Abstract：
:A 9-year-old boy with severe growth retardation, mild mental retardation, and hypospadia had a high serum CK level without muscle weakness and atrophy. Muscle biopsy revealed a moderate variation in fiber size with a few necrotic and scattered regenerating fibers. Although muscle membranes were clearly stained by immunostaining with antibody to dystrophin, N-terminal region (2-5E2), fibers in groups revealed striking, intense staining with the other antibody, C-terminal region (4C5), suggesting some aberration of the dystrophin gene near the C-terminal area. His unique clinical features, as well as myopathy, are reported, although further study is necessary to clarify the relationship between the anomalous conditions and dystrophin abnormalities.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Nagai T,Tuchiya Y,Maruyama A,Sakuta R,Nonaka Idoi
10.1016/0887-8994(93)90094-ssubject
Has Abstractpub_date
1993-05-01 00:00:00pages
239-42issue
3eissn
0887-8994issn
1873-5150pii
0887-8994(93)90094-Sjournal_volume
9pub_type
杂志文章abstract：:The case reports of 4 pediatric patients illustrate the complex clinical scenarios in which childhood rhabdomyolysis/myoglobinuria occurs. Children ranged in age from 8-18 years. Presumed etiologies of rhabdomyolysis/myoglobinuria included Neisseria sepsis, exertion-related episodes, dialysis disequilibrium, and diabe...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(91)90091-x
更新日期：1991-05-01 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：: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：:The use of lipid-lowering statins has been associated with raised serum muscle enzymes and, occasionally, with rhabdomyolysis, especially in patients with pre-existing metabolic myopathies. The A3243G mutation is one of the most common mutations associated with mitochondrial disorders. A teenager harboring the A3243G ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2008.09.002
更新日期：2008-12-01 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：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：:Electrical status epilepticus during sleep syndrome and its variants are age-dependent epileptic encephalopathies associated with a sleep-related electroencephalographic pattern of continuous spike-waves, combined with motor or cognitive impairment. These epileptic encephalopathies are usually not responsive to conven...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2005.08.014
更新日期：2006-02-01 00:00:00
abstract：:Neuroblastoma associated with the paraneoplastic syndrome of opsoclonus-myoclonus is well-described. However, presentation with narcolepsy-cataplexy is not well-documented in the literature. Narcolepsy with cataplexy is also rare in children younger than 5 years of age. Here we describe three patients, each presenting...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2012.12.038
更新日期：2013-07-01 00:00:00
abstract：BACKGROUND:Vascular abnormalities in neurofibromatosis type 1 may arise anywhere in the cardiovascular system, and cerebrovascular involvement is the predominant feature of moyamoya syndrome. Because neurofibromatosis type 1 is a neurocutaneous disorder and routine follow-up with cranial MRI is not standard practice in...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2013.04.007
更新日期：2014-01-01 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：:Although valproic acid (VPA) is used to treat infantile spasms, VPA's efficacy in infantile spasms has not been determined in a controlled study. This study evaluated the effect of VPA on infantile spasms in patients who had not responded to adrenocorticotropin (ACTH) and corticosteroid therapy. The hypotheses were te...
journal_title：Pediatric neurology
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1016/0887-8994(85)90006-2
更新日期：1985-01-01 00:00:00
abstract：:Despite the many dire pronouncements of the moribund status of the academic triple threat, this species is far from extinct. Maintenance and, indeed, expansion of this pool of individuals requires their identification and support early in their careers, and nurturing and mentoring throughout their careers. Increasing ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(03)00308-4
更新日期：2003-11-01 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
abstract：BACKGROUND:Acute intermittent porphyria is an inherited disease that is rarely diagnosed in prepubertal children. It can affect the autonomic, peripheral, and central nervous system. Posterior reversible encephalopathy syndrome is a clinicoradiological entity characterized by headache, seizures, altered consciousness, ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2014.05.016
更新日期：2014-09-01 00:00:00
abstract：BACKGROUND:Cyclic vomiting syndrome is characterized by recurrent vomiting that is associated with increased adrenocorticotropic hormone and antidiuretic hormone levels during cyclic vomiting syndrome attacks. However, both prognosis and treatment remain unclear. We therefore evaluated the clinical features, prognosis,...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2016.01.001
更新日期：2016-04-01 00:00:00
abstract：BACKGROUND:Nuclear polymerase gamma (POLG) mutations are the most common cause of inherited mitochondrial disease. POLG mutation diseases have a broad spectrum of clinical manifestations; the lethal infantile form is myocerebrohepatopathy spectrum. PATIENT:A 4-month-old boy was referred for poor feeding, emesis, failu...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2014.06.015
更新日期：2014-11-01 00:00:00
abstract：:Forty-seven patients (39 boys and 8 girls) with infantile autism whose clinical symptoms had matched the diagnostic criteria of DSM III were studied cytogenetically for the occurrence of fragile X [fra(X)] syndrome. The existence of fra(X) chromosome in these patients was screened first by culturing peripheral blood l...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/0887-8994(87)90069-5
更新日期：1987-09-01 00:00:00
abstract：BACKGROUND:Newborns with congenital heart disease have associated brain damage that affects short-and long-term neurodevelopment. Several neuronal biomarkers exist that could predict brain damage. We investigated the pattern of neuron-specific enolase (NSE) and s100B levels after cardiopulmonary bypass surgery in neona...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2017.04.011
更新日期：2017-07-01 00:00:00
abstract：:Chronic oral VP-16 (etoposide) is a chemotherapy regimen with a wide application in oncology and documented efficacy against germ cell tumors, lymphomas, Kaposi's sarcoma, and primary brain tumors. This study was performed to assess the toxicity and activity of chronic oral etoposide in the management of children with...
