当前位置： SCI文献检索 > EUROPEAN JOURNAL OF PEDIATRICS期刊下所有文献 > Congenital central hypoventilation syndrome (Ondine's curse syndrome) in two siblings: delayed diagnosis and successful noninvasive treatment.

Congenital central hypoventilation syndrome (Ondine's curse syndrome) in two siblings: delayed diagnosis and successful noninvasive treatment.

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 male siblings. Diagnosis was established only at the age of 4 years in the first case, although the patient had disease related symptoms since early infancy. The second patient was one of dizygotic twins, he was diagnosed with CCHS at the age of 8 months. Up to that age only moderate desaturations had been observed. The other twin was unaffected by the disease. Both patients were successfully treated by nocturnal positive-pressure ventilation via a specially adapted face mask. They show satisfactory physical and neurologic development. CONCLUSION:Our cases support the assumption of familiality in CCHS although the mode of inheritance remains to be clarified. Polygraphic recordings including capnography should be performed in siblings of CCHS patients early in life in order to avoid secondary complications. Noninvasive treatment by ventilation via special face masks is feasible.

journal_name

Eur J Pediatr

journal_title

European journal of pediatrics

authors

Kerbl R,Litscher H,Grubbauer HM,Reiterer F,Zobel G,Trop M,Urlesberger B,Eber E,Kurz R

doi

10.1007/BF02282890

subject

Has Abstract

pub_date

1996-11-01 00:00:00

pages

977-80

issue

11

eissn

0340-6199

issn

1432-1076

journal_volume

155

pub_type

杂志文章

相关文献

EUROPEAN JOURNAL OF PEDIATRICS文献大全
  • Staphylococcus aureus septicaemia in a patient with cystic fibrosis.

    abstract：UNLABELLED:Although bacterial colonisation of bronchi may occur from early childhood onwards, infections extending beyond the lungs are uncommon in patients with cystic fibrosis. A 12-year-old boy with cystic fibrosis, receiving oral corticosteroids for 3 weeks because of allergic bronchopulmonary aspergillosis, experi...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/pl00008408

    authors： Aebischer CC,Aebi C,Schöni MH

    更新日期：2000-09-01 00:00:00

  • Severe tick-borne encephalitis following passive immunization.

    abstract：UNLABELLED:We report on a 5-year-old girl with an unusually severe course of tick-borne encephalitis following passive immunization with specific hyperimmune globulin after a tick bite in an endemic area. Serial investigations of the CSF revealed intrathecal production of specific antibodies paralleled by increasing nu...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/BF02002905

    authors： Waldvogel K,Bossart W,Huisman T,Boltshauser E,Nadal D

    更新日期：1996-09-01 00:00:00

  • Etiology of primary ovarian insufficiency in a series young girls presenting at a pediatric endocrinology center.

    abstract：UNLABELLED:The cause of the primary ovarian insufficiency (POI) remains unknown in the majority of cases. A retrospective study was carried out in 17 girls with POI and normal 46,XX karyotype evaluated before 20 years of age. The etiology of POI was determined in eight girls (group 1) and remained idiopathic in nine gi...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-014-2457-5

    authors： Brauner R,Pierrepont S,Bignon-Topalovic J,McElreavey K,Bashamboo A

    更新日期：2015-06-01 00:00:00

  • Immunocytochemical detection of neuroblastoma cells infiltrating clinical bone marrow samples.

    abstract：:To evaluate the feasibility and clinical usefulness of immunocytochemical detection of bone marrow metastases in neuroblastoma, we studied bone marrow samples from patients undergoing intensive therapy, followed in the majority of cases by autologous bone marrow rescue. Two monoclonal antibodies were used in an indire...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/BF00442474

    authors： Beck D,Maritaz O,Gross N,Favrot M,Vultier N,Bailly C,Villa I,Gentilhomme O,Philip T

    更新日期：1988-08-01 00:00:00

  • Successful treatment of metastatic βHCG-secreting germ cell tumor occurring 3 years after total resection of a pineal mature teratoma.

