Abstract：
:Glucose transporter type I deficiency syndrome (GLUT-1 DS) is an inborn error of glucose transport characterized by seizures, developmental delay, spasticity, acquired microcephaly and ataxia. Diagnosis is based on the finding of low cerebrospinal fluid glucose, in the absence of hypoglycemia, and identification of GLUT-1 gene mutation on chromosome 1. The classic phenotype is a severe form of early onset epileptic encephalopathy, but patient with different clinical presentation have been reported expanding the clinical spectrum. In particular, many patients show a prominent movement disorder other than epilepsy. It is known that this disease represents a treatable condition and ketogenic diet (KD) is the elective treatment in GLUT-1 DS patients. We report on KD in three unrelated Italian GLUT-1 DS female patients, diagnosed in early adulthood, all presenting with an atypical phenotype. Preliminary results seem to demonstrate efficacy of KD on paroxysmal movement disorder while positive effect on cognitive impairment result less evident.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Veggiotti P,Teutonico F,Alfei E,Nardocci N,Zorzi G,Tagliabue A,De Giorgis V,Balottin Udoi
10.1016/j.braindev.2009.04.013subject
Has Abstractpub_date
2010-05-01 00:00:00pages
404-8issue
5eissn
0387-7604issn
1872-7131pii
S0387-7604(09)00159-4journal_volume
32pub_type
杂志文章abstract：:The developmental expression of monocyte chemoattractant protein-1 (MCP-1) in the cerebellum, medulla oblongata and pons was investigated in 26 normal human brains, ranging from 20 weeks of gestation (GW) to adulthood by means of an immunohistochemical method. Immunoreactivity to MCP-1 was observed in neurons of the c...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(98)00065-5
更新日期：1999-01-01 00:00:00
abstract：:We measured neopterin, biopterin and nitric oxide (NO) concentrations in the cerebrospinal fluid of pediatric patients with central nervous system (CNS) infectious diseases. The nitric oxide and neopterin concentrations were significantly elevated in encephalitis patients, especially in two cases with serious neurolog...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(02)00217-6
更新日期：2003-04-01 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：:Oral motor patterns during feeding were investigated in 58 patients with severe physical disability. Five patients showed a pattern resembling sucking. Twenty-nine exhibited an up-and-down movement of the jaw and protrusion of the tongue. Among these, the mouth opened when the food entered and the lips closed before s...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(97)00077-6
更新日期：1997-12-01 00:00:00
abstract：:The occurrence of seizures in patients with fragile X syndrome (Fra-X) is reported. Among the 30 patients, six had epilepsy that was particularly severe and two also showed atypical facial dysmorphism that was different from that seen in classical Fra-X. From the study performed in this series of Fra-X patients the au...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(02)00102-x
更新日期：2002-12-01 00:00:00
abstract：:Oxidative stress plays an important role in cystic periventricular leukomalacia (PVL). We performed a case-control study of preterm infants delivered at <35 weeks of gestation between January 2003 and December 2006. Patients were stratified into three groups, according to age at which cysts were initially identified: ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2008.10.008
更新日期：2009-10-01 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
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80154-9
更新日期：1992-09-01 00:00:00
abstract：:Tourette's syndrome is manifested in a broad spectrum of motor, vocal, and behavioral disturbances. Movement disorders, such as tics, may contribute to the development of cervical myelopathy owing to the effects of involuntary movements on the neck. However, the association of cervical myelopathy with motor tics of th...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2006.05.009
更新日期：2007-03-01 00:00:00
abstract：:Hypoxic ischemic brain can result in cerebral palsy, mental retardation, and learning disabilities in surviving children. The purpose of this study was to elucidate the cerebral blood flow volume in infants complicated with brain damage after the birth. Nine term infants with hypoxic ischemic encephalopathy and 41 nor...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2007.08.008
更新日期：2008-04-01 00:00:00
abstract：OBJECTIVE:To clarify changes in clinical practice for infantile spasms, including West syndrome, in Japan over the past two decades. METHODS:We investigated common treatment strategies for infantile spasms among 157 pediatric neurologists from a designated training facility for pediatric neurology and/or a designated ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2018.04.006
更新日期：2018-09-01 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：:We report a 2-month-old boy who presented with apneic attacks as a manifestation of epileptic seizures at onset and eventually progressed to infantile spasms. At onset, at 2 months of age, apneic attacks were the sole symptom of epileptic fits. Although these seizures were accompanied by cyanosis, bradycardia was not ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(95)00148-4
