Abstract:
UNLABELLED:A 6-year-old male with partial ornithine transcarbamylase (OTC) deficiency had acute and rapidly progressive symmetrical swelling of the head of the caudate nuclei and putamina. Clinical presentation was ataxia and dysarthria progressing to seizures and coma; these symptoms gradually resolved with supportive management. Although he had been recently treated for mild hyperammonemia, there was no evidence of acute metabolic decompensation prior to presentation, and plasma ammonia and amino acids were consistent with good metabolic control. This case is novel in that the neurological insult affected the neostriatum of the basal ganglia and the episode occurred in the absence of an apparent metabolic abnormality, unique observations in a patient with OTC deficiency. CONCLUSION:This case suggests that the pathophysiology of metabolic stroke is complicated. It also argues for an evaluation for metabolic stroke in patients with known inborn errors of metabolism who present with unusual neurological symptoms in the absence of biochemical abnormalities. Similarly, this case suggests that patients presenting with unexplained neurological insults might benefit from an evaluation for an inborn error of metabolism.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Keegan CE,Martin DM,Quint DJ,Gorski JLdoi
10.1007/s00431-002-1135-1keywords:
subject
Has Abstractpub_date
2003-04-01 00:00:00pages
259-63issue
4eissn
0340-6199issn
1432-1076journal_volume
162pub_type
杂志文章abstract::Urinary tract infection (UTI) is a common bacterial infection among infants and children. Predicting which children with upper UTI will develop long-term sequelae remains difficult. We aimed at evaluating the predictive value of urine concentrations of interleukin-6 (UIL-6) and interleukin-8 (UIL-8) in subsequent rena...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-012-1914-2
更新日期:2013-06-01 00:00:00
abstract:UNLABELLED:Disseminated atypical mycobacterium infection is essentially reported in cellular immunodeficient children. Cell-mediated immunity including cytokines like tumour necrosis factor alpha (TNF) and gamma interferon (IFN) is the most important factor allowing control of the dissemination of Mycobacterium. We rep...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050583
更新日期:1997-03-01 00:00:00
abstract::Less invasive surfactant administration (LISA) is a method to deliver surfactant to spontaneously breathing premature infants via a thin catheter. Here we report the two-year outcome from the AMV (avoid mechanical ventilation) study, the first randomized controlled trial on this mode of surfactant delivery. No statist...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-020-03572-0
更新日期:2020-08-01 00:00:00
abstract:UNLABELLED:In phenylketonuria, compliance and diet is a difficult issue; it is hard to quantify and is under-researched. It is influenced by many factors. Failure to consume prescribed quantity of protein substitute has been commonly reported and is probably affected by their acceptability, format and timing of adminis...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/pl00014375
更新日期:2000-10-01 00:00:00
abstract::Two unique associations of disease with Escherichia coli O157:H7 are presented. These cases broaden the spectrum of disease associated with this organism which currently includes bloody and non-bloody diarrhoea, haemolytic-uraemic syndrome, and thrombotic thrombocytopenic purpura. ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02106287
更新日期:1990-01-01 00:00:00
abstract::We report here our findings in two Japanese siblings who experienced recurrent bacterial and viral infections since early infancy. Recent symptoms included diarrhoea, conjunctivitis, rashes, headache, sore throat, joint pain, vomiting and vertigo, all similar to those seen in toxic shock syndrome, except for shock. Th...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01956412
更新日期:1994-05-01 00:00:00
abstract::Of 496 neonates and infants less than 1 year of age admitted to the paediatric surgical intensive care unit (PSICU) over a 5 year period (1983-1987), 94 required total parenteral nutrition (TPN) for more than 14 consecutive days, generally due to congenital anomalies of the digestive tract. Cholestasis occurred in 15 ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02171565
更新日期:1990-02-01 00:00:00
abstract:UNLABELLED:In 135 women and 85 men who initially presented for tall stature, the outcome in treated (56 women and 33 men; cases) and untreated (controls) was investigated. At the time of height prediction, cases were significantly taller (P < or = 0.03) than the controls, they had higher target heights (P < 0.001) and ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050740
