Abstract：
:The molybdenum cofactor is essential for the function of sulphite oxidase, xanthine dehydrogenase, and aldehyde oxidase enzymes. Molybdenum cofactor deficiency (MoCD) is a fatal disease resulting in severe neurological damage and death in early childhood. MoCD is an autosomal recessive condition which may mimic ischaemic encephalopathy. Although milder cases with later onset and less severe symptoms have been identified, the classic presentation involves neonatal seizures, progressive encephalopathy and death at an early age. There is currently no effective therapy, and the prognosis is poor. The disorder should be considered in all cases of intractable seizures in the newborn period and infants with clinical and radiological features of ischaemic encephalopathy, especially when no obvious lesion is detected. Blood uric acid measurement should be included in the battery of tests to be performed in all neonates' refractory seizures. We reported here an infant with MoCD who presented with hypoxic ischaemic encephalopathy and identified a novel mutation, c.130C>T in cDNA of the MOCS2 gene from the infant.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Per H,Gümüş H,Ichida K,Cağlayan O,Kumandaş Sdoi
10.1016/j.braindev.2006.10.007subject
Has Abstractpub_date
2007-07-01 00:00:00pages
365-8issue
6eissn
0387-7604issn
1872-7131pii
S0387-7604(06)00242-7journal_volume
29pub_type
杂志文章abstract：:Valproic acid (VPA) is a widely used and well-tolerable antiepileptic drug in epileptic patients. However, VPA has many side effects dose-dependent or non-dose-dependent. It is reported that VPA treatment may lead to biotin deficiency and low serum and liver tissue biotinidase enzyme activity (BEA). Major clinical man...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2008.07.008
更新日期：2009-06-01 00:00:00
abstract：:Congenital neuromuscular disease with uniform type 1 fibers is a rare form of congenital nonprogressive myopathy. We report a 3-year-old boy with this disease who showed delayed motor developmental milestones and recurrent acute respiratory failure. He obtained head control at 16 months, crawled at 17 months and sat a...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2005.06.008
更新日期：2006-04-01 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：: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：BACKGROUND:The potassium voltage-gated channel subfamily Q member 2 (KCNQ2) gene has been reported to be associated with various types of epilepsy, including benign familial neonatal seizure (BFNS), early infantile epileptic encephalopathy (EIEE), and unclassified early onset encephalopathies. We herein report a patien...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2017.06.004
更新日期：2018-01-01 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：: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：BACKGROUND:Germline mutations of the PTEN gene are responsible for several PTEN hamartoma tumor syndromes. They are also implicated as a cause of macrocephaly and mild to severe developmental delay, regardless of the presence or absence of hamartomas in childhood. Nevertheless, because of limited information, the clini...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2018.04.008
更新日期：2018-09-01 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：BACKGROUND:Acute disseminated encephalomyelitis (ADEM) is clinically characterized by the acute onset of neurological symptoms after a viral infection or immunization, and is thought to represent an autoimmune disease directed against myelin. Tau protein is a phosphorylated microtubule-associated protein, primarily loc...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.11.013
更新日期：2014-01-01 00:00:00
abstract：:The recent advances in neonatal neurology which are discussed include i) the improved organization of perinatal medical services, ii) technological advances including ultrasonography, brainstem auditory evoked responses and intracranial pressure monitoring and, iii) new developments in therapeutics. The development of...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(84)80095-9
更新日期：1984-01-01 00:00:00
abstract：:Choline kinase beta gene (CHKB) mutations have been identified in Megaconial Congenital Muscular Dystrophy (MDCMC) patients, a very rare inborn error of metabolism with 21 cases reported worldwide. We report the case of a Spanish boy of Caucasian origin who presented a generalized congenital muscular hypotonia, more i...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2015.05.008
更新日期：2016-01-01 00:00:00
abstract：:Microdeletions in the 1q44 region encompassing the HNRNPU gene have been associated with infantile spasms and hemiconvulsion-hemiplegia-epilepsy syndrome. Recent studies have revealed that heterozygous HNRNPU variants resulted in early onset epilepsy and severe intellectual disability. A de novo frameshift mutation in...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2018.05.010
更新日期：2018-10-01 00:00:00
abstract：:Moyamoya syndrome is a chronic, progressive occlusion of cerebrovascular arteries that leads to the development of characteristic collateral vessels. It is usually accompanied with sickle cell disease and other hemoglobinopathies. We report a 7-year-old boy, who admitted to our clinic with headache, diagnosed as moyam...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2013.07.010
更新日期：2014-06-01 00:00:00
abstract：PURPOSE:The study aims to detect the polymorphisms in uridine diphosphate glucuronyl transferase (UGT) 2B7∗2 and investigate the corresponding effects on the blood concentrations of valproic acid (VPA) and carbamazepine (CBZ). METHODS:A chemiluminescence immunoassay analyzer was used to detect the plasma concentration...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2017.09.004