    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

    authors： Cardellicchio S,Farina S,Buccoliero AM,Agresti B,Genitori L,de Martino M,Fangusaro J,Sardi I

    更新日期：2014-08-01 00:00:00

  • Bone status of young adults with periodic avoidance of dairy products since childhood.

    abstract：:Proper nutrition throughout childhood and adolescence is crucial for normal bone development. We investigated whether adherence to Christian Orthodox Church fasting is characterized by periodic avoidance of animal foods (including dairy products), since childhood affects stature or bone health in young adults. This cr...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-019-03542-1

    authors： Rodopaios NE,Mougios V,Koulouri AA,Vasara E,Papadopoulou SK,Skepastianos P,Dermitzakis E,Hassapidou M,Kafatos AG

    更新日期：2020-04-01 00:00:00

  • Adolescents with congenital heart disease: their opinions about the preparation for transfer to adult care.

    abstract：:The aim of the study was to explore what adolescents with congenital heart disease (CHD) view as important in the preparation for the transfer to adult care. We performed interviews in four focus groups with adolescents (14-18 years old) at four university hospitals in Sweden. Data was analysed using qualitative conte...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-017-2917-9

    authors： Burström Å,Bratt EL,Frenckner B,Nisell M,Hanséus K,Rydberg A,Öjmyr-Joelsson M

    更新日期：2017-07-01 00:00:00

  • Hypoketosis as a cause of symptoms in childhood hypoglycemia.

    abstract：:Children with symptomatic hypoglycemia and asymptomatic hypoglycemia-prone children were shown to differ in the degree of ketosis after a 20 h fast. In the latter children the close negative correlation between ketone body levels and glucose levels yielded a regression line against which the former children's data cou...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/BF00442403

    authors： Teijema HL,van Gelderen HH,Giesberts MA

    更新日期：1980-06-01 00:00:00

  • Lymphocytic hypophysitis presenting with diabetes insipidus in a 14-year-old girl: case report and review of the literature.

    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

    authors： Cemeroglu AP,Blaivas M,Muraszko KM,Robertson PL,Vázquez DM

    更新日期：1997-09-01 00:00:00

  • Childhood obesity is associated with maternal smoking in pregnancy.

    abstract：UNLABELLED:Overweight and obesity are major public health issues. Childhood obesity often persists throughout adulthood. Recently a higher prevalence of obesity in adults whose mothers smoked during pregnancy was reported. The aim of this study was to assess whether this association is also detectable in pre-school chi...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-002-0983-z

    authors： Toschke AM,Koletzko B,Slikker W Jr,Hermann M,von Kries R

    更新日期：2002-08-01 00:00:00

  • Population clinical pharmacology of children: general principles.

    abstract：INTRODUCTION:Population modelling using mixed-effects models provides a means to study variability in drug responses among individuals representative of those for whom the drug will be used clinically. DISCUSSION:The advantages of these models in paediatric studies are that they can be used to analyse sparse data, sam...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章,评审

    doi：10.1007/s00431-006-0188-y

    authors： Anderson BJ,Allegaert K,Holford NH

    更新日期：2006-11-01 00:00:00

  • Osteoporosis-pseudoglioma syndrome: clinical, genetic, and treatment-response study of 10 new cases in Greece.

    abstract：:Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal-recessive disorder, characterized by severe osteoporosis and early-onset blindness. Loss of function mutations in the gene encoding low-density lipoprotein receptor-related protein 5 (LRP5) have been established as the genetic defect of the disease. We repo...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-018-3299-3

    authors： Papadopoulos I,Bountouvi E,Attilakos A,Gole E,Dinopoulos A,Peppa M,Nikolaidou P,Papadopoulou A

    更新日期：2019-03-01 00:00:00

  • Beyond pancreatic insufficiency and liver disease in cystic fibrosis.

    abstract：UNLABELLED:Cystic fibrosis is a life shortening hereditary disease, primarily leading to progressive pulmonary infection and exocrine pancreatic dysfunction. Several gastrointestinal complications other than malabsorption can arise during the disease course and with the progressively increasing life span of patients wi...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章,评审

    doi：10.1007/s00431-016-2719-5

    authors： Demeyer S,De Boeck K,Witters P,Cosaert K

    更新日期：2016-07-01 00:00:00

  • Trichothiodystrophy without photosensitivity. Biochemical, ultrastructural and DNA repair studies.

