Abstract:
:We describe two children from a consanguineous family who manifested mega-corpus callosum, polymicrogyria, and psychomotor retardation. These patients also exhibited the brain anomalies of pontine hypoplasia and an abnormal cerebellar vermis. Our report confirms the genetic nature of megalencephaly-polymicrogyria-mega-corpus callosum syndrome, suggests a possible autosomal-recessive inheritance, and expands the spectrum of this rare entity.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Bindu PS,Taly AB,Sinha S,Bharath RDdoi
10.1016/j.pediatrneurol.2009.09.012subject
Has Abstractpub_date
2010-02-01 00:00:00pages
129-32issue
2eissn
0887-8994issn
1873-5150pii
S0887-8994(09)00487-1journal_volume
42pub_type
杂志文章abstract::An 18-year-old man in remission from acute myelogenous leukemia 3 years after a bone marrow transplant presented with signs of pseudotumor cerebri, including headache, visual changes, and papilledema. He manifested elevated opening pressure on lumbar puncture and positive cytology, with a concurrent normal bone marrow...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2008.07.025
更新日期:2008-11-01 00:00:00
abstract:BACKGROUND:It is well known that febrile seizures are commonly occur in children with exanthem subitum. In this study, we compared the clinical features and backgrounds of patients with complex febrile seizures with and without primary human herpesvirus 6B infection. METHODS:Sixty-two patients were enrolled after expe...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2020.03.015
更新日期:2020-08-01 00:00:00
abstract::Acute transverse myelitis is a rare Borellia burgdorferi-related neurologic complication in childhood. We present a 12-year-old girl who was diagnosed with acute transverse myelitis associated with a borreliosis infection. We also review clinical features in all five cases of Borellia burgdorferi-related transverse my...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.pediatrneurol.2012.12.001
更新日期:2013-04-01 00:00:00
abstract:PURPOSE:To provide consensus-based, suggested imaging protocols to facilitate the accurate and timely diagnosis of a neonate with symptoms concerning for stroke. METHODS:The Writing Group, an international collaboration of pediatric neurologists and neuroradiologists with expertise in perinatal and childhood stroke, p...
journal_title:Pediatric neurology
pub_type: 共识发展会议,杂志文章,评审
doi:10.1016/j.pediatrneurol.2016.12.008
更新日期:2017-04-01 00:00:00
abstract:BACKGROUND:Blepharophimosis-ptosis-epicanthus inversus syndrome is an autosomal dominant condition because of mutations or deletions of the FOXL2 gene. Microcephaly is not associated with FOXL2 mutations but has been reported in individuals with chromosome 3q deletions, which include the FOXL2 gene and other contiguous...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2014.01.055
更新日期:2014-06-01 00:00:00
abstract::Stimulant therapy is usually contraindicated in patients with movement disorders such as tics or chorea. A young boy is reported who had benign hereditary chorea and attention deficit disorder, whose chorea, handwriting, and independent ambulation paradoxically improved with methylphenidate treatment. ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(96)00056-2
更新日期:1996-05-01 00:00:00
abstract::The frequency and severity of neurologic symptoms in children with systemic cancer is unknown. The authors reviewed the records of children with systemic cancer for whom a neurologic consultation was requested between 1993 and 1996. The 157 patients had 161 malignancies and 205 consultations. Leukemia (59) and lymphom...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(98)00114-3
更新日期:1999-02-01 00:00:00
abstract:BACKGROUND:A cause cannot be determined in 30% to 50% of patients with intellectual disability. Determining the etiology of intellectual disability is important and useful for pediatric neurologists, geneticists, pediatricians, and patients' families because it allows assessment of recurrence risk, appropriate genetic ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2013.10.017
更新日期:2014-03-01 00:00:00
abstract::l-2 hydroxyglutaric aciduria is a rare, autosomal recessively inherited metabolic disorder of organic acid metabolism. A 5-year-old boy presented with eyelid myoclonia with absences that proved difficult to control with first-line anticonvulsants. An electroencephalogram produced profoundly abnormal results, with gene...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2012.01.008
更新日期:2012-03-01 00:00:00
abstract:BACKGROUND:Prevalence and contribution of intracranial and extracranial arterial stenosis to stroke risk were assessed prospectively in children and young adults with sickle cell disease. METHODS:In this cross-sectional study, children and young adults (mean = 19.4 years) with sickle cell disease underwent neurologica...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2020.10.006
更新日期:2021-01-01 00:00:00
abstract:OBJECTIVE:We describe the trends in antiepileptic drug (AED) use in children and adolescents with epilepsy in the United States. METHODS:We undertook a cross-sectional study based on Medicaid Analytic eXtract data set from 26 US states. Children and adolescents aged three to 18 years with at least one year continuous ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2017.05.016
更新日期:2017-09-01 00:00:00
abstract::Moyamoya is a chronic, progressive steno-occlusive arteriopathy that typically affects the anterior circulation arteries of the circle of Willis. A network of deep thalamoperforating and lenticulostriate collaterals develop to by-pass the occlusion giving rise to the characteristic angiographic "puff of smoke" appeara...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.pediatrneurol.2018.10.006
更新日期:2019-02-01 00:00:00
abstract::Two patients with hemophilia and spinal epidural hematoma, who were treated successfully with serial Factor VIII infusions, are reported. This form of conservative therapy may circumvent the need for decompressive laminectomy and its attendant complications in instances in which the neurologic deficit is mild or stabl...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(88)90006-9
更新日期:1988-05-01 00:00:00
abstract::A 16-year-old boy had a gradual onset of post-exercise myalgia with progressive fatigue and dizziness. He had bradycardia (37 beats/minute) with low supine and normal standing norepinephrine levels (56 and 311 pg/mL, respectively). He had absent sympathetically mediated vasoconstrictor responses during Valsalva maneuv...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2010.05.003
