Clinicopathological differences between juvenile and late infantile metachromatic leukodystrophy.

abstract：:We investigated potential renal functional impairment induced by chronic use of anti-epileptic drugs (AEDs) in 79 epileptic children. They were divided into five groups: valproic acid (VPA) monotherapy where the serum concentration (SC) of VPA was no less than 60 micrograms/ml (VPA [SC > or = 60]) (15 cases), VPA mono...

journal_title：Brain & development

authors： Otsuka T,Sunaga Y,Hikima A

更新日期：1994-11-01 00:00:00

abstract：:We report on a 9-year-old boy who presented with acute encephalopathy and hemophagocytic lymphohistiocytosis (HLH). The patient was referred to our hospital because of fever, seizures, and decreased consciousness. He showed moderately elevated levels of proinflammatory cytokines in the cerebrospinal fluid and plasma, ...

journal_title：Brain & development

authors： Wada T,Nishiura K,Kuroda M,Asai E,Vu QV,Toma T,Niida Y,Yachie A

更新日期：2012-05-01 00:00:00

abstract：:MeCP2 is a protein that selectively binds to methylated cytosines through its methyl-CpG-binding domain (MBD) and connects DNA methylation to transcriptional repression. Mutations in MECP2 gene, located in Xq28, have been reported as being the major cause of Rett syndrome and are also associated with some cases of X-l...

journal_title：Brain & development

authors： Campos M Jr,Abdalla CB,Santos-Rebouças CB,dos Santos AV,Pestana CP,Domingues ML,dos Santos JM,Pimentel MM

更新日期：2007-06-01 00:00:00

abstract：:Eight patients who satisfied the following three criteria: 1) autistic behavior, 2) mental retardation and 3) stereotypic hand movements were evaluated. Four patients fulfilled the diagnostic criteria for the Rett syndrome developed by representatives of the International Rett Syndrome Association and the Center for D...

journal_title：Brain & development

authors： Lin MY,Wang PJ,Lin LH,Shen YZ

更新日期：1991-07-01 00:00:00

abstract：:Over the past 10 years mutations in voltage-gated sodium channels (Na(v)s) have become closely associated with inheritable forms of epilepsy. One isoform in particular, Na(v)1.1 (gene symbol SCN1A), appears to be a superculprit, registering with more than 330 mutations to date. The associated phenotypes range from ben...

journal_title：Brain & development

authors： Lossin C

更新日期：2009-02-01 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：:Intranuclear rod myopathy (IRM), a variant of nemaline myopathy, is characterized by the presence of nemaline bodies in myonuclei. We report a case of IRM presenting with hypoxic ischemic encephalopathy (HIE). There were no prenatal complications caused by fetal brain injury. Although no nemaline bodies were observed ...

journal_title：Brain & development

authors： Kawase K,Nishino I,Sugimoto M,Kouwaki M,Koyama N,Yokochi K

更新日期：2015-02-01 00:00:00

abstract：:A 5-year-old female case of 5p-syndrome exhibited pontine hypoplasia on magnetic resonance imaging. A high-pitched cry characteristic of 5p-syndrome disappeared after 2 years. 5p-syndrome should be considered as a differential diagnosis for brainstem, especially pontine, hypoplasia. Older patients with brainstem hypop...

journal_title：Brain & development

authors： Ninchoji T,Takanashi J

更新日期：2010-08-01 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:Multifocal motor neuropathy (MMN) is an acquired immune-mediated form of neuropathy characterized by upper and asymmetric limb weakness without sensory loss. The mean age of onset is 40 years (range, 20-70 years), and childhood-onset MMN is extremely rare. In the present report, we discuss a case of childhoo...

journal_title：Brain & development

authors： Maeda H,Ishii R,Kusunoki S,Chiyonobu 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：:The molybdenum cofactor is essential for the function of sulphite oxidase, xanthine dehydrogenase, and aldehyde oxidase enzymes. Molybdenum cofactor deficiency (MoCD) is a fatal disease resulting in severe neurological damage and death in early childhood. MoCD is an autosomal recessive condition which may mimic ischae...

journal_title：Brain & development

authors： Per H,Gümüş H,Ichida K,Cağlayan O,Kumandaş S

更新日期：2007-07-01 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：:Aims of our study were to describe the early clinical features of Dravet syndrome (SMEI) and the neurological, cognitive and behavioral outcome. The clinical history of 37 patients with clinical diagnosis of SMEI, associated with a point mutation of SCN1A gene in 84% of cases, were reviewed with particular attention t...

journal_title：Brain & development

authors： Ragona F,Brazzo D,De Giorgi I,Morbi M,Freri E,Teutonico F,Gennaro E,Zara F,Binelli S,Veggiotti P,Granata T

更新日期：2010-01-01 00:00:00

abstract：:Propionic acidemia manifesting with hyperglycemia is rare. Few cases have been reported mainly of the neonatal-onset form associated with high mortality. We report a 9-month-old Palestinian boy who manifested with coma, severe hyperglycemia and ketoacidosis mimicking diabetic ketoacidosis. Family history of unexplaine...

