Abstract:
INTRODUCTION:Multiple sulfatase deficiency is biochemically characterized by the accumulation of sulfated lipids and acid mucopolysaccharides. CASE REPORT:We report clinical, biochemical, and molecular findings in a female newborn affected with a severe form of multiple sulfatase deficiency (Mendelian Inheritance in Man (MIM) # 272200). She presented with primary microcephaly, facial anomalies including depressed nasal bridge, nasal hypoplasia, anteverted nostrils, smooth philtrum, limited mobility of hip and knee joints, mild ichthyosis, as well as muscular hypotonia. The diagnosis is based on detection of excessive mucopolysacchariduria and enzymatic assays performed in leucocytes which showed complete deficiency of all of the measured sulfatases. Sequencing of the coding region of the underlying gene, SUMF1, could not identify any mutation. However, failure to detect the corresponding mRNA by reverse transcription polymerase chain reaction proves defective SUMF1 expression. CONCLUSION:The diagnosis of neonatal MSD should be considered when dealing with the association of distinct facial anomalies, limited joint mobility, ichthyosis, and muscular hypotonia.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Busche A,Hennermann JB,Bürger F,Proquitté H,Dierks T,von Arnim-Baas A,Horn Ddoi
10.1007/s00431-008-0871-2subject
Has Abstractpub_date
2009-08-01 00:00:00pages
969-73issue
8eissn
0340-6199issn
1432-1076journal_volume
168pub_type
杂志文章,评审abstract::Two girls aged 6 and 10 years treated with anticonvulsants developed nystagmus and ataxia. The peak plasma concentrations of phenytoin were 42.6 and 46.6 microgram/ml, respectively, compatible with phenytoin toxicity. The decline in plasma phenytoin levels did not fit first order kinetics, but followed Michaelis-Mente...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00445896
更新日期:1980-10-01 00:00:00
abstract::Palivizumab utilization, compliance, and outcomes were examined in infants with preexisting medical diseases within the Canadian Registry Database (CARESS) to aid in developing guidelines for potential "at-risk" infants in the future. Infants who received ≥1 dose of palivizumab during the 2006-2010 respiratory syncyti...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-011-1654-8
更新日期:2012-05-01 00:00:00
abstract:UNLABELLED:Neurological complications of immunizations are rare. We report the case of relapsing acute encephalitis in a boy after two subsequent diphtheria-tetanus-poliomyelitis vaccinations. First the clinical signs were those of acute disseminated encephalitis. During the second episode, the boy experienced optic ne...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02075768
更新日期:1996-02-01 00:00:00
abstract::Most pediatric asthma guidelines offer evidence-based or best practice approaches to the management of asthma exacerbations but struggle with evidence-based approaches for severe acute asthma (SAA). We aimed to investigate current practices in children with SAA admitted to European pediatric intensive care units (PICU...
journal_title:European journal of pediatrics
pub_type: 杂志文章,多中心研究
doi:10.1007/s00431-019-03502-9
更新日期:2020-03-01 00:00:00
abstract::This parallel randomized controlled trial was aimed to evaluate whether parameters as physical fitness, reaction times, self-perception and enjoyment levels, as well as parental and children perspectives, were affected by active video games in inactive and technologically preoccupied children. Data were collected in a...
