当前位置： SCI文献检索 > EUROPEAN JOURNAL OF PEDIATRICS期刊下所有文献 > Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome.

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome.

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, microcephaly, facial abnormalities), however, cerebral aneurysms and other vascular abnormalities are frequent complications. MOPD II is a genetic disorder caused by mutations in the pericentrin (PCNT) gene (21q22). We report on a patient who came to our attention as a 22-year-old with subarachnoid bleeding due to a ruptured cranial aneurysm. Until then, the patient was thought and published to have Dubowitz syndrome; previously, he was treated with coronary bypass surgery for extensive coronary angiopathy. Consecutive genetic testing revealed MOPD II. After clinical stabilization, the patient was discharged to a specialized rehabilitation center where he died due to re-rupture of a cranial aneurysm. CONCLUSION:In patients with short stature-especially when clinical features are accompanied by vascular complications-MOPD II should be considered as a differential diagnosis leading to consecutive genetic testing. After detection of mutations in the PCNT gene, a full vascular status including cerebral imaging and cardiac evaluation needs to be determined in order to analyze vascular abnormalities and initiate prophylactic treatment.

journal_name

Eur J Pediatr

journal_title

European journal of pediatrics

authors

Dieks JK,Baumer A,Wilichowski E,Rauch A,Sigler M

doi

10.1007/s00431-014-2368-5

subject

Has Abstract

pub_date

2014-09-01 00:00:00

pages

1253-6

issue

9

eissn

0340-6199

issn

1432-1076

journal_volume

173

pub_type

杂志文章

相关文献

EUROPEAN JOURNAL OF PEDIATRICS文献大全
  • Early onset sepsis calculator implementation is associated with reduced healthcare utilization and financial costs in late preterm and term newborns.

    abstract：:The neonatal early onset sepsis (EOS) calculator is a novel tool for antibiotic stewardship in newborns, associated with a reduction of empiric antibiotic treatment for suspected EOS. We studied if implementation of the EOS calculator results in less healthcare utilization and lower financial costs of suspected EOS. F...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-019-03510-9

    authors： Achten NB,Visser DH,Tromp E,Groot W,van Goudoever JB,Plötz FB

    更新日期：2020-05-01 00:00:00

  • Bronchial hyperreactivity and history of wheezing in children.

    abstract：UNLABELLED:The objective of this analysis was to determine the relationship between wheezing at different age groups in children and the prevalence of bronchial hyperreactivity at the age of 10. A population-based cross-sectional study was conducted in Leipzig and the region around Halle in Germany. Of 3105 10-year-old...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/BF02190692

    authors： Wjst M,Dold S,Roell G,Reitmeir P,Fritzsch C,von Mutius E,Thiemann HH

    更新日期：1994-09-01 00:00:00

  • Factors influencing breastfeeding duration: a survey in a Turkish population.

    abstract：UNLABELLED:Breastfeeding provides perfect nutrition for infants and is a source of many health benefits for both mother and baby. To obtain the maximum beneficial effects of breast milk, it is necessary to prolong the breastfeeding duration. In this study, we investigated the factors influencing the duration of breastf...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-013-2066-8

    authors： Sencan I,Tekin O,Tatli MM

    更新日期：2013-11-01 00:00:00

  • Haemorrhagic diathesis as a possible early sign of hereditary fructose intolerance.

    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

    authors： Hosková A,Mrskos A

    更新日期：1977-12-30 00:00:00

  • Bullying and victimization among Turkish children and adolescents: examining prevalence and associated health symptoms.