更新日期：2018-02-01 00:00:00
abstract：:In 1908 a Viennese remedial educator Theodor Heller described six children under the name of dementia infantilis who had insidiously developed a severe mental regression between the 3rd and 4th years of life after normal mental development. Neuropathological and other medical conditions are sometimes associated with t...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(02)00228-0
更新日期：2003-06-01 00:00:00
abstract：:We report an autopsy case of bathtub drowning in epilepsy. A 26-year-old female with mental retardation had been treated for refractory epilepsy. Her younger sister found her floating supine in the bathtub 45 min after starting bathing. Neuropathological examination revealed cerebral cortical dysplasia in the precentr...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(97)00064-8
更新日期：1997-11-01 00:00:00
abstract：:Serial changes of MRI scanning of an 11-year-old boy with hemiparesis due to a germ cell tumor in the basal ganglia are presented. Initial brain MRI T1-weighted images revealed a subtle mixed signal intensity lesion at left anterior and posterior limbs of the internal capsule. This lesion was not enhanced with Gd-DTPA...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(93)90024-3
更新日期：1993-07-01 00:00:00
abstract：:The sleep patterns of children often cause anxiety to their parents. Some disturbances are unusual, and therefore may cause diagnostic difficulties. Sleep walking and night terrors can be confused with epileptic seizures. The sudden sleep of narcolepsy can lead to false accusations, when in fact the episodes are beyon...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(12)80262-2
更新日期：1992-05-01 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：:Glutamic acid decarboxylase (GAD) activity in the cerebrospinal fluid (CSF) of normal infants (n:14) and children (n:28) was determined by measuring the amount of 14CO2 released from L-[1-14C]-glutamic acid. The mean GAD activity in CSF of infants and children was 5.2 +/- 2.5 pmol CO2 formed/hr/ml. Dividing these subj...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(83)80079-5
更新日期：1983-01-01 00:00:00
abstract：BACKGROUND:The underlying genetic abnormalities of rare familial idiopathic epilepsy have been identified, such as mutation in KCNQ2, a K(+) channel gene. Yet, few genetic abnormalities have been reported for commoner epilepsy, i.e., sporadic idiopathic epilepsy, which share a phenotype similar to those of familial epi...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2008.05.010
更新日期：2009-01-01 00:00:00
abstract：BACKGROUND:The pathogenesis of acute encephalopathy (AE) remains unclear, and a biomarker has not been identified. METHODS:Levels of 49 cytokines and chemokines, including osteopontin (OPN), were measured in serum and cerebrospinal fluid (CSF) of children with AE (n = 17) or febrile convulsion (FC; n = 8; control grou...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2019.11.002
更新日期：2020-02-01 00:00:00
abstract：BACKGROUND:Amplitude-integrated electroencephalogram (aEEG) at <6 h is the best single outcome predictor in term infants with perinatal asphyxia at normothermia. Hypothermia treatment has changed the cutoff values for outcome prediction by using time at onset of normal trace and SWC. Cerebral hemodynamics and oxygenati...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2011.06.005
更新日期：2012-04-01 00:00:00
abstract：:Adrenocorticotropic hormone (ACTH) has been the first-line drug for the treatment of West syndrome, although the therapy has various adverse effects. ACTH depresses resistance to a variety of bacterial, viral, protozoal, and fungal agents. The timing of the various vaccinations is delayed after ACTH therapy in Japan, ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2008.11.007
更新日期：2009-11-01 00:00:00
abstract：:We present a unique 11-year-old girl showing clinical features of Rett-related disorder with distinctive facial features and multiple congenital anomalies including ocular hypertelorism, arched eyebrows, a broad nose, dental anomalies, congenital heart disease, truncal obesity, and epilepsy. A novel de novo mutation i...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2017.12.013
更新日期：2018-05-01 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：PURPOSE:The aim of the present study was to investigate the correlation between epileptiform discharges on EEGs after febrile seizures and the prognosis of patients in terms of the development of epilepsy and recurrence of febrile seizures. This study also evaluated the characteristics of epileptiform discharges and EE...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.07.014
更新日期：2013-04-01 00:00:00
abstract：:We present the clinical and neuropathological findings in a female patient with early onset Cockayne syndrome and a chromosomal anomaly (47XXX). The girl was the only child of healthy, unrelated parents. She was born with a birth weight of 1,930 gm. She had progeroid facial features with bilateral cataracts. A diagnos...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80282-8
更新日期：1992-01-01 00:00:00
abstract：:Becker muscular dystrophy (BMD) was diagnosed in a male patient with Klinefelter's syndrome (47, XXY karyotype). The BMD was confirmed by (i) immunohistological methods and Western blotting, showing decreased quantity of dystrophin in muscle biopsy specimen and (ii) molecular genetic analysis which demonstrated a homo...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(97)00032-6
更新日期：1997-07-01 00:00:00