journal_title:European journal of pediatrics
pub_type: 杂志文章,随机对照试验
doi:10.1007/s00431-019-03457-x
更新日期:2019-10-01 00:00:00
abstract::Sweet syndrome, also referred to as acute febrile neutrophilic dermatosis, is characterized by tender, red inflammatory nodules or papules that occur in association with infection, malignancy, connective tissue disease, or following exposure to certain drugs. Although drug-induced Sweet syndrome is rare, granulocyte c...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-010-1201-z
更新日期:2010-12-01 00:00:00
abstract:UNLABELLED:Transient hypothyroxinaemia with normal thyroid stimulating hormone (TSH) levels is a well-known condition in preterm neonates and is generally assumed to be a harmless epiphenomenon of prematurity. This assumption is, however, based on studies that included very few neonates with a gestational age (GA) belo...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01953940
更新日期:1996-03-01 00:00:00
abstract::Understanding which children are at increased risk for poor outcome with COVID-19 is critical. In this study, we link pediatric population-based data from the US Center for Disease Control and Prevention to COVID-19 hospitalization and in-hospital death. In 27,045 US children with confirmed COVID-19, we demonstrate th...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-021-03955-x
更新日期:2021-01-20 00:00:00
abstract:UNLABELLED:Lymphocytic hypophysitis is a rare disorder predominantly affecting females during the antepartum or postpartum period. It is characterized by destruction and lymphocytic infiltration of the pituitary gland, probably by an autoimmune process, leading to a pituitary mass lesion and/or various degrees of hypop...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s004310050690
更新日期:1997-09-01 00:00:00
abstract:UNLABELLED:Congenital cardiovascular defects, commonly affecting the aortic valve or the aortic arch (50% to 70%), are seen in ca. 17%-44% of patients with Ullrich-Turner syndrome (UTS). However, there are only 36 case reports worldwide on the coincidental finding of partial anomalous pulmonary vein connection (PAPVC) ...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-003-1384-7
更新日期:2004-03-01 00:00:00
abstract::Co-trimoxazole is an effective antibacterial agent for the prophylaxis of urinary tract infection. Because experimental evidence raises the possibility that high-dose cotrimoxazole might interfere with normal somatic growth, the longitudinal growth and growth velocities were analysed in 114 girls receiving long-term, ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442669
更新日期:1983-09-01 00:00:00
abstract::Premature newborns are particularly vulnerable to iatrogenic hypothyroidism due to iodine exposure, usually through skin absorption of iodine-containing disinfectants or intravenous administration of iodinated contrast agents. We report here a case of severe iatrogenic hypothyroidism with goiter and cholestasis, disco...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-008-0782-2
更新日期:2009-04-01 00:00:00
abstract::Allergic diseases are on the increase and can affect the child's well-being. The aim of this survey was to assess regional schools' preparedness in dealing with anaphylaxis following the publication of national and international guidelines for schools in 2014. The survey was developed in 2015 and distributed to school...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-020-03645-0
更新日期:2020-10-01 00:00:00
abstract::A 9-year-old girl presented with a red scaly rash confined to sun-exposed areas which started at 2 years of age and had the appearance of pellagra. Investigation of urinary tryptophan metabolites following an oral tryptophan load, showed increased excretion of kynurenine and kynurenic acid but reduced excretion of 3-h...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01958432
更新日期:1991-05-01 00:00:00
abstract::Male pseudohermaphroditism (MPH) is defined as incomplete masculinization in patients with normal male karyotype (XY) and testicular histology. MPH encompasses a spectrum of female to male phenotypes and presents both diagnostic and technical challenges to the surgeon. Once gender is assigned, based on phenotype, adeq...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF02125449
更新日期:1993-01-01 00:00:00
abstract:UNLABELLED:High-flow nasal cannula (HFNC) is a widely used ventilatory support in children with bronchiolitis in the intensive care setting. No data is available on HFNC use in the general pediatric ward. The aim of this study was to evaluate the feasibility of HFNC oxygen therapy in infants hospitalized in a pediatric...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-013-2094-4
更新日期:2013-12-01 00:00:00
abstract::An Arab Moslem kindred is reported in which six abnormal male fetuses were born in three closely related sibships. They had amelia, malformed head and other severe skeletal and visceral malformations. The similarities and differences between the developmental and inherent characteristics found in our patients and in f...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441792
更新日期:1985-11-01 00:00:00