    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

    authors： Arslan S,Hallett V,Akkas E,Akkas OA

    更新日期：2012-10-01 00:00:00

  • Incidence of acute intussusception among infants in eastern France: results of the EPIstudy trial.

    abstract：:The incidence of intussusception in infants varies around the world. The epidemiology of intussusception in France has never been prospectively studied. We performed a prospective observational study with systematic inclusion of all infants aged <1 year with suspected intussusception admitted to the emergency departme...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章,多中心研究

    doi：10.1007/s00431-016-2838-z

    authors： Fotso Kamdem A,Vidal C,Pazart L,Leroux F,Pugin A,Savet C,Sainte-Claire Deville G,Riou França L,Guillemot D,Massol J

    更新日期：2017-03-01 00:00:00

  • Serum bile acids and their conjugates in breast-fed infants with prolonged jaundice.

    abstract：:Serum bile acids and their conjugates were analysed in 20 breast-fed infants with prolonged jaundice. The mean total bile acid levels in serum were increased in the breast-fed infants with jaundice, as compared with those in either breast- or bottle-fed infants without jaundice. However, there were no significant diff...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/BF00491922

    authors： Tazawa Y,Yamada M,Nakagawa M,Konno T,Tada K

    更新日期：1985-05-01 00:00:00

  • Septic arthritis of the hip by Fusobacterium necrophorum after tonsillectomy: a form of Lemierre syndrome?

    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

    authors： Beldman TF,Teunisse HA,Schouten TJ

    更新日期：1997-11-01 00:00:00

  • Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings.

    abstract：UNLABELLED:Rhizomelic chondrodysplasia punctata (RCDP) is clinically characterized by symmetrical shortening of the proximal limbs, contractures of joints, a characteristic dysmorphic face, and cataracts. In the classical form an impairment of several peroxisomal functions and enzymes (plasmalogen synthesis, phytanic a...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/BF02532526

    authors： Hebestreit H,Wanders RJ,Schutgens RB,Espeel M,Kerckaert I,Roels F,Schmausser B,Schrod L,Marx A

    更新日期：1996-12-01 00:00:00

  • Frequency of coeliac disease in Hungarian children with type 1 diabetes mellitus.

    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

    authors： Arató A,Körner A,Veres G,Dezsöfi A,Ujpál I,Madácsy L

    更新日期：2003-01-01 00:00:00

  • Severe metformin intoxication with lactic acidosis in an adolescent.

    abstract：UNLABELLED:A 15-year-old healthy girl ingested 38.25 g (0.55 g/kg body weight) of metformin in a suicide attempt. Subsequently she developed lactic acidosis and moderate renal failure. An initial session of haemodialysis was able to treat the acidosis and reduce the toxic level of metformin. Nevertheless, a further inc...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-005-1634-y

    authors： Lacher M,Hermanns-Clausen M,Haeffner K,Brandis M,Pohl M

    更新日期：2005-06-01 00:00:00

  • The influence of mutations of enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency.

    abstract：:The phenylalanine hydroxylase (PAH) deficiency trait is heterogeneous with a continuum of metabolic phenotypes ranging from classical phenylketonuria (PKU) to mild hyperphenylalaninaemia (MHP). More than 200 mutations in the PAH gene are associated with PAH deficiency. From theoretical considerations or in vitro expre...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章,评审

    doi：10.1007/pl00014253

    authors： Güttler F,Guldberg P

    更新日期：1996-07-01 00:00:00

  • A child with acute pancreatitis and recurrent hypoglycemia due to 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

    abstract：:A five-year-old-girl with a history of recurrent hypoglycemia presented with acidosis, intractable vomiting, and abdominal tenderness; the diagnosis of acute pancreatitis was made by abdominal ultrasonography and supportive biochemical studies. Urinary organic acid analysis revealed metabolites suggestive of HMG-CoA l...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/BF00540255

    authors： Wilson WG,Cass MB,Søvik O,Gibson KM,Sweetman L

    更新日期：1984-09-01 00:00:00

  • Fibrodysplasia ossificans progressiva (FOP): watch the great toes!

    abstract：:Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder and the most disabling condition of heterotopic (extraskeletal) ossification in humans. Extraskeletal bone formation associated with inflammation preceding the osseous conversion usually begins in the first decade, predominantly in the head, neck, ...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-010-1232-5

    authors： Kartal-Kaess M,Shore EM,Xu M,Schwering L,Uhl M,Korinthenberg R,Niemeyer C,Kaplan FS,Lauten M

    更新日期：2010-11-01 00:00:00

  • Impact of sedentary behavior on large artery structure and function in children and adolescents: a systematic review.

    abstract：:Sedentary behavior contributes to increased atherosclerotic risk in adults. Whether or not this can be extended to pediatric populations is unclear. This systematic review assessed associations of sedentary behavior with large artery structure and function in pediatric populations. MEDLINE, EMBASE, CENTRAL, and Web of...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-019-03497-3

    authors： Königstein K,Klenk C,Appenzeller-Herzog C,Hinrichs T,Schmidt-Trucksäss A

    更新日期：2020-01-01 00:00:00

  • Bone marrow hypoplasia in anorexia nervosa.

