Abstract：
:The authors investigated by immunohistochemistry the distribution of protective protein in human tissues. Immunoreactivity was observed in the cytoplasm, revealing a granular pattern and cell type specificity. The most intense staining was observed in the large neurons of brain, distal and collecting tubular cells of kidney, epithelial cells of bronchus, and Leydig cells of testis. In a patient with galactosialidosis type IIa, all these stains were absent. The neurons that were most strongly stained in the control group, such as the Betz cells, neurons in the basal forebrain, motor neurons in the cranial nerve nuclei, and ventral horn cells of the spinal cord, were markedly ballooned in the patient with galactosialidosis.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Sohma O,Mizuguchi M,Takashima S,Satake A,Itoh K,Sakuraba H,Suzuki Y,Oyanagi Kdoi
10.1016/s0887-8994(98)00151-9subject
Has Abstractpub_date
1999-03-01 00:00:00pages
210-4issue
3eissn
0887-8994issn
1873-5150pii
S0887-8994(98)00151-9journal_volume
20pub_type
杂志文章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：:Relapsing neuromyelitis optica is rare in children. The identification of a highly specific serum autoantibody marker (neuromyelitis optica-immunoglobulin G) differentiates neuromyelitis optica from other demyelinating disorders, particularly in clinically challenging cases. We present a child with multiple episodes o...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2008.05.016
更新日期：2008-09-01 00:00:00
abstract：BACKGROUND:To determine the cost and efficacy of admitting patients for intravenous dihydroergotamine treatment and to identify factors associated with a higher likelihood of response to treatment. METHODS:We performed a retrospective review of all pediatric hospitalizations from 2001 to 2010 for intravenous dihydroer...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2016.09.009
更新日期：2017-01-01 00:00:00
abstract：:Carbamazepine has been used successfully in the treatment of different movement disorders and was recently reported to be effective for nonhereditary chorea. In view of the significant side effects associated with the drugs currently used to treat chorea, we sought to further evaluate the efficacy of carbamazepine in ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(00)00177-6
更新日期：2000-08-01 00:00:00
abstract：:An atypical teratoid/rhabdoid tumor of the central nervous system is an aggressive infantile embryonal neoplasm, usually presenting as an infratentorial and intraparenchymatous lesion. We report on magnetic resonance imaging findings of a 22-month-old boy with a biopsy-proven primary rhabdoid tumor, presenting as a si...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2009.07.019
更新日期：2009-12-01 00:00:00
abstract：:Cerebral perfusion pressure (CPP), believed to be a major determinant of neurologic outcome, was monitored at the bedside of high-risk premature newborns during the first few days of life. Intraventricular hemorrhage was presumed to have occurred in only one of the seven infants and was associated with ventriculomegal...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(86)90048-2
更新日期：1986-07-01 00:00:00
abstract：:In children, multiple sclerosis is rare and has some clinical and paraclinical differences compared with adults. The assessment of corticospinal motor tracts is expected to be relevant because of their frequent early involvement in this disease. Reported are the results of transcranial magnetic stimulation in two chil...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(99)00111-3
更新日期：2000-02-01 00:00:00
abstract：:A 4 1/2-year-old girl with acquired immunodeficiency syndrome and prolonged varicella zoster virus skin infection developed multiple ischemic strokes and radiologic and histopathologic evidence of central nervous system vasculitis. Typical features of acquired immunodeficiency syndrome encephalitis were not present an...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(89)90013-1
更新日期：1989-01-01 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：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：: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：OBJECTIVE:We present a child with Rasmussen encephalitis and highlight the pitfalls of diagnosis when magnetic resonance imaging (MRI) is negative for atrophy. We review the literature regarding this issue, introduce the FreeSurfer software as a potential means of noninvasive diagnosis, and discuss methods for prompt a...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.pediatrneurol.2015.12.004
更新日期：2016-06-01 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：:Adenylosuccinate lyase deficiency is an autosomal recessive disorder of purine metabolism resulting from mutations in the ADSL gene on chromosome subband 22q13.1 and associated with a wide range of clinical manifestations. Although there is currently no effective treatment of ADSL deficiency, recognition of the condit...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2010.06.007
