Abstract:
:We report a divergent ependymal tumor of the posterior fossa (ependymoblastoma/anaplastic ependymoma) observed in an 8-year-old boy. The tumor showed the histological pattern typical of an ependymoblastoma (tubular-papillary fetaloid architecture with stratification of the tumor cells) next to areas in which findings typical of an anaplastic ependymoma were detected. The immunohistochemical study confirmed our diagnostic suspicion, allowing us to establish a differential diagnosis with other entities such as medulloblastoma, medulloepithelioma, atypical rhabdoid/teratoid tumor, or metastases.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Ortiz J,Otero A,Bengoechea O,Gonçalves J,Sousa P,Figols J,Bullón Adoi
10.1177/0883073808314160subject
Has Abstractpub_date
2008-09-01 00:00:00pages
1058-61issue
9eissn
0883-0738issn
1708-8283pii
0883073808314160journal_volume
23pub_type
杂志文章abstract::A 12-year-old boy with perinatally acquired human immunodeficiency virus infection an d Centers for Disease Control and Prevention class C3 disease presented with acute onset of confusion and a right-sided movement disorder 5 months after beginning a new antiretroviral regimen. His CD4 count had been below 50 cells/mi...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/088307380201700613
更新日期:2002-06-01 00:00:00
abstract::Neuromyelitis optica is a rare, severe idiopathic disease that predominantly involves optic nerves and spinal cord. Main clinical features of neuromyelitis optica are visual loss, paraparesis or tetraparesis, sensory loss, and sphincter dysfunction. A 13-year-old girl with vision loss and behavioral change was admitte...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073812448837
更新日期:2013-05-01 00:00:00
abstract::A 3 1/2-year-old boy presented with megaloblastic anemia and recurrent episodes of severe lactic acidosis and coma. At age 4 years, he developed sepsis and died; postmortem examination failed to show any gross abnormality in any tissue. Biochemical analysis of muscle showed decreased activities for all respiratory cha...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380401900403
更新日期:2004-04-01 00:00:00
abstract::The purpose of this survey and record review was to characterize emergency department management of unprovoked seizures and status epilepticus in children in Illinois. The survey was sent to 119 participating emergency departments in the Emergency Medical Services for Children program; responses were received from 103...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073814566626
更新日期:2015-10-01 00:00:00
abstract::During the 4-year period, 1982-1986, 18 patients presented to the Children's Hospital, Camperdown, Sydney, with the following features: (1) Recurrent "absences" clinically indistinguishable from childhood absence epilepsy, (2) Normal clinical examination, (3) Electroencephalogram (EEG) demonstrating normal waking back...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389000500403
更新日期:1990-10-01 00:00:00
abstract::We describe a 13-year-old female with abrupt onset urinary retention progressing rapidly to pandysautonomia with symptoms of postural orthostatic tachycardia syndrome, gastroparesis, anhidrosis, pupillary dysfunction, and abdominal pain. Pandysautonomia has been reported frequently in adults, but is less commonly desc...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073812474099
更新日期:2013-12-01 00:00:00
abstract::Acute cerebellitis is a rare condition often considered within the group of acute postinfectious cerebellar ataxia despite its distinctive clinical and imaging features. We retrieved clinical, laboratory, and follow-up data of 15 children diagnosed with acute cerebellitis in our department between 2011 and 2019. There...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073820901407
更新日期:2020-05-01 00:00:00
