Abstract:
:Prenatal ultrasonographic evidence of intracranial mass lesions generally results in a diagnosis of primary glial or primitive neuroectodermal neoplasm. We describe two infants, one who was stillborn at 25 weeks' estimated gestational age and one term infant who was born live and died shortly after birth with large intracranial space-occupying lesions that exerted significant mass effect. At autopsy, large soft-tissue spheres of partially organized brain tissue containing neurons, astrocytes, oligodendroglia, ependyma, and choroid plexus were found adjacent to intact, fully formed cerebral hemispheres with normal brain stems and cerebelli within the cranial cavity. We have termed these extracerebral heterotopias "accessory brains." The telencephalic vesicles arise as lateral outpouchings at the rostral end of the developing embryo during the 5th week of embryogenesis. These accessory brains may arise embryologically from an accessory third evagination inferior to the telencephalic vesicles.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Harris CP,Townsend JJ,Klatt ECdoi
10.1177/088307389400900410subject
Has Abstractpub_date
1994-10-01 00:00:00pages
386-9issue
4eissn
0883-0738issn
1708-8283journal_volume
9pub_type
杂志文章abstract::Inherited leukodystrophies are a group of diseases affecting central nervous system myelin that lead to death or significant health problems. Although for most leukodystrophies there are no curative treatments, for a handful of diseases hematopoietic stem cell transplantation (HSCT; bone marrow transplant) can stop di...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073818798090
更新日期:2018-12-01 00:00:00
abstract::Rett syndrome is a neurodevelopmental disorder predominately affecting females. The majority of patients have epilepsy in the early stages of the disease. This study evaluates the clinical course of epilepsy and the effect of antiepileptic drug treatment in Rett syndrome using retrospective data analysis. Epilepsy was...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073811408422
更新日期:2011-11-01 00:00:00
abstract::Ketogenic therapy is now an accepted treatment for pediatric and adult patients with medically refractory epilepsy.1-3 However, young adults treated with a ketogenic diet face unique challenges when transitioning to adult neurology providers.4 The variable acceptance of dietary therapy, paucity of nutritionists and ad...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073820938587
更新日期:2020-11-01 00:00:00
abstract::Thromboembolic events during the perinatal period are responsible for irreversible brain damage owing to cerebral hypoxia and neuronal necrosis. We investigated the presence of thrombophilia risk factors in children with congenital neurologic disorders. Nineteen children (9 males and 10 females), aged 1 to 14 years (m...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738050200060701
更新日期:2005-06-01 00:00:00
abstract::Neonatal seizures are one of the most common neurological disorders in infants. However, the optimal treatment strategy for neonatal seizures remains controversial and there is little data regarding current treatment of neonatal seizures. In this study we describe the current treatment of neonatal seizures and variati...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073808321056
更新日期:2009-02-01 00:00:00
abstract::High-dose phenobarbital therapy is an effective treatment for refractory status epilepticus in children. The advantages of this therapy include milder adverse effects without limits for maximal phenobarbital levels or doses during the initial phase of treatment. However, little is known about the safety of continuing ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073808331360
更新日期:2009-12-01 00:00:00
abstract::Tuberous sclerosis complex is a multisystem, chronic genetic condition characterized by systemic growth of benign tumors and often accompanied by epilepsy, autism spectrum disorders, and intellectual disability. Nonetheless, the neurodevelopmental phenotype of these patients is not often detailed. The authors describe...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073815600871
更新日期:2015-12-01 00:00:00
abstract::Fumarase deficiency is a very rare inborn error of metabolism caused by decreased activity of fumarate hydratase enzyme. We describe a fumarase-deficient infant who presented with encephalopathy, metabolic crisis, psychomotor retardation, hypotonia, seizures, and facial dysmorphism. To our knowledge, this is the first...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073812447286
更新日期:2013-04-01 00:00:00
abstract::The association between tuberous sclerosis complex and intracranial abnormalities such as hemimegalencephaly, schizencephaly, intracranial arterial aneurysms, and corpus callosum agenesis/dysplasia has been reported in the recent literature. However, the association between tuberous sclerosis complex and bilateral tem...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807304014
更新日期:2007-06-01 00:00:00
abstract::Donnai-Barrow syndrome is a rare autosomal recessive disorder first described in 1993. This report presents ocular manifestations of this rare autosomal recessive disorder through 2 additional cases. Ocular features include hypertelorism, down-slanting palpebral fissures, iris coloboma, high myopia, and retinal detach...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807301933
更新日期:2007-04-01 00:00:00
abstract::The efficacy of modafinil in comparison with methylphenidate in treatment of pediatric attention-deficit hyperactivity disorder (ADHD) has not been thoroughly investigated. This study compared the effect of modafinil versus methylphenidate on continuous attention task in children with ADHD, using the Test of Variables...
