Abstract：
:21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia, an autosomal recessive disorder characterized by impaired synthesis of cortisol from cholesterol by the adrenal cortex. Subclinical involvement of brain white matter has been reported in subjects with congenital adrenal hyperplasia. Here we report a woman with a genetically assessed classic congenital adrenal hyperplasia and brain white matter abnormalities. Both the carrier parents also showed signs of leucoencephalopathy. Common causes of leukoencephalopathy were excluded by appropriate analyses. Our observation suggests that white matter anomalies may also be present in carriers of a mutation in the CYP21 gene. We therefore suggest performing CYP21 gene analysis in subjects with brain MRI evidence of white matter abnormalities that cannot otherwise be explained.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Gaudiano C,Malandrini A,Pollazzon M,Murru S,Mari F,Renieri A,Federico Adoi
10.1016/j.braindev.2009.04.004subject
Has Abstractpub_date
2010-05-01 00:00:00pages
421-4issue
5eissn
0387-7604issn
1872-7131pii
S0387-7604(09)00130-2journal_volume
32pub_type
杂志文章abstract：:Fifty-one consecutive adult patients with epilepsy and early development destructive brain lesions were divided into three main groups according to the topographic distribution of the lesion on magnetic resonance imaging: hemispheric (H) (n=9); main arterial territory (AT) (n=25) and arterial borderzone (Bdz) (n=17). ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(03)00065-2
更新日期：2003-12-01 00:00:00
abstract：:From 1971 to 1978, 5,202 schoolchildren from the first to the 9th grade underwent mass screening EEG. Paroxysmal discharges were recognized in 1.7%. Focal paroxysmal discharges appeared most frequently and the temporal, occipital, and central areas were the most common sites. Children having autonomic seizures, psycho...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(81)80054-x
更新日期：1981-01-01 00:00:00
abstract：:We report on the clinical, neuropathological, and genetic findings of a Japanese case with myocerebrohepatopathy spectrum (MCHS) disorder due to polymerase gamma (POLG) mutations. A girl manifested poor sucking and failure to thrive since 4 months of age and had frequent vomiting and developmental regression at 5 mont...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2014.10.013
更新日期：2015-08-01 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：:A cDNA encoding for rat synapsin I, a neuron-specific protein localized on the cytoplasmic surface of synaptic vesicles and probably involved in the regulation of neurotransmitter release from nerve terminals, has been used to map the human gene to the short arm of the X chromosome. We have screened, using this cDNA, ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80195-1
更新日期：1990-01-01 00:00:00
abstract：OBJECTIVE:Acute encephalitis with refractory repetitive partial seizure (AERRPS) is a peculiar type of post-encephalitic/encephalopathic epilepsy. Here we report an analysis of AERRPS in a series of children and propose an effective treatment option for seizure control in these children. METHODS:We retrospectively rev...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2008.09.010
更新日期：2009-09-01 00:00:00
abstract：:Herpes simplex encephalitis (HSE) is a widely accepted risk factor for anti N-methyl-d-aspartate receptor (NMDAR) encephalitis. Association of inherited metabolic disease has never been reported in a patient with HSE and anti-NMDAR encephalitis. Herein, we report a case of pediatric HSE complicated by development of a...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2019.03.013
更新日期：2019-08-01 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：: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：:We report an 11-year-old girl with progressive hypopituitarism and visual loss of the right eye caused by trans-sphenoidal and sphenoethmoidal encephaloceles associated with morning glory syndrome. She was first seen at the age of 8 years, because of polydipsia and polyuria, and examination at that time revealed pitui...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/0387-7604(95)00021-3
更新日期：1995-05-01 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：:Both xeroderma pigmentosum group A (XPA) and Cockayne syndrome (CS) are rare autosomal disorders, have a genetic defect in the step of nucleotide repair, and involve various neurological abnormalities caused by progressive neurodegeneration. We performed comprehensive neuropathological analysis of five cases of XPA an...