    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

    authors： Lampert F,Lau B

    更新日期：1976-12-09 00:00:00

  • Changes in whole-body fat distribution, intrahepatic lipids, and insulin resistance of obese adolescents during a low-level lifestyle intervention.

    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

    authors： Springer F,Ballweg V,Schweizer R,Schick F,Ranke MB,Binder G,Ehehalt S,DISKUS Study Group.

    更新日期：2015-12-01 00:00:00

  • Formula feeding increases the risk of antibiotic prescriptions in children up to 2 years: results from a cohort study.

    abstract：:Association between the use of infant formula and risks for infants' health is seldom studied in western countries. We set up a historical cohort based on record linkage analysis, combining the data from administrative databases providing individual data. Infants receiving the second dose of pediatric immunization bet...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-019-03462-0

    authors： Di Mario S,Gagliotti C,Donatini A,Battaglia S,Buttazzi R,Balduzzi S,Borsari S,Basevi V,Barbieri L,and the Regional breastfeeding monitoring group.

    更新日期：2019-12-01 00:00:00

  • Meal-induced thermogenesis in obese children with or without familial history of obesity.

    abstract：:Resting metabolic rate (RMR) and the thermic effect of a meal (TEM) were measured in a group of 26 prepubertal children divided into three groups: (1) children with both parents obese (n = 8, group OB2); (2) children with no obese parents and without familial history of obesity (n = 8, OB0); and (3) normal body weight...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/BF02072489

    authors： Maffeis C,Schutz Y,Zoccante L,Pinelli L

    更新日期：1993-02-01 00:00:00

  • Demography of adolescent health care delivery and training in Europe.

    abstract：BACKGROUND:We aimed to determine the status of and factors associated with adolescent health care delivery and training in Europe on behalf of the European Paediatric Association-UNEPSA. MATERIALS AND METHODS:A questionnaire was mailed to the presidents of 48 national paediatric societies in Europe. For statistical an...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-008-0759-1

    authors： Ercan O,Alikasifoglu M,Erginoz E,Janda J,Kabicek P,Rubino A,Constantopoulos A,Ilter O,Vural M

    更新日期：2009-04-01 00:00:00

  • Local therapy of rhabdomyosarcoma, osteosarcoma and Ewing's sarcoma of children and adolescents.

    abstract：:Local control of the primary tumour is a fundamental requirement for clinical cure. Towards this aim, the primary tumour must be diagnosed early and identified histologically. The size, extension, and spread within the patient must be defined precisely. In planning effective local therapy, additional questions must be...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/BF00451896

    authors： Prindull G,Willert HG,Notter G

    更新日期：1985-07-01 00:00:00

  • Obstructive endocarditis in an immunodeficient infant.

    abstract：:We report the case of 5-week-old male infant who presented as a 'near miss cot death'. He had the immunodeficient syndrome of defective neutrophil mobility and delayed umbilical cord separation. He was shown to have staphylococcal endocarditis with a large vegetation on the mitral valve, and acute obstruction of the m...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/BF02429063

    authors： Walters MD,Deanfield JE,Robinson PJ,Matthew DJ

    更新日期：1986-12-01 00:00:00

  • Respiratory and arousal responses to hypoxia in apnoeic infants reinvestigated.

