Abstract：
:This report describes two patients, a father and son, with autosomal dominant Emery-Dreifuss muscular dystrophy. Although the father had the common phenotype, the son had a severe phenotype including early onset of weakness and fatal cardiomyopathy in childhood. Among the patients with severe phenotype of autosomal dominant Emery-Dreifuss muscular dystrophy, he is the first to have familial onset, and in the severe end of this disease spectrum.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Higuchi Y,Hongou M,Ozawa K,Kokawa H,Masaki Mdoi
10.1016/j.pediatrneurol.2004.12.011subject
Has Abstractpub_date
2005-05-01 00:00:00pages
358-60issue
5eissn
0887-8994issn
1873-5150pii
S0887-8994(05)00036-6journal_volume
32pub_type
杂志文章abstract：:The acute effects of low-dose clonazepam on seizure frequency in children with epilepsy was evaluated. In an open study, 19 children with epilepsy (15 generalized and four partial) were examined during hospitalization with recordings of seizures by trained personnel. Seizures were counted during two 24-hour periods: b...
journal_title：Pediatric neurology
pub_type： 临床试验,杂志文章
doi：10.1016/s0887-8994(02)00468-x
更新日期：2003-01-01 00:00:00
abstract：:The nicotinic acetylcholine receptors are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. Mutations in neuronal nicotinic acetylcholine receptor beta 2 subunit have been associated with autosomal dominant nocturnal frontal lobe epilepsies. A major challenge is t...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2003.08.001
更新日期：2004-03-01 00:00:00
abstract：BACKGROUND:Rituximab (anti-CD20) has been used as B-cell-targeted intervention to treat opsoclonus-myoclonus syndrome. Due to isolated reports of chronic hypogammaglobulinemia and B lymphopenia following rituximab in several disorders, and rapid B-cell depletion after a few doses, we reduced the dosage 20% in our clini...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2018.05.003
更新日期：2018-08-01 00:00:00
abstract：:An infant, 26 weeks gestation, had a stormy neonatal course; at 10 hours of age, initial cranial ultrasound apparently demonstrated a left subependymal hemorrhage placed somewhat medially with possible extension into the lateral ventricle. These ultrasound findings were present up to and including a study on the seven...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(88)90073-2
更新日期：1988-09-01 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：: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：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：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：:Vanishing white matter disease is a chronically progressive leukodystrophy with periods of acute deterioration after head trauma and febrile illness. This report describes a child with genetically and clinically confirmed vanishing white matter disease exhibiting frequent episodes of right-sided hemiplegia, aphasia, a...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2005.12.014
更新日期：2006-07-01 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：: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：:Epidural hematoma due to birth trauma is unusual. The presentation is similar to subdural hematoma in the newborn, but the results of subdural puncture may be normal. The CT scan is diagnostic and early surgical evacuation may be lifesaving. ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(85)90010-4
更新日期：1985-01-01 00:00:00
abstract：:Rhizomelic chondrodysplasia punctata is a rare genetic disorder of peroxisomal metabolism that is characterized clinically by shortening of the proximal limbs, cataracts, a characteristic facial appearance, failure to thrive, and psychomotor retardation. This report describes a newborn with a severe phenotype whose ne...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2007.07.006
更新日期：2007-11-01 00:00:00
abstract：:Children with Rett syndrome manifest profound impairments in their ability to speak and use their hands, and exhibit a very limited repertoire of abilities to express themselves, to be neuropsychologically tested, and consequently to be understood. This study examined nonverbal cognitive abilities and visual preferenc...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2012.01.011
更新日期：2012-04-01 00:00:00
abstract：:A 16-month-old girl with a history of Prader-Willi syndrome and progressive macrocephaly manifested large, bilateral, subdural hemorrhages of differing ages on magnetic resonance imaging. Subsequent evaluation revealed a deficiency of von Willebrand factor, but after repeated evaluations, no conclusive evidence of non...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.pediatrneurol.2012.03.011
更新日期：2012-07-01 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：BACKGROUND:Acute disseminated encephalomyelitis (ADEM) is an immune-mediated, inflammatory acquired demyelinating syndrome predominantly affecting the white matter of the central nervous system. METHODS:We describe a three-year-old boy whose clinical presentation was suspicious for ADEM but whose initial imaging abnor...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2016.12.006
