Magnetic resonance imaging of heterotopic gray matter.

abstract：:Since 1988, we have diagnosed 6 cases of hereditary progressive dystonia with marked diurnal fluctuation (HPD) in Taiwan. All cases presented with clinical features similar to those described by Segawa. They consisted of four sporadic and two familial cases. The age at onset ranged from 18 months to 8 years. There is ...

journal_title：Brain & development

authors： Wang PJ,Ko YM,Young C,Hwu WL,Shen YZ

更新日期：1994-03-01 00:00:00

abstract：:We characterized the neuropsychological status of children with newly diagnosed idiopathic childhood epilepsy and measured differences in IQ between children with different types of epilepsy. The Korean Education Development Institute-Wechsler Intelligence Scale for Children (KEDI-WISC) was administered to 72 patients...

journal_title：Brain & development

authors： Jeong MH,Yum MS,Ko TS,You SJ,Lee EH,Yoo HK

更新日期：2011-09-01 00:00:00

abstract：BACKGROUND:Biotinidase deficiency (BTD) is an autosomal recessive inborn error of metabolism provoking progressive biotin depletion, which causes, in turn, multiple carboxylase deficiency. Its infantile onset is characterized by intractable seizures associated with lethargy, psychomotor regression, hypotonia, feeding a...

journal_title：Brain & development

authors： Battini R,Olivieri G,Milone R,Mazio F,Scalise R,Verdolotti T,Primiano G,Genovese O,Mercuri E,Servidei S

更新日期：2020-06-01 00:00:00

abstract：:Event-related potential (ERP) studies with infants are often limited by a small number of measurements. We introduce a weighted general linear mixed model analysis with a time-varying covariate, which allows for the efficient analysis of all available event-related potential data of infants. This method allows control...

journal_title：Brain & development

authors： Stahl D,Parise E,Hoehl S,Striano T

更新日期：2010-04-01 00:00:00

abstract：:Six females with Rett syndrome (RS)--all seriously motor disabled with clinical symptomatology indicating not only brain but also spinal cord impairment--were investigated using auditory and somatosensory evoked responses techniques. In all patients the responses representing the pathways through the upper spinal cord...

journal_title：Brain & development

authors： Badr GG,Witt-Engerström I,Hagberg B

更新日期：1987-01-01 00:00:00

abstract：:Tourette's syndrome is manifested in a broad spectrum of motor, vocal, and behavioral disturbances. Movement disorders, such as tics, may contribute to the development of cervical myelopathy owing to the effects of involuntary movements on the neck. However, the association of cervical myelopathy with motor tics of th...

journal_title：Brain & development

authors： Lin JJ,Wang HS,Wong MC,Wu CT,Lin KL

更新日期：2007-03-01 00:00:00

abstract：:The relationship between febrile seizures and hippocampal sclerosis has been the subject of longstanding discussion. Animal models for prolonged seizures have shown a clear causal relationship with focal limbic features at low dose and hippocampal damage at high dose. Careful history taking of febrile seizure semiolog...

journal_title：Brain & development

authors： Neville BG,Gindner D

更新日期：2010-01-01 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

authors： Uchino J,Suzuki M,Hoshino K,Nomura Y,Segawa M

更新日期：2001-12-01 00:00:00

abstract：:Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is an autosomal recessive disorder of the urea cycle which causes hyperammonemia. Two forms of CPS1D are recognized: a lethal neonatal type and a less severe, delayed onset type. Neonatal CPS1D cases often present their symptoms within the first days of life. Delayed...

journal_title：Brain & development

authors： Ono H,Suto T,Kinoshita Y,Sakano T,Furue T,Ohta T

更新日期：2009-11-01 00:00:00

abstract：:Cystic lesions of the posterior fossa remain a controversial subject as to clinical classification and diagnosis, especially for those in combination with other intracranial abnormalities. During the period of November 1985 to June 1991, 16 patients with cystic lesions of the posterior fossa were retrospectively revie...

journal_title：Brain & development

authors： Tan EC,Takagi T,Karasawa K

更新日期：1995-11-01 00:00:00

abstract：:Alexander disease is a major entity of leukodystrophy; magnetic resonance imaging (MRI) studies of the brain typically show extensive changes in the cerebral white matter with frontal predominance. Heterozygous missense mutations of GFAP are thought to be sufficient for the molecular diagnosis, which has widened the A...

journal_title：Brain & development

authors： Shiihara T,Yoneda T,Mizuta I,Yoshida T,Nakagawa M,Shimizu N

更新日期：2011-08-01 00:00:00

abstract：:Amongst the motor, mental, cognitive and emotional symptoms of the Rett syndrome (RS) the motor symptoms stand out as the hallmark in analyzing the essential pathophysiology. Summarizing the motor symptoms and searching into the knowledge of relevant basic sciences, this report aims at stressing the pathophysiological...

journal_title：Brain & development

authors： Nomura Y,Segawa M

更新日期：1992-05-01 00:00:00

abstract：:A 1-year-old male began suffering from West syndrome at 3 months of age, when electroencephalography revealed hypsarrhythmia accompanied by a periodic, brief suppression phase. The administration of adrenocorticotropic hormone was partially effective for stopping the condition, and the seizure type evolved into brief ...

journal_title：Brain & development

authors： Nonoda Y,Saito Y,Nagai S,Sasaki M,Iwasaki T,Matsumoto N,Ishii M,Saitsu H

更新日期：2013-03-01 00:00:00

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...

journal_title：Brain & development

authors： 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 Y

更新日期：2013-09-01 00:00:00

abstract：:A family in which three siblings were affected with severe cerebral malformations in association with ocular anomalies and muscle disease is reported. One sibling was diagnosed as having Fukuyama type congenital muscular dystrophy (FCMD) because he showed severe hypotonia with dystrophic findings on a muscle biopsy in...

