Clinical improvement of adrenoleukodystrophy following intravenous gammaglobulin therapy.

abstract：:Wolf-Hirschhorn syndrome (WHS) is associated with partial deletion of short arm of chromosome 4, and characterized by severe growth retardation. Other characteristic features are microcephaly, intellectual handicap, Greek helmet facies and closure deficits such as cleft lip or cleft palate, coloboma of the eye, and ca...

journal_title：Brain & development

authors： Tutunculer F,Acunas B,Hicdonmez T,Deviren A,Pelitli V

更新日期：2004-04-01 00:00:00

abstract：PURPOSE:Many factors have been studied as potential predictors of recurrent febrile seizures (FS), however the available data in literature are inconsistent. The aim of the present paper is to determine which factors are responsible for the first and for multiple recurrences of FS, in a large sample of children with a ...

journal_title：Brain & development

authors： Pavlidou E,Tzitiridou M,Kontopoulos E,Panteliadis CP

更新日期：2008-01-01 00:00:00

abstract：:In order to evaluate the criteria for discontinuing neonatal anticonvulsant treatment, 55 newborns with seizures have been studied. Clinical and EEG serial examinations were performed: soon after the first seizure, throughout the hospital course, and during the follow-up every 3 months until a year, and every 6 months...

journal_title：Brain & development

authors： Scarpa P,Chierici R,Tamisari L,Fortini C,Volpato S

更新日期：1983-01-01 00:00:00

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：:We examined the specific nerve conduction deficits distinguishing spinal muscular atrophy (SMA) subtypes I and II. Five SMA I patients (age, 0.2-1.1 years) and 10 SMA II patients (age, 1.0-2.8 years) were examined. Patients were compared to age-matched controls for motor and sensory conduction velocity (MCV and SCV) c...

journal_title：Brain & development

authors： Yonekawa T,Komaki H,Saito Y,Sugai K,Sasaki M

更新日期：2013-02-01 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：:Sixty patients (age-range one month to 14 years) with other types of epilepsy than infantile spasms were treated with clonazepam. Disappearance of seizures and normalization of abnormal EEG with disappearance of seizures were recognized in 77% and 50%, respectively. Seizures disappeared in 71% of the patients with gen...

journal_title：Brain & development

authors： Ishikawa A,Sakuma N,Nagashima T,Kohsaka S,Kajii N

更新日期：1985-01-01 00:00:00

abstract：:To clarify the predictive value of the seven more commonly used postural reactions (PR) in the 1st year of life regarding the diagnosis of cerebral palsy (CP), we prospectively examined 204 high-risk infants of whom 58 developed CP, 22 had developmental retardation (DR) and 124 were normal at follow-up at 3 years of a...

journal_title：Brain & development

authors： Zafeiriou DI,Tsikoulas IG,Kremenopoulos GM,Kontopoulos EE

更新日期：1998-08-01 00:00:00

abstract：INTRODUCTION:Chilaiditi syndrome is a rare pathophysiology in which the colon or other organs are interposed between the diaphragm and liver, and respiratory or digestive symptoms sometimes manifest. Although there have been some cases of Chilaiditi syndrome complicating neuromuscular disorders, none have described res...

journal_title：Brain & development

authors： Ogasawara M,Ishiyama A,Sugiura A,Segawa K,Nonaka I,Takeshita E,Shimizu-Motohashi Y,Komaki H,Sasaki M

更新日期：2018-04-01 00:00:00

abstract：:We investigated the neuroprotective effects of human placental extracts (HPE) and the effects of HPE on recovery of cognitive and behavioral function on hypoxic-ischemic brain injury in the newborn rat. The right common carotid arteries of 7-day-old rats were coagulated, and rats were then exposed to 8% oxygen. Immedi...

journal_title：Brain & development

authors： Park JY,Byeon JH,Park SW,Eun SH,Chae KY,Eun BL

更新日期：2013-01-01 00:00:00

abstract：:This report concerns a 6-year-old girl who showed peculiar symptoms but responded favourably to L-dopa. She developed normally until around 1 year of age, at which time head instability, hypotonia, increased deep tendon reflexes and choreoathetotic movements developed. These symptoms appeared to worsen in the afternoo...

journal_title：Brain & development

authors： Yoshikawa H,Araki K,Sakuragawa N,Arima M

更新日期：1991-01-01 00:00:00

abstract：:A seven-year-old girl with Krabbe disease presenting palatal myoclonus only when awake is reported. The patient was diagnosed as having Krabbe disease enzymatically at the age of eleven months. She developed rhythmical contractions of the soft palate, pharynx, larynx, lips and tongue at two years. The surface electrom...

journal_title：Brain & development

authors： Yamanouchi H,Kasai H,Sakuragawa N,Kurokawa T

更新日期：1991-09-01 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：:Severe myoclonic epilepsy in infancy (SMEI) is an age-dependent epileptic encephalopathy occurring in the first year of life and is one of the intractable epilepsies. Heterozygous mutations in the voltage-gated sodium channel alpha subunit type1 gene (SCN1A) are frequently identified in patients with SMEI; two-thirds ...