更新日期：2010-11-01 00:00:00
abstract：INTRODUCTION:The ketogenic diet is a valuable therapy for patients with intractable epilepsy, but it can result in a variety of complications that sometimes limits its usefulness. Hypoproteinemia is one of the common adverse effects of this diet, although the underling mechanism is largely unknown except for the diet's...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2015.01.009
更新日期：2015-05-01 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：BACKGROUND:Central nervous system complications of bone marrow transplant are a common occurrence and the differential diagnosis is quite broad, including opportunistic infections, medications toxicities, graft versus host disease, and other autoimmune processes. PATIENT DESCRIPTION:We summarize previously reported ca...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.pediatrneurol.2014.07.007
更新日期：2015-01-01 00:00:00
abstract：:Rapid eye movement sleep distribution changes during development, but little is known about rapid eye movement latency variation in childhood by age, sex, or pathologic sleep states. We hypothesized that: (1) rapid eye movement latency would differ in normal children by age, with a younger cohort (1-10 years) demonstr...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2008.06.011
更新日期：2008-09-01 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：:A newborn infant with seizures of unknown etiology that were refractory to treatment with phenobarbitone, phenytoin, midazolam, clonazepam, and vigabatrin is reported. The introduction of the new antiepileptic drug lamotrigine was followed by rapid and sustained control of the seizures. ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(98)00125-8
更新日期：1999-02-01 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：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
abstract：:Occipital lobe epilepsy in children can present as an idiopathic form (i.e., childhood epilepsy with occipital paroxysms) or as a symptomatic form. Forty-three children (18 boys, 25 girls) were divided into the idiopathic group or symptomatic group, according to the classification for epileptic seizures of the Interna...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2007.02.004
更新日期：2007-06-01 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 causes of sixth nerve palsies in 75 children, all of whom had undergone modern neuroimaging, were reviewed. Neoplasms or their neurosurgical removal was the most common cause (n = 34 [45%]); elevated intracranial pressure (nontumor) (15%), traumatic (12%), congenital (11%), inflammatory (7%), miscellaneous (5%), a...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/s0887-8994(98)00090-3
更新日期：1999-01-01 00:00:00
abstract：:We describe a case of female Becker muscular dystrophy with 45,X/46,X,r(X), carrying an out-of-frame deletion in a nonhot-spot region of the DMD gene. Multiplex polymerase chain reaction did not detect the deletion, because the deleted exons 31-42 comprise a nonhot-spot region, and the product for exon 43 was detected...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2008.05.002
更新日期：2008-08-01 00:00:00
abstract：BACKGROUND:Neuronal ceroid lipofuscinoses (NCL) are heterogeneous neurodegenerative disorders. A better understanding of genotype-phenotype-histology correlation is expected to improve patient care and enhance understanding for phenotypic variability. This meta-analysis studies the correlation of NCL genotypes with cli...
journal_title：Pediatric neurology
pub_type： 杂志文章,meta分析,评审
doi：10.1016/j.pediatrneurol.2016.03.018
更新日期：2016-07-01 00:00:00
abstract：:Hashimoto's encephalopathy is an underdiagnosed, steroid-responsive, progressive or relapsing encephalopathy associated with high titers of serum antithyroid antibodies. Although Hashimoto's encephalopathy is well documented in adults, it is rarely observed or studied in children and adolescents. We describe the clini...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2011.09.010
更新日期：2011-12-01 00:00:00
abstract：:Two brothers with congenital myotonic dystrophy also had cystinuria with large renal stones. This report is the first to document the concurrence of cystinuria and congenital myotonic dystrophy. It is uncertain whether these two conditions are coincidental or share a common pathogenesis. ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(87)90025-7
更新日期：1987-07-01 00:00:00
abstract：:To clarify reflex profiles in the first year of life in connection with categories of neurologic abnormality, eight primitive reflexes (i.e., the palmar grasp reflex, the plantar grasp reflex, the Galant response, the asymmetric tonic neck reflex, the suprapubic extensor reflex, the crossed extensor reflex, the Rossol...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(95)00143-4
更新日期：1995-09-01 00:00:00