journal_title：Brain & development

authors： Dweikat IM,Naser EN,Abu Libdeh AI,Naser OJ,Abu Gharbieh NN,Maraqa NF,Abu Libdeh BY

更新日期：2011-05-01 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

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

更新日期：1983-01-01 00:00:00

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：BACKGROUND:The effect of rituximab on acute disseminated encephalomyelitis (ADEM) followed by recurrent optic neuritis (ON) is not yet known. PATIENT:We are reporting the case of a 4-year-old Japanese girl who was diagnosed with anti-myelin oligodendrocyte glycoprotein (MOG) antibody positive ADEM followed by recurren...

journal_title：Brain & development

authors： Nagashima M,Osaka H,Ikeda T,Matsumoto A,Miyauchi A,Kaneko K,Nakashima I,Nakano Y,Wakabayashi K,Monden Y,Yamagata T

更新日期：2018-08-01 00:00:00

abstract：:To determine whether or not dystrophin really exists in the outer plexiform layer (OPL) of the retina, we studied control and mdx mice, using four kinds of polyclonal antibodies (DMDP-II, 60 kd, 30 kd and DMDP-IV) against dystrophin. Although control OPL showed a positive immunohistochemical reaction with all four ant...

journal_title：Brain & development

authors： Zhao J,Uchino M,Yoshioka K,Miyatake M,Miike T

更新日期：1991-01-01 00:00:00

abstract：INTRODUCTION:Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is the most common subtype of acute encephalopathy among children in Japan. The pathogenesis of AESD is mostly delayed cerebral edema caused by excitotoxic injury. It is difficult to discriminate AESD and complex febrile seizure ...

journal_title：Brain & development

authors： Yokochi T,Takeuchi T,Mukai J,Akita Y,Nagai K,Obu K,Kakuma T,Matsuishi T

更新日期：2016-02-01 00:00:00

abstract：:This study examined paroxysmal abnormalities and epilepsy in EEG for individuals with pervasive developmental disorders (PDD) in two parts: first with a large number of subjects (n=1624); and second with extracted subjects followed from 5 years into adolescence and beyond (n=92). Many paroxysms in PDD patients in thei...

journal_title：Brain & development

authors： Kawasaki Y,Shinomiya M,Takayanagi M,Niwa S

更新日期：2010-10-01 00:00:00

abstract：AIMS:Abnormalities of gross motor function in children with autism are well known to clinicians but have not received much empirical documentation and, with the exception of stereotypies, are not among its diagnostic criteria. We recorded the characteristics of gait and prevalence of toe walking, the range of passive j...

journal_title：Brain & development

authors： Shetreat-Klein M,Shinnar S,Rapin I

更新日期：2014-02-01 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

authors： Jin K,Handa T,Ishihara T,Yoshii F

更新日期：1979-01-01 00:00:00

abstract：:3-Ketothiolase deficiency (3KTD) manifests with intermittent acidosis and is due to deficiency of mitochondrial 2-methylacetoacetate thiolase. Only 22 patients have been previously reported. Although its variable clinical presentation is recognized, the associated neurological findings have not been detailed. We repor...

journal_title：Brain & development

authors： Ozand PT,Rashed M,Gascon GG,al Odaib A,Shums A,Nester M,Brismar J

更新日期：1994-11-01 00:00:00

abstract：:We report the 3rd case in the literature of a 3-year-old boy with D-2-hydroxyglutaric (D-2-HG) aciduria, who presented primarily generalized hypotonia and feeding difficulty during the neonatal period, with eventual development of generalized myoclonic seizures. Gas chromatographic analysis of urinary organic acids sh...

journal_title：Brain & development

authors： Sugita K,Kakinuma H,Okajima Y,Ogawa A,Watanabe H,Niimi H

更新日期：1995-03-01 00:00:00

abstract：BACKGROUND:Aromatic l-amino acid decarboxylase (AADC) deficiency (OMIM #608643) is a rare and severe disorder of biogenic amine synthesis caused by mutations in the DDC gene. The phenomenology of the movement disorder includes intermittent oculogyric crises and limb dystonia, generalized athetosis, and impaired volunta...

journal_title：Brain & development

authors： Dai L,Ding C,Fang F

更新日期：2019-02-01 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：:Six boys affected by acquired encephalopathy with an abnormal breathing pattern in wakefulness were studied. Polygraphic recordings showed two different patterns in our population. In two brothers a periodic breathing pattern was recorded in the awake and sleep states. In the others, central apneas with or without tac...

journal_title：Brain & development

authors： Cirignotta F,Sforza E,Burroni M,Zappella M,Lugaresi E

更新日期：1990-01-01 00:00:00

abstract：:Mutations in the methyl-CpG-binding protein 2 gene (MECP2) are identified in the majority of females with Rett syndrome (RTT), an X-linked dominant neurodevelopmental disorder. We searched for mutations by sequencing the MECP2 coding region in 45 sporadic cases (35 with classic RTT, eight with variant forms and two ma...

journal_title：Brain & development

authors： Lee SS,Wan M,Francke U

更新日期：2001-12-01 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