Abstract：
:West syndrome or infantile spasms is one of the most frequent epileptic syndromes in the first year of life. The clinical symptoms of infantile spasms are very different than any other type of seizure because of both the absence of paroxysmal motor phenomena (i.e., as in a convulsion) and the lack of significant duration of loss of consciousness (i.e., as in absence epilepsy). Infantile spasms may lead to misdiagnosis by pediatricians and other primary care providers. We assessed the missed diagnoses prior to the diagnosis of infantile spasms. We hypothesized that a delay in treatment may have consequences on neurologic outcome. We conducted a multicenter, retrospective, observational study to evaluate occurrence of misdiagnosis and its possible consequences. We performed a multivariate analysis to evaluate the risk for the outcome 2 years after the diagnosis of infantile spasms. We included 83 infants over a 5-year period. The majority of consulted physicians (301 of 362) did not suggest any specific diagnosis while the others suggested gastroesophageal reflux (7 %), constipation (7 %), or colitis (3 %). Results indicated that a poor outcome was related to a delay in diagnosis, which was observed regardless of the existence of cognitive involvement prior to the start of infantile spasms (Relative Risk: RR 12.08 [1.52-96.3]). These results highlight the importance of making an early diagnosis of infantile spasms.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Auvin S,Hartman AL,Desnous B,Moreau AC,Alberti C,Delanoe C,Romano A,Terrone G,Kossoff EH,Del Giudice E,Titomanlio Ldoi
10.1007/s00431-012-1813-6subject
Has Abstractpub_date
2012-11-01 00:00:00pages
1695-701issue
11eissn
0340-6199issn
1432-1076journal_volume
171pub_type
杂志文章,多中心研究abstract：:Seven cases of phalangeal microgeodic syndrome in childhood are reported. Reviewing the literature, we have found a total of thirty Japanese cases, including the cases of our own. On the other hand, only ten cases have been reported outside Japan. The mean age of onset of the Japanese was six and a half years, which i...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00441709
更新日期：1981-03-01 00:00:00
abstract：:Acute urinary tract infection (UTI) is the most common bacterial infection in childhood. Although hyponatremia was described in ~ 2/3 of these children, its clinical significance is still unclear. Herein, we evaluated the prevalence and clinical implications of hyponatremia in children hospitalized with a UTI. Medical...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-020-03808-z
更新日期：2020-09-19 00:00:00
abstract：UNLABELLED:Gain-of-function mutations of the extracellular calcium (Ca(2+)e)-sensing receptor (CaR) have been identified in patients with familial and sporadic hypercalciuric hypocalcaemia. We describe a patient with sporadic severe hypercalciuric hypocalcaemia with undetectable or very low levels of serum parathyroid ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-003-1331-7
更新日期：2004-02-01 00:00:00
abstract：UNLABELLED:We describe two adolescent girls with a congenital portosystemic shunt who exhibited hyperandrogenism in addition to insulin resistant hyperinsulinaemia. Case 1 was referred to our clinic to undergo a routine clinical work-up prior to tonsillectomy at 14 years of age. Mild liver dysfunction was identified an...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s004310000539
更新日期：2001-05-01 00:00:00
abstract：:Small for gestational age (SGA) infants are known to develop relatively mild transient hyperbilirubinaemia, especially in comparison with premature infants. This may be interpreted as an index of accelerated maturation of particular vital functions. In the present study 12 SGA infants, 12 appropriate for gestational a...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00442433
更新日期：1979-11-01 00:00:00
abstract：UNLABELLED:To date, the genetic basis of Dubowitz syndrome (short stature, microcephaly, facial abnormalities, eczema) is unknown and vascular complications are not known to be associated with this syndrome. In microcephalic osteodysplastic primordial dwarfism type II (MOPD II; disproportionate short statue, microcepha...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-014-2368-5
更新日期：2014-09-01 00:00:00
abstract：UNLABELLED:The aim of this study was to analyze changes in adipose tissue (AT) distribution, intrahepatic lipids (IHL), and insulin resistance (IR) among a group of obese adolescents undergoing a 7-months low-level lifestyle intervention. Thirty-nine obese Caucasian adolescents (mean age 13.9 years, body mass index sta...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-015-2577-6
更新日期：2015-12-01 00:00:00
