Abstract:
:Galloway-Mowat syndrome is a rare condition that is likely hereditary though the underlying offending gene has not been identified, and is characterized by microcephaly and severe nephrotic syndrome culminating in childhood death. Some of the reported cases have abnormalities in neuronal migration and intractable seizures, but many of the described cases focus on the renal pathology and emphasize a diversity of clinical and pathological features. The case described herein includes a thorough neuropathological description, and when the neuroradiology and neuropathology of the previously published cases is scrutinized, a fairly consistent clinical and neuropathological phenotype emerges.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Keith J,Fabian VA,Walsh P,Sinniah R,Robitaille Ydoi
10.1177/0883073810383982subject
Has Abstractpub_date
2011-04-01 00:00:00pages
510-7issue
4eissn
0883-0738issn
1708-8283pii
0883073810383982journal_volume
26pub_type
杂志文章abstract::We accumulated 440 cases of intracranial meningiomas in patients under 16 years of age, and another 27 personal. This review confirms the existence of specific clinical features of spontaneous and radiation-induced meningioma in children. In addition, we discuss various points that suggest a more aggressive behavior o...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/08830738060210010801
更新日期:2006-01-01 00:00:00
abstract::Young children with sickle cell disease are at risk of brain damage, including stroke. We tested the hypothesis that such patients are also at risk of cognitive impairment. We characterized the cognitive ability of kindergarten children to minimize the effect of disease-related school absence. The Memphis City Schools...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380201700204
更新日期:2002-02-01 00:00:00
abstract:OBJECTIVE:Dandy-Walker syndrome (DWS) is a rare neurologic multi-entity malformation. This review aimed at reporting its main nonneurologic comorbidities. METHODS:Following PRISMA guidelines, search in Medline was conducted (2000-2014, keyword: dandy-walker). Age, sex, country, DWS type, consanguinity or siblings with...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073817712589
更新日期:2017-09-01 00:00:00
abstract::Recently described, the congenital Zika syndrome caused by the Zika virus has many features of other congenital infections. This case series study reports 22 infants with congenital Zika syndrome in Brazil who developed infantile spasms during their first year of life. The median age of infantile spasms onset was 4.3 ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073818780105
更新日期:2018-09-01 00:00:00
abstract::Clinical and subclinical seizures occur frequently among children with autistic spectrum disorders. Electrographic status epilepticus in sleep, or continuous spike-wave in slow-wave sleep, is a typical feature of acquired epileptic aphasia and Landau-Kleffner syndrome. Seizures and epilepsy are more common among child...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/088307380401900106
更新日期:2004-08-01 00:00:00
abstract::Using quantitative magnetic resonance imaging morphometry, we report that the whole brain volumes of patients with neurofibromatosis-1 are significantly larger than normal, confirm the prevalence of macrocephaly as about 50%, and report that macrocephaly in patients with neurofibromatosis-1 does not appear to be relat...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380001500303
更新日期:2000-03-01 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::Acute focal neurologic deficits are a rare but known presentation of ornithine transcarbamylase deficiency, particularly in females. We describe here a 6-year-old girl with newly diagnosed ornithine transcarbamylase deficiency who presents with an episode of acute cortical blindness lasting for 72 hours in the absence...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073814535490
更新日期:2015-05-01 00:00:00
abstract::Neural tube defects are common birth defects, the frequency of which appears to be reduced by maternal supplementation and/or fortification of folic acid. Latin Americans have a high incidence of neural tube defects. We surveyed the dietary intake of Honduran women of childbearing age using a 24-hour dietary recall qu...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380201700506
更新日期:2002-05-01 00:00:00
abstract::The ultimate goal for management of patients with cerebral palsy is to help them grow up to become as independent as possible, learn to make their own choices in life, and pursue their own dreams. Optimal mobility is crucial to achieving independence and is also necessary for better health and quality of life in these...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380101600103
更新日期:2001-01-01 00:00:00
abstract::Febrile seizures are the most common form of childhood seizures. The exact mechanism promoting convulsions during a common febrile illness remains unknown, but it is accepted that genetic influences are likely to account for at least some of the cases. Previous studies reported high interleukin-1beta levels in the cer...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738050200070401
更新日期:2005-07-01 00:00:00
abstract::This study aimed to identify the age at first concern and age at referral for rehabilitation services in children with developmental disabilities in India. Two hundred fifty-nine children were included and data were collected from the parents. In children with developmental disabilities (excluding autism spectrum diso...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073812447685
更新日期:2013-04-01 00:00:00
abstract::MECP2 duplication syndrome is an X-linked genomic disorder that is characterized by infantile hypotonia, intellectual disability, and recurrent respiratory infections. Regression affects a subset of individuals, and the etiology of regression has yet to be examined. In this study, alterations in the hypothalamus-pitui...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073815585577
更新日期:2016-02-01 00:00:00
