Intracranial calcifications, epilepsy, and optic atrophy associated with metaphyseal dysplasia: a case report.

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：: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：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 6-month-old boy with persistent primitive trigeminal artery (PPTA) presented with stridor, dysphagia, delayed motor development and postural neck and shoulder dystonia. Magnetic resonance imaging/angiography and ultrasonography revealed PPTA, with flow from the dilated basilar artery to the right internal carotid ar...

journal_title：Brain & development

authors： Okanishi T,Saito Y,Miki S,Nagaishi J,Hanaki K,Tomita Y,Fukuda C,Fujii S,Fujiwara K,Kawamoto K,Hata F,Maegaki Y,Ohno K

更新日期：2007-04-01 00:00:00

abstract：:The aim of this study was to evaluate respiratory function of severely handicapped children. Tidal volumes and respiratory rates were determined in a total of 130 children with different clinical motor abilities. Tidal volume of non-sitters (n = 39) was significantly lower than ambulators (n = 49) or sitters (n = 42) ...

journal_title：Brain & development

authors： Ishida C,Fujita M,Umemoto H,Taneda M,Sanae N,Tazaki T

更新日期：1990-01-01 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：:Learning disorders of various types are relatively common, and the reaction of the affected child can lead to social problems. The higher the children's intelligence the more frustrated they can become. Lack of self-esteem can cause unacceptable behaviour in trying to counteract this, and boost the child's confidence....

journal_title：Brain & development

authors： Gordon N

更新日期：1993-05-01 00:00:00

abstract：:Continuous and simultaneous registration of electroencephalogram (EEG) and heart rate (HR) pattern in preterm infants can give information about the functioning of central nervous system and the integrity of the autonomic nervous system. The developmental and behavioural state determine the pattern of EEG activity. A ...

journal_title：Brain & development

authors： Pfurtscheller K,Müller-Putz GR,Urlesberger B,Dax J,Müller W,Pfurtscheller G

更新日期：2005-12-01 00:00:00

abstract：:The juvenile form of neuronal ceroid lipofuscinosis (JNCL) is caused by mutations in the CLN3 gene, and is characterized by progressive loss of vision and development of motor deficits. A few patients exhibit a more protracted clinical course and are diagnosed with protracted JNCL (PJNCL). Here, we report the autopsy ...

journal_title：Brain & development

authors： Anzai Y,Hayashi M,Fueki N,Kurata K,Ohya T

更新日期：2006-08-01 00:00:00

abstract：:Two brothers, offspring of an Arab inbred family suffered from both mucolipidosis III (ML-III) and Bardet-Biedl syndrome (BBS). Other members of this family were affected either with ML-III, or with BBS. It seems that this unique combination is probably coincidental. ...

journal_title：Brain & development

authors： Gordon CR,Bar-Ziv Y,Frydman M,Zlotogora J,Gadoth N

更新日期：1990-01-01 00:00:00

abstract：OBJECTIVES:To explore the relationship between autistic regression (AR) with and without EEG abnormalities and favourable outcome. METHODS:Follow up data on children with favourable outcome in a series of 534 cases aged below 5 years and diagnosed as ASD. RESULTS:Cases with regression were 167 (31.8%), usually with p...

journal_title：Brain & development

authors： Zappella M

更新日期：2010-10-01 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：:A 2-month-old Japanese girl exhibited tonic seizure, agenesis of the corpus callosum, lacunar chorioretinopathy, vertebral anomalies, electroencephalographic abnormalities and a malignant tumor. Autopsy revealed a hepatoblastoma and severe brain malformations consisting of callosal agenesis, arhinencephaly, marked pol...

journal_title：Brain & development

authors： Tanaka T,Takakura H,Takashima S,Kodama T,Hasegawa H

更新日期：1985-01-01 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：OBJECTIVES:Preterm children with severe dyskinetic cerebral palsy due to bilirubin encephalopathy often suffer from marked generalised hypertonus as they age. We performed a questionnaire survey to investigate patient-reported outcomes of treatments for improving their activities of daily life. METHODS:A mail question...

journal_title：Brain & development

authors： Kitai Y,Hirai S,Okuyama N,Hirotsune M,Nishimoto S,Mizutani S,Okumura A,Kumada S,Arai H

更新日期：2020-04-01 00:00:00

abstract：:The abnormal patterns of cerebral convolutions range from severe to small anomalies restricted to tertiary gyri and sulci. Lesions within Glial-Pial barrier were found in examined cases with cortical developmental abnormalities. Anomalies and impaired function of vessels penetrating the cortex from meningeal plexus co...

journal_title：Brain & development

authors： Dambska M,Laure-Kamionowska M

更新日期：2001-07-01 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：:We evaluated the cyclic alternating pattern (CAP) during the first year of life in order to obtain information on the maturation of arousal mechanisms during NREM sleep and to provide normative data for CAP parameters in this age range (5-16months). Eleven healthy children (mean age 7.9±3.3months, seven boys) were stu...