journal_title:Journal of child neurology
pub_type: 杂志文章,随机对照试验
doi:10.1177/0883073812439101
更新日期:2012-12-01 00:00:00
abstract::To describe the spectrum and associated clinical features of peripheral and cerebral vasculopathy in pediatric patients with neurofibromatosis type 1, children seen at a single center from 2000 to 2010 with appropriate imaging studies were identified. Scans were assessed for vascular disease by 2 pediatric neuroradiol...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073812448531
更新日期:2013-05-01 00:00:00
abstract::The electrophysiologic findings in an infant with congenital facial diplegia (Möbius syndrome) are presented. As to serial electrically elicited blink reflexes, the R1 amplitude was significantly reduced and the R2 latency was significantly prolonged. The M response of the orbicularis oculi muscle showed slightly redu...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389300800213
更新日期:1993-04-01 00:00:00
abstract::The authors report on a 45-day-old boy with a congenital intramedullary tumor with clinical manifestations since birth. Neurologic examination disclosed severe bilateral lower-limb hypotonia and diplegia, with exacerbated deep tendon reflexes and clonus associated with severe pain at manipulation. Further evaluation o...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389901400711
更新日期:1999-07-01 00:00:00
abstract:BACKGROUND:Spinal muscular atrophy is an autosomal-recessive, progressive neuromuscular disease associated with extensive morbidity. Children with spinal muscular atrophy have potentially increased life spans due to improved nutrition, respiratory support, and novel pharmaceuticals. OBJECTIVES:To report on the quality...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073819900463
更新日期:2020-04-01 00:00:00
abstract::This article describes a case of pyruvate dehydrogenase deficiency in a 3-year-old boy who presented generalized hypotonia, severe psychomotor development delay, and generalized and partial seizures and was refractory to antiepileptic drugs. After the diagnosis, the patient was put on a ketogenic diet. Six months late...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073812436424
更新日期:2012-12-01 00:00:00
abstract::Solitary tumefactive demyelination is rare in children, and the diagnosis is often conferred after brain biopsy. The authors report 3 children with solitary tumefactive demyelination and provide clinical and paraclinical clues to aid the clinician in reaching a diagnosis using a noninvasive approach. ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073811401402
更新日期:2011-08-01 00:00:00
abstract::Familial hemophagocytic lymphohistiocytosis is an inherited deficiency of natural killer cell function and excessive cytokine activity, which predominantly presents in early childhood. The initial symptoms of familial hemophagocytic lymphohistiocytosis are often nonspecific but may be predominantly neurologic. The cas...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807304203
更新日期:2007-07-01 00:00:00
abstract::The most devastating complications of tuberous sclerosis complex affect the central nervous system and include epilepsy, mental retardation, autism, and glial tumors. Mutations in one of two genes, TSC1 and TSC2, result in a similar disease phenotype by disrupting the normal interaction of their protein products, hama...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/08830738040190091401
更新日期:2004-09-01 00:00:00
abstract::We sent questionnaires concerning the current therapy for West syndrome to 208 institutions at which pediatric care members of the Japan Epilepsy Society were working. Of these, 129 (62%) institutions responded. Vitamin B6 was the preferred first-line drug, followed by the combination of vitamin B6 and valproate or mo...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380001500615
更新日期:2000-06-01 00:00:00