journal_title：Pediatric neurology
pub_type： 临床试验,杂志文章
doi：10.1016/s0887-8994(00)00249-6
更新日期：2001-02-01 00:00:00
abstract：BACKGROUND:Neonatal neurocritical care is a growing and rapidly evolving medical subspecialty, with increasing numbers of dedicated multidisciplinary clinical, educational, and research programs established at academic institutions. The growth of these programs has provided trainees in neurology, neonatology, and pedia...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.pediatrneurol.2016.06.006
更新日期：2016-10-01 00:00:00
abstract：:Severe brain disorders can be expressed as markedly abnormal encephalopathic EEG patterns in neonates who are usually neurologically depressed, with abnormal levels of reactivity and tone. This symptomatic group is now a minority of medically ill neonates as a result of more vigorous fetal and neonatal resuscitative e...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/s0887-8994(96)00009-4
更新日期：1997-05-01 00:00:00
abstract：:Carpal tunnel syndrome, although rare, is known to occur in children mainly because of genetic or metabolic disorders. The clinical findings are variable and include symptoms of burning pain, tingling, numbness, and weakness or atrophy in the hands of the patients. It is usually diagnosed by demonstration of prolonged...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(03)00280-7
更新日期：2003-10-01 00:00:00
abstract：BACKGROUND:Electrographic status epilepticus in slow sleep or continuous spike and waves during slow-wave sleep is an epileptic encephalopathy characterized by seizures, neurocognitive regression, and significant activation of epileptiform discharges during nonrapid eye movement sleep. There is no consensus on the diag...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2016.02.016
更新日期：2016-07-01 00:00:00
abstract：BACKGROUND:Transient bulbar palsy without involvement of the facial or extraocular muscles is a rare presentation. It is considered a form of cranial polyneuropathy, a variant of Guillain-Barré syndrome that is related to the autoimmune mechanisms induced by preceding infections or vaccinations. However, drug-induced c...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2016.07.011
更新日期：2017-01-01 00:00:00
abstract：:To evaluate the efficacy and safety of intranasal midazolam in the treatment of autonomic crises in children with familial dysautonomia, intranasal midazolam was administered at the hospital to six patients during nine episodes of autonomic crisis. Treatment was successful in seven of nine episodes of autonomic crisis...
journal_title：Pediatric neurology
pub_type： 临床试验,杂志文章
doi：10.1016/s0887-8994(99)00109-5
更新日期：2000-01-01 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：:The pathophysiologic mechanism for stereotypic, bilateral repetitive movements involving the arms and hands (complex motor stereotypies) is unknown. This study used volumetric magnetic resonance imaging to compare cerebral lobes and caudate nucleus in six males with complex stereotypies and average intelligence to age...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2004.09.005
更新日期：2005-02-01 00:00:00
abstract：:Assumption of the vertical position and independent walking are potentially hazardous motor milestones in the developing infant. It has been presumed that the parachute reactions evolved to protect infants from injury during this developmental stage. To determine the relationship between the appearance of the upper an...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(94)90087-6
更新日期：1994-07-01 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：:Forty patients with Sturge-Weber syndrome were studied over a 26-year period. The nevus flammeus was unilateral in 27 patients (twice as often on left side) and bilateral in 13 patients. Only 3 of these 13 patients had bilateral cerebral lesions. Seizures, most of which were focal, were present in 32 patients (80%). T...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(93)90064-j
更新日期：1993-07-01 00:00:00