journal_title：Brain & development

authors： Yoshioka M,Kuroki S,Nigami H,Kawai T,Nakamura H

更新日期：1992-09-01 00:00:00

abstract：BACKGROUND:The initial presentation of acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is indistinguishable from that of complex febrile seizures (FS), which poses a great diagnostic challenge for clinicians. Excitotoxicity is speculated to be the pathogenesis of AESD. Vitamin B6 (VB6) is ...

journal_title：Brain & development

authors： Akiyama T,Toda S,Kimura N,Mogami Y,Hanaoka Y,Tokorodani C,Ito T,Miyahara H,Hyodo Y,Kobayashi K

更新日期：2020-05-01 00:00:00

abstract：:Body movements (BMs) during sleep in patients with age dependent epileptic encephalopathy (ADEE) were studied polysomnographically in order to clarify the underlying mechanism of intractability and the age dependent trend. Twenty patients were divided into two groups according to the prognosis of convulsions. In the g...

journal_title：Brain & development

authors： Iwakawa Y,Ogiso M,Suzuki H,Kawano Y,Koyama J,Shimohira M

更新日期：1986-01-01 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

authors： Velez A,Dulac O,Plouin P

更新日期：1990-01-01 00:00:00

abstract：BACKGROUND:Congenital hypothyroidism is the most common reason of mental retardation, and normal neurological development can be provided by early and effective treatment. In this present study, it is aimed to compare neurological developments of patients in 6-42 months of age with congenital hypothyroidism and healthy...

journal_title：Brain & development

authors： Komur M,Ozen S,Okuyaz C,Makharoblıdze K,Erdogan S

更新日期：2013-05-01 00:00:00

abstract：:The pathological role of autoantibodies in development of CNS disorders is a new idea with growing interest among neuroscientists. The involvement of autoimmune response in the pathogenesis of autism spectrum disorders (ASD) has been suggested by the presence of multiple brain-specific autoantibodies in children with ...

journal_title：Brain & development

authors： Mazur-Kolecka B,Cohen IL,Gonzalez M,Jenkins EC,Kaczmarski W,Brown WT,Flory M,Frackowiak J

更新日期：2014-04-01 00:00:00

abstract：:A 14-year-old female had repeated vomiting, headache, abdominal pain, visual field deficit and lethargy at the onset of hypertensive encephalopathy. Cerebrospinal fluid (CSF) test revealed a high level of IgG and protein. MRI demonstrated no supratentorial cerebral lesions but hyperintense lesions were observed from t...

journal_title：Brain & development

authors： Nagato M,Takahashi Y,Yoshioka M,Nambu M

更新日期：2010-08-01 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：: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

authors： Takano T,Matsui E,Yamano T,Shimada M,Nakasu Y,Handa J

更新日期：1993-07-01 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

authors： Afenjar A,Moutard ML,Doummar D,Guët A,Rabier D,Vermersch AI,Mignot C,Burglen L,Heron D,Thioulouse E,de Villemeur TB,Campion D,Rodriguez D

更新日期：2007-10-01 00:00:00

abstract：:Immaturity in water and electrolyte balance in the brain has been considered to increase the susceptibility of young animals and children to febrile convulsions (FCs). Arginine-vasopressin (AVP) is involved in the regulation of several centrally mediated events such as modulation of fever and the ease with which water...

journal_title：Brain & development

authors： Kiviranta T,Tuomisto L,Jolkkonen J,Airaksinen EM

更新日期：1996-03-01 00:00:00

abstract：:In children, the conditions defined as "ataxia" form a very heterogeneous group. They also often differ from the "ataxias" of adults. In many cases this can be attributed to their different etiology, but probably it is also due to the peculiar functional and physiopathologic characteristics of the cerebellar system du...

journal_title：Brain & development

authors： De Negri M,Rolando S

更新日期：1990-01-01 00:00:00

abstract：BACKGROUND:Rett syndrome is a severe genetic neurodevelopmental disorder mainly affecting females. The aim of this study was to describe pubertal development in a population-based cohort of females with Rett syndrome. METHODS:To assess pubertal trajectory we used six waves of data provided by parents of girls and wome...

journal_title：Brain & development

authors： Knight O,Bebbington A,Siafarikas A,Woodhead H,Girdler S,Leonard H

更新日期：2013-11-01 00:00:00

abstract：:The sixth case of hydranencephaly in a twin is reported. The patient is an 11-year-old girl, and her twin was stillborn and macerated. Intrauterine disseminated intravascular coagulation may be the cause of hydranencephaly in this patient. ...

journal_title：Brain & development

authors： Yoshioka H,Yoshida A,Ochi M,Mino M,Kasubuchi Y,Sawada T,Kusunoki T

更新日期：1980-01-01 00:00:00

abstract：:Findings from a Golgi study of the visual cortex in patients with the Down syndrome were compared with those from neurologically normal, age-matched control subjects. The dendritic atrophy seen in childhood continued into adulthood, with a marked decrease in dendritic branching, dendritic length, and spine frequency i...

journal_title：Brain & development

authors： Takashima S,Ieshima A,Nakamura H,Becker LE

更新日期：1989-01-01 00:00:00

abstract：:Brain magnetic resonance spectroscopy (MRS) and diffusion tensor imaging (DTI) in one patient with merosin-deficient congenital muscular dystrophy (MDCMD) revealed significant metabolite (choline, creatine, N-acetyl aspartate) level reductions, fractional anisotropy (FA) reduction and increased apparent diffusion coef...

journal_title：Brain & development

authors： Sijens PE,Fock JM,Meiners LC,Potze JH,Irwan R,Oudkerk M

更新日期：2007-06-01 00:00:00