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 lyase deficiency, and subsequent enzyme assays of lymphocytes and fibroblasts confirmed this diagnosis. Acute pancreatitis, an uncommon condition in childhood, is seen with increased frequency in patients with Reye syndrome, a metabolic disorder with which HMG-CoA lyase deficiency may be confused. The pathogenesis of pancreatitis in Reye syndrome or in HMG-CoA lyase deficiency has not been determined.

journal_name

Eur J Pediatr

authors

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

doi

10.1007/BF00540255

subject

Has Abstract

pub_date

1984-09-01 00:00:00

pages

289-91

issue

4

eissn

0340-6199

issn

1432-1076

journal_volume

142

pub_type

杂志文章
  • Costs of vitamin D testing and prescribing among children in primary care.

    abstract::Vitamin D has attracted considerable interest in recent years, with a marked increase in diagnosis of vitamin D deficiency seen among children in clinical practice in the UK. The economic implications of this change in diagnostic behaviour have not been explored. We performed a cohort study to examine longitudinal tre...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-017-2986-9

    authors: Basatemur E,Hunter R,Horsfall L,Sutcliffe A,Rait G

    更新日期:2017-10-01 00:00:00

  • Cytokines in chronic lung disease of prematurity.

    abstract::Chronic lung disease of prematurity (CLD) is a common respiratory disorder of preterm infants. At autopsy, fibroblast proliferation, and components of the extracellular matrix, including collagen and fibronectin, are markedly increased in the lungs of infants who die from CLD. Examination of broncho-alveolar fluid sug...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章,评审

    doi:10.1007/BF01958074

    authors: Kotecha S

    更新日期:1996-08-01 00:00:00

  • Laryngoscope burn risk in neonatal intubation.

    abstract:LARYNGOSCOPE BURNS IN NEONATAL INTUBATION:Following burns during neonatal intubation, we mounted an in vitro study of laryngoscopes to determine the temperatures reached during clinical use. The temperature of 10 different bulb laryngoscopes heads and two fibre optic heads were measured with a thermocouple, once opened...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-019-03381-0

    authors: Ryan E,O Neill P,Brabazon D,Murphy JFA

    更新日期:2019-07-01 00:00:00

  • Hypertension associated with skeletal traction in children.

    abstract::Since traction-associated hypertension seems to be a relatively unknown phenomenon, a survey was done of its incidence in children treated with skeletal traction for fractures and orthopaedic diseases. The correlation with hypercalcaemia, a possible aetiological factor, was also explored. Blood pressure was recorded t...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF01957765

    authors: Heij HA,Ekkelkamp S,Vos A

    更新日期:1992-07-01 00:00:00

  • Interchangeability of a hepatitis A vaccine second dose: Avaxim 80 following a first dose of Vaqta 25 or Havrix 720 in children in Turkey.

    abstract:INTRODUCTION:This randomised, observer-blind clinical trial conducted in Turkey evaluated the immunogenicity, safety and interchangeability of three paediatric inactivated hepatitis A vaccines in 424 seronegative children between 1 and 15 years of age. METHODS:Potential subjects were screened for anti-hepatitis A viru...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章,随机对照试验

    doi:10.1007/s00431-007-0432-0

    authors: Soysal A,Gokçe I,Pehlivan T,Bakir M

    更新日期:2007-06-01 00:00:00

  • Television watching at Greek paediatric hospitals.

    abstract:PURPOSE:The study investigated the television watching habits of children in hospital compared with those at home and the factors which influence them. METHODS:A random sample of 546 school aged children hospitalized in paediatric hospitals (2) in Athens (Greece) was studied. RESULTS:Children's television watching ti...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-006-0166-4

    authors: Matziou V,Zachos I,Kletsiou H,Triantafyllidou A,Tsoumakas C

    更新日期:2006-11-01 00:00:00

  • Prevalence and outcome of intracranial haemorrhage in haemophiliacs--a survey of the paediatric group of the German Society of Thrombosis and Haemostasis (GTH).

    abstract:UNLABELLED:A survey among centres of the paediatric group of the GTH was performed to evaluate the prevalence and outcome of haemophiliacs with intracerebral haemorrhage. A questionnaire sent to the centres covered the following points: number of patients with severe, moderate and mild haemophilia A and B; for each pat...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章,多中心研究

    doi:10.1007/pl00014346

    authors: Klinge J,Auberger K,Auerswald G,Brackmann HH,Mauz-Körholz C,Kreuz W

    更新日期:1999-12-01 00:00:00

  • 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 ma...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF02282890

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

    更新日期:1996-11-01 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

  • Disseminated cat-scratch disease: detection of Rochalimaea henselae in affected tissue.

    abstract::An immunocompetent 9-year-old boy with disseminated cat scratch disease involving spleen, cervical and abdominal lymph nodes, skull, and one clavicle is reported. Antibodies to Rochalimaea quintana and R. henselae were detected, at increasing, then decreasing concentration. DNA extracted from the biopsied skull lesion...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:

    authors: Waldvogel K,Regnery RL,Anderson BE,Caduff R,Caduff J,Nadal D

    更新日期:1994-01-01 00:00:00

  • Flow cytometric immunophenotyping in the diagnosis and follow-up of immunodeficient children.

