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 lesions; and type III, patchy in the hemispheres. The four boys presented in our study, between 10 and 17 years of age, with classical Pelizaeus-Merzbacher disease, who all had a duplicated proteolipid protein gene, invariably manifested type I despite their various clinical severities. Follow-up MRI after an interval of 5 years and proton magnetic resonance spectroscopy was performed in three of the patients. The white matter on the last MRI was unchanged in volume and the distribution of high-intense areas. Proton magnetic resonance spectroscopy revealed no abnormal peaks. These results were consistent with the lack of definite neurologic regression in the last 5 years and with the pathologic characteristics of well-preserved axons and the absence of sclerosis. Further study is required to precisely determine whether the patterns of MRI findings can be divided into subtypes corresponding to those of proteolipid protein gene abnormalities.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Nezu A,Kimura S,Takeshita S,Osaka H,Kimura K,Inoue Kdoi
10.1016/s0887-8994(97)00212-9subject
Has Abstractpub_date
1998-04-01 00:00:00pages
334-7issue
4eissn
0887-8994issn
1873-5150pii
S0887-8994(97)00212-9journal_volume
18pub_type
杂志文章abstract:BACKGROUND:Ketamine has recently emerged as a promising therapeutic alternative for abortive migraine therapy, likely secondary to N-methyl-d-aspartate antagonism. Most reports examine adults and the intravenous route. Fewer utilize intranasal administration or pediatric populations. Given the limited evidence for intr...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2019.10.007
更新日期:2020-03-01 00:00:00
abstract:BACKGROUND:Exome sequencing has recently been proved to be a successful diagnostic method for complex neurodevelopmental disorders. However, the diagnostic yield of exome sequencing for autism spectrum disorders has not been extensively evaluated in large cohorts to date. MATERIALS AND METHODS:We performed diagnostic ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2017.01.033
更新日期:2017-05-01 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::Hashimoto encephalopathy is a rare, clinically heterogenous condition. Its treatment is based on corticosteroids. A previously normal 12-year-old boy was admitted to our pediatric emergency department with status epilepticus. He experienced a recurrence of status epilepticus after pentobarbital withdrawal, and require...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2011.11.009
更新日期:2012-02-01 00:00:00
abstract::Alexia without agraphia is a rare disconnection syndrome characterized by the loss of reading ability with retention of writing and verbal comprehension. We report a patient who developed alexia without agraphia after undergoing a biopsy for a malignant glioma involving the left thalamus. A 15-year-old right-handed ma...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/S0887-8994(03)00417-X
更新日期:2004-02-01 00:00:00
abstract::This report presents a new mutation in the first Japanese female infant with spinal muscular atrophy with respiratory distress type 1. She manifested the characteristic clinical features, including early-onset respiratory failure due to diaphragmatic paralysis and severe distal muscle weakness. Muscle biopsy in the fe...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2004.11.003
更新日期:2005-04-01 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:BACKGROUND:Autopsy studies in Rasmussen encephalitis reveal areas of sparing within the affected hemisphere. Clinical progression and inflammation are milder with an older onset. We sought to demonstrate radiological corroboration for these patterns. METHODS:In our retrospective study, 38 cases were dichotomized into ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2020.07.016
更新日期:2020-11-01 00:00:00
abstract::The most common clinical syndromes associated with 3-methylglutaconic aciduria are presented. In some patients these syndromes are multisystemic, progressive disorders of unknown etiology. Tissues deriving significant energy through oxidative metabolism (notably brain and cardiac muscle) are most often affected and in...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/0887-8994(93)90046-f
更新日期:1993-03-01 00:00:00
abstract::Hypomelanosis of Ito has been associated with precocious puberty in two cases. This study reports a third case involving a female with hypomelanosis of Ito including severe mental retardation and seizure disorder with autonomic symptoms (gastroesophageal reflux and asthma). At age 5 she developed vaginal discharge, th...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2005.06.004
更新日期:2006-01-01 00:00:00
abstract::Four families are described with an autosomal dominant illness characterized by the childhood onset of recurrent attacks of prolonged ataxia, server vertigo, and vomiting. The attacks often begin in infancy. On the average, attacks occur monthly, and last between one hour to more than a week. Variations in severity oc...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(86)90037-8
更新日期:1986-01-01 00:00:00
abstract::Chromosome X-to-autosome translocations [t(X;A)] are rare rearrangements with an estimated occurrence of 1 to 3 per 10,000 live births. Occurrences of Xq duplications have been observed in male and female subjects in whom the X chromosome segment escapes inactivation and results in functional disomy. We report a case ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2010.10.007
