Abstract：
:Forty-seven patients (39 boys and 8 girls) with infantile autism whose clinical symptoms had matched the diagnostic criteria of DSM III were studied cytogenetically for the occurrence of fragile X [fra(X)] syndrome. The existence of fra(X) chromosome in these patients was screened first by culturing peripheral blood lymphocytes in a medium in which folic acid was absent; the fra(X) chromosome then was confirmed by reculturing in another medium to which 5-fluoro-2'-deoxyuridine was added for the last 24 hours of culture. Fra(X) chromosome was found in 2 of 39 male patients, but in none of the female patients; the 2 patients are siblings. Thus, fra(X) syndrome occurs in 2.6% (1/38) in this study population of male autistic children. The frequencies of fra(X) expression in the older brother with mild mental retardation, in the more severely retarded younger brother, and in their mother were 3-5%, 17-20%, and 9-3%, respectively. Of the two methods used in the present study, the method employing 5-fluoro-2'-deoxyuridine tended to be more sensitive to fra(X) chromosome detection, especially for a suspected carrier.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Matsuishi T,Shiotsuki Y,Niikawa N,Katafuchi Y,Otaki E,Ando H,Yamashita Y,Horikawa M,Urabe F,Kuriya Ndoi
10.1016/0887-8994(87)90069-5subject
Has Abstract,Author List Incompletepub_date
1987-09-01 00:00:00pages
284-7issue
5eissn
0887-8994issn
1873-5150pii
0887-8994(87)90069-5journal_volume
3pub_type
杂志文章,评审abstract：:We describe a fetal intracerebral hemorrhage associated with familial thrombophilia. Intraventricular and intraparenchymal hemorrhage of the left cerebral hemisphere was diagnosed at 22 weeks of gestation. Neuropathologic examination demonstrated a large germinal zone hemorrhage and ischemic changes secondary to bleed...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2009.04.027
更新日期：2009-10-01 00:00:00
abstract：:Hematogenous brain metastases are uncommon in childhood. Three patients and a literature review that includes centers reporting up to 36 years of experience are presented in this study. The total of 2,040 patients includes our three examples of one neuroblastoma, one hepatoblastoma, and one adrenal carcinoma. Cerebral...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/s0887-8994(01)00363-0
更新日期：2002-03-01 00:00:00
abstract：:The Fontan operation is one of the most common cardiac operations for children with congenital heart disease beyond the first year of age. Although the surgical mortality of this procedure has improved over the past 2 decades, the neurologic outcome in this population is not well described. We performed a retrospectiv...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(95)00027-d
更新日期：1995-04-01 00:00:00
abstract：BACKGROUND:Herpes simplex virus encephalitis can manifest as a range of clinical presentations including classic adult, neonatal, and biphasic chronic-granulomatous herpes encephalitis. METHOD:We report an infant with granulomatous herpes simplex virus type 2 encephalitis with a subacute course and multicystic encepha...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2013.12.008
更新日期：2014-04-01 00:00:00
abstract：:Chronic oral VP-16 (etoposide) is a chemotherapy regimen with a wide application in oncology and documented efficacy against germ cell tumors, lymphomas, Kaposi's sarcoma, and primary brain tumors. This study was performed to assess the toxicity and activity of chronic oral etoposide in the management of children with...
journal_title：Pediatric neurology
pub_type： 临床试验,杂志文章
doi：10.1016/s0887-8994(00)00249-6
更新日期：2001-02-01 00:00:00
abstract：:A previously healthy 7-month-old child was treated with homeopathic preparations of thuja, a potentially convulsant compound, for the purpose of providing a calming effect around times of immunizations. The child developed eight generalized tonic-clonic seizures with no other obvious cause, in the context of normal el...
