Abstract：
:Congenital cerebellar ataxia is usually thought to be of cerebellar origin. We report two children with congenital cerebellar ataxia, in whom neuroimaging investigations suggest the possibility of a parietal etiology. The two boys showed hypotonia, delayed motor and cognitive development followed by marked, truncally pronounced ataxia. In one case infantile spasms were treated successfully with adrenocorticotropic hormone, although in follow-up the child suffered from occasional seizures. Magnetic resonance imaging showed in one case parieto-occipital pachygyria and in the other there was marked pachygyria, most pronounced over the parieto-occipital area. In both children cerebellar structures were normal. Cerebello-parietal connections are known to be responsible for acquired parietal limb ataxia. Although not proven, parietal lesions are the most likely etiology of congenital cerebellar ataxia in these two children. Therefore, cerebral, especially parietal pathology must be considered in children with congenital ataxia.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Steinlin M,Schmitt B,Ferrini Bdoi
10.1016/s0387-7604(98)00021-7subject
Has Abstractpub_date
1998-06-01 00:00:00pages
242-4issue
4eissn
0387-7604issn
1872-7131pii
S0387760498000217journal_volume
20pub_type
杂志文章abstract：:Rett syndrome (RTT) is a neurodevelopmental disorder that is one of the most common causes of mental retardation in females. RTT diagnosis is based on distinct clinical criteria. We describe here a female patient with severe phenotype of congenital variant RTT. The patient originally presented with severe developmenta...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2011.09.014
更新日期：2012-08-01 00:00:00
abstract：:We report an 11-yr-old girl who visited the outpatient department of Islamabad Children's Hospital with uncontrolled seizures, psychomotor retardation and hand washing movements since early childhood. She had an uneventful peri- and neonatal history with a normal head size at birth and fulfilled the criteria of classi...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80045-3
更新日期：1991-11-01 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
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.07.013
更新日期：2011-06-01 00:00:00
abstract：OBJECTIVE:To evaluate the efficacy and safety of intravenous (i.v.) thiamylal in pediatric magnetic resonance imaging (MRI) sedation. METHODS:Infants and children from 1 month up to 8 years of age who underwent MRI in our hospital between April 2017 and March 2019 were included in this prospective observational study....
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2020.04.005
更新日期：2020-08-01 00:00:00
abstract：:The efficacy, serum concentration and side effects of CBZ for partial seizures in children were evaluated. The study was undertaken on 27 patients with partial seizures ranging from 5 to 17 years of age. Further 15 patients with various types of epilepsy taking CBZ with other anticonvulsants were selected as controls ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(79)80017-0
更新日期：1979-01-01 00:00:00
abstract：OBJECTIVE:This study was conducted to describe the natural course of tic disorders over a long period of time in Japanese adults patients with Tourette's syndrome (TS) in terms of symptomatology. METHODS:An extensive literature on TS cases was reviewed selectively and 31 TS patients (mean age: 31.4 years; sex: 28 male...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(03)90006-4
更新日期：2003-12-01 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
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80299-3
更新日期：1991-01-01 00:00:00
abstract：:A 6-month-old girl developed West syndrome and it remitted in association with valproate-induced hepatic dysfunction. Plasma -alanine elevated after valproate hepatotoxicity, which seemed to be a possible cause of remission. The patient has been seizure-free with normal electroencephalogram for 12 months without any a...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(02)00037-2
更新日期：2002-06-01 00:00:00
abstract：:CLCN2-related leukoencephalopathy (CC2L) is a rare autosomal recessive disorder caused by variants in CLCN2. We report a boy whose brain MRI during an episode of aseptic meningitis at the age of 6 years revealed wide areas of restriction on diffusion-weighted images (DWI) in the cerebral subcortical white matter calle...
journal_title：Brain & development
pub_type：
doi：10.1016/j.braindev.2020.02.008
更新日期：2020-06-01 00:00:00
abstract：:Spasms are a form of epileptic seizure typical of infancy. From a clinical point of view, the child presents a flexor-extensor movement involving the trunk and limbs and lasting about 1s. Although asymmetry can be present, the seizure involves both sides of the body. The ictal discharge most frequently associated with...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(01)00284-4
更新日期：2001-11-01 00:00:00
abstract：:Bedside monitoring of cerebral circulation or oxygen metabolism in infants to appropriately manage circulation and establish the oxygen dose, aiming at improving the neurological prognosis, is needed in general clinical practice. Near-infrared spectroscopy is used for measurements of neonatal cerebral Hb oxygen satura...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/j.braindev.2013.05.011
更新日期：2014-04-01 00:00:00
abstract：:In 48 families in which tuberous sclerosis occurred, extensive examination presented almost the same incidence of sporadic cases as reported in previous studies. Although inspection of the skin and cranial computed tomography seem to be the most sensitive diagnostic tests available, negative results with these methods...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(80)80031-3
更新日期：1980-01-01 00:00:00
abstract：PURPOSE:Polymicrogyria, a malformation of the cerebral cortex, frequently causes epilepsy. Diffuse bilateral polymicrogyria (DBP) is related to poor epilepsy prognosis, but most patients with DBP are not good candidates for resective epilepsy surgery and effectiveness of corpus callosotomy (CC), a palliative surgery, f...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2018.03.007
更新日期：2018-09-01 00:00:00
abstract：:This paper reports 504 cases admitted with acute polyradiculoneuritis (AP) to Beijing Children's Hospital from 1975 through 1984. 343 of the 504 cases (68.1%) with AP had respiratory paralysis and in 198/504 (39.3%), tracheotomy was performed. In this study, none of the patients received steroids. We attempted to asse...