    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

    authors： Milerad J,Hertzberg T,Wennergren G,Lagercrantz H

    更新日期：1989-04-01 00:00:00

  • Chronic granulomatous disease of childhood: gastric manifestation and response to salazosulfapyridine therapy.

    abstract：:The case history of a 10-year-old boy with chronic granulomatous disease (CGD) and gastric obstruction is presented. First abdominal symptoms occurred at 4 years of age when antral narrowing was detected. Due to unresponsiveness to antibiotic and steroid treatment, salazosulfapyridine therapy was initiated. Objective ...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/BF02024330

    authors： Stopyrowa J,Fyderek K,Sikorska B,Kowalczyk D,Zembala M

    更新日期：1989-10-01 00:00:00

  • Aetiological diagnosis of male sex ambiguity: a collaborative study.

    abstract：UNLABELLED:A collaborative study, supported by the Biomed2 Programme of the European Community, was initiated to optimise the aetiological diagnosis in genetic or gonadal males with intersex disorders, a total of 67 patients with external sexual ambiguity, testicular tissue and/or a XY karyotype. In patients with gonad...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章,多中心研究,评审

    doi：10.1007/s00431-001-0854-z

    authors： Morel Y,Rey R,Teinturier C,Nicolino M,Michel-Calemard L,Mowszowicz I,Jaubert F,Fellous M,Chaussain JL,Chatelain P,David M,Nihoul-Fékété C,Forest MG,Josso N

    更新日期：2002-01-01 00:00:00

  • The prevalence of GB virus C/hepatitis G virus RNA among healthy and HCV-infected Catalan children.

    abstract：:GB virus C (GBV-C) is a blood-borne flavivirus. The prevalence of GBV-C viremia among healthy adults is 0.5% to 4% and, to date, no disease has been definitely associated with GBV-C infection. We conducted a cross-sectional study to evaluate GBV-C viremia prevalence in a group of 327 healthy children with normal alani...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-007-0624-7

    authors： Claret G,Noguera A,González-Cuevas A,García-García JJ,Fortuny C,Muñoz-Almagro C

    更新日期：2008-09-01 00:00:00

  • Antibiotic susceptibility of acute otitis media pathogens in otitis-prone Belgian children.

    abstract：UNLABELLED:A regional surveillance study was carried out in children with recurrent acute otitis media (AOM) to determine the antimicrobial susceptibility of three common AOM pathogens. Susceptibility to relevant antimicrobial agents was determined on 149 Streptococcus pneumoniae, 246 Haemophilus influenzae and 119 Mor...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-004-1475-0

    authors： van Kempen MJ,Vaneechoutte M,Claeys G,Verschraegen GL,Vermeiren J,Dhooge IJ

    更新日期：2004-09-01 00:00:00

  • Absence epilepsy of early childhood--genetic aspects.

    abstract：:Clinical and EEG family data of 140 cases with early childhood epilepsy with absences are presented. The aim of the study was to evaluate, whether the occurrence of generalized tonic clonic seizures (GTCS) as a presenting symptom might correlate with family data, i.e. whether there are indications of heterogeneity. On...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/BF01956423

    authors： Doose H

    更新日期：1994-05-01 00:00:00

  • Elastase alpha 1 proteinase inhibitor complex, granulocyte count, ratio of immature to total granulocyte count, and C-reactive protein in neonatal septicaemia.

    abstract：:In a prospective study elastase alpha 1-proteinase inhibitor (E alpha 1PI), polymorphonuclear (PMN) count, the immature to total neutrophil count ratio (I/T ratio), and C-reactive protein (CRP) were analysed in 74 patients (76 cases) with neonatal septicaemia at the time of initial clinical symptoms. At that early sta...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/BF02113257

    authors： Tegtmeyer FK,Horn C,Richter A,van Wees J

    更新日期：1992-05-01 00:00:00

  • Significance of serum lipoprotein-X and gammaglutamyltranspeptidase in the diagnosis of biliary atresia. A preliminary study in 27 cholestatic young infants.

    abstract：:As simple and nonsurgical means of differentiating biliary atresia (BA) from intrahepatic cholestasis of unknown origin (IC), liver function tests including serum lipoprotein-X (LP-X) and gamma-glutamyltranspeptidase (GGTP) were done and evaluated for their usefulness in the diagnosis of 27 cholestatic Japanese young ...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/BF00441853

    authors： Tazawa Y,Yamada M,Nakagawa M,Tada K,Konno T,Ohi R,Kasai M

    更新日期：1986-04-01 00:00:00