Clinical and MRI findings in a case of D-2-hydroxyglutaric aciduria.

abstract：:We report an 11-year-old girl with progressive hypopituitarism and visual loss of the right eye caused by trans-sphenoidal and sphenoethmoidal encephaloceles associated with morning glory syndrome. She was first seen at the age of 8 years, because of polydipsia and polyuria, and examination at that time revealed pitui...

journal_title：Brain & development

authors： Morioka M,Marubayashi T,Masumitsu T,Miura M,Ushio Y

更新日期：1995-05-01 00:00:00

abstract：:Childhood leukodystrophies are a growing category of neurological disorders in pediatric neurology practice. With the help of new advanced genetic studies such as whole exome sequencing (WES) and whole genome sequencing (WGS), the list of childhood heritable white matter disorders has been increased to more than one h...

journal_title：Brain & development

authors： Ashrafi MR,Tavasoli AR

更新日期：2017-05-01 00:00:00

abstract：BACKGROUND:Carnitine deficiency is relatively common in epilepsy; risk factors reportedly include combination antiepileptic drug (AED) therapy with valproic acid (VPA), young age, intellectual disability, diet and enteral or parenteral feeding. Few studies have examined the correlation between each risk factor and carn...

journal_title：Brain & development

authors： Fukuda M,Kawabe M,Takehara M,Iwano S,Kuwabara K,Kikuchi C,Wakamoto H,Morimoto T,Suzuki Y,Ishii E

更新日期：2015-09-01 00:00:00

abstract：BACKGROUND:Several studies have been conducted to determine the risk of recurrence after withdrawal of antiepileptic drugs (AEDs) in recent years. There is no consensus concerning the circumstances affecting discontinuation of AEDs. This study was designed to determine the recurrence rate of epilepsy after withdrawal o...

journal_title：Brain & development

authors： Karalok ZS,Guven A,Öztürk Z,Gurkas E

更新日期：2020-01-01 00:00:00

abstract：:Glucose transporter type I deficiency syndrome (GLUT-1 DS) is an inborn error of glucose transport characterized by seizures, developmental delay, spasticity, acquired microcephaly and ataxia. Diagnosis is based on the finding of low cerebrospinal fluid glucose, in the absence of hypoglycemia, and identification of GL...

journal_title：Brain & development

authors： Veggiotti P,Teutonico F,Alfei E,Nardocci N,Zorzi G,Tagliabue A,De Giorgis V,Balottin U

更新日期：2010-05-01 00:00:00

abstract：:We report on the clinical, neuropathological, and genetic findings of a Japanese case with myocerebrohepatopathy spectrum (MCHS) disorder due to polymerase gamma (POLG) mutations. A girl manifested poor sucking and failure to thrive since 4 months of age and had frequent vomiting and developmental regression at 5 mont...

journal_title：Brain & development

authors： Montassir H,Maegaki Y,Murayama K,Yamazaki T,Kohda M,Ohtake A,Iwasa H,Yatsuka Y,Okazaki Y,Sugiura C,Nagata I,Toyoshima M,Saito Y,Itoh M,Nishino I,Ohno K

更新日期：2015-08-01 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：OBJECTIVES:To evaluate the outcome of ketogenic diets (KDs) in patients with glucose transport type 1 deficiency syndrome (GLUT1DS) in Japan. METHODS:A nationwide survey for GLUT1DS was conducted by sending questionnaires to board-certified pediatric neurologists nationwide to obtain clinical and laboratory data. RES...

journal_title：Brain & development

authors： Fujii T,Ito Y,Takahashi S,Shimono K,Natsume J,Yanagihara K,Oguni H

更新日期：2016-08-01 00:00:00

abstract：BACKGROUND:Leigh syndrome (LS) is a mitochondrial disorder that shows abnormal basal ganglia lesion and psychomotor regression. Although vitamins have been used for LS, we have not found any effective drug. CASE PRESENTATION:A 26-year-old man who showed psychomotor delay and short stature at the age of 1 year was diag...

