Abstract:
:Two half-siblings with schizencephaly are presented. They have the same mother who had a normal cerebral imaging study. Only one other kindred was found in which 2 siblings had this cerebral lesion. In the present patients, autosomal inheritance from the mother is possible, but other explanations should include familial, as well as genetic, factors. Family counseling should stress the sporadic nature of this entity but a recurrence in the same sibship is possible. Details of the clinical and magnetic resonance imaging studies are presented.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Hosley MA,Abroms IF,Ragland RLdoi
10.1016/0887-8994(92)90039-2subject
Has Abstractpub_date
1992-03-01 00:00:00pages
148-50issue
2eissn
0887-8994issn
1873-5150pii
0887-8994(92)90039-2journal_volume
8pub_type
杂志文章abstract::Colloid cysts of the third ventricle are benign intracranial tumors that usually become symptomatic in adults, rather than in children. Rare hemorrhages in these cysts can cause acute obstructive hydrocephalus and sudden death. We report a novel pediatric case of hemorrhagic colloid cyst in a 9-year-old girl who prese...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2008.02.004
更新日期:2008-06-01 00:00:00
abstract::Hashimoto's encephalopathy is an underdiagnosed, steroid-responsive, progressive or relapsing encephalopathy associated with high titers of serum antithyroid antibodies. Although Hashimoto's encephalopathy is well documented in adults, it is rarely observed or studied in children and adolescents. We describe the clini...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2011.09.010
更新日期:2011-12-01 00:00:00
abstract::The somatosensory evoked potentials from the lower extremities were measured postoperatively in 15 patients with biliary atresia to investigate whether they were free of neurologic dysfunction. Because long-standing cholestasis causes progressive neuropathy due to malabsorption of vitamin E, the serum vitamin E, D, an...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(97)00011-8
更新日期:1997-04-01 00:00:00
abstract::A patient with angiodysgenetic necrotizing encephalopathy or diffuse meningocerebral angiomatosis complicated by intraventricular hemorrhage, posthemorrhagic hydrocephalus, and signs of heart failure is reported. The hydrocephalus and cardiomegaly were diagnosed by fetal ultrasonography. Based on these pathologic find...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(96)00004-5
更新日期:1996-02-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Febrile convulsions and allergic rhinitis are both common childhood disorders and both are considered as generally benign disorders. Yet, especially in the case of allergic rhinitis, adverse effects on school performance and limited socialization are found. The relationship between febrile con...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2013.12.011
更新日期:2014-04-01 00:00:00
abstract::We report a boy 20 months of age with encephalopathy, petechiae, and ethylmalonic aciduria (EPEMA). Other clinical features were severe hypotonia, orthostatic acrocyanosis, and chronic diarrhea. Magnetic resonance imaging (MRI) of the brain demonstrated bilateral lesions in the lenticular and caudate nuclei, periaqued...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(97)00048-9
更新日期:1997-09-01 00:00:00
abstract:BACKGROUND:Proton magnetic resonance spectroscopy can be used to assess brain integrity and maturation with age. OBJECTIVE:To compare regional cerebral magnetic resonance spectroscopy metabolite ratios in extremely low birth weight and healthy term control infants measured at term-equivalent age and to evaluate associ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2014.03.011
更新日期:2014-07-01 00:00:00
abstract::To determine the factors affecting the neurodevelopmental outcome in children with posthemorrhagic hydrocephalus, 78 children with intraventricular hemorrhage grade 3 or 4 were analyzed concerning the outcome in relation to the grade of intraventricular hemorrhage and intervention (surgical, medical, or no interventio...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2005.01.008
更新日期:2005-07-01 00:00:00
abstract:BACKGROUND:We identified a group of patients with ATP1A3 mutations at residue 756 who display a new phenotype, distinct from alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism, and cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndromes. METHODS:Four patients wi...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2017.04.022
更新日期:2017-08-01 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::Subacute sclerosing panencephalitis is a rare neurologic disorder of childhood and adolescence. We describe a 16-year-old boy who manifested the disease despite proper vaccinations. He was hospitalized because of bedwetting, involuntary limb movements, abnormal speech, and balance disturbances. Immunoglobulin G antibo...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2011.01.011
更新日期:2011-06-01 00:00:00
abstract:BACKGROUND:Rett syndrome is characterized by psychomotor regression during early childhood, autistic-like behaviors, and aberrant breathing patterns. Dysfunction of the serotonergic system has been postulated to play a role in the pathophysiology of these symptoms. PATIENT DESCRIPTION:We present an 11-year-old girl wi...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2016.03.016
更新日期:2016-07-01 00:00:00
abstract::This report describes the case of an 11-year-old girl with a prior history of epilepsy and multiple episodes of status epilepticus who presented with generalized convulsive status epilepticus and left hemiclonic seizures. Magnetic resonance imaging, including diffusion-weighted sequences and spectroscopy, and neuropat...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.pediatrneurol.2006.12.005
更新日期:2007-04-01 00:00:00
abstract::We report on a unique patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) presenting optic atrophy, cardiomyopathy, and bilateral striatal necrosis before stoke-like episodes became apparent. Skeletal muscle total mitochondrial DNA analysis identified a heteroplasmic ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(02)00456-3
更新日期:2002-11-01 00:00:00