abstract：:An infant girl three weeks of age with the leading symptom of skin haemorrhages is presented. On further investigation, the signs of severe hepatic damage with hypofibrinogenaemia and prothrombin complex impairment, and renal tubular dysfunction were disclosed. All these pathological symptoms, which were reversed on f...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00465567
更新日期：1977-12-30 00:00:00
abstract：:We review the validity of balloon occlusion aortography (BOA) on the basis of our personal experience with 18 patients with congenital heart disease (mean weight 4.55 g, including 8 neonates). Four of the 18 patients underwent aortic arch angiography using balloon occlusion of the descending aorta. Pulmonary angiograp...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01955515
更新日期：1991-02-01 00:00:00
abstract：:In comparison with other diseases, febrile convulsion, despite its excellent prognosis, is a cause of high anxiety among mothers. The objective of our study was to evaluate the knowledge, concerns, attitudes and practices of the mothers of children with first febrile convulsion. A prospective questionnaire-based study...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-008-0724-z
更新日期：2009-02-01 00:00:00
abstract：:An 11-year-old boy with chronic granulomatous disease caused by cytochrome b deficiency developed right upper lung lobe aspergillosis. Intracerebral lesions developed on maximum doses of flucytosine and amphotericin B. Treatment with 16 mg/kg oral itraconazole was followed by a dramatic clinical improvement and almost...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01958428
更新日期：1991-05-01 00:00:00
abstract：:A case of subacute meningitis caused by Brucella mellitensis is described. The meningitis was refractory to an antibiotic regime. Diagnosis was established by raised antibody titres to Brucella in serum and cerebrospinal fluid (CSF) and positive bone marrow and blood cultures. While treatment with tetracycline trimeth...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00445917
更新日期：1988-11-01 00:00:00
abstract：:Infantile hepatic hemangioma is the most common benign liver tumor during infancy. Prompt diagnosis and timely institution of therapy are of utmost importance. Magnetic resonance imaging (MRI) plays a key role in the correct diagnosis and monitoring of treatment. We report on a 15-week-old girl with multifocal infanti...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s00431-011-1671-7
更新日期：2012-07-01 00:00:00
abstract：:The clinical presentation of combined pituitary hormone deficiency (CPHD) is variable. Some patients present with hypoglycemia during the neonatal period or during the first few years of life. Others present later in childhood with growth failure. We report on 7 patients with very late diagnosed severe hypopituitarism...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-019-03489-3
更新日期：2020-01-01 00:00:00
abstract：:The insulin-like growth factors (IGF-I and IGF-II) circulate bound to specific proteins. Two classes of binding proteins have been relatively well characterized differing in size, immunological activity, and physiological function. This review summarizes the more recent data on IGF-binding proteins, focusing on their ...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/BF01995850
更新日期：1989-11-01 00:00:00
abstract：UNLABELLED:To evaluate the indications, underlying cardiac disorders, efficacy and complications involved with implantable cardioverter-defibrillators (ICDs) in paediatric patients in The Netherlands, the records of all patients aged 18 years or younger who underwent ICD placement were reviewed retrospectively. Between...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-005-1668-1
更新日期：2005-07-01 00:00:00
abstract：:Blood pressure (BP) is variable in children and this could affect BP assessment, but the magnitude of within-visit BP variability (BPV) over consecutive measurements has never been investigated. This study aimed to determine the direction and magnitude of, and factors affecting, within-visit BPV in children and adoles...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-017-3049-y
更新日期：2018-02-01 00:00:00
abstract：:The aim of this study was to assess demographic data, clinical presentation, metabolic features, and treatment in 76 children with urolithiasis presented from 2002 to 2011. Urolithiasis is responsible for 2.5/1,000 pediatric hospitalizations, with new cases diagnosed in 1.1/1,000 admissions. From the observed period, ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-013-2165-6
更新日期：2014-03-01 00:00:00
abstract：:Sandifer syndrome is a rare complication of gastro-oesophageal reflux disease (GERD) when a patient presents with extraoesophageal symptoms, typically neurological. The aim of this study was to review the existing literature and describe a typical presentation and most appropriate investigations and management for the...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s00431-019-03567-6