journal_title：Brain & development

authors： Kimura S,Shiraishi H,Egawa K,Uchida M,Ueno M

更新日期：2021-01-01 00:00:00

abstract：:To clarify the characteristics of the mode of appearance and morphology of epileptiform discharges before the onset of West syndrome (WS). The subjects were 25 infants whose electroencephalograms (EEGs) were recorded before the onset of WS and whose first EEG was recorded before 6 months of corrected age (CA). We exte...

journal_title：Brain & development

authors： Endoh F,Yoshinaga H,Kobayashi K,Ohtsuka Y

更新日期：2007-11-01 00:00:00

abstract：:For the purpose of early detection and intervention in mentally handicapped children, the mental retardation (MR) Monitoring Research Committee in Japan initiated a survey in 1981 to determine the prevalence rate and etiology of MR children who had been born between 1969 and 1974, that's those currently from 7 to 12 y...

journal_title：Brain & development

authors： Shiotsuki Y,Matsuishi T,Yoshimura K,Yamashita F,Yano K,Tokimasa H,Shoji H

更新日期：1984-01-01 00:00:00

abstract：:Two cases of convulsive syncope following the insertion of sphenoidal electrodes are reported. The episodes occurred shortly after an uneventful insertion of the needle. Both patients exhibited behavioral arrest with loss of muscle tone, followed by flexor posturing, jerking of the extremities, then followed by what a...

journal_title：Brain & development

authors： DeToledo JC

更新日期：1999-04-01 00:00:00

abstract：:The developmental changes in N-acetyl-L-aspartic acid (NAA) were assessed in human fetal and child brains by means of high resolution proton magnetic resonance spectroscopy (MRS). NAA was detected in the cerebral cortex and white matter of fetuses of 16 weeks' gestation. NAA increased gradually from 24 weeks' gestatio...

journal_title：Brain & development

authors： Kato T,Nishina M,Matsushita K,Hori E,Mito T,Takashima S

更新日期：1997-03-01 00:00:00

abstract：OBJECTIVE:This study used quantitative analysis to determine whether increased variability in fetal heart rate (FHR) is related to the risk of developing periventricular leukomalacia (PVL). METHODS:We analyzed 124 FHR traces of neonates delivered preterm at 27-33 weeks' gestation to 105 mothers. FHR traces 1-3h before...

journal_title：Brain & development

authors： Kurahashi H,Okumura A,Kubota T,Kidokoro H,Maruyama K,Hayakawa M,Itakura A,Matsuzawa K,Yamamoto H,Kato T,Hayakawa F,Watanabe K

更新日期：2016-02-01 00:00:00

abstract：:We present the clinical and neuropathological findings in a female patient with early onset Cockayne syndrome and a chromosomal anomaly (47XXX). The girl was the only child of healthy, unrelated parents. She was born with a birth weight of 1,930 gm. She had progeroid facial features with bilateral cataracts. A diagnos...

journal_title：Brain & development

authors： Hayashi M,Hayakawa K,Suzuki F,Sugita K,Satoh J,Morimatsu Y

更新日期：1992-01-01 00:00:00

abstract：:A 7-year-old boy began to complain that his pitch perception was decreased just after oral medication with carbamazepine was initiated for the treatment of epilepsy. When he played the piano, he felt as if he had played a musical note of almost a half pitch lower than he had. His pitch perception recovered soon after ...

journal_title：Brain & development

authors： Yoshikawa H,Abe T

更新日期：2003-03-01 00:00:00

abstract：:Germ cell tumors originating in the posterior fossa are very rare. Described herein is a case of primary germ cell tumor (yolk sac tumor) found in the cerebellar vermis. A 5-year-old boy who complained of headache was admitted. CT and MRI revealed a tumor with diffuse enhancement by contrast medium in the right cerebe...

journal_title：Brain & development

authors： Nakase H,Ohnishi H,Touho H,Karasawa J,Tsunoda S

更新日期：1994-09-01 00:00:00

abstract：:Neurofibrillary tangles (NFTs) have been shown in 20% of subacute sclerosing panencephalitis (SSPE) cases. NFTs contain paired helical filaments formed by hyperphosphorylated tau. The intraneuronal tau metabolism and the rate of formation of paired helical filaments can be regulated by interactions between tau and iso...

