Abstract：
:Several new histological findings in six cases of the trisomy D1 syndrome are described: hyperplasia of fetal structures (indusium griseum, median raphe of the medulla oblongata) and completely developed cerebellar cortical heterotopia in the dentate nucleus. In one case, a heterotopic pontine nucleus was found within the cerebellar white matter. The coexistence of overdeveloped and remaining fetal structures is emphasized. Several hypotheses regarding cerebellar dysgenesis are discussed.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Hori A,Peiffer J,Pfeiffer RA,Iizuka Rsubject
Has Abstractpub_date
1980-01-01 00:00:00pages
345-52issue
4eissn
0387-7604issn
1872-7131journal_volume
2pub_type
杂志文章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
pub_type： 杂志文章
doi：10.1016/0387-7604(95)00047-f
更新日期：1995-07-01 00:00:00
abstract：:A large body of experience has been compiled in different countries, documenting the efficacy of adenocorticotropic hormone (ACTH) for infantile spasms. This is important, because it may serve as a key for understanding this disorder, as well as for designing better medicines. However, significant discrepancies exist ...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(01)00308-4
更新日期：2001-11-01 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
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80311-1
更新日期：1990-01-01 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
pub_type： 杂志文章
doi：10.1016/j.braindev.2007.01.008
更新日期：2007-10-01 00:00:00
abstract：:West syndrome (WS) is associated with diverse etiological factors. This fact has suggested that there must be a 'final common pathway' for these etiologies, which operates on the immature brain to result in WS only at the maturational state present during infancy. Any theory for the pathogenesis of WS has to account f...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(01)00312-6
更新日期：2001-11-01 00:00:00
abstract：:We describe a 14-month-old girl who presented with arterial ischemic stroke due to moyamoya disease, unilateral renal agenesis and external iliac artery stenosis. The association of moyamoya disease with renal agenesis and external iliac artery stenosis has not been described before. This report expands the spectrum o...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.09.011
更新日期：2011-08-01 00:00:00
abstract：:We performed screening of beta-galactosidase-deficient fibroblasts for possible chemical chaperone therapy using N-octyl-4-epi-beta-valienamine (NOEV) in patients with GM1-gangliosidosis and Morquio B disease (beta-galactosidosis). Fibroblasts were cultured with NOEV for 4 days and beta-galactosidase activity was meas...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2006.02.002
更新日期：2006-09-01 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
pub_type：
doi：10.1016/j.braindev.2020.02.003
更新日期：2020-05-01 00:00:00
abstract：:Cat scratch disease (CSD) is a zoonotic illness caused by the Gram negative bacillus Bartonella henselae characterized by a small skin lesion at the site of a bite, lick or scratch by a cat, commonly followed by regional lymphadenopathy 1 or 2 weeks later. We report herein on severe neurological complications of CSD c...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2006.11.001
更新日期：2007-07-01 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
pub_type： 杂志文章
doi：10.1016/s0387-7604(87)80076-1
更新日期：1987-01-01 00:00:00
abstract：:The objective of this pilot study was to test the validity and reliability of a new scale, the Ability for Basic Movement Scale for Children (ABMS-C). A total of 45 pediatric patients with disabilities (aged 0.1-8.8 years; 29 males, 16 females) participated in this prospective study. To prove the validity and reliabil...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.12.001
更新日期：2011-06-01 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
pub_type： 杂志文章
doi：10.1016/s0387-7604(99)00085-6
更新日期：2000-01-01 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
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80091-x
更新日期：1992-03-01 00:00:00
abstract：:We encountered a 10-year-old girl with fluctuating sensorineural hearing loss, episodic headache, and white matter stroke. Strenuous exercise, febrile illness, and general anesthesia all temporarily worsened hearing. Audiologic findings were asymmetric: left-sided retrocochlear dysfunction consistent with auditory neu...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2005.03.012
更新日期：2006-01-01 00:00:00
abstract：:The present study was undertaken to clarify how we should assess the necessity of close follow-up in each case, when we first examine an infant with ankle clonus within the first year of life. The neurologic prognoses of 169 infants who had exhibited ankle clonus at least once during the first year of life were review...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(96)00069-1
更新日期：1997-01-01 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
pub_type：
doi：10.1016/j.braindev.2020.07.008
更新日期：2021-01-01 00:00:00
abstract：:Altered maternal micronutrients (folic acid, vitamin B(12)) are suggested to be at the heart of intra-uterine programming of adult diseases. We have recently described interactions of folic acid, vitamin B(12) and docosahexaenoic acid in one carbon metabolism that is considered to play a key role in regulation oxidati...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2011.01.002
更新日期：2012-01-01 00:00:00
abstract：:A case of the rare juvenile form of Kearns-Shy syndrome with progressive external ophthalmoplegia and lid ptosis, carditis, skeletal muscle weakness, seizures, mental subnormality, short stature, EEG abnormality and deafness is presented. Electromyography revealed a myopathic pattern. Histochemical studies on quadrice...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(84)80046-7
更新日期：1984-01-01 00:00:00
abstract：BACKGROUND:Mutations in the XPR1 gene are associated with primary familial brain calcifications (PFBC). All reported mutations are missense and inherited as an autosomal dominant trait. PFBC patients exhibited movement disorders, neuropsychiatric symptoms, and other associated symptoms with diverse severity, even withi...