更新日期:1997-12-01 00:00:00
abstract:UNLABELLED:Congenital central hypoventilation syndrome (CCHS, Ondine's curse syndrome) is a rare respiratory disorder; less than 100 cases have been reported. Familiality of the disease has been discussed, but only few familial cases have been reported so far. In this report we describe the occurrence of CCHS in two ma...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02282890
更新日期:1996-11-01 00:00:00
abstract::In a case of hypochondrogenesis, abnormal fat deposits were found in the chondrocytes, by anatomopathological and by ultrastructural examination. In the cultured fibroblast we were unable to demonstrate abnormal lipid loading. Our case could be isolated from other types of lethal congenital chondrodysplasias--especial...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00443377
更新日期:1983-06-01 00:00:00
abstract::Four months after termination of successful chemotherapy for epipharyngeal B-non-Hodgkin lymphoma, an enlarging anterior mediastinal mass was discovered in a 15-year-old boy. There was no other suspicion of tumour recurrence. A simple thymic rebound was likely and a conservative management was chosen. Follow up for mo...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01958950
更新日期:1992-02-01 00:00:00
abstract::We have evaluated 46 patients with Turner syndrome by clinical examination, M-mode and two-dimensional echocardiography, dynamic exercise testing and 24 h Holter monitoring. Twelve patients (26.1%) had mitral valve prolapse and 7 patients (15.2%) had isolated non stenotic bicuspid aortic valve. Aortic root dilation wa...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441551
更新日期:1989-04-01 00:00:00
abstract::Surfactant-associated protein (SP-A) was measured in tracheal aspirates of ventilated infants with (n = 51) and without (n = 21) respiratory distress syndrome (RDS). SP-A concentrations in samples collected after birth were significantly lower in RDS than in infants ventilated for other reasons than RDS (median 0.03 v...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01957730
更新日期:1992-08-01 00:00:00
abstract:UNLABELLED:Lemierre syndrome used to be a complication of severe oropharyngeal infection with regional thrombophlebitis, septicaemia and septic metastatic infections caused by Fusobacterium necrophorum in the pre-antibiotic era. A case of septic arthritis of the hip caused by F. necrophorum as a complication of tonsill...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050730
更新日期:1997-11-01 00:00:00
abstract::Direct measurements of parathyroid activity are available in only small numbers of children with vitamin D deficiency rickets (VDR). Therefore serum immunoreactive parathyroid hormone (iPTH) and the urinary cyclic adenosine-3',5'-monophosphate excretion (UcAMP) were measured together with other important indices of ca...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00443214
更新日期:1984-01-01 00:00:00
abstract:UNLABELLED:Over the past decade, concerns about bullying and its effects on school health have grown. However, few studies in Turkey have examined the prevalence of bullying in childhood and adolescence and its association with health problems. The current study aimed to examine the prevalence and manifestation of bull...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-012-1782-9
更新日期:2012-10-01 00:00:00
abstract:UNLABELLED:The pathogenesis of sporadic hemiplegic migraine remains unclear, and perfusion-weighted magnetic resonance imaging (PWI) has been used for characterization of hemodynamic changes in migraine aura. We report a case of sporadic hemiplegic migraine in which magnetic resonance perfusion imaging showed left cere...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-015-2609-2
更新日期:2016-02-01 00:00:00
abstract:UNLABELLED:The aim of this study is to give a systematic overview on publications having investigated the allergy preventive effect of extensively and/or partially hydrolysed infant formulas. Publications were searched by several strategies. Inclusion criteria were: prospective cohort study, randomisation, family histo...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/pl00008442
更新日期:2001-06-01 00:00:00
abstract:UNLABELLED:Fibronectin (a glycoprotein which modulates inflammation) may decrease mortality in systemic infection. Children with meningococcal disease (MCD) may have low fibronectin levels. We aimed to compare plasma fibronectin levels in children with MCD and controls, correlate fibronectin levels with interleukin-6 (...