journal_title：Brain & development
pub_type： 杂志文章
doi：
更新日期：1988-01-01 00:00:00
abstract：:Actinomycosis is a rare, chronic, suppurative, and slowly progressive granulomatous disease caused by a group of filamentous gram-positive anaerobic bacteria belonging to the normal flora of the oral cavity, gastrointestinal, and genitourinary tracts. It may involve several organs; however, spinal cord compression has...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2013.08.002
更新日期：2014-08-01 00:00:00
abstract：:Monitoring brain function by EEG is an important means of preventing cerebral insults in pediatric cardiovascular surgery. We studied intraoperative EEG changes and their regional differences associated with hypothermia and brain ischemia. The subjects of this study consisted of 13 children ranging in age from 4 month...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(01)00192-9
更新日期：2001-03-01 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
pub_type： 杂志文章
doi：10.1016/j.braindev.2006.09.012
更新日期：2007-06-01 00:00:00
abstract：:Hereditary progressive dystonia (HPD) with marked diurnal fluctuation is caused by mutant guanosine triphosphate (GTP) cyclohydrolase I (GCH). The clinical presentation of dominant HPD varies considerably. We proposed the hypothesis that a relative increase of mutant GCH capable of inhibiting normal GCH is responsible...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(00)00135-2
更新日期：2000-09-01 00:00:00
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
pub_type： 杂志文章
doi：10.1016/S0387-7604(03)00125-6
更新日期：2004-04-01 00:00:00
abstract：OBJECTIVE:Very preterm (VP) children are at risk for social difficulties, including autism spectrum disorder (ASD). This study used eye tracking to determine viewing behaviors that may reflect these difficulties. DESIGN:The gaze patterns of 47 VP (mean gestational age: 28weeks, mean birth weight: 948g, and mean chrono...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2016.10.001
更新日期：2017-03-01 00:00:00
abstract：:Griscelli syndrome is a rare autosomal-recessive disorder characterised by partial albinism, immunodeficiency, organomegaly and accelerated phases. During accelerated phases, pancytopenia, haemophagocytosis, hypoproteinemeia occur which may be accompanied by neurological deterioration. Primary neurological presentatio...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2006.09.007
更新日期：2007-05-01 00:00:00
abstract：:Oxidative stress resulting from increased free radical production and/or defects in antioxidant defences may be the cause of various neurodegenerative disorders. In this study, the roles of oxygen free radicals, nitric oxide, superoxide dismutase, vitamin E and vitamin C were investigated in pure and complicated hered...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2008.12.014
更新日期：2010-02-01 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
pub_type： 杂志文章
doi：10.1016/j.braindev.2006.08.008
更新日期：2007-04-01 00:00:00
abstract：:Infarct locations in children with arterial ischemic stroke have primarily been reported to be lobar or in the basal ganglia, and those in patients with Down syndrome (DS) and antiphospholipid syndrome (APS) are typically wide and multiple. No solitary brain stem infarctions have ever been reported in children with DS...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2019.02.013
更新日期：2019-06-01 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：OBJECTIVE:To analyze the electroclinical features of children with childhood absence epilepsy (CAE) and discuss the diagnostic criteria for CAE. METHODS:The video-electroencephalogram (VEEG) database in our hospital was searched using "absence seizures" and "3-Hz generalized spike and waves (GSW)" as key-words. Other ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.02.004
更新日期：2011-02-01 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
pub_type： 杂志文章
doi：10.1016/s0387-7604(86)80117-6
更新日期：1986-01-01 00:00:00
abstract：OBJECTIVE:The aim of this study was to develop and introduce new method to quantify motor functions of the upper extremity. METHODS:The movement was recorded using a three-dimensional motion capture system, and the movement trajectory was analyzed using newly developed two indices, which measure precise repeatability ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2017.12.003
更新日期：2018-03-01 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：:MPS type II (Hunter disease) results from deficiency of the lysosomal enzyme iduronate-2-sulfate sulfatase. Two forms of the disease have been recognized, based on absence or presence of progressive intellectual deterioration. This study aimed to assess activities of daily life (ADL) in 27 Hunter disease-affected Japa...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2006.08.015
更新日期：2007-06-01 00:00:00