journal_title：Brain & development
pub_type：
doi：10.1016/j.braindev.2020.09.014
更新日期：2021-02-01 00:00:00
abstract：PURPOSE:The aim of this study is to elucidate the clinical and neurophysiological characteristics of the myoclonic, myoclonic-astatic, or astatic seizures in patients with myoclonic-astatic epilepsy (MAE) of early childhood, and to discuss on the nosology of this unique epileptic syndrome. SUBJECTS:The subjects includ...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(01)00281-9
更新日期：2001-11-01 00:00:00
abstract：:Relative to their numbers, more than twice the number of disabled children fell victim to the Great East Japan Earthquake than did normal people. It was important to find out needs and provide support, as the needs of disabled children vulnerable to the disaster, such as a shortage of diapers of the right size for dis...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/j.braindev.2012.09.008
更新日期：2013-03-01 00:00:00
abstract：:Magnetic resonance (MR) findings in cases of total asphyxia, whose lesions are mainly in the brainstem and deep nuclei, have not been clarified. In this study, we investigated MR images in neonates with total asphyxia. MR images of six infants (three males and three females; gestational age, 35-39 weeks; birth weights...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.04.002
更新日期：2013-01-01 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
pub_type： 杂志文章
doi：10.1016/j.braindev.2005.12.004
更新日期：2006-08-01 00:00:00
abstract：:In order to elucidate the molecular mechanisms underlying neuronal migration in the developing rat cerebral cortex, a novel primary tissue culture system in which neuronal migration can be evaluated was developed. Using this culture system, through autoradiographic studies we demonstrated the migration of [3H]thymidin...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(97)00057-0
更新日期：1997-11-01 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
pub_type： 杂志文章
doi：10.1016/j.braindev.2013.01.010
更新日期：2013-09-01 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
pub_type： 杂志文章
doi：10.1016/j.braindev.2006.10.004
更新日期：2007-06-01 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
pub_type： 杂志文章
doi：10.1016/s0387-7604(83)80029-1
更新日期：1983-01-01 00:00:00
abstract：:Several studies have demonstrated the slowing effect of corticosteroids on the decline of muscle strength in Duchenne muscular dystrophy (DMD). Deflazacort (DFC) is supposed to have fewer side effects than prednisone (PRED). An ongoing double blind multicenter study is comparing the effects and side effects of deflaza...
journal_title：Brain & development
pub_type： 临床试验,杂志文章,多中心研究
doi：
更新日期：1995-01-01 00:00:00
abstract：INTRODUCTION:We performed this study to confirm the known risk factors and to identify possible new risk factors for subsequent unprovoked seizure after febrile seizure (FS) on Jeju Island, South Korea. METHODS:A population-based retrospective study of 204 children with FS, whose first FS developed between March 2003 ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2014.06.003
更新日期：2015-03-01 00:00:00
abstract：:We report seizures induced by adrenocorticotropic hormone (ACTH), which were demonstrated clinically and electro-encephalographically, in a severely handicapped 7-month-old infant with West syndrome due to perinatal hypoxicischemic encephalopathy. Although tonic spasms (original seizures) decreased soon after starting...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(89)80063-4
更新日期：1989-01-01 00:00:00