    abstract：:A case of trichothiodystrophy (TTD) without photosensitivity is reported in an 8-year-old girl. Electron microscopic (EM) examination of the keratinocytes showed fibrillary bundles in the cytoplasm thinner and less electron dense than those of the normal cells and large membrane-bound vacuoles filled with granular-fil...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/BF00496431

    authors： Fois A,Balestri P,Calvieri S,Zampetti M,Giustini S,Stefanini M,Lagomarsini P

    更新日期：1988-05-01 00:00:00

  • Discolored leg syndrome after vaccination--descriptive epidemiology.

    abstract：:Discoloration of the leg following vaccination is a relatively unknown entity. We carried out a study of discolored leg syndrome (DLS) during a 10-year consecutive period with the objective of characterizing DLS in infants following vaccination received in the Dutch National Vaccination Program as well as its occurren...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-008-0707-0

    authors： Kemmeren JM,Vermeer-de Bondt PE,van der Maas NA

    更新日期：2009-01-01 00:00:00

  • Pulmonary involvement in Niemann-Pick C type 1.

    abstract：:Niemann-Pick disease type C (NPC) is a lysosomal storage disorder caused by mutations in either NPC-1 or NPC-2 genes, resulting in abnormal intracellular cholesterol trafficking. The estimated prevalence of NPC disease is 1: 120,000-150,000. Lung involvement has been described in only few patients with NPC, mostly NPC...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-018-3219-6

    authors： Staretz-Chacham O,Aviram M,Morag I,Goldbart A,Hershkovitz E

    更新日期：2018-11-01 00:00:00

  • An innovative pedagogic course combining video and simulation to teach medical students about pediatric cardiopulmonary arrest: a prospective controlled study.

    abstract：UNLABELLED:Compliance by residents in pediatrics to pediatric resuscitation guidelines is low. In many French faculties, a 1-h traditional lecture is still used to educate medical students about pediatric cardiopulmonary arrest (CPA). We developed an innovative pedagogic course combining a 23-min video and 3-h simulati...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-016-2702-1

    authors： Drummond D,Arnaud C,Thouvenin G,Guedj R,Grimprel E,Duguet A,de Suremain N,Petit A

    更新日期：2016-06-01 00:00:00

  • Prospective cohort studies using hydrolysed formulas for allergy prevention in atopy-prone newborns: a systematic review.

    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

    authors： Schoetzau A,Gehring U,Wichmann HE

    更新日期：2001-06-01 00:00:00

  • Changes in red cell phosphate metabolism of preterm and fullterm infants with perinatal problems during their first month of life.

    abstract：:The effects of perinatal problems on red cell phosphate metabolism were studied in two groups of infants (preterms B and fullterms D) during the first month of life. All infants started milk feeding from day three after birth. The results were compared to those of healthy preterms (A) and fullterms (C), respectively. ...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-007-0464-5

    authors： Cholevas V,Challa A,Lapatsanis PD,Andronikou S

    更新日期：2008-02-01 00:00:00

  • Perlman and Wiedemann-Beckwith syndromes: two distinct conditions associated with Wilms' tumour.

    abstract：:Though children with Perlman and Wiedemann-Beckwith syndromes have a number of features in common, the two conditions are probably separate entities. The distinction may not always be easy, however, partly because of the extreme rarity of Perlman syndrome, only nine cases of which have been reported so far. We report ...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/BF01954125

    authors： Grundy RG,Pritchard J,Baraitser M,Risdon A,Robards M

    更新日期：1992-12-01 00:00:00

  • Evaluation of triggering systems for patient triggered ventilation for neonates ventilator-dependent beyond 10 days of age.

    abstract：:The performance of two triggering systems was compared during patient triggered ventilation (PTV) of infants ventilator-dependent beyond 10 days of age. Ten infants were studied who had a median gestational age of 26.5 weeks and a postnatal age of 15.5 days. PTV was administered via the SLE ventilator and the two trig...