更新日期：2017-03-01 00:00:00
abstract：BACKGROUND:The mechanistic target of rapamycin inhibitors everolimus and sirolimus have activity against multiple manifestations of tuberous sclerosis complex and are approved to treat astrocytomas, angiomyolipomas, lymphangioleiomyomatosis, and epilepsy. Cannabidiol is a novel antiepileptic medication. There is lack o...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2019.11.017
更新日期：2020-04-01 00:00:00
abstract：:Nestin is a cytoskeletal protein expressed by neural stem cells, and by immature neurons and glial cells. In an effort to explore the potential of the infant brain for repair and plasticity, we immunohistochemically studied nestin expression in the human cerebral cortex of control subjects and of patients with periven...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2006.12.007
更新日期：2007-03-01 00:00:00
abstract：BACKGROUND:Weight loss is one of the most frequent side effects of topiramate treatment. The aim of our study was to investigate the effect of topiramate on body mass index, serum glucose, insulin, cortisol, leptin, and neuropeptide-Y levels and the role of these variables on the pathogenesis of weight loss in prepuber...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2014.05.001
更新日期：2014-08-01 00:00:00
abstract：:Psychogenic seizures or psychogenic nonepileptic seizures occur in various mental disorders. Obsessive-compulsive symptoms can also imitate epileptic partial seizures, but detailed observations of this phenomenon are rare in the literature. A girl of 13 years was referred to the Department of Child Psychiatry because ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(97)00135-5
更新日期：1998-01-01 00:00:00
abstract：:Postoperative seizures are among the more common complications of cardiac surgery in children. These seizures have traditionally been considered benign, transient phenomena with little, if any, prognostic significance. We report 4 infants with early postoperative seizures following cardiac surgery who later developed ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(94)90111-2
更新日期：1994-10-01 00:00:00
abstract：:Ninety term neonates with hyperbilirubinemia were studied with brainstem auditory evoked response to clarify the ototoxic effect of hyperbilirubinemia, and detect any differences in ototoxic effect between different levels of total serum bilirubin. The response threshold in these neonates was significantly elevated (P...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2007.03.006
更新日期：2007-07-01 00:00:00
abstract：BACKGROUND:The identification of a biomarker for sudden unexpected death in epilepsy (SUDEP) has the potential to save lives. Generalized convulsive seizures and postictal generalized suppression on electroencephalography (EEG) most often precede sudden unexpected death in epilepsy (SUDEP) and are potential biomarkers....
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2017.06.018
更新日期：2017-11-01 00:00:00
abstract：:Mean rectal temperatures in neonates were investigated during sleep state transitions as assessed by visually analyzed electroencephalographic-polygraphic recordings. Continuous 3-hour studies were obtained on 3 term and 5 preterm infants at postconceptional term ages using a 24-channel computerized monitoring system....
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(94)90022-1
更新日期：1994-05-01 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：:This study investigates the expression of some neurotrophic factors (brain-derived neurotrophic factor, glial-derived neurotrophic factor, and nerve growth factor) in the cerebrospinal fluid of infants suffering from idiopathic congenital central hypoventilation syndrome and determines their correlations with this syn...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2005.05.014
更新日期：2005-11-01 00:00:00
abstract：:Mild encephalopathy with reversible splenial lesions has mainly been associated with influenza A and B virus infection. Patients present with neurologic symptoms 1 to 3 days after a prodromal illness and recover completely within a few days. Magnetic resonance imaging typically shows reversible lesions with reduced di...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2012.11.007
更新日期：2013-03-01 00:00:00
abstract：:The pediatric neurologist can fulfill a useful role as a subspecialty consultant concerning the fetus with a suspected brain disorder, given that neurologic disease may occur before the intrapartum period. Brain disorders detected in the neonatal period may also reflect fetal brain damage before dysfunction is first d...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/s0887-8994(03)00234-0
更新日期：2003-09-01 00:00:00
abstract：:Cerebral creatine transporter deficiency, attributable to mutations in the SLC6A8 gene, causes X-linked mental retardation, language delay, epilepsy, and autistic features. In contrast with creatine synthesis defects, the vast majority of patients with SLC6A8 deficiency do not respond to treatment. We describe a Portu...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2011.10.005
更新日期：2012-01-01 00:00:00
