Abstract:
AIM:Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare neurodegenerative disorder presenting in children aged 2-4 years with seizures and loss of motor and language skills, followed by blindness and death in late childhood. Initial presenting features are similar to a range of common epilepsies. We aim to highlight typical clinical and radiological features that may prompt diagnosis of CLN2 disease in early disease stages. METHODS:We present a series of 13 Australian patients with CLN2 disease, describing clinical features, disease evolution, neuroimaging, electroencephalogram, biochemical and genetic results. Expert neuroradiological magnetic resonance imaging (MRI) analysis was retrospectively performed on 10 cases. RESULTS:Twelve patients presented with seizures, with initial seizures being focal (n = 4), generalised tonic-clonic (n = 3), absence (n = 3) and febrile (n = 2). Eleven patients (85%) had a language delay before the onset of seizures. Cerebellar or cerebral atrophy was noted in all patients on centralised MRI review, with abnormalities of the brain-stem, ventricles, corpus callosum and hippocampi. CONCLUSIONS:Early language delay with the onset of seizures at 2-4 years of age is the hallmark of CLN2 disease. MRI findings of early subtle atrophy in the cerebellum or posterior cortical regions should hasten testing for CLN2 disease to enable early initiation of enzyme replacement therapy.
journal_name
J Paediatr Child Healthjournal_title
Journal of paediatrics and child healthauthors
Johnson AM,Mandelstam S,Andrews I,Boysen K,Yaplito-Lee J,Fietz M,Nagarajan L,Rodriguez-Casero V,Ryan MM,Smith N,Scheffer IE,Ellaway Cdoi
10.1111/jpc.14890subject
Has Abstractpub_date
2020-08-01 00:00:00pages
1210-1218issue
8eissn
1034-4810issn
1440-1754journal_volume
56pub_type
杂志文章abstract::Congenital chylothorax is the accumulation of lymphatic fluid within the pleural space. Cases unresponsive to conservative management usually require surgery. Octreotide has been used successfully to treat post-traumatic chylothoraces in the paediatric and adult population. Its exact mode of action is uncertain but it...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章,评审
doi:10.1111/j.1440-1754.2004.00471.x
更新日期:2004-09-01 00:00:00
abstract::The role of bioelectrical impedance (BI) in estimating the pharmacokinetics and, therefore, individualized doses, of aminophylline in preterm infants (gestational age 26-35 weeks) was assessed in a two-phase study. Multiple regression analysis in the first group of neonates (phase I, n = 19) identified resistance, rea...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.1993.tb00462.x
更新日期:1993-04-01 00:00:00
abstract:AIM:Fetal bowel dilatation (FBD) in the late trimester of pregnancy can be related with varies of prognosis. Our aims were to obtain antenatal factors that might have relevance for the distinct prognosis with FBD. METHODS:Seven features of 68 pregnancies presented with FBD were assessed. The best cut-off value to pred...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.14825
更新日期:2020-07-01 00:00:00
abstract:AIM:To describe the prevalence of nicotine dependence and acceptance of nicotine replacement therapy (NRT) in young people entering custody, where smoking is not allowed. METHODS:Cross-sectional study in 2013. SETTING:All New South Wales Juvenile Justice Centres. PARTICIPANTS:Incarcerated youth, aged 12-21 years. M...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.13526
更新日期:2017-07-01 00:00:00
abstract::Five children with multiple relapsing steroid-dependent nephrotic syndrome were treated with continuous cyclosporin for periods ranging from 18 to 48 months. Renal biopsy showed mild mesangial proliferation in three of the children and minimal change in two. All children previously had been treated with cyclophosphami...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.1993.tb00484.x
更新日期:1993-06-01 00:00:00
abstract:BACKGROUND:Acute flaccid paralysis (AFP) is the most common clinical presentation of acute poliovirus infection, occurring in 0.1-1% of infected cases. AFP surveillance has been used world-wide to monitor the control and eradication of circulating wild poliovirus. This study aims to review the significance of all enter...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2006.00875.x
更新日期:2006-06-01 00:00:00
abstract:AIM:Children with inflammatory bowel disease (IBD) appear to be at increased risk of psychosocial problems, but there are few large-scale studies related to mental health in paediatric IBD. We aimed to assess the use of antidepressants among adolescents with recent-onset IBD. METHODS:In a Finnish nationwide register-b...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.12516
更新日期:2014-07-01 00:00:00