journal_title：Brain & development

authors： Miano S,Peraita-Adrados R,Montesano M,Castaldo R,Forlani M,Villa MP

更新日期：2011-05-01 00:00:00

abstract：:Dihydropyrimidinase deficiency is a rare autosomal recessive disease affecting the second step of pyrimidine degradation. It is caused by mutations in the DPYS gene. Only approximately 30 cases have been reported to date, with a phenotypical variability ranging from asymptomatic to severe neurological illness. We repo...

journal_title：Brain & development

authors： Tsuchiya H,Akiyama T,Kuhara T,Nakajima Y,Ohse M,Kurahashi H,Kato T,Maeda Y,Yoshinaga H,Kobayashi K

更新日期：2019-03-01 00:00:00

abstract：:21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia, an autosomal recessive disorder characterized by impaired synthesis of cortisol from cholesterol by the adrenal cortex. Subclinical involvement of brain white matter has been reported in subjects with congenital adrenal hyperplasia. ...

journal_title：Brain & development

authors： Gaudiano C,Malandrini A,Pollazzon M,Murru S,Mari F,Renieri A,Federico A

更新日期：2010-05-01 00:00:00

abstract：:A 2-yr-3-mo-old girl with metachromatic leukodystrophy (MLD) was examined using serial multiple electrophysiological procedures. Sensory nerve conduction velocity was delayed earlier and more severely than motor nerve conduction velocity. Visual evoked potentials (VEPs) showed prolonged latency of wave IV. Auditory br...

journal_title：Brain & development

authors： Takakura H,Nakano C,Kasagi S,Takashima S,Takeshita K

更新日期：1985-01-01 00:00:00

abstract：BACKGROUND:The majority of spinal muscular atrophy (SMA) patients showed homozygous deletion or other mutations of SMN1. However, the genetic etiology of a significant number of SMA patients has not been clarified. Recently, mutation in the gene underlying cat SMA, limb expression 1 (LIX1), has been reported. Similarit...

journal_title：Brain & development

authors： Sasongko TH,Gunadi,Yusoff S,Atif AB,Fatemeh H,Rani A,Marini M,Ab Aziz CB,Zabidi-Hussin ZA,Nishio H,Zilfalil BA

更新日期：2010-05-01 00:00:00

abstract：OBJECTIVES:Acute encephalopathy with reduced subcortical diffusion (AED) covers a spectrum including not only typical acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) but also atypical AESD with monophasic clinical course, or more severe subtypes. Aim of this study is to analyze prognostic ...

journal_title：Brain & development

authors： Hayashi N,Okumura A,Kubota T,Tsuji T,Kidokoro H,Fukasawa T,Hayakawa F,Ando N,Natsume J

更新日期：2012-09-01 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：:Cerebral blood flow was assessed by ultrasound in 12 children with intractable epilepsy who were treated with ACTH. The average maximal blood velocity (A/L) and end-diastolic blood velocity (d) of the internal carotid artery were measured, before, during and after ACTH therapy in each subject. The right and left mean ...

journal_title：Brain & development

authors： Futagi Y,Abe J

更新日期：1985-01-01 00:00:00

abstract：:Eighty participants (62 males; 18 females; age range: 6-16 years) took part in the study, comprising four groups of 20 subjects each: TS-only, ADHD-only, TS+ADHD, controls. The age distributions, did not differ significantly among the four groups. The severity of symptoms, assessed by the TSGS, did not differ signific...

journal_title：Brain & development

authors： Rizzo R,Curatolo P,Gulisano M,Virzì M,Arpino C,Robertson MM

更新日期：2007-08-01 00:00:00

abstract：:A female case of developmental arrest, early-onset seizures, retinal pigmentary degeneration, progressive central nervous symptoms and peripheral neuropathy, associated with progressive renal dysfunction, anemia and nephrotic syndrome, was presented. Her epileptic syndrome was possibly an early myoclonic encephalopath...

journal_title：Brain & development

authors： Hirabayashi S,Shigematsu H,Iai M,Takashima S

更新日期：2000-01-01 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：BACKGROUND:Guillain Barre syndrome (GBS) commonly presents with limb weakness and occasional cranial nerve, respiratory or autonomic involvement. Isolated or predominant bilateral finger drop as presenting feature has never been reported in the pediatric age group. CASE:A 9-year-old boy presented with deformity of bot...

journal_title：Brain & development

authors： Dubey R,Kaushik JS,Israni A,Saini L,Patel H,Chakrabarty B,Gulati S

更新日期：2016-02-01 00:00:00

abstract：:Twelve patients with early infancy onset megalencephaly and leukodystrophy with a mild clinical course are reported. The neuroradiological, clinical, and genetic aspects of this recently recognized familial leukodystrophy syndrome were reviewed. Five were affected siblings, and all patients had consanguineous parents....

journal_title：Brain & development

authors： Topcu M,Saatci I,Topcuoglu MA,Kose G,Kunak B

更新日期：1998-04-01 00:00:00