journal_title：Pediatric neurology
pub_type： 临床试验,杂志文章
doi：10.1016/j.pediatrneurol.2007.07.008
更新日期：2007-12-01 00:00:00
abstract：:Central neurogenic hyperventilation refers to progressive tachypnea leading to hypocarbia and respiratory alkalosis caused by cortical disorders, initially reported in comatose patients with mainly pontine infarction. Central neurogenic hyperventilation in conscious patients is even rarer, numbering around 30 reported...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2003.10.003
更新日期：2004-04-01 00:00:00
abstract：:The use of low-molecular-weight heparin offers multiple advantages over unfractionated heparins in pediatric patients with acute ischemic stroke. The safety and efficacy of low-molecular-weight heparin have been demonstrated in adults, but less is known about their use in children. This study reviews retrospectively t...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(03)00270-4
更新日期：2003-10-01 00:00:00
abstract：:The object of this study was to investigate the potential association of infections, especially group A hemolytic streptococcal infection, with the abrupt onset/exacerbation of tics or obsessive-compulsive behaviors. A structured clinical interview was used to evaluate 80 consecutive children, 5-17 years of age, with ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(00)00131-4
更新日期：2000-05-01 00:00:00
abstract：:Primary malignant melanoma of the meninges is described in a 5-year-old boy who presented with a 3-month history suggestive of subacute meningitis. Clinically the diagnosis of tuberculous meningitis was made and antituberculous treatment was begun. Despite this treatment, the patient's condition continued to deteriora...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(94)00155-u
更新日期：1995-02-01 00:00:00
abstract：:Carpal tunnel syndrome, although rare, is known to occur in children mainly because of genetic or metabolic disorders. The clinical findings are variable and include symptoms of burning pain, tingling, numbness, and weakness or atrophy in the hands of the patients. It is usually diagnosed by demonstration of prolonged...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(03)00280-7
更新日期：2003-10-01 00:00:00
abstract：:Niemann-Pick type C disease is an autosomal-recessive, inherited neurovisceral lipid storage disorder. This disease results from either protein NPC1 or HE1 deficiency, which leads to cholesterol metabolism disturbance and is characterized by early hepatosplenomegaly and progressive ataxia, dystonia, cataplexy, dysarth...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(03)00219-4
更新日期：2003-09-01 00:00:00
abstract：:Earlier reports on T2-weighted magnetic resonance imaging (MRI) in the classical form of Pelizaeus-Merzbacher disease seemed to divide the patterns of the high-intensity lesions in the white matter into three subtypes: type I, diffusely hemispheric and corticospinal; type II, diffusely hemispheric without brainstem le...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(97)00212-9
更新日期：1998-04-01 00:00:00
abstract：:Leigh syndrome is an inherited, progressive neurodegenerative disorder of infancy and childhood. Mutations in the nuclear SURF-1 gene are specifically associated with cytochrome C oxidase-deficient Leigh syndrome. This report describes two patients with similar facial features. One of them was a 2(1/2)-year-old male, ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2005.10.020
更新日期：2006-06-01 00:00:00
abstract：:Methylphenidate (MPH) effects on global and complex measures of electroencephalography were examined in boys with attention-deficit-hyperactivity disorder between the ages of 9 and 11 years. Electroencephalogram (EEG) data were collected separately from the administration of a continuous performance task and were eval...
journal_title：Pediatric neurology
pub_type： 临床试验,杂志文章
doi：10.1016/s0887-8994(99)00052-1
更新日期：1999-09-01 00:00:00
abstract：:Rett syndrome is a neurodevelopmental disorder that almost exclusively affects females. The clinical course as well as the electroencephalogram pattern are characteristic and have been correlated to the clinical stages of the disease. Sixty to 70 percent of the patients develop epilepsy. The aim of this retrospective ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2006.10.003
更新日期：2007-02-01 00:00:00
abstract：:According to increasing evidence, hypothermia can significantly improve outcomes in term neonates manifesting asphyxic insult and hypoxic-ischemic encephalopathy. Oxidative stress plays a key role in hypoxic-ischemic and inflammatory brain injuries. We investigated the impact of hypothermia on oxidative stress in babi...
