Abstract：
:Charcot-Marie-Tooth disease type 1A (CMT 1A) is an autosomal dominant demyelinating polyneuropathy associated with a 1.5-Mb duplication of the p11.2-p12 region of chromosome 17, including the peripheral myelin protein-22 (PMP-22) gene (CMT 1A duplication). We report a male patient with a de novo CMT 1A diagnosed on clinical, electrophysiologic, and molecular grounds. Motor nerve conduction velocity (MCV) of the patient was 10.9 m/s in the ulnar nerve. The MCV of both his parents was within the normal range. Southern blot analysis of BamHI digestion showed reduced intensity rate of SF85/PMP-22, indicating CMT 1A duplication. Haplotype analysis with pVAW4093a, demonstrated that the de novo CMT 1A duplication was of paternal origin.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Tachi N,Kozuka N,Ohya K,Chiba Sdoi
10.1016/s0887-8994(97)80670-4subject
Has Abstractpub_date
1997-07-01 00:00:00pages
67-9issue
1eissn
0887-8994issn
1873-5150pii
S0887899497806704journal_volume
17pub_type
杂志文章abstract：:We sought to distinguish patients testing positive for human herpesvirus 6 from those testing negative, based on clinical features and magnetic resonance images. Sixteen immunosuppresed patients were tested by polymerase chain reaction for human herpes virus 6 DNA in cerebrospinal fluid (nine positive results). Medica...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2009.07.014
更新日期：2010-01-01 00:00:00
abstract：:The clinical course of anti-muscle specific kinase-positive myasthenia in children has been little reported. Described here is the case of an 8 year-old boy who presented with ptosis and generalized weakness, which resolved within 1 month without any immunomodulatory treatment. This spontaneous remission lasted 6 year...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2008.11.014
更新日期：2009-06-01 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：:Auditory event-related potentials (P300 latency; odd-ball paradigm) were examined in 129 patients with childhood epilepsies and 53 controls. The P300 latency in the patients with epilepsies (373 +/- 39.4 ms) was significantly longer than in controls (356 +/- 38.4), and the prolongation was greatest in the patients wit...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(95)00001-v
更新日期：1995-02-01 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：:Obstetrical brachial plexus palsy, one of the most complex peripheral nerve injuries, presents as an injury during the neonatal period. The majority of the children recover with either no deficit or a minor functional deficit, but it is almost certain that some will not regain adequate limb function. These few cases m...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.pediatrneurol.2007.09.013
更新日期：2008-04-01 00:00:00
abstract：:Postictal psychosis is a state of psychosis following repeated or prolonged complex partial seizures with or without secondary generalization and is well described in adult epilepsy literature. It is sparsely reported in the pediatric literature. This report describes a 12-year-old male presenting with status epilepti...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2005.10.002
更新日期：2006-05-01 00:00:00
abstract：:Transient nonketotic hyperglycinemia is characterized by clinical and biochemical findings similar to those seen in classic nonketotic hyperglycinemia. Abnormalities in amino acids are partially or completely resolved in a period ranging from days to months. Almost all patients with the classic form of nonketotic hype...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/s0887-8994(02)00501-5
更新日期：2003-02-01 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
abstract：:Continuous electroencephalographic monitoring often detects nonconvulsive seizures in critically ill children, but it is resource-intense and has not been demonstrated to improve outcomes. As institutions develop clinical pathways for monitoring, they should consider how seemingly minor variations may exert substantia...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2011.12.009
更新日期：2012-03-01 00:00:00
abstract：:A neuropathologic study was undertaken to examine associated brain damage in patients with fetal and neonatal posthemorrhagic hydrocephalus (PHH). In PHH the association of periventricular leukomalacia and pontosubicular necrosis was not increased, but that of cerebellar subarachnoid hemorrhage and olivo-cerebellar pa...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(95)00183-g
更新日期：1995-10-01 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：: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：:The involvement of the cerebellum in unfavorable outcomes of extreme prematurity is increasingly recognized. Evidence implicates both cerebellar injury and cerebellar growth failure, which, along with supratentorial lesions, aggravate motor and developmental outcomes. We describe clinical and neuroradiologic findings ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2012.09.003
更新日期：2013-01-01 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：:Patients with autosomal dominant Segawa disease (dopa-responsive dystonia) demonstrate excellent, sustained response to low-dose levodopa. In contrast, the development of levodopa limiting treatment dyskinesias is thought to support the diagnosis of other early-onset dystonia/parkinsonism syndromes. We describe an aty...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2012.03.003
更新日期：2012-06-01 00:00:00
abstract：:We report a 13-year-old female who experienced symptoms and signs of Rasmussen encephalitis for the first time at the age of 5 years. Various therapeutic procedures, including conventional and new antiepileptic drugs, steroids, immunoglobulin, plasma exchanges, and partial hemispherectomy, were applied, but their resu...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(03)00216-9