更新日期:2011-03-01 00:00:00
abstract::Amiel-Tison neurologic assessment at term has recently been updated for clinical application. Experience in this field, in addition to a better understanding of pathophysiologic characteristics of the immature brain, has taught us that an increased precision in assessing central nervous system function in the neonate ...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/s0887-8994(02)00436-8
更新日期:2002-09-01 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::Pseudotumor cerebri is a clinical syndrome characterized by increased intracranial pressure in the absence of an intracranial tumor. It is most frequently diagnosed in obese young women, but it is also reported in children of all age groups, including infants. A variety of medical conditions have been suggested as pos...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(98)00035-6
更新日期:1998-08-01 00:00:00
abstract::Nonuniform pathologic changes in chronic inflammatory demyelinating polyneuropathy were previously reported only in adult humans. We analyzed the pathologic features of 12 children, aged 2-17 years, with chronic inflammatory demyelinating polyneuropathy. Six patients manifested a preceding illness. Five patients prese...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2010.04.001
更新日期:2010-08-01 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:PURPOSE:We evaluated the clinical, electrophysiological, imaging, and ultrastructural features of neuronal ceroid lipofuscinoses and its subtypes. METHODS:The clinical, electrophysiological, imaging, histopathological, and ultrastructural features of 68 (age at onset: 4.3 ± 5.4 years) neuronal ceroid lipofuscinoses an...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2013.08.008
更新日期:2014-01-01 00:00:00
abstract::A wide cavum septum pellucidum defined as a separation of greater than 1 cm of the leaves occurs uncommonly. Nine children with wide cavum septum pellucidum were studied; 8 were abnormal. Observed abnormalities included cognitive impairment (8), seizures (4), hypoplasia of the corpus callosum (4), optic nerve hypoplas...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(90)90007-n
更新日期:1990-11-01 00:00:00
abstract::Proteolipid protein (PLP) is the major myelin protein of the central nervous system and is widely believed to play an important structural role in maintaining the myelin compaction. We have studied the early developmental changes of PLP with immunohistochemical methods. Our data demonstrate for the first time a compar...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(97)00099-4
更新日期:1997-10-01 00:00:00
abstract::Mycoplasma pneumoniae is a common cause of respiratory tract infection. Extrapulmonary manifestations of M. pneumoniae infection are also common. The present case is that of a previously healthy 4-year-old boy who displayed a novel simultaneous onset of both acute rhabdomyolysis and transverse myelitis associated with...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2008.10.009
更新日期:2009-02-01 00:00:00
abstract::The contribution of intrapartum hypoxia-ischemia to neonatal encephalopathy in the larger preterm infant remains poorly defined. Such infants could become potential candidates for neuroprotective strategies. The objective of this study was to determine in preterm infants of gestation 31 to 36 weeks, with severe fetal ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2004.06.016
更新日期:2005-01-01 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::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::Evaluation of a 7-month-old girl with developmental delay and intractable seizures revealed hemispheric asymmetry and an enlarged right cerebral hemisphere. Because of a history of seizures refractory to medical therapy, she was admitted for right hemispherectomy, but died of complications of surgery. Postmortem brain...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(97)00091-x
更新日期:1997-11-01 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::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::This report presents a patient with Devics neuromyelitis optica associated with primary Sjögrens syndrome. Her first attack was right-sided optic neuritis at age 10 years. Attacks involving both optic nerves and medulla spinalis were recorded during the ensuing years. The diagnosis of Sjögrens syndrome could not be ma...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2006.07.008
更新日期:2007-01-01 00:00:00
abstract::The diagnosis of postinfectious encephalomyelitis with symmetric lesions in the basal ganglia was confirmed by magnetic resonance imaging in 2 patients. A 7-year-old patient experienced severe dystonia and hyperreflexia; magnetic resonance imaging demonstrated bilateral lesions in the putamina and basis pontes. The ot...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(89)90024-6
更新日期:1989-09-01 00:00:00
abstract::The third case of cyclic vomiting syndrome with a large mitochondrial deoxyribonucleic acid rearrangement is described. Multiple neuromuscular anomalies are present that meet the diagnostic criteria for Kearns-Sayre syndrome, as well as severe symmetrical growth retardation. A 3-kilobase mitochondrial deoxyribonucleic...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2006.09.008
更新日期:2007-02-01 00:00:00