journal_title：Pediatric neurology
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.pediatrneurol.2010.05.009
更新日期：2010-10-01 00:00:00
abstract：:A boy presented with hypertension, seizures, lethargy, headache, and occipital blindness. He improved with antihypertensive therapy. Other reported children with a similar distinctive clinical condition are compared with adults with a syndrome termed reversible posterior leukoencephalopathy. Because both gray and whit...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/s0887-8994(96)00292-5
更新日期：1997-02-01 00:00:00
abstract：BACKGROUND:Mutations in ryanodine receptor 1 gene (RYR1) are frequent causes of myopathies. They classically present with central core disease; however, clinical variability and histopathologic overlap are being increasingly recognized. PATIENTS:Patient 1 is a 15-year-old girl with mild proximal, four-limb weakness fr...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2014.04.024
更新日期：2014-08-01 00:00:00
abstract：:This article describes an 8-month-old boy with the full clinical spectrum anti-N-methyl-d-aspartate receptor encephalitis. He was admitted to the hospital with involuntary orofacial head movements, behavioral changes, and fluctuation in consciousness. His examination showed tongue thrusting, decreased responsiveness, ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2012.12.032
更新日期：2013-05-01 00:00:00
abstract：:A 6-year-old girl (Patient 1) and a 5-year-old boy (Patient 2) with acute disseminated encephalomyelitis after Japanese B encephalitis vaccination are reported. Drowsiness, paresthesias, and gait disturbance were observed at 14 days (Patient 1) and 17 days (Patient 2) after the vaccination; however, transient impairme...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(92)90036-x
更新日期：1992-03-01 00:00:00
abstract：:We report a female who was diagnosed with Wegener's granulomatosis at 4 years of age with life-threatening intracranial bleeding. The patient's serum was positive for c-antineutrophilic cytoplasmic antibodies, and histologic analysis of the lung biopsy revealed evidence of granulomatous vasculitis. Initial treatment w...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(02)00392-2
更新日期：2002-07-01 00:00:00
abstract：:Central nervous system manifestations are a common extrapulmonary complication of Mycoplasma pneumoniae infection, of which encephalitis is a well-recognized abnormality in children. In this report the first description of M. pneumoniae infection simultaneously complicated by meningoencephalitis and hemophagocytosis i...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(01)00274-0
更新日期：2001-07-01 00:00:00
abstract：:The distribution of leukomalacia and glial fibrillary acidic protein (GFAP)-positive glial cells in prenatal- and postnatal-onset leukomalacia were compared and diagnosed histologically in 128 autopsied infants and the different pathogeneses were examined. Prenatal-onset leukomalacia was diagnosed in 12 of 71 still-bi...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(93)90009-2
更新日期：1993-01-01 00:00:00
abstract：:Nerve growth factor (NGF) in cerebrospinal fluid was measured by ELISA in ten children with postinfectious diseases and in five children with diseases suggested to be of autoimmune etiology. Three groups of patients were studied: (1) those with moderately elevated concentrations (50.67 +/- 17.02 pg/mL, mean and SEM), ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(97)00204-x
更新日期：1998-03-01 00:00:00
abstract：:We describe a girl with Alagille syndrome and a moyamoya angiographic pattern on magnetic resonance angiography. She was referred for genetic consultation because of posterior embryotoxon and peripheral pulmonary stenosis. Her facial appearance was typical, but she had no cholestasis or vertebral involvement. A hetero...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2012.04.014
更新日期：2012-08-01 00:00:00
abstract：:A 13-year, 6-month-old female was evaluated for subacute onset of left-sided hemichorea/hemiballismus, with an old, right parietal, cortical, and subcortical stroke as the presumed cause. Treatment with gabapentin was initiated, with good results at 6-month follow-up. Discussion of the differential diagnosis and evalu...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(99)00104-6
更新日期：2000-01-01 00:00:00
abstract：:A debilitating, regularly recurring, biphasic disorder is described in 6 severely multidisabled children. It was characterized by several days of lethargy, withdrawal, loss of abilities, irritability, and hypersomnolence followed or preceded by a high-energy state for several days during which the children slept very ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(94)90064-7
更新日期：1994-02-01 00:00:00
abstract：:A 6-year-old, previously healthy male presented with fever and lethargy. Tuberculous meningitis was suspected after cerebrospinal fluid examination. Antituberculous drugs were administered, and an initial computed tomographic scan of brain revealed mild ventriculomegaly only. Steroids were instituted on day 16 and gra...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.pediatrneurol.2004.05.008
更新日期：2004-11-01 00:00:00
abstract：:Sporadic nonsyndromic cerebellar hypoplasia is a radiological diagnosis with clinical features and a relation with developmental disability that are presently not known. Through a retrospective review of a comprehensive standardized computerized database containing more than 2,500 patients examined consecutively by a ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(96)00220-2
更新日期：1996-10-01 00:00:00