abstract::We present the case of a 16-year-old male who presented reporting a 6-month history of lowered mood, fatigue, anhedonia, disturbed sleep and heightened anxiety. On further questioning he reported restricted eating and weightlifting for at least 1 h on a daily basis. Investigations revealed findings compatible with sec...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.12495
更新日期:2014-09-01 00:00:00
abstract:OBJECTIVES:To document whether medically stable infants can be transferred safely from incubators to unheated, open cots at 1500 g. METHODS:Four cohorts were recruited in a stepwise observational trial of transfer from incubators to unheated, open cots. We aimed to transfer the first 15 infants into cots on reaching a...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2005.00754.x
更新日期:2005-12-01 00:00:00
abstract:OBJECTIVE:To explore the opinions of non-tertiary obstetricians towards the care and outcome of extremely premature infants. METHODS:A structured questionnaire was mailed nationally to 232 obstetricians affiliated to maternity facilities with Level II nurseries. RESULTS:The overall response rate was 75% (n = 174) aft...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1046/j.1440-1754.2003.00187.x
更新日期:2003-08-01 00:00:00
abstract:AIM:To determine whether home-use icterometry improves parental recognition of neonatal jaundice, early care seeking and treatment to minimize risks of bilirubin encephalopathy. METHODS:Cluster-randomised controlled trial of community-level icterometry used at home by mothers in Chi Linh, Vietnam. Rural health-care wo...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章,随机对照试验
doi:10.1111/jpc.12611
更新日期:2014-09-01 00:00:00
abstract:AIM:To report infant care practice prevalence for known modifiable sudden infant death syndrome (SIDS) risk factors among a generally disadvantaged yet low-SIDS rate population of mothers with Pacific infants. METHODS:The Pacific Islands Families study follows a cohort of Pacific infants born at a large tertiary hospi...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2007.01085.x
更新日期:2007-05-01 00:00:00
abstract::There is evidence that complementary and alternative medicine (CAM) is commonly being used for Australian children, however, at the same time, many doctors have little interest or understanding of the topic. Just as with mainstream treatments, CAM therapies have significant potential for adverse effects and drug inter...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1046/j.1440-1754.2003.00236.x
更新日期:2003-11-01 00:00:00
abstract:AIM:Hepatitis A and E are enteric viral diseases that are characteristically found in developing countries. Sero-epidemiological data about both infections showed higher prevalence rates soon after the 1999 earthquakes in Duzce, Turkey. The aim of the present study was to evaluate the data 4 years after the earthquakes...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2007.01248.x
更新日期:2008-04-01 00:00:00
abstract::Pyogenic sacroiliitis is an uncommon infection often diagnosed late because of poor localization of symptoms and inadequate physical examination. We describe a 12-year-old girl whose osteomyelitis and pyogenic sacroiliitis was initially misdiagnosed and discuss examination, investigation and management of the conditio...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2004.00372.x
更新日期:2004-05-01 00:00:00
abstract:AIM:The aim of this study was to determine the frequency, risk factors and anthropometric measurements of fetally malnourished, liveborn singleton term neonates. METHODS:The computed delivery room data of 11.741 liveborn singleton term neonates was used to compare malnourished and nourished newborns. RESULTS:Of the t...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2012.02520.x
更新日期:2012-10-01 00:00:00
abstract::A population of consecutively surviving very low birthweight (VLBW) infants comprising 41 infants (24 female) birthweight less than 1000 g and 108 infants (63 female) birthweight 1000-1500 g received detailed audiological evaluation. The audiological test battery comprised auditory brainstem evoked response (ABR) prio...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.1992.tb02636.x
更新日期:1992-04-01 00:00:00
abstract:AIM:Despite targeting newborns at risk of hypoglycaemia based on clinical characteristics, blood glucose measured at 1 and 4 h of age is frequently normal. Identification of at-risk newborns at the greatest risk of hypoglycaemia would allow more targeted, earlier intervention. We aimed to determine the ability of calcu...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.14473
更新日期:2019-12-01 00:00:00
abstract:OBJECTIVE:To determine the prevalence of developmental dysplasia of the hip (DDH) in South Australia (SA) in 1991, the proportion of cases detected in the neonatal period and the perinatal risk factors for DDH. METHODOLOGY:Cases of DDH born in SA in 1991 were identified from multiple sources and their clinical data li...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.1997.tb01019.x