abstract::Spongy degeneration of the central nervous system in infancy (Van Bogaert-Bertrand disease) is a disorder usually thought to occur in Ashkenazi Jewish infants. We report a case occurring in an Arab infant of consanguineous parents. ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307388600100111
更新日期:1986-01-01 00:00:00
abstract::Behçet disease is a systemic vasculitis of unknown etiology that can affect the neurologic system. Neuro-Behçet disease is not well defined in children and adolescents, and the diagnosis is difficult to make in this population as they often present with insufficient symptoms to meet diagnostic criteria. Psychiatric sy...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073813504137
更新日期:2014-09-01 00:00:00
abstract::Reversible posterior leukoencephalopathy syndrome is an increasingly recognized disorder with typical radiologic findings of bilateral gray- and white-matter abnormalities in the posterior regions of the cerebral hemispheres. The majority of patients with reversible posterior leukoencephalopathy syndrome are adults, a...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738060210060901
更新日期:2006-06-01 00:00:00
abstract::The standard physical examination evaluation for a proprioception abnormality depends upon the patient's ability to follow directions and respond to the examiner, a skill not yet developed in toddlers. This study demonstrates a new proprioception examination method that may allow for better localization of lesions and...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073818812348
更新日期:2019-03-01 00:00:00
abstract::We reviewed cranial sonographic studies done on 108 normal newborn infants to determine the prevalence and variability in size of the cavum septi pellucidi (CSP). Infants were classified according to gestational age by 2-week intervals. At 24 weeks, only four normal scans were identified. Between 26 and 34 weeks, ten ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389200700106
更新日期:1992-01-01 00:00:00
abstract::In addition to the typical infantile spasm symptoms, several other symptoms, such as eye movements, have been reported to be associated with infantile spasms, although the relationship between the typical spasms and these other events is not fully understood. Here we present a case with West syndrome. We observed the ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073813489169
更新日期:2013-11-01 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::Sjögren-Larsson syndrome is an inherited disorder of lipid metabolism caused by mutations in the ALDH3A2 gene that codes for fatty aldehyde dehydrogenase, which results in accumulation of fatty aldehydes and alcohols and is characterized by ichthyosis, intellectual disability, and spastic diplegia/quadriplegia. The au...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073812460581
更新日期:2013-10-01 00:00:00
abstract::To date, no study has evaluated changes in oral labial angle as preterm infants mature. The main purpose of this study was to document goniometer measurements of the labial angle of the mouth in preterm infants, to assess changes with development, to compare to findings in healthy term infants, and also evaluate oral ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073815575368
更新日期:2015-10-01 00:00:00
abstract::Multiple risk factors contribute to cognitive impairment in children with β-thalassemia major. For a more refined understanding of this issue, we attempted to evaluate cognitive function in β-thalassemia major patients and identify the relationship between possible cognitive dysfunction and the following: demography, ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073814550827
更新日期:2015-03-01 00:00:00
abstract::The purpose of this study was to examine the psychiatric characteristics of children with Prader-Willi syndrome in Korea, focusing particularly on their behavioral problems and obsessive-compulsive spectrum symptoms. Fourteen patients with Prader-Willi syndrome, together with their parents, underwent a psychiatric int...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738050200021001
更新日期:2005-02-01 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::Three patients with Leigh's syndrome developed respiratory failure following general anesthesia. Although all three had respiratory symptoms prior to the anesthetic, the diagnosis was not suspected at the time of the procedure in two of the children. We reviewed the case notes of 16 other patients with Leigh's syndrom...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389000500214
更新日期:1990-04-01 00:00:00
abstract::We report preliminary studies in 18 girls with Rett syndrome (15 typical, three atypical cases) who were studied using a number of neuropsychologic measures. Results indicate a relative preservation of gross motor and daily living skills at the developmental level of the age of onset of the condition. Other adaptive f...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073888003001s05
更新日期:1988-01-01 00:00:00
abstract::An epileptic syndrome of benign nocturnal childhood occipital epilepsy with excellent prognosis is described. The syndrome is characterized by a clinical ictal triad of nocturnal seizures, tonic deviation of the eyes, and vomiting. There may be marching to involve the head and limbs, ending with a generalized tonic-cl...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307388900400107
更新日期:1989-01-01 00:00:00
abstract::The diagnosis of anterior spinal artery syndrome can be made with high accuracy by thorough clinical examination in combination with typical magnetic resonance imaging findings. Sudden onset of tetra- or paraparesis and dissociated sensory loss with bladder dysfunction are the leading clinical signs. We discuss clinic...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380101600213
更新日期:2001-02-01 00:00:00
abstract::Ischemic strokes in children and young adults are fortunately rare. Contrasted with adult ischemic strokes, pediatric stroke etiologies vary greatly and are often unknown. Childhood lacunar strokes and trauma-induced strokes represent particularly uncommon subsets and have been reported infrequently in the literature....
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073813500850
更新日期:2014-09-01 00:00:00