journal_title:European journal of pediatrics
pub_type: 杂志文章,多中心研究
doi:10.1007/s004310050636
更新日期:1997-06-01 00:00:00
abstract::Three infants with severe combined immunodeficiency and adenosine deaminase (ADA) deficiency were treated by T-cell depleted bone marrow transplantation (BMT), using human leukocyte antigen (HLA)-haploidentical parents as donors. In the first patient, two initial transplants failed to engraft and no change of the immu...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01995857
更新日期:1989-11-01 00:00:00
abstract::Coeliac disease and type 1 diabetes mellitus can frequently coexist, presumably due to a common genetic predisposition. The present study was designed to evaluate the frequency of coeliac disease among Hungarian diabetic children and to study the effect of gluten-free diet on glycaemic control. A total of 205 diabetic...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-002-1103-9
更新日期:2003-01-01 00:00:00
abstract::A case-control study was conducted to examine the association of beta-haemolytic non-group A streptococci and pharyngitis in a paediatric population (n = 502). No association could be found between disease and traditional Lancefield groups B, C, F, or G. When the analysis included the clustering of genetically related...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02026709
更新日期:1991-09-01 00:00:00
abstract:UNLABELLED:In patients with propionic acidaemia (PA), the increased intracellular concentration of propionyl-CoA leads to a relative abundance of odd-numbered long-chain fatty acids (OLCFAs) in body lipids. We investigated the relative amount of OLCFA in erythrocyte membrane lipids over a period of 1-8 years in five pa...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050010
更新日期:2000-01-01 00:00:00
abstract::This is apparently the first report on connatal hemihypertrophy with malignant pheochromocytoma. The coincidence of hemihypertrophy with other diseases, particularly neuroectodermal dysplasias on the one hand and the frequent association of neuroectodermal dysplasias with pheochromocytoma on the other, are emphasized....
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00481506
更新日期:1976-07-12 00:00:00
abstract:UNLABELLED:Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disease, caused by specific primary structural and/or functional abnormalities of the motile cilia, in contrast with the transitory abnormalities seen in secondary ciliary dyskinesia. Disease-causing mutations in at least 16 genes have already be...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-012-1785-6
更新日期:2013-02-01 00:00:00
abstract::A male infant with transient citrullinemia is described. Initially, he was found to have hypertyrosinemia and hypermethioninemia upon routine neonatal screening for inborn errors of metabolism performed at 4 days of age and was revealed to have citrullinemia upon detailed examination of plasma amino acids. At 30 days ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00445674
更新日期:1983-10-01 00:00:00
abstract:UNLABELLED:In a 2 year period seven patients who presented with stridor, without respiratory compromise, and three patients without obstructive symptoms were prospectively selected, and underwent MRI. In eight patients with a vascular ring and a pulmonary sling, MRI delineated the vascular abnormality and normal great ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050651
更新日期:1997-07-01 00:00:00
abstract::We report a prospective, non-blind, randomised, multicentre, parallel group, multinational investigation to compare ceftazidime to aminoglycoside based regimens as empirical treatment in 1316 cases of suspected sepsis in the newborn. In each of the 15 study centres either ceftazidime alone (CAZ) or ceftazidime + ampic...
journal_title:European journal of pediatrics
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1007/BF01954122
更新日期:1992-12-01 00:00:00
abstract::To compare the efficacy of low dose fentanyl infusion and 24% oral sucrose in providing optimal pain relief during laser for retinopathy of prematurity (ROP), we enrolled fifty-eight spontaneously breathing preterm infants undergoing laser. The preterm infants were randomized to either fentanyl infusion (1 mcg/kg/hr) ...
journal_title:European journal of pediatrics
pub_type: 杂志文章,随机对照试验
doi:10.1007/s00431-019-03514-5
更新日期:2020-02-01 00:00:00
abstract::To find out whether cytomegalovirus (CMV) infection during the first months of life influences child development, developmental assessment at the age of 2 years was performed on 116 Finnish children chosen at random in a maternity hospital and followed from birth for the occurrence of CMV infection. Two of the childre...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00496851
更新日期:1979-01-01 00:00:00