更新日期：2020-02-01 00:00:00
abstract：:The aim of this study was to evaluate the feasibility of clinical application of infrared thermography (IRT) in the pediatric population and to identify pathological states that can be diagnosed as well as followed up using this non-invasive technique. In real time computer-assisted IRT, 483 examinations were performe...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-007-0583-z
更新日期：2008-07-01 00:00:00
abstract：:We describe here an infant with a large, solitary, fluid-filled lung cyst and hyperinflation of adjacent lung tissue in the same lobe. The combination of a fluid-filled cyst and ectatic emphysema in the same lobe suggests bronchial collapse and airway obstruction as a contributory mechanism for this unusual roentgenog...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00447379
更新日期：1979-10-01 00:00:00
abstract：:Diagnostic tools for the management of acute osteomyelitis (OM) and septic arthritis (SA) have improved over the last decade. To investigate the influence and availability of magnetic resonance imaging (MRI) and nucleic acid testing (NAT), a retrospective cohort study was done. Patients admitted with acute OM or SA be...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-018-3157-3
更新日期：2018-07-01 00:00:00
abstract：:The etiology of asthma includes lifestyle factors. Breastfeeding and introduction of complementary foods have been suggested to affect asthma risk, but the scientific foundation is not solid. Children from the birth cohort All Babies In Southeast Sweden study were included (n = 9727). Breastfeeding duration and timing...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-018-03312-5
更新日期：2019-03-01 00:00:00
abstract：:We aimed to describe the experiences of children and adolescents with congenital heart disease (CHD). Electronic databases were searched until August 2016. Qualitative studies of children's perspectives on CHD were included. Data was extracted using thematic synthesis. From 44 studies from 12 countries involving 995 c...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s00431-017-3081-y
更新日期：2018-03-01 00:00:00
abstract：UNLABELLED:During puberty fat-free mass (FFM) and fat mass (FM) change quickly and these changes are influenced by sex and obesity. Since it is not completely known how these changes affect resting metabolic rate (RMR), the aim of the present study was to investigate the effect of body composition, age, sex and puberta...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s004310050618
更新日期：1997-05-01 00:00:00
abstract：:Cerebral blood flow velocities (CBFV) were measured by the pulsed Doppler method in 41 infants of smoking mothers and in 59 apparently healthy control infants. Although gestational age, birth weight, and systolic blood pressure were lower in infants exposed to tobacco smoke prenatally, systolic (65 +/- 11 vs. 47 +/- 1...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01956151
更新日期：1993-03-01 00:00:00
abstract：UNLABELLED:Human parechoviruses (HPeV) have been recently recognized as important viral agents in paediatric infections. The aims of this study were to investigate the HPeV infection prevalence in infants <1 month in Spain and, secondly, to analyse the clinical and epidemiological characteristics of the infected patien...
journal_title：European journal of pediatrics
pub_type： 杂志文章,多中心研究
doi：10.1007/s00431-015-2566-9
更新日期：2015-11-01 00:00:00
abstract：:Paediatric ambulatory healthcare systems in Europe are, because of historical reasons, diverse and show strikingly different outcomes. All across Europe, the benchmarking of structures, processes and outcomes could reveal opportunities for improving Paediatric Primary Care (PPC). The aim of this study was to develop a...
journal_title：European journal of pediatrics
pub_type： 共识发展会议,杂志文章
doi：10.1007/s00431-018-3140-z
更新日期：2018-06-01 00:00:00
abstract：:Within a 2-year period, from March 1974 until May 1976 10 patients with anorexia nervosa were seen at the children's university hospitals of München (2 patients) and Giessen (8 patients). The patients were 10-16 years old, with one exception all girls, and had the typical cachexia, hypothermia, bradycardia, gray, hair...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00452416
更新日期：1976-12-09 00:00:00
abstract：UNLABELLED:The use of cannabis as both a therapeutic agent and recreational drug is common, and its availability is increasing as a result of legalization in many countries. Among older children, the manifestations of cannabis intoxication are numerous and include both neurological and systemic manifestations that are ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-015-2639-9
更新日期：2016-03-01 00:00:00