    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/BF01957937

    authors： Chan V,Greenough A

    更新日期：1992-11-01 00:00:00

  • Serum lysozyme activity in children with acute leukemia.

    abstract：:Serum lysozyme activity was measured in samples from children with acute leukemia, malignant tumours, and in normal children. All children with acute lymphatic leukemia (ALL) had significantly reduced levels of lysozyme at diagnosis, and none of the children fell within the normal range. Children with ALL in complete ...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/BF00493542

    authors： Bratlid D,Moe PJ

    更新日期：1978-04-20 00:00:00

  • A case of perineal hypospadias with paracentric inversion of chromosome 14.

    abstract：:Abnormalities of chromosome 14 are encountered infrequently in clinical cytogenetics and only few studies of paracentric inversion have been published. This paper reports the first case of hypospadias associated with paracentric inversion of chromosome 14. ...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/BF00441748

    authors： Leung AK,Hoo JJ

    更新日期：1986-02-01 00:00:00

  • The painful hip: evaluation of criteria for clinical decision-making.

    abstract：UNLABELLED:Children with a painful hip present a diagnostic challenge since clinical differentiation between septic arthritis, transient synovitis and Perthes disease may be difficult. Septic arthritis, a potentially life-threatening and debilitating medical emergency, requires early recognition for successful treatmen...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s004310051243

    authors： Eich GF,Superti-Furga A,Umbricht FS,Willi UV

    更新日期：1999-11-01 00:00:00

  • Ethical and psychological aspects of living donorship and life with a donated organ.

    abstract：:There is far-reaching consent in the literature that public and consensual agreements on the basics of the different aspects of medical ethics are inalienable before the instigation of any innovative transplant procedure. In the case of a certain method and/or of an individual patient, however, the ultimate ethical ev...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/BF02125808

    authors： Wolff G

    更新日期：1992-01-01 00:00:00

  • Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline.

    abstract：UNLABELLED:Delta1-pyrroline-5-carboxylate synthase (P5CS) catalyses the reduction of glutamate to Delta1-pyrroline-5-carboxylate, a critical step in the biosynthesis of proline, ornithine and arginine. Recently, we reported a newly recognised inborn error due to deficiency of P5CS in two sibs, one presenting at birth w...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-004-1545-3

    authors： Baumgartner MR,Rabier D,Nassogne MC,Dufier JL,Padovani JP,Kamoun P,Valle D,Saudubray JM

    更新日期：2005-01-01 00:00:00

  • Overweight and obesity in European children and adolescents.

    abstract：:The conclusions of this mini-workshop are not substantially different from those previously published based on the USA experience [9]. This does not necessarily mean that there are no important differences between Europe and the USA, rather it reflects the paucity of data, especially in Europe. Moreover, European data...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章,评审

    doi：10.1007/pl00014362

    authors： Jebb SA,Lambert J

    更新日期：2000-09-01 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

  • The effect of systemic corticosteroids on the innate and adaptive immune system in children with steroid responsive nephrotic syndrome.

    abstract：UNLABELLED:The severity and duration of immunosuppression caused by corticosteroids (CSs) usage have not been extensively studied. We aimed to investigate the effects of CSs on the various compartments of immune system in relation to timing of initiation and persistence of therapy. Pediatric patients with idiopathic ne...

    journal_title：European journal of pediatrics

    pub_type： 临床试验,杂志文章

    doi：10.1007/s00431-016-2694-x

    authors： Baris HE,Baris S,Karakoc-Aydiner E,Gokce I,Yildiz N,Cicekkoku D,Ogulur I,Ozen A,Alpay H,Barlan I

    更新日期：2016-05-01 00:00:00

  • Carcinoid and mucoepidermoid bronchial tumours in children.

    abstract：UNLABELLED:The aim of the study was to determine the characteristic features and outcome of carcinoid or mucoepidermoid tumours in children. A retrospective analysis of all patients treated for a carcinoid or mucoepidermoid tumour in France between 1984 and 2001 was performed. There were 11 cases of carcinoid tumour an...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-005-1740-x

    authors： Fauroux B,Aynie V,Larroquet M,Boccon-Gibod L,Ducou le Pointe H,Tamalet A,Clément A

    更新日期：2005-12-01 00:00:00