journal_title：Brain & development

authors： Kimura K,Sugawara T,Mazaki-Miyazaki E,Hoshino K,Nomura Y,Tateno A,Hachimori K,Yamakawa K,Segawa M

更新日期：2005-09-01 00:00:00

abstract：BACKGROUND:Nutritional deficiency in pregnant women is a confirmed cause of neural tube defects (NTDs). Alongside to this background, We sought to determine the nutritional status and level of awareness on the issue of the NTDs as well as folic acid (FA) utilization among women who born infants with NTDs in Tigray regi...

journal_title：Brain & development

authors： Welderufael AL,Berihu BA,Berhe Y,Magana T,Asfaw S,Gebreselassie K,Belay E,Kebede H,Mulugeta A

更新日期：2019-05-01 00:00:00

abstract：PURPOSE:To evaluate the incidence and clinical importance of brain gliomas - optic pathway gliomas (OPGs) and especially gliomas outside the optic pathway (GOOP) for children with neurofibromatosis type 1 (NF1), additionally, to assess the causes of obstructive hydrocephalus in NF1 children with an emphasis on cases ca...

journal_title：Brain & development

authors： Glombova M,Petrak B,Lisy J,Zamecnik J,Sumerauer D,Liby P

更新日期：2019-09-01 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：:Fluorescence in situ hybridization (FISH) of DNA-DNA or DNA-RNA using post-mortem brain samples is one approach to study low-level chromosomal aneuploidy and selective expression of specific genes in the brain of patients with neuropsychiatric diseases. We have performed a pilot molecular-cytogenetic analysis of post-...

journal_title：Brain & development

authors： Yurov YB,Vostrikov VM,Vorsanova SG,Monakhov VV,Iourov IY

更新日期：2001-12-01 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：OBJECTIVES:Several neurotransmitters involved in brain development are altered in fragile X syndrome (FXS), the most common monogenic cause of autism spectrum disorder (ASD). Serotonin plays a vital role in synaptogenesis and postnatal brain development. Deficits in serotonin synthesis and abnormal neurogenesis were sh...

journal_title：Brain & development

authors： AlOlaby RR,Sweha SR,Silva M,Durbin-Johnson B,Yrigollen CM,Pretto D,Hagerman RJ,Tassone F

更新日期：2017-06-01 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：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：:Eye and brain involvement in congenital muscular dystrophies (CMD) constitute a distinct group with a spectrum of brain malformations. We report two such CMD patients among our series of 58 cases with CMD. Despite known clinical and neuroradiological overlap, we tend to classify them into specific syndromes, though th...

journal_title：Brain & development

authors： Topaloğlu H,Cila A,Taşdemir AH,Saatçi I

更新日期：1995-07-01 00:00:00

abstract：:The stereotyped movement of hands, one of the core symptoms of the Rett syndrome (RS), was analyzed to study the pathophysiology. The development of hand function was delayed after mid-infancy and handedness was undetermined in most cases. Before the onset of the pathognomonic stereotypy, patients showed excessive or ...

journal_title：Brain & development

authors： Nomura Y,Segawa M

更新日期：1990-01-01 00:00:00

abstract：BACKGROUND:Children with epilepsy often show some degree of cognitive impairment. In this study, we investigated their learning skills to clarify the characteristics of the difficulties related to learning in Japanese-speaking children with focal epilepsy. METHODS:The study included 13 boys and 17 girls of mean age 9....

journal_title：Brain & development

authors： Miyazaki M,Tanaka T,Adachi Y,Miya K

更新日期：2020-10-01 00:00:00

abstract：BACKGROUND:Epilepsy is a common chronic disorder in pediatric neurology. Nowadays, a variety of antiepileptic drugs (AEDs) are available. A scientific method designed to evaluate the effectiveness of AEDs in the early stage of treatment has not been reported. PURPOSE:In this study, we try to use quantitative EEG (QEEG...

journal_title：Brain & development

authors： Ouyang CS,Chiang CT,Yang RC,Wu RC,Wu HC,Lin LC

更新日期：2018-01-01 00:00:00

abstract：:Ohtahara syndrome (OS) is characterized by frequent tonic spasms, with or without clustering, of early onset within a few months of life, and a suppression-burst (S-B) pattern in electroencephalography (EEG). Tonic spasms occur in not only waking but also sleeping state in most cases. Partial seizures are observed in ...

journal_title：Brain & development

authors： Yamatogi Y,Ohtahara S

更新日期：2002-01-01 00:00:00

abstract：:A 2-year-old boy with herpes simplex encephalitis developed diffuse brain lesions involving the white matter of both cerebral hemispheres. These lesions in the white matter were clearly observed on magnetic resonance imaging (MRI) with the T2-weighted sequence, and were found to have spontaneously disappeared on subse...

journal_title：Brain & development

authors： Tamura T,Morikawa A,Kikuchi K

更新日期：1996-03-01 00:00:00

abstract：:The British Isles Survey for Rett has registered 1,159 cases over up to 20 years. Indicators of health and severity, recorded at intervals throughout life, are drawn from clinical examinations, reports and postal questionnaires. This study aimed to establish the stability and predictive value of an early severity scor...

journal_title：Brain & development

authors： Kerr AM,Prescott RJ

更新日期：2005-11-01 00:00:00