    abstract::From time to time, paediatricians are confronted with children who might suffer from a primary immunodeficiency disease. For practical purposes, these children can be divided into four main clinical categories: (1) a relatively large group of children with recurrent ear-nose and throat and lower respiratory tract infe...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章,评审

    doi:10.1007/s004310100797

    authors: de Vries E,Noordzij JG,Kuijpers TW,van Dongen JJ

    更新日期:2001-10-01 00:00:00

  • Human leucocyte class I and II antigens in coeliac disease: a study in an Austrian paediatric population.

    abstract::Regional variations in the human leucocyte antigen (HLA) distribution patterns of coeliac disease (CD) have been reported. This study focuses on phenotype frequencies of a cohort of Austrian paediatric CD patients in comparison with those recorded in the literature. HLA class I and II typing was performed in 136 CD pa...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF01958759

    authors: Winklhofer-Roob BM,Rossipal E,Lanzer G

    更新日期:1991-08-01 00:00:00

  • Odd-numbered long-chain fatty acids in propionic acidaemia.

    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

    authors: Sperl W,Murr C,Skladal D,Sass JO,Suormala T,Baumgartner R,Wendel U

    更新日期:2000-01-01 00:00:00

  • Management of neurogenic bladder dysfunction secondary to myelomeningocele.

    abstract::We investigated 55 children, aged from 24 months to 14 years with neurogenic bladder dysfunction secondary to myelomeningocele, by serial urodynamic. They were serially evaluation over 2-5 years. Management consisted of drug therapy together with intermittent vesical catheterization in different combinations on the ba...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF01959484

    authors: Castro-Gago M,Novo I,Cimadevila A,Peña J,Rodriguez-Núñez A,Marqués'-Queimadelos A

    更新日期:1990-11-01 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

  • Beta-haemolytic non-group A streptococci and pharyngitis: a case-control study.

    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

    authors: Cimolai N,Morrison BJ,MacCulloch L,Smith DF,Hlady J

    更新日期:1991-09-01 00:00:00

  • Comparison of the bronchodilating effect of oxitropium bromide and fenoterol in asthmatic children.

    abstract::Using a randomized double blind study design, the bronchodilating effect of 200 micrograms inhaled oxitropium bromide (OB) was compared with 200 micrograms inhaled fenoterol (F) after an interval of 20 min, in 20 asthmatic children aged 12.7 years (range: 4.9-15.1 years), suffering from mild bronchoconstriction (mean ...

    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/BF02190670

    authors: Van Bever HP,Desager KN,Pauwels JH,Vermeire PA

    更新日期:1994-08-01 00:00:00

  • Epinephrine versus dopamine in neonatal septic shock: a double-blind randomized controlled trial.

    abstract::We compared epinephrine and dopamine as a first-line vasoactive drug in 40 neonates (enrolled in two gestational age strata ≤ 306/7 and ≥ 310/7 weeks) with fluid-refractory septic shock. Epinephrine or dopamine was initiated at 0.2 or 10 μg/kg/min, respectively. If shock persisted after 15 min, epinephrine or dopamine...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章,随机对照试验

    doi:10.1007/s00431-018-3195-x

    authors: Baske K,Saini SS,Dutta S,Sundaram V

    更新日期:2018-09-01 00:00:00

  • Effects of laryngoscopy and tracheal intubation on cerebral and systemic haemodynamics in children under different protocols of anaesthesia.

    abstract::The effects of laryngoscopy and tracheal intubation on cerebral and systemic haemodynamics were studied in 30 children. The objective was to identify conditions in which the alterations of cerebral and systemic haemodynamics were minimal. The children were intubated after muscular relaxation and following 10 min of me...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF01957527

    authors: Bode H,Ummenhofer W,Frei F

    更新日期:1993-11-01 00:00:00

  • Chronicity rate of hepatitis B virus infection in the families of 60 hepatitis B surface antigen positive chronic carrier children: role of horizontal transmission.

    abstract::It is known that the 5%-10% of adults infected with hepatitis B virus (HBV) develop a chronic infection and that HBV infection acquired at birth by an hepatitis B surface antigen (HBsAg)/hepatitis B "e" antigen (HBeAg)-positive mother almost invariably leads to chronic infection. Little information is, however, availa...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF01954381

    authors: Vegnente A,Iorio R,Guida S,Cimmino L

    更新日期:1992-03-01 00:00:00

  • Efficiency of heparin in the treatment of newborn infants with respiratory distress syndrome and disseminated intravascular coagulation.

    abstract::Forty newborns with severe shock and disseminated intravascular coagulation were randomized for treatment with heparin or placebo. Mortality was equal in both groups. The heparin group required significantly shorter periods of artificial ventilation. The coagulation system improved faster, and the coagulation pattern ...

