Abstract:
:Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. Presentation is usually in the neonatal period or infancy but can occur at any time, even in adulthood. Seizures are frequent symptom in inborn errors of metabolism, with no specific seizure types or EEG signatures. The diagnosis of a genetic defect or an inborn error of metabolism often results in requests for a vast array of biochemical and molecular tests leading to an expensive workup. However a specific diagnosis of metabolic disorders in epileptic patients may provide the possibility of specific treatments that can improve seizures. In a few metabolic diseases, epilepsy responds to specific treatments based on diet or supplementation of cofactors (vitamin-responsive epilepsies), but for most of them specific treatment is unfortunately not available, and conventional antiepileptic drugs must be used, often with no satisfactory success. In this review we present an overview of metabolic epilepsies based on various criteria such as treatability, age of onset, seizure type, and pathogenetic background.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Papetti L,Parisi P,Leuzzi V,Nardecchia F,Nicita F,Ursitti F,Marra F,Paolino MC,Spalice Adoi
10.1016/j.braindev.2012.11.010subject
Has Abstractpub_date
2013-10-01 00:00:00pages
827-41issue
9eissn
0387-7604issn
1872-7131pii
S0387-7604(12)00299-9journal_volume
35pub_type
杂志文章,评审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::A 5-year-old female case of 5p-syndrome exhibited pontine hypoplasia on magnetic resonance imaging. A high-pitched cry characteristic of 5p-syndrome disappeared after 2 years. 5p-syndrome should be considered as a differential diagnosis for brainstem, especially pontine, hypoplasia. Older patients with brainstem hypop...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2009.07.003
更新日期:2010-08-01 00:00:00
abstract::Midazolam is a relatively new anticonvulsive agent in the benzodiazepine group. It has a short onset of duration and is practical for use, providing several alternatives such as intravenous, intramuscular, and intranasal routes. The buccal route could be an alternative choice for seizure control in an emergency settin...
journal_title:Brain & development
pub_type: 临床试验,杂志文章
doi:10.1016/s0387-7604(02)00230-9
更新日期:2003-06-01 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::We are presenting two cases with subacute sclerosing panencephalitis of acute and rapid form, which were initially diagnosed as acute viral encephalitis. We obtained both diffusion-weighted imaging and magnetic resonance spectroscopy, whose findings suggested the presence of acute inflammatory and metabolic changes wi...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2006.09.013
更新日期:2007-06-01 00:00:00
abstract::Neuromyelitis optica (NMO) is an inflammatory demyelinating disease with a poor prognosis that is characterized by inflammatory optic neuritis and myelitis. Although it is commonly misdiagnosed as multiple sclerosis (MS), distinguishing NMO from MS is important, as therapeutic approaches approved for MS are ineffectiv...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2014.03.015
更新日期:2015-01-01 00:00:00
abstract::This trial sought to evaluate our experience using the antimigraine prophylactic drug, use of valproate for the prophylactic management of cyclic vomiting syndrome (CVS) in children. Thirteen children diagnosed with severe CVS were enrolled. Prophylactic therapy consisted of valproate administered at a dose of 10-40 m...