abstract:BACKGROUND:Sturge-Weber syndrome is a neurocutaneous disorder associated with epilepsy, glaucoma, cognitive impairments, and a port-wine birthmark. Although individuals with Sturge-Weber syndrome are vulnerable to known risk factors for suicide, including chronic illness and physical differences (port-wine birthmark), ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2020.03.013
更新日期:2020-09-01 00:00:00
abstract:BACKGROUND:Neurogenic pulmonary edema may be a complication of multiple neurological processes. Although there is debate regarding the underlying pathophysiology, the recognition of neurogenic pulmonary edema is vitally important because of the high-potential for mortality and need for treatment of the underlying disor...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2014.04.023
更新日期:2014-09-01 00:00:00
abstract:BACKGROUND:Sulfatides, the most abundant glycosphingolipids, are a major component of myelin. They are degraded by the combined action of sphingolipid activator protein and arylsulfatase A. Deficiency of either of these entities causes metachromatic leukodystrophy (MLD). On the basis of age of onset, this entity is div...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2014.01.028
更新日期:2014-06-01 00:00:00
abstract::The aim of this study was to investigate the effect of family structure and the attitude of mothers on the development of breath-holding spells. The data of the Sociodemographic and Parental Attitude Research Instruments of 30 mothers of children with breath-holding spells and of 30 mothers of healthy children were co...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2005.12.006
更新日期:2006-07-01 00:00:00
abstract::The etiology of Behr syndrome remains uncertain. A 6-year-old girl with a progressive syndrome of optic atrophy, ataxia, myoclonic epilepsy, urinary incontinence, and pyramidal tract degeneration suggestive of Behr syndrome is described. Diffuse, symmetric white matter abnormalities were demonstrated by magnetic reson...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(94)90033-7
更新日期:1994-05-01 00:00:00
abstract::Acute disseminated encephalomyelitis is an inflammatory disorder of the central nervous system. Uniform diagnostic criteria for acute disseminated encephalomyelitis did not exist until publication of expert-defined consensus definitions by the International Pediatric Multiple Sclerosis Society Group in 2007, with upda...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.pediatrneurol.2019.06.017
更新日期:2019-11-01 00:00:00
abstract::Relapsing neuromyelitis optica is rare in children. The identification of a highly specific serum autoantibody marker (neuromyelitis optica-immunoglobulin G) differentiates neuromyelitis optica from other demyelinating disorders, particularly in clinically challenging cases. We present a child with multiple episodes o...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2008.05.016
更新日期:2008-09-01 00:00:00
abstract::This report describes a case of West Nile virus meningoencephalitis in a previously healthy adolescent. Clinical features included fever, altered mental status, and speech difficulty, with subsequent hyperesthesia, ataxia, and motor weakness, all of which eventually resolved completely. Magnetic resonance imaging was ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2005.03.007
更新日期:2005-09-01 00:00:00
abstract::CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, and is characterized by language delay, seizures, rapid cognitive and motor decline, blindne...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.pediatrneurol.2017.01.034
更新日期:2017-04-01 00:00:00
abstract::The Publisher regrets that this article is an accidental duplication of an article that has already been published, http://dx.doi.org/10.1016/j.pediatrneurol.2014.07.002. The duplicate article has therefore been removed. The full Elsevier Policy on Article Removal can be found at http://www.elsevier.com/locate/withdra...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2014.08.001
更新日期:2014-08-07 00:00:00
abstract::Visual symptomatology in childhood often presents diagnostic difficulties. Recurrent paroxysmal visual complaints, although typically associated with migraine, may also signal other disorders. We describe a 9-year-old partially sighted male with paroxysmal zoopsias resulting from Charles Bonnet syndrome. This conditio...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(01)00358-7
更新日期:2002-02-01 00:00:00
abstract::Gangliogliomas are rare neurogliogenic tumors of the central nervous system. Primary involvement of the brainstem is characterized by variable presentations and a long clinical course before diagnosis. Identification of this group of tumors is essential because clinical improvement and prolonged survival have been doc...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/0887-8994(86)90014-7
更新日期:1986-05-01 00:00:00
abstract:BACKGROUND:Ring chromosome 20 is a genetic disorder characterized by intractable epilepsy, behavioral problems, and cognitive deficit. The potassium channel-coding gene KCNQ2 is localized at the locus q13.3 on the chromosome 20, the most common site where the ring occurs. Ezogabine is the first potassium channel opener...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2013.06.005
更新日期:2013-11-01 00:00:00
abstract:OBJECTIVE:To investigate clinical risk factors for acute magnetic resonance imaging (MRI) abnormalities in patients with benign convulsions with mild gastroenteritis or benign infantile epilepsy. STUDY DESIGN:We investigated clinical and diffusion-weighted imaging findings in 32 patients with benign convulsions with m...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2019.05.002
更新日期:2020-08-01 00:00:00
abstract::We report a patient with BH(4)-sensitive phenylketonuria. In neonatal screening, phenylalanine levels above 10 mg/dl were detected. In the tetrahydrobiopterin- (BH(4)) loading test, phenylalanine concentrations in serum fell significantly. Dihydropteridine reductase activity in blood, pterines, and neurotransmitters i...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/s0887-8994(02)00516-7
更新日期:2003-03-01 00:00:00
abstract::Parry-Romberg is a rare syndrome of unknown origin, characterized by hemiatrophy of the face including subcutaneous tissue, skeletal muscle, and bones, along with various ocular and central nervous system abnormalities. Some investigators consider that injury to the sympathetic fibers of the trigeminal nerve is a caus...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2008.11.007
更新日期:2009-04-01 00:00:00