    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/BF00444754

    authors: Göbel U,von Voss H,Jürgens H,Petrich C,Pothmann R,Sprock I,Lemburg P

    更新日期:1980-01-01 00:00:00

  • Novel CYP11B2 mutation causing aldosterone synthase (P450c11AS) deficiency.

    abstract:UNLABELLED:Aldosterone synthase (P450c11AS) deficiency is a rare autosomal recessive disorder, presenting with severe salt-losing in early infancy. It is caused by inactivating mutations of the CYP11B2 gene. Here, we describe three unrelated Asian patients who have clinical and hormonal features compatible with aldoste...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-012-1792-7

    authors: Klomchan T,Supornsilchai V,Wacharasindhu S,Shotelersuk V,Sahakitrungruang T

    更新日期:2012-10-01 00:00:00

  • Molybdenum cofactor deficiency in two siblings: diagnostic difficulties.

    abstract::Two siblings with molybdenum cofactor deficiency are presented. They showed clinical, biochemical and neuroradiological features very similar to those of the few previously described cases. Difficulties in diagnosis are emphasised. ...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF01955243

    authors: Hansen LK,Wulff K,Dorche C,Christensen E

    更新日期:1993-08-01 00:00:00

  • Myocardial performance in children with autoimmune hepatitis: Doppler tissue imaging study.

    abstract::Autoimmune hepatitis (AIH) is a member of autoimmune diseases family which can increase risk of cardiovascular morbidity and mortality. This study aimed to assess subclinical impact of AIH on global myocardial performance in affected children using Doppler tissue imaging (DTI) and to correlate it with total serum immu...

    journal_title:European journal of pediatrics

    pub_type: 临床试验,杂志文章

    doi:10.1007/s00431-013-2073-9

    authors: Abo-Haded HM,Barakat TS,Hafez MM

    更新日期:2013-11-01 00:00:00

  • Henoch-Schonlein purpura presenting duodenal involvement similar to superior mesenteric artery syndrome in a girl.

    abstract::Henoch-Schonlein purpura (HSP) is an inflammatory vasculitis involving the skin, joints, gastrointestinal (GI) tract, and kidneys. This is the first case report describing a 5-year-old girl with HSP presenting duodenal involvement which might be associated with superior mesenteric artery syndrome (SMAS). ...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-006-0254-5

    authors: Harada T,Machida H,Ito S,Aihara Y,Yokota S

    更新日期:2007-05-01 00:00:00

  • Benign papilloma of the cervix in childhood: immunohistochemical findings and review of the literature.

    abstract:UNLABELLED:Papillomas of the genital region are rare benign tumours causing sanguineous vaginal discharge in prepubertal girls. We report on a papilloma of the cervix in a 2-year-old girl. We characterize the tumour immunohistochemically and give a brief review about the current literature. CONCLUSION:Genital tract pa...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章,评审

    doi:10.1007/s004310050609

    authors: Schmedding A,Zense M,Fuchs J,Glüer S

    更新日期:1997-04-01 00:00:00

  • Vitamin B12 deficiency in a 9-month-old boy.

    abstract:UNLABELLED:We present a 9-month-old boy with megaloblastic anaemia, neutropenia and hypogammaglobulinaemia due to vitamin B12 deficiency. The deficiency was secondary to prolonged exclusive breastfeeding with inadequate nutritional amounts of vitamin B12 from the mother. There were no clinical or biological signs of ma...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-011-1577-4

    authors: Quentin C,Huybrechts S,Rozen L,De Laet C,Demulder A,Ferster A

    更新日期:2012-01-01 00:00:00

  • Final height and puberty in 40 patients after antileukaemic treatment during childhood.

    abstract:UNLABELLED:Endocrine dysfunction and damage of the epiphysial growth plates have been reported as late effects of antileukaemic treatment during childhood. It is a common opinion that cranial irradiation (CI) is the most important factor for blunted growth. Accordingly, recent therapeutic strategies in acute lymphoblas...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s004310050599

    authors: Mohnike K,Dörffel W,Timme J,Kluba U,Aumann V,Vorwerk P,Mittler U

    更新日期:1997-04-01 00:00:00

  • Changes in serum lipid and lipoprotein concentrations and compositions at birth and after 1 month of life in macrosomic infants of insulin-dependent diabetic mothers.

    abstract::The aim of this study was to determine whether macrosomia related to maternal diabetes alters lipoprotein metabolism and whether these abnormalities still persist or regress after 1 month of life. Serum lipoprotein compositions and concentrations as well as serum lipid fatty acid compositions were investigated in macr...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s004310051194

    authors: Merzouk H,Madani S,Prost J,Loukidi B,Meghelli-Bouchenak M,Belleville J

    更新日期:1999-09-01 00:00:00

  • Correction to: Cost-effectiveness of rule-based immunoprophylaxis against respiratory syncytial virus infections in preterm infants.

    abstract::The name of the co-author Wendy J. Ungar was inadvertently omitted on the original published article. Her name and affiliation have now been added to the author list. ...