abstract::We describe a fatal case of mumps virus-associated acute encephalopathy. In terms of the clinical course and cytokine as well as chemokine profiles, the pathogenesis in our case was different from that of mumps meningoencephalitis but was similar to that of influenza virus-associated acute encephalopathy. ...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073812441060
更新日期:2013-02-01 00:00:00
abstract::Genetic factors play an important role in childhood autism. This study is to determine the association of single-nucleotide polymorphisms in dopa decarboxylase (DDC) and dopamine receptor-1 (DRD1) genes with childhood autism, in a Chinese Han population. A total of 211 autistic children and 250 age- and gender-matched...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073815601496
更新日期:2016-04-01 00:00:00
abstract::This review summarizes what is known about the neurobiology of specific language impairment. Despite its name, specific language impairment is frequently not specific. It is common to find associated impairments in motor skills, cognitive function, attention, and reading in children who meet criteria for specific lang...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/08830738040190070101
更新日期:2004-07-01 00:00:00
abstract::There has been increasing awareness that there are behavioral phenotypes in tuberous sclerosis complex with neuropsychiatric symptom complex such as autistic disorder and attention-deficit hyperactivity disorder (ADHD). However, the neurobiologic basis of autistic disorder in tuberous sclerosis complex is still unknow...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.2310/7010.2006.00046
更新日期:2006-03-01 00:00:00
abstract::Spinal muscular atrophy type 0 is a severe form of spinal muscular atrophy that is usually fatal in the first months of life. These children present with arthrogryposis multiplex congenita and respiratory compromise. We describe a child with spinal muscular atrophy and arthrogryposis multiplex congenita who has had a ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380101601213
更新日期:2001-12-01 00:00:00
abstract::The goal of the research was to point out the importance of early prespeech therapy for babies suffering from at-birth-acquired unilateral or bilateral lesion in the prespeech period of development. On the basis of existing studies and experience in the field, a protocol and methodology for the observation of the phon...
journal_title:Journal of child neurology
pub_type: 临床试验,杂志文章
doi:10.1177/0883073807299970
更新日期:2007-01-01 00:00:00
abstract::This study presents a large multicenter cohort of children with cerebral venous thrombosis from 5 centers in the United States and analyzes their clinical findings and risk factors. Seventy patients were included in the study (25 neonates, 35%). The age ranged from 6 days to 12 years. Thirty-eight (55%) were younger t...
journal_title:Journal of child neurology
pub_type: 杂志文章,多中心研究
doi:10.1177/0883073807307976
更新日期:2008-01-01 00:00:00
abstract::Children with autistic spectrum disorder are known to have histopathological abnormalities in the cerebellum. Diffusion tensor imaging has been utilized to study abnormalities in connectivity and microintegrity in brains of such children. A region of interest approach was adopted to study cerebellar outflow and inflow...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073809358765
更新日期:2010-10-01 00:00:00
abstract::Pediatric brain tumors are the leading cause of cancer-related death during childhood. Since the first pediatric brain tumor clinical trials, the field has seen improved outcomes in some, but not all tumor types. In the past few decades, a number of promising new therapeutic agents have emerged, yet only a few of thes...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073815604221
更新日期:2016-10-01 00:00:00
abstract::We previously reported that patients with spinal muscular atrophy do not lose muscle strength over time as measured quantitatively. However, we noted that many patients with spinal muscular atrophy suffer from what they call fatigue. We wondered if we could measure fatigue during a single maximal voluntary contraction...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389701200507
更新日期:1997-08-01 00:00:00