by a genetic defect in catabolism of sphingosine-containing lipids. Catabolism of these lipids involves enzymes and activator proteins. After the discovery of lysosomes by de Duve and the demonstration of the first defe...

journal_title：Brain & development

authors： Ozkara HA

更新日期：2004-12-01 00:00:00

abstract：:Oxidative stress plays an important role in cystic periventricular leukomalacia (PVL). We performed a case-control study of preterm infants delivered at <35 weeks of gestation between January 2003 and December 2006. Patients were stratified into three groups, according to age at which cysts were initially identified: ...

journal_title：Brain & development

authors： Kakita H,Hussein MH,Yamada Y,Henmi H,Kato S,Kobayashi S,Ito T,Kato I,Fukuda S,Suzuki S,Togari H

更新日期：2009-10-01 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：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

authors： Kodama Y,Sameshima H,Ikenoue T

更新日期：2016-04-01 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：OBJECTIVES:Defects in DNA damage responses or repair mechanisms cause numerous rare inherited diseases, referred to as "DNA-repair defects" or "DNA damage deficiency", characterized by neurodegeneration, immunodeficiency, and/or cancer predisposition. Early accurate diagnosis is important for informing appropriate clin...

journal_title：Brain & development

authors： Kashimada A,Hasegawa S,Nomura T,Shiraku H,Moriyama K,Suzuki T,Nakajima K,Mizuno T,Imai K,Sugawara Y,Morio T,Kumada S,Takagi M

更新日期：2019-02-01 00:00:00

abstract：:The present study was undertaken to clarify how we should assess the necessity of close follow-up in each case, when we first examine an infant with ankle clonus within the first year of life. The neurologic prognoses of 169 infants who had exhibited ankle clonus at least once during the first year of life were review...

journal_title：Brain & development

authors： Futagi Y,Otani K,Goto M

更新日期：1997-01-01 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

authors： Dunn HG

更新日期：2001-12-01 00:00:00

abstract：BACKGROUND:Epilepsy with myoclonic absences (EMA) is a rare childhood-onset syndrome characterized by absences of responsiveness accompanied by bilateral rhythmic clonic-like myoclonic jerks. Herein, we describe the case of a child with EMA, resistant to multiple commonly used antiepileptic drugs, in whom low-dose phen...

journal_title：Brain & development

authors： Ito S,Nagumo K,Nishikawa A,Oguni H,Nagata S

更新日期：2021-01-15 00:00:00

abstract：:We report an autopsy case of bathtub drowning in epilepsy. A 26-year-old female with mental retardation had been treated for refractory epilepsy. Her younger sister found her floating supine in the bathtub 45 min after starting bathing. Neuropathological examination revealed cerebral cortical dysplasia in the precentr...

journal_title：Brain & development

authors： Osamura T,Fushiki S,Yoshioka H,Yamanaka T,Mizuta R

更新日期：1997-11-01 00:00:00

abstract：:Autism spectrum disorders (ASD) are manifest as impairments in social interaction, language and speech development, and the appearance of repetitive behaviors with restricted interests. Motor impairments in individuals with ASD have been categorized as "associated symptoms". The objective of this study was to describe...

journal_title：Brain & development

authors： Ming X,Brimacombe M,Wagner GC

更新日期：2007-10-01 00:00:00

abstract：:The occurrence of seizures in patients with fragile X syndrome (Fra-X) is reported. Among the 30 patients, six had epilepsy that was particularly severe and two also showed atypical facial dysmorphism that was different from that seen in classical Fra-X. From the study performed in this series of Fra-X patients the au...

journal_title：Brain & development

authors： Incorpora G,Sorge G,Sorge A,Pavone L

更新日期：2002-12-01 00:00:00

abstract：:Magnetic resonance (MR) findings in cases of total asphyxia, whose lesions are mainly in the brainstem and deep nuclei, have not been clarified. In this study, we investigated MR images in neonates with total asphyxia. MR images of six infants (three males and three females; gestational age, 35-39 weeks; birth weights...

journal_title：Brain & development

authors： Sugiura H,Kouwaki M,Kato T,Ogata T,Sakamoto R,Ieshima A,Yokochi K

更新日期：2013-01-01 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

authors： Furukawa G,Negishi Y,Takeuchi T,Ishihara N,Okumura A

更新日期：2020-09-01 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

authors： Hung PC,Wang HS,Chiu CH,Wong AM

更新日期：2014-08-01 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:Rapid-onset dystonia-parkinsonism (RDP) is a disease characterized by an abrupt onset of dystonia accompanied by signs of parkinsonism and prominent bulbar symptoms. CASE REPORT:We describe a case of a female patient, born after normal delivery, but diagnosed with mild intellectual disability at age 7. She ...

journal_title：Brain & development

authors： Nomura S,Kashiwagi M,Tanabe T,Oba C,Yanagi K,Kaname T,Okamoto N,Ashida A