abstract::Brain hypoxia after cardiac arrest leads to damage of the neuronal cell membrane. Citicoline is necessary for the synthesis of cell membrane. We planned to assess the neuroprotective effect of citicoline in children after cardiac arrest. This randomized controlled trial was carried out at pediatric intensive care unit...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-020-03871-6
更新日期:2020-11-10 00:00:00
abstract::We report mother and son with the ulnar-mammary syndrome type Pallister: both had postaxial polydactyly in one upper limb and absence or hypoplasia of the axillary apocrine glands bilaterally. The mother had total lack of the mammary gland tissue and absence of one kidney. Her son also had unilateral oligodactyly, an ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00444644
更新日期:1976-11-03 00:00:00
abstract::One year's experience in screening for congenital hypothyroidism in Greece is reported. Thyroid stimulating hormone (TSH) determination by a radioimmunoassay on dried blood spots was selected as the screening method. During the first year of screening 75,879 newborn infants were tested from Guthrie blood spots taken o...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441314
更新日期:1981-10-01 00:00:00
abstract::Consanguinity is not the only factor influencing the occurrence of autosomal recessive disorders such as familial Mediterranean fever (FMF). The extended, multiple consanguineous Turkish pedigree presented here demonstrates that the population frequency of certain mutations (so-called "ancient" mutations) can be at le...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-007-0572-2
更新日期:2008-07-01 00:00:00
abstract::Twenty patients with rheumatoid arthritis or Still's disease associated with growth failure were treated with human growth hormone, 7.5 to 17 U/m2 body surface per week. Five patients did not respond with better growth. In the remainder the mean growth rate increased from 1.9 cm/year (range: 0 to 3.3) to 6.2 cm/year (...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441894
更新日期:1979-01-18 00:00:00
abstract::Respiratory and arousal responses to mild hypoxia (15% oxygen in nitrogen) were recorded in 18 healthy infants and 33 infants who had sustained severe sleep related apnoeic events (ALTE). Respiratory movements and transcutaneous gas pressures (tcPO2 and tcPCO2) were continuously monitored during the 10 min test. The c...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441560
更新日期:1989-04-01 00:00:00
abstract::Changes of the complement components in the sera of 13 children with treated coeliac disease were studied after gluten challenge. The levels of C 1 and C3-activator (factor B) were significantly decreased at 4 h after the challenge, as were the levels of total complement (CH 50) and the components C 1, C 4 and C 1-ina...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01846034
更新日期:1980-08-01 00:00:00
abstract:UNLABELLED:Reports on schistosomiasis in children growing up in Europe are rare despite increased travel activity. We report on eight male and three female German children aged 50 months to 15 years with schistosomiasis. Six children were asymptomatic, whereas two presented with typical signs of Katayama fever. Persist...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310051326
更新日期:2000-07-01 00:00:00
abstract:UNLABELLED:Increased plasma tumour necrosis factor alpha (TNF) concentration correlates with mortality in sepsis. We suggested that pentoxifylline (PTXF), which is known to inhibit TNF production, may improve survival and attenuate clinical symptoms of sepsis in neonates. Plasma TNF levels were evaluated in 29 newborn ...
journal_title:European journal of pediatrics
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1007/BF01955273
更新日期:1996-05-01 00:00:00
abstract:UNLABELLED:Patients diagnosed with intracranial teratoma are at risk for developing a recurrent malignant germ cell tumor. We describe a 14-year-old boy initially diagnosed with a mature teratoma in the pineal region that recurred as a metastatic beta-human chorionic gonadotropin (βHCG)-secreting germ cell tumor 3 year...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-014-2282-x
更新日期:2014-08-01 00:00:00
abstract:UNLABELLED:Familial Mediterranean fever (FMF) is characterised by recurrent fever and serositis. The most important complication of the disease is amyloidosis. Cheap and non-invasive methods would be important in predicting or establishing the early diagnosis of amyloidosis. For this purpose, we studied the role of uri...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-003-1173-3
更新日期:2003-05-01 00:00:00
abstract::The involvement of minors in clinical research is inevitable to catch up with the lack of drugs labeled for pediatric use. To encourage the responsible conduct of pediatric clinical trials in the EU, an extensive legal framework has been developed over the past decade in which the practical, ethical, legal, social, an...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-008-0915-7
更新日期:2009-10-01 00:00:00
abstract::This study aimed to estimate the number of infants who died of unrecognized congenital adrenal hyperplasia (CAH) in Austria and the Czech Republic within the past 13 years, before the introduction of adequate neonatal screening. The study was based on retrospective analysis of neonatal screening cards of 242 infants w...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-006-0154-8
更新日期:2007-01-01 00:00:00