journal_title：Brain & development
pub_type： 临床试验,杂志文章
doi：10.1016/s0387-7604(99)00033-9
更新日期：1999-07-01 00:00:00
abstract：BACKGROUND:Guillain-Barré syndrome and myasthenia gravis both lead to muscle weakness but the two combined is uncommon. Detection of these entities can help identify forms of autoimmune neuromuscular diseases that may respond to immunotherapy. This report sought to characterize the clinical features of these two entiti...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.10.016
更新日期：2013-10-01 00:00:00
abstract：:The stereotyped movement of hands, one of the core symptoms of the Rett syndrome (RS), was analyzed to study the pathophysiology. The development of hand function was delayed after mid-infancy and handedness was undetermined in most cases. Before the onset of the pathognomonic stereotypy, patients showed excessive or ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80170-7
更新日期：1990-01-01 00:00:00
abstract：:The relationship between febrile seizures and hippocampal sclerosis has been the subject of longstanding discussion. Animal models for prolonged seizures have shown a clear causal relationship with focal limbic features at low dose and hippocampal damage at high dose. Careful history taking of febrile seizure semiolog...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/j.braindev.2009.09.013
更新日期：2010-01-01 00:00:00
abstract：OBJECTIVE:We retrospectively reviewed six patients with incontinentia pigmenti (IP) who had encephalopathic manifestations during early infancy. METHODS:We enrolled six patients who met the following criteria from the mailing list of the Annual Zao Conference: (1) diagnosis of IP; (2) encephalopathic manifestations wi...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.04.002
更新日期：2011-01-01 00:00:00
abstract：:Short latency somatosensory evoked potentials (SSEPs) and 99mTc-hexamethylpropylene amine oxime single photon emission computed tomography (99mTc-HMPAO SPECT) were examined in a patient with alternating hemiplegia in infancy (AHI) before and after flunarizine treatment. The low amplitude and elongation of the latency ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(94)90032-9
更新日期：1994-07-01 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:Takuto Rehabilitation Center for Children is located in Sendai, the capital of the Miyagi prefecture, and faces the Pacific Ocean. The tsunami caused by the Great East Japan Earthquake resulted in tremendous damage to this region. Many physically handicapped patients with epilepsy who are treated at our hosp...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2016.01.005
更新日期：2016-08-01 00:00:00
abstract：:Molybdenum cofactor deficiency is a rare and devastating disease leading to intractable seizures in the neonatal period. Severe loss of neocortical neurons, gliosis, and cystic necrosis of cerebral white matter resulting in significant cerebral volume loss are the neuropathological findings. The mechanism of cerebral ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(01)00316-3
更新日期：2001-12-01 00:00:00
abstract：:Response inhibition is an attention function which develops relatively early during childhood. Behavioral data suggest that by the age of 3, children master the basic task requirements for the assessment of response inhibition but performance improves substantially until the age of 7. The neuronal mechanisms underlyin...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.11.006
更新日期：2013-11-01 00:00:00
abstract：:A 9-year-old female MELAS patient with myoclonus is reported, with emphasis on the results of electrophysiological studies of the myoclonus. At age 5 years she experienced a stroke-like episode, and a diagnosis of MELAS was made at age 6 years on the basis of muscle biopsy findings. At age 9 years spontaneous and segm...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80244-0
更新日期：1992-07-01 00:00:00
abstract：BACKGROUND:The effect of rituximab on acute disseminated encephalomyelitis (ADEM) followed by recurrent optic neuritis (ON) is not yet known. PATIENT:We are reporting the case of a 4-year-old Japanese girl who was diagnosed with anti-myelin oligodendrocyte glycoprotein (MOG) antibody positive ADEM followed by recurren...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2018.03.011
更新日期：2018-08-01 00:00:00
abstract：:Hypoxia-inducible transcription factors (HIF)-1 and HIF-2, composed of an oxygen-dependent alpha-subunit and a constitutive beta-subunit, have been characterized as the most important regulators of oxygen homeostasis during physiological and pathological conditions. During embryonic, fetal and postnatal brain developm...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/j.braindev.2009.03.007
更新日期：2009-08-01 00:00:00
abstract：:The purpose of this study was (1) to document cases of Tourette syndrome (TS) with comorbidities such as obsessive-compulsive symptoms (OCS) and hyperkinetic disorder (HD), and (2) to examine differences in clinical characteristics between TS patients with OCS and HD and those without these comorbidities. The subjects...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.01.005
更新日期：2010-03-01 00:00:00
abstract：:We report three typical cases of Landau-Kleffner syndrome with varied courses. The very frequent discharges in sleep EEGs, often showing the patterns of CSWS (continuous spike-waves during slow-wave sleep), either typical (spike-wave complex occupying over 85% of slow-wave sleep duration) or atypical (spike-waves occu...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(95)00168-9
更新日期：1996-05-01 00:00:00
abstract：:Ohtahara syndrome (OS) is characterized by frequent tonic spasms, with or without clustering, of early onset within a few months of life, and a suppression-burst (S-B) pattern in electroencephalography (EEG). Tonic spasms occur in not only waking but also sleeping state in most cases. Partial seizures are observed in ...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(01)00392-8
更新日期：2002-01-01 00:00:00
abstract：:A servo system including a microwave generator was applied to raise a rat's body temperature at a pre-set rate. Using this system the effects of age and the temperature elevation rate upon febrile seizures in rats were studied. The relationship between the brain GABA content and hyperthermia was also studied. From the...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80307-x
更新日期：1990-01-01 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：: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