journal_title:Brain & development
pub_type: 临床试验,杂志文章
doi:10.1016/j.braindev.2008.07.005
更新日期:2009-06-01 00:00:00
abstract::The severity of intellectual sequelae and prognosis varies in patients with congenital ocular motor apraxia (COMA). Here, we explored this phenomenon with regard to the accompanying oculomotor signs and gross motor development, as well as the subtentorial structure defects. Ten patients diagnosed with COMA (M:F=4:6, 4...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2007.01.002
更新日期:2007-08-01 00:00:00
abstract:PURPOSE:We performed this study to evaluate the long-term efficacy and tolerability of ethosuximide (ESX), valproic acid (VPA), and lamotrigine (LTG) as initial monotherapies for patients with newly diagnosed childhood absence epilepsy. METHODS:We retrospectively reviewed the medical records of 128 patients (45 boys a...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2011.08.007
更新日期:2012-05-01 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::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::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:INTRODUCTION:Primary pseudotumor cerebri (PTC) in childhood is a rare but important differential diagnosis in children presenting with papilledema. It is defined as elevated cerebrospinal fluid (CSF) pressure of more than 20 cm H(2)O, normal CSF composition, and exclusion of underlying structural or systemic causes. Vi...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2005.07.003
更新日期:2006-04-01 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::The present study analyzed changes in cerebral blood volume (CBV) during apnea associated with hypoxia compared to apnea without hypoxia. Hypoxia was defined as pulsoxymetric oxygen saturation <80%>10 s. The employed technique was near infrared spectroscopy combined with electrocardiogram, electroocologram, pulsoxymet...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(02)00121-3
更新日期:2003-01-01 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
pub_type: 杂志文章
doi:10.1016/j.braindev.2008.12.013
更新日期:2009-11-01 00:00:00
abstract:AIM:We aimed to establish objective and quantitative data on fine motor development in typically developing children using magnetic sensors. METHODS:The study included 110 Japanese elementary school children volunteers (57 boys, 53 girls). The participants were instructed to tap their thumbs and index fingers together...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2020.03.004
更新日期:2020-06-01 00:00:00
abstract::Intranuclear rod myopathy (IRM), a variant of nemaline myopathy, is characterized by the presence of nemaline bodies in myonuclei. We report a case of IRM presenting with hypoxic ischemic encephalopathy (HIE). There were no prenatal complications caused by fetal brain injury. Although no nemaline bodies were observed ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2014.04.002
更新日期:2015-02-01 00:00:00
abstract::Blink reflex can be elicited by sudden strong auditory stimulation. Using a special transducer wer recorded this reflex which appears as a microvibration of the eyelid, and named it auditory-evoked eyelid microvibration (AMV). As the reflex pathway of AMV exists in the brainstem, AMV is an easy and useful way of knowi...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(84)80009-1
更新日期:1984-01-01 00:00:00
abstract:OBJECTIVE:Patients with Tourette syndrome (TS) often report characteristic sensory experiences, also called premonitory urges (PUs), which precede tic expression and have high diagnostic relevance. This study investigated the usefulness of a scale developed and validated in children and adolescents-the Premonitory Urge...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2012.12.010
更新日期:2014-01-01 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::Two cases of status epilepticus are reported, whose seizures responded well to the injection of flunitrazepam. One patient had generalized tonic clonic seizures and the other had partial seizures. The improvement of their condition was confirmed by both clinical and electroencephalographic examinations. There were no ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(88)80066-4
更新日期:1988-01-01 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::The developmental changes in N-acetyl-L-aspartic acid (NAA) were assessed in human fetal and child brains by means of high resolution proton magnetic resonance spectroscopy (MRS). NAA was detected in the cerebral cortex and white matter of fetuses of 16 weeks' gestation. NAA increased gradually from 24 weeks' gestatio...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(96)00496-2
更新日期:1997-03-01 00:00:00
abstract::A 5-year-old boy with acute cerebellar ataxia was examined by means of magnetic resonance imaging (MRI) and was found to have a lesion showing low and high signal intensity in T1- and T2-weighted images, respectively, in the left cerebellar peduncle in the acute phase. The lesion disappeared in the convalescent phase....
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(89)80032-4
更新日期:1989-01-01 00:00:00
abstract::Although a large amount of cholesterol is known to be needed for brain maturation and differentiation, cholesterol metabolism during these periods remains unclear. To elucidate the developmental regulation of cholesterol metabolism in the brain, we investigated the expression of 3-hydroxy-3-methyglutaryl-coenzyme A (H...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(00)00129-7
更新日期:2000-08-01 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
pub_type: 杂志文章
doi:10.1016/j.braindev.2019.07.010
更新日期:2020-01-01 00:00:00
abstract::We studied the relationship between theophylline and memory/learning using an elevated plus-maze test and measuring spontaneous locomotor activity in developing mice. There were no significant differences in transfer latency (TL) in 21-, 30- and 42-day-old mice in the acquisition trial, but theophylline significantly ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2003.12.008
更新日期:2004-10-01 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
pub_type: 杂志文章
doi:10.1016/j.braindev.2015.08.004
更新日期:2016-02-01 00:00:00
abstract::713 children (from newborn to 12-month-old) with delayed motor development were carefully examined and classified into normal, very light cerebral coordination disturbance (CCD, Vojta), light CCD, moderate CCD, severe CCD, suspected cerebral palsy (CP) and other diseases at their first visit, and were followed up care...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(83)80024-2
更新日期:1983-01-01 00:00:00