更新日期:2010-10-01 00:00:00
abstract::An optimal botulinum toxin dose may be related to the volume of the targeted muscle. We investigated the suitability of using ultrasound and anthropometry to estimate gastrocnemius and soleus muscle volume. Gastrocnemius and soleus muscle thickness was measured in 11 cadaveric human legs, using ultrasound. Lower leg l...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2007.05.019
更新日期:2007-10-01 00:00:00
abstract::Four patients who manifested symptoms of the antiepileptic drug (AED) hypersensitivity syndrome during therapy with carbamazepine are reported. In 3 patients, the syndrome was exacerbated after conversion of therapy to another antiepileptic drug with an aromatic ring chemical structure. In vitro lymphocyte transformat...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(94)90054-x
更新日期:1994-03-01 00:00:00
abstract:INTRODUCTION:Spinal teratomas are extremely rare; they constitute <0.5% of all spinal cord tumors. These rare tumors have nonspecific manifestations but in most cases are accompanied by neurological deficits. Rupture of a mature teratoma can cause chemical meningitis. PATIENT DESCRIPTION:A 7-year-old boy presented wit...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2014.02.005
更新日期:2014-06-01 00:00:00
abstract::Neurophysiologic intraoperative monitoring, using somatosensory, brainstem auditory, and visual evoked potentials, transcranial electric motor stimulation, and electromyography, is typically used during complex surgeries involving the motor and sensory cortex, brainstem, cranial nerves, spinal cord, nerve root, periph...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.pediatrneurol.2010.11.008
更新日期:2011-03-01 00:00:00
abstract::Congenital hypotonia with favorable outcome is characterized by an early neonatal onset and a benign clinical course. The old term, proposed by Walton, was benign congenital hypotonia, denoting the presence of muscle weakness and hypotonia, with the exception of Werdnig-Hoffmann disease. It has been clear that this te...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(02)00379-x
更新日期:2002-05-01 00:00:00
abstract::The objective of this study is to compare the neurodevelopmental outcome between very low birth weight infants with and without sonographic disproportionate enlargement of occipital horn. We retrospectively reviewed the brain sonography of all very low birth weight infants born at National Taiwan University Hospital b...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(03)00411-9
更新日期:2004-01-01 00:00:00
abstract::The aim of this study was to determine the incidence and describe the factors influencing ictal cardiac arrhythmias in children with epilepsy. A 2-year review within a pediatric epilepsy monitoring unit revealed 2066 electrographically confirmed seizures in 139 patients. Demographic, seizure, and cardiac variables wer...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2009.10.010
更新日期:2010-03-01 00:00:00
abstract::The relationship between the dose of ACTH and the initial effect was investigated in 41 children with infantile spasms. More than 0.015 mg (0.6 IU)/kg/day of ACTH was needed for a good initial response of seizures and electroencephalographic abnormalities. The relationship between the dose of ACTH and long-term progno...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(90)90114-g
更新日期:1990-07-01 00:00:00
abstract::Pregabalin is a new antiepileptic drug that acts at presynaptic calcium channels, modulating neurotransmitter release. We report on treating consecutive children with severe drug-resistant epilepsy in a prospective, open-label, add-on trial. Nineteen children (63% male) aged 4-15 years (mean, 9.7; S.D., 2.9) were incl...
journal_title:Pediatric neurology
pub_type: 临床试验,杂志文章
doi:10.1016/j.pediatrneurol.2008.12.016
更新日期:2009-05-01 00:00:00
abstract::Epilepsy is a common disorder in pediatric neurology, and electroencephalography (EEG) continues to play an important role in its diagnosis. However, the small size of a child's head and immaturity of the brain make EEG interpretation more difficult in children than in adults. This article presents a new method of EEG...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2013.01.009
更新日期:2013-06-01 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::We describe eight cases of pediatric patients whose neuroimages performed after seizures revealed abnormalities that were compatible with edema surrounding calcified lesions and which disappeared in subsequent examinations. ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(01)00324-1
更新日期:2001-10-01 00:00:00
abstract::The aim of this study is to further clarify ictal electroencephalographic findings of patients with benign partial epilepsy in infancy in order to better understand its neurophysiologic features. The study group consisted of 13 infants with definite benign partial epilepsy in infancy, in whom ictal electroencephalogra...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2006.08.004
更新日期:2007-01-01 00:00:00
abstract::Visual evoked potentials (VEPs) were recorded in 32 children (ages 4 months to 5 years) who were clinically diagnosed as being cortically blind. None of the children had visual or neurologic abnormalities prior to the precipitating insult which included surgery (N = 15), trauma (N = 3), infectious disease (N = 5), hyp...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(91)90006-7
更新日期:1991-03-01 00:00:00
abstract::Cortical development in the first years of age for children with very low birth weight is not well characterized. We obtained high-resolution structural magnetic resonance images from children aged 18-22 months (16 very low birth weight/7 term) and 3-4 years (12 very low birth weight/8 term). Cortical surface area and...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2011.06.001
更新日期:2011-10-01 00:00:00
abstract::Cardiac abnormalities, often heralded by electrocardiographic alterations, at times may become a serious problem in patients with neuromuscular disorders and occasionally lead to death. Electrocardiographic monitoring can identify patients whose conduction defects will benefit from the use of demand pacemakers. ...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/0887-8994(85)90039-6
更新日期:1985-03-01 00:00:00