abstract::Pontine tegmental cap dysplasia is a rare hindbrain malformation syndrome with a hypoplastic pons, a tissue protrusion into the fourth ventricle, and cranial nerve dysfunction. We here report clinical, imaging, and genetic findings of the first extremely low-birth-weight preterm infant with pontine tegmental cap dyspl...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073816680748
更新日期:2017-03-01 00:00:00
abstract::We report 10 years' follow-up of the previously described family with a novel mutation of the KCNA1 gene. The family consisted of 3 affected boys (first seen at ages 3, 11, and 12) and their affected mother and asymptomatic father and sister. They clinically presented with diffuse myokymia, muscle cramps, and lower li...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073812457461
更新日期:2013-11-01 00:00:00
abstract::Gelastic seizure is a rare symptom often associated with hypothalamic hamartoma. We present here a 4-year-old girl with gelastic epilepsy caused by hypothalamic hamartoma and report the magnetic resonance spectrometry and electroencephalographic (EEG) findings. At the age of 2 1/2 years, she developed brief, repetitiv...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380201700111
更新日期:2002-01-01 00:00:00
abstract::A 16-year-old galactosemic patient, homozygous for the 5.5-kb gene deletion, suffered severe neurologic regression following streptococcal infection. Since the gene deletion includes the promoter of interleukin-11a receptor involved in neuronal apoptosis, we questioned whether this patient had no interleukin-11a recep...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073814540520
更新日期:2015-06-01 00:00:00
abstract::The purpose of this study was to assess the cognitive development of 27 children with nonhemorrhagic neonatal stroke (occurring within the first 28 days of life). The cognitive evaluation consisted of the Bayley Scales of Infant Development, administered at 12 and/or 24 months poststroke. Compared with the normative s...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807305784
更新日期:2007-09-01 00:00:00
abstract::The authors describe a pediatric patient with repaired hypoplastic left heart syndrome developing protein-losing enteropathy, hypocalcemia, vitamin D deficiency, and hemichorea. After correction of nutritional vitamin D deficiency with calcium and vitamin D supplementation, the chorea resolved. Hypoalbuminemia also im...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807299956
更新日期:2007-01-01 00:00:00
abstract::Seizures occur in 25% to 40% of children with supratentorial tumors and are the presenting complaint in 10% to 15%. However, when divided by age, only 2% of children with seizures as the presenting complaint of brain tumors were less than 1 year of age. Three children, ranging in age from 20 days to 7 months and seen ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307388700200308
更新日期:1987-07-01 00:00:00
abstract::The epilepsies in childhood are classified as primary (or idiopathic) and secondary (or symptomatic). The primary epilepsies account for two thirds of all childhood epilepsies and are presumed to be genetically determined. In the remaining one third of cases, a neuropathologic lesion can be identified. This paper summ...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/088307389801300801
更新日期:1998-08-01 00:00:00
abstract::Spinal muscular atrophy is one of the most heterogeneous of the single-gene neuromuscular disorders. The broad spectrum of severity, with onset from the prenatal period to adulthood, presents unique challenges in the design and implementation of clinical trials. The clinical classification of subjects into severe (typ...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073807305665
更新日期:2007-08-01 00:00:00
abstract::A suppository for rectal administration of carbamazepine has been developed for situations in which it is unsuitable to use the oral route of administration. In an open, controlled, within-patient study, the pharmacokinetics, clinical efficacy, and tolerability of carbamazepine slow-release tablets were compared with ...