更新日期：1996-05-01 00:00:00
abstract：:Neurofibromatosis type 2 (NF2) is an autosomal dominant multiple neoplasia syndrome of the central nervous system. The aim of the present study was to characterize the clinical course of early onset NF2. The specific Japanese disease registry for NF2 in 2010 was analyzed retrospectively. The male:female ratio for the ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2013.01.007
更新日期：2014-02-01 00:00:00
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 ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(98)00021-7
更新日期：1998-06-01 00:00:00
abstract：:This report describes a 60-year-old female patient with Krabbe disease who presented with slowly progressive gait disturbance due to mild spastic paraplegia. Brain magnetic resonance imaging showed high-intensity lesions along the upper parts of the bilateral pyramidal tracts in fluid-attenuated inversion recovery ima...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.08.004
更新日期：2013-06-01 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：:Communicating hydrocephalus was inadvertently induced in a neonate by bilateral jugular vein catheterization. Removal of one catheter resulted in return to normal ventricular size within 14 days. The complication of hydrocephalus from bilateral jugular vein catheterization can be reversed by prompt removal of one cath...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(82)80026-0
更新日期：1982-01-01 00:00:00
abstract：BACKGROUND:The abducens nucleus directly innervates the lateral rectus muscle and plays a role in controlling conjugate horizontal eye movements. Although the neuronal cytoarchitecture of the abducens nucleus has been extensively investigated in various species of vertebrates, few studies have been undertaken in humans...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2011.12.009
更新日期：2012-10-01 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：:The purpose of this study was to evaluate the ability of the test of variables of attention (TOVA) to distinguish between 6- to 12-year-old Japanese male children with attention deficit hyperactivity disorder (ADHD group; n=17) meeting DSM-IV and ICD-10 criteria, and age-matched, normal Japanese male controls (control...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(00)00168-6
更新日期：2000-09-01 00:00:00
abstract：:Transmission of information in the brain is of a chemical nature. Neurotransmitters are present at very early stages of brain development, having trophic effects on maturation of target neurons as well as mediating the behavioral repertoire of the immature brain. Many centrally acting psychoactive drugs which are comm...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(86)80058-4
更新日期：1986-01-01 00:00:00
abstract：:Bickerstaff's brainstem encephalitis (BBE) is a rare immune-mediated disorder characterized by ophthalmoplegia, ataxia and disturbance of consciousness, which may overlap with Guillain-Barré syndrome (GBS) if there is additional limb weakness. We report a 7-month-old boy presented with ophthalmoplegia followed by a ra...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2018.02.001
更新日期：2018-06-01 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
pub_type： 杂志文章
doi：10.1016/j.braindev.2017.11.001
更新日期：2018-04-01 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：:Eighteen children with diplegic form of cerebral palsy (CP) underwent magnetic resonance imaging (MRI) because of the enlarged occipital horns of both lateral ventricles found on previous computerized tomography (CT). In 16 of them squint was present. MRI in flow attenuated inversion recovery (FLAIR) and turbo spin ec...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(01)00178-4
更新日期：2001-03-01 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：:We report the pedigree of a family in which a mother and her two children, a boy and a girl, all suffer from a similar, though variably expressed cerebral disorder, seen on CT as uni- or bilateral cavities within the supratentorial white matter in communication with the ventricular system. Additional white matter hypo...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(84)80010-8
更新日期：1984-01-01 00:00:00
abstract：:The discovery of nerve growth factor (NGF) over 40 years ago led to the formulation of the "Neurotrophic Factor Hypothesis". This hypothesis states that developing neurons compete with each other for a limited supply of a neurotrophic factor (NTF) provided by the target tissue. Successful competitors survive; unsucces...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/0387-7604(96)00051-4
更新日期：1996-09-01 00:00:00
abstract：:We present the case of a Japanese male infant with Alexander disease who developed infantile spasms at 8 months of age. The patient had a cluster of partial seizures at 4 months of age. He presented with mild general hypotonia and developmental delay. Macrocephaly was not observed. Brain magnetic resonance imaging (MR...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.06.009
更新日期：2013-05-01 00:00:00