更新日期：2021-01-12 00:00:00

abstract：:To better define the characteristic clinical features of benign convulsions with mild gastroenteritis, recently recognized as a new entity in Japan, we reviewed all the 10 patients we have seen from 1992 to 1994. The clinical features have been previously reported in the literature to be afebrile generalized tonic-clo...

journal_title：Brain & development

authors： Komori H,Wada M,Eto M,Oki H,Aida K,Fujimoto T

更新日期：1995-09-01 00:00:00

abstract：:A case of the rare juvenile form of Kearns-Shy syndrome with progressive external ophthalmoplegia and lid ptosis, carditis, skeletal muscle weakness, seizures, mental subnormality, short stature, EEG abnormality and deafness is presented. Electromyography revealed a myopathic pattern. Histochemical studies on quadrice...

journal_title：Brain & development

authors： Yoda S,Terauchi A,Kitahara F,Akabane T

更新日期：1984-01-01 00:00:00

abstract：:Neuroimaging findings are usually normal in children with benign partial epilepsy in infancy. However, we found a transient reduction of water diffusion in the corpus callosum in two patients with probable benign partial epilepsy in infancy. The patients were admitted to our hospital because of seizure clusters. No de...

journal_title：Brain & development

authors： Okumura A,Abe S,Hara S,Aoyagi Y,Shimizu T,Watanabe K

更新日期：2010-08-01 00:00:00

abstract：:MRI appearance of Sturge-Weber Syndrome (SWS) in patients with Tuberous Sclerosis (TSC) has been rarely reported. We describe a new patient with confirmed diagnosis of TSC and MRI appearance of SWS and review the pertinent literature. We discuss these findings on the basis of the new classifications of brain malformat...

journal_title：Brain & development

authors： Curatolo P,Lo-Castro A,Pinci M,Moavero R,Bombardieri R

更新日期：2009-05-01 00:00:00

abstract：:We describe a clinical profile of a male with Rett syndrome who presented initially with significant axial and peripheral hypotonia, head and truncal titubation and global delay. He is non-ambulatory, lost the few words he had learned and gradually developed hand stereotypes, breathing difficulties, seizures, scoliosi...

journal_title：Brain & development

authors： Budden SS,Dorsey HC,Steiner RD

更新日期：2005-11-01 00:00:00

abstract：OBJECTIVE:Epilepsia partialis continua (EPC) was one type of focal status epilepticus. The aim of this study was to analyze the clinical and electroencephalography (EEG) characteristics, and outcome of 57 child-onset patients with EPC according to different etiologies, and further explore the electro-clinical-etiologic...

journal_title：Brain & development

authors： Li H,Xue J,Qian P,Zhang Y,Bao X,Liu X,Yang Z

更新日期：2017-06-01 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：:We report a case involving a 15-year-old boy with MELAS (G13513A mutation) who developed several stroke-like episodes in a short period of time. Intravenous administration of l-arginine during the acute phase of the stroke-like episodes reduced symptoms immediately, and oral supplementation of l-arginine successfully ...

journal_title：Brain & development

authors： Shigemi R,Fukuda M,Suzuki Y,Morimoto T,Ishii E

更新日期：2011-06-01 00:00:00

abstract：:Valproic acid (VPA) is a widely used and well-tolerable antiepileptic drug in epileptic patients. However, VPA has many side effects dose-dependent or non-dose-dependent. It is reported that VPA treatment may lead to biotin deficiency and low serum and liver tissue biotinidase enzyme activity (BEA). Major clinical man...

journal_title：Brain & development

authors： Arslan M,Vurucu S,Balamtekin N,Unay B,Akin R,Kurt I,Ozcan O

更新日期：2009-06-01 00:00:00

abstract：:A 10-year-old girl with a mass lesion in the left deep frontal lobe was reported. Clinically, seizures occurred at 3 years and 8 months and became intractable around the age of 5.5 years. EEG initially showed focal spikes on the left fronto-central area and later developed into diffuse slow spike and wave complexes (D...

journal_title：Brain & development

authors： Honda K,Shinomiya N,Nomura Y,Sato K,Segawa M

更新日期：1985-01-01 00:00:00

abstract：:Prominent dysphagia is seen among patients with spinal muscular atrophy (SMA) type 2, especially at the late stage of their disease progression. Nasogastric tube feeding and gastrostomy are commonly utilized to maintain their nutritional status. However, choosing a treatment strategy to maintain appropriate nutritiona...

journal_title：Brain & development

authors： Suzukia Y,Sano N,Shinonaga C,Fukuda M,Hyodo M,Morimoto T

更新日期：2007-11-01 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

authors： Trollmann R,Gassmann M

更新日期：2009-08-01 00:00:00

abstract：:Previously we have observed different characteristic chromatographic ultraviolet absorbancy profiles at 280 nm for urinary protein precipitates from patients with behavioral disorders. The purpose with this study was to look for similar changes in urinary protein excretion from the grossly disabled patients with the R...

journal_title：Brain & development

authors： Foss I,Hagberg B,Trygstad O

更新日期：1985-01-01 00:00:00