更新日期：2003-08-01 00:00:00
abstract：BACKGROUND:Patients in China with juvenile-onset myasthenia gravis present early, with a high prevalence of purely ocular symptoms, spontaneous remission rates, and low antibody seropositivity. Antibody detection using a cell-based assay has been reported to increase the diagnostic sensitivity in adult-onset myasthenia...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2019.01.016
更新日期：2019-09-01 00:00:00
abstract：BACKGROUND:Autosomal recessive or X-linked inborn errors of intracellular cobalamin metabolism can lead to methylmalonic aciduria and homocystinuria. In neonates, both increased cerebrospinal fluid glycine and cerebrospinal fluid/plasma glycine ratio are biochemical features of nonketotic hyperglycinemia. METHODS:We d...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2016.12.003
更新日期：2017-06-01 00:00:00
abstract：BACKGROUND:Acute cerebellitis is a rare inflammatory syndrome in children, with either infectious or autoimmune etiologies. PATIENT:We describe a 7-year-old girl with a presentation of cerebellitis following group A streptococcal infection. RESULTS:Magnetic resonance imaging showed diffuse symmetrical swelling and ed...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2013.06.003
更新日期：2013-12-01 00:00:00
abstract：:We report a previously undescribed electroencephalographic pattern of epochs of diffuse delta background (85-240 sec) alternating with epochs of classic "burst suppression" (90-270 sec) in a 13-month-old girl with hemolytic-uremic syndrome. A dramatic electroencephalographic improvement was evident on continuous monit...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(90)90120-p
更新日期：1990-07-01 00:00:00
abstract：BACKGROUND:Pediatric patients with epilepsy are at risk for low vitamin D levels, increasing the risk for bone fractures, yet standardized bone health screening is not part of routine care. METHODS:We surveyed pediatric neurologists (n = 68) at our center regarding screening practices, using an 11-item survey; constru...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2019.06.020
更新日期：2020-01-01 00:00:00
abstract：:We sought a simple and accurate method to monitor neonatal hydrocephalic infants using standard computed tomographic scans. Volume measurements were made by means of pixel counting using a personal computer and a drawing device, as a graphic tablet system, over computed tomographic scans of six infants with neonatal h...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(03)00401-6
更新日期：2003-11-01 00:00:00
abstract：:Two patients with neonatal onset of arm weakness resulting from neoplastic involvement of the brachial plexus who were initially considered to have obstetric brachial plexus palsies are reported. The first patient was a 7-day-old female who presented with a left supraclavicular mass that was first detected at 2 days o...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(99)00144-7
更新日期：2000-04-01 00:00:00
abstract：BACKGROUND:Mutations in the voltage-gated sodium channel SCN1A gene are responsible for the majority of Dravet syndrome cases. There is evidence that the Nav1.1 channel coded by the SCN1A gene is involved in sleep regulation. We evaluated sleep abnormalities in children with Dravet syndrome using nocturnal polysomnogra...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2014.01.017
更新日期：2014-05-01 00:00:00
abstract：:In this mixed-methods study, utilization data for disease-modifying therapies were reviewed to determine the adherence rate among our pediatric multiple sclerosis cohort. Adolescents were interviewed to explore their experiences with multiple sclerosis and the impact of peer relationships on adherence to treatment. Se...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2009.03.004
更新日期：2009-08-01 00:00:00
abstract：BACKGROUND:The Hammersmith Infant Neurological Examination is one of several useful tools for early identification of cerebral palsy; however, cut-off scores for cerebral palsy do not consistently distinguish infants with hemiplegia from those typically developing. We hypothesized that use of an asymmetry score, in add...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2018.07.002
更新日期：2018-10-01 00:00:00
abstract：BACKGROUND:The sarcoglycan alpha gene, also known as the adhalin gene, is located on chromosome 17q21; mutations in this gene are associated with limb-girdle muscular dystrophy type 2D. We describe two Turkish siblings with findings consistent with limb-girdle muscular dystrophy type 2D. The evaluation excluded a dystr...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2013.12.024
更新日期：2014-06-01 00:00:00
abstract：:The peripartum period entails the next prenatal interval when novel neuroprotective strategies will be designed and tested. Research development will lead to novel evaluations for maternal-fetal pairs who require inpatient treatment and possible delivery for worsening or acute neurologic problems. Future studies shoul...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.pediatrneurol.2012.06.018
更新日期：2012-12-01 00:00:00
abstract：BACKGROUND:Comorbidities including hearing impairment occur commonly in individuals with cerebral palsy (CP). METHODS:Hearing impairment was assessed in a registry-derived population-based sample of children with CP. RESULTS:Hearing impairment was documented in 12.7% (27 of 212) with less than a quarter of these (or ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2014.07.005
更新日期：2014-11-01 00:00:00