journal_title：Brain & development

authors： Yüksel D,Ichiyama T,Yilmaz D,Anlar B

更新日期：2012-04-01 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：: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

authors： Uemura N,Matsumoto A,Nakamura M,Watanabe K,Negoro T,Kumagai T,Miura K,Ohki T,Mizuno S,Okumura A,Aso K,Hayakawa F,Kondo Y

更新日期：2005-08-01 00:00:00

abstract：:A patient with adrenoleukodystrophy was successfully treated by means of intravenous gammaglobulin injections. The clinical symptoms, especially visual loss, were apparently relieved and no neurological deterioration was observed during a 18-month period following the start of the gammaglobulin treatment. ...

journal_title：Brain & development

authors： Miike T,Taku K,Tamura T,Ohta J,Ozaki M,Yamamoto C,Sakai T,Antoku Y,Yadomi C

更新日期：1989-01-01 00:00:00

abstract：:A cDNA encoding for rat synapsin I, a neuron-specific protein localized on the cytoplasmic surface of synaptic vesicles and probably involved in the regulation of neurotransmitter release from nerve terminals, has been used to map the human gene to the short arm of the X chromosome. We have screened, using this cDNA, ...

journal_title：Brain & development

authors： Ferlini A,Ansaloni L,Nobile C,Forabosco A

更新日期：1990-01-01 00:00:00

abstract：:Serial cranial ultrasound examinations were performed through the anterior fontanel to detect and follow the complications of bacterial meningitis in 16 neonates. The final results included normal findings in 9 patients, and abnormal in the other 7 cases. Among the latter, 5 patients with hydrocephalus were sequential...

journal_title：Brain & development

authors： Hung KL

更新日期：1986-01-01 00:00:00

abstract：BACKGROUND:ARX genetic defect is associated with a spectrum of neurodevelopmental disorders that exhibit a high degree of phenotypic heterogeneity. METHODS:We studied a family with a 13-year old Chinese boy and his two elder brothers presented with infantile epileptic-dyskinetic encephalopathy and clarified the unknow...

journal_title：Brain & development

authors： Kwong AK,Chu VL,Rodenburg RJT,Smeitink J,Fung CW

更新日期：2019-11-01 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

authors： Ohta H,Ohtsuka Y,Tsuda T,Oka E

更新日期：2004-01-01 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

authors： Cohen ME,Duffner PK

更新日期：1989-01-01 00:00:00

abstract：BACKGROUND:Germline mutations of the PTEN gene are responsible for several PTEN hamartoma tumor syndromes. They are also implicated as a cause of macrocephaly and mild to severe developmental delay, regardless of the presence or absence of hamartomas in childhood. Nevertheless, because of limited information, the clini...

journal_title：Brain & development

authors： Kato K,Mizuno S,Inaba M,Fukumura S,Kurahashi N,Maruyama K,Ieda D,Ohashi K,Hori I,Negishi Y,Hattori A,Saitoh S

更新日期：2018-09-01 00:00:00

abstract：:A 9-year-old female MELAS patient with myoclonus is reported, with emphasis on the results of electrophysiological studies of the myoclonus. At age 5 years she experienced a stroke-like episode, and a diagnosis of MELAS was made at age 6 years on the basis of muscle biopsy findings. At age 9 years spontaneous and segm...

journal_title：Brain & development

authors： Saitoh S,Kohsaka S,Mizukami S,Kajii N

更新日期：1992-07-01 00:00:00

abstract：:A 5-year-old boy with acute cerebellar ataxia was examined by means of magnetic resonance imaging (MRI) and was found to have a lesion showing low and high signal intensity in T1- and T2-weighted images, respectively, in the left cerebellar peduncle in the acute phase. The lesion disappeared in the convalescent phase....

journal_title：Brain & development

authors： Hayashi T,Ichiyama T,Kobayashi K

更新日期：1989-01-01 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

authors： Topaloğlu H,Gücüyener K,Yalaz K,Renda Y,Topçu M,Aysun S,Ozdirim E,Anlar B

更新日期：1992-03-01 00:00:00