journal_title:Journal of child neurology
pub_type: 杂志文章,多中心研究
doi:10.1177/088307389501000209
更新日期:1995-03-01 00:00:00
abstract::We report our experience in a cohort of patients with hyperphenylalaninemia in a tertiary care referral center in Lebanon. Forty-one sequential patients were studied: 34 classical phenylketonuria (PKU), 3 hyperphenylalaninemia (non-PKU), and 4 biopterin metabolism defects. The majority of cases were clinically diagnos...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073810375116
更新日期:2011-02-01 00:00:00
abstract::Using a questionnaire-based study, we assessed the parent-reported prevalence of attention-deficit hyperactivity disorders (ADHDs), autism spectrum disorders, and obsessive-compulsive disorders in a group of 351 males with Duchenne muscular dystrophy. Of the 351 males with Duchenne muscular dystrophy, 11.7% were repor...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807309775
更新日期:2008-05-01 00:00:00
abstract::Baló concentric sclerosis is a unique and rare phenomenon in demyelinating disease. Typically thought of as a subtype of multiple sclerosis, Baló concentric sclerosis is characterized pathologically by striking rings of demyelination alternating with areas of preserved myelination. Its exact prevalence in adult and es...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073813517294
更新日期:2014-05-01 00:00:00
abstract:OBJECTIVE:To evaluate the safety and tolerability of adjunctive eslicarbazepine acetate (ESL) in pediatric patients (aged 4-17 years) with refractory focal seizures. METHODS:Pooled safety data from patients aged 4-17 years in Study 208 (NCT01527513) and Study 305 (NCT00988156) were analyzed. Both were randomized, doub...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073819890997
更新日期:2020-03-01 00:00:00
abstract::An infant newly diagnosed with propionic acidemic coma was managed successfully with total parenteral nutrition (TPN) and continuous infusion of insulin. The urinary excretion of 3-hydroxypropionic acid was reduced to 3% of the admission value in 4 days, gradually decreasing to 1.5% in 16 days. The treatment did not p...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738920070011411
更新日期:1992-04-01 00:00:00
abstract::The authors conducted a systematic literature review of preventive pharmacological treatments for episodic childhood migraines searching several databases through May 20, 2012. Episodic migraine prevention was examined in 24 publications of randomized controlled trials that enrolled 1578 children in 16 nonrandomized s...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073813488659
更新日期:2013-10-01 00:00:00
abstract::Concussion is a known risk in youth soccer, but little is known about subconcussive head impacts. The authors provided a prospective cohort study measuring frequency and magnitude of subconcussive head impacts using accelerometry in a middle school-age soccer tournament, and association between head impacts and change...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073816634857
更新日期:2016-07-01 00:00:00
abstract::Neonatal alloimmune thrombocytopenia results from platelet-antigen incompatibility between mother and fetus, leading to antibody-mediated destruction of fetal platelets. With a prevalence of 1 in 1000 births, approximately 4000 infants born in the United States each year develop neonatal alloimmune thrombocytopenia. T...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738010160111001
更新日期:2001-11-01 00:00:00
abstract::Discrimination of odorous molecules in amniotic fluid occur after 30 weeks' gestation; fetuses exhibit differential responses to maternal diet. Olfactory reflexes enable reliable neonatal testing. Olfactory bulbs can be demonstrated reliably by MRI after 30 weeks' gestation, and their hypoplasia or aplasia also docume...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073817690867
更新日期:2017-05-01 00:00:00
abstract::We investigated familial and environmental risk factors in a cohort of South African children diagnosed with attention-deficit hyperactivity disorder (ADHD). A prospective, hospital-based case control study was conducted comprising 50 children diagnosed with ADHD and 50 matched non-ADHD controls. The adjusted effect o...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073814560630
更新日期:2015-09-01 00:00:00
abstract::Primary spinal atypical teratoid/rhabdoid tumor is extremely rare. The authors present a case of atypical teratoid/rhabdoid tumor occurring in a 4-year-old girl. Magnetic resonance imaging The authors showed an intramedullary mass extending from the bulbomedullary junction to T1 with leptomeningeal dissemination. The ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073808319319
更新日期:2008-12-01 00:00:00
abstract::Hereditary sensory and autonomic neuropathies have different phenotypes. We report 2 cousins with differing clinical courses of a hereditary sensory and autonomic neuropathy. The progressive disease in case 1 is dominated by loss of sensation, autonomic crises, and pain. Case 2 shows loss of sensation, mental retardat...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073811416664
更新日期:2012-02-01 00:00:00
abstract::A pseudotumoral presentation of acute hemicerebellitis is rare in pediatric age. The authors report a new single case study of a 7-year-old child with pseudotumoral unilateral cerebellitis mimicking an intracranial tumor, which clinically presented itself with signs of intracranial hypertension and mild contralateral ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073814545114
更新日期:2015-03-01 00:00:00