更新日期:1997-04-01 00:00:00
abstract::There is ever-increasing pressure on hospital resources in general and emergency departments (ED) in particular. At the same time, there is increasing recognition that traditional inpatient ward-based care is not necessary for the majority of children presenting to the ED with acute illness, and that there are patient...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章,评审
doi:10.1111/jpc.13100
更新日期:2016-02-01 00:00:00
abstract::We discuss a recently resettled African refugee child with acute schistosomiasis, who presented with fever, hepatosplenomegaly and marked eosinophilia. We outline the differential diagnoses of eosinophilia in the recently resettled refugee and returned traveller and outline the epidemiology and clinical spectrum of sc...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2012.02523.x
更新日期:2012-10-01 00:00:00
abstract::Growth charts are the mainstay of monitoring growth in babies who were born small or preterm. A variety of different charts are available, each with specific limitations. Most birthweight centile charts underestimate growth restriction in preterm babies and there are few good charts for monitoring longitudinal growth ...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章,评审
doi:10.1111/j.1440-1754.2012.02534.x
更新日期:2012-09-01 00:00:00
abstract:OBJECTIVE:A study was conducted to determine whether the prevalence of risk factors among pre-adolescent children is associated with their parents' risk factor status and what influence family history of ischaemic heart disease (IHD) and socio-economic status (SES) had. METHODOLOGY:This was a cross-sectional study of ...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.1995.tb00786.x
更新日期:1995-06-01 00:00:00
abstract::A retrospective study of 9070 female infants born at the Foothills Provincial Hospital was conducted to determine the incidence of labial fusion at birth. A prospective study was also conducted on 1970 female patients assessed through a paediatric outpatient clinic to determine the incidence of labial fusion in this p...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.1993.tb00495.x
更新日期:1993-06-01 00:00:00
abstract:AIM:This study was designed to investigate whether the playing-back of the recorded maternal voice through the headphones to children undergoing bilateral ophthalmic surgery has clinical effects on the incidence of emergence agitation, and the anaesthesia recovery course. METHODS:In this prospective, blinded and rando...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.14948
更新日期:2020-09-01 00:00:00
abstract:OBJECTIVES:To identify and demonstrate necrotizing dermatitis in infancy; an uncommon, puzzling syndrome, in which anecdotal reporting and personal experience indicates that one third of cases may require skin grafting. Much informed discussion about the pathogenesis of this distressing syndrome centres on the role of ...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2005.00531.x
更新日期:2005-01-01 00:00:00
abstract:OBJECTIVES:To confirm the presence of human metapneumovirus (hMPV) in New Zealand and establish its prevalence in selected paediatric patient groups. METHODS:Nasopharyngeal swabs were collected in two separate paediatric studies enrolling children clinically diagnosed with either bronchiolitis or pneumonia and tested ...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2004.00461.x
更新日期:2004-09-01 00:00:00
abstract:OBJECTIVE:To identify which clinical situations are the most difficult to manage for general paediatricians in Victoria, Australia. METHODS:Self-administered questionnaires were sent to general paediatricians in Victoria. They were asked their opinions regarding what were the most difficult and the most dangerous clin...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1046/j.1440-1754.2002.00017.x
更新日期:2002-10-01 00:00:00
abstract:AIM:To examine the association of life-style factors, including second-hand smoke, with dental caries among 3-year-old children in Wuxi, China. METHODS:A multi-stage stratified random cluster sampling method was used, and 283 children were recruited. The prevalence of dental caries was 29.3% (83/283). RESULTS:Univari...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.14566
更新日期:2020-02-01 00:00:00
abstract:AIM:We aim (i) to characterise the clinical features of vitamin A deficiency (VAD) in a small cohort of Australian children; (ii) to determine the effects of VAD; and (iii) to quantify the prevalence of ophthalmic review in this group. METHODS:Data collected from the charts incorporated patient demographics, laborator...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.13243
更新日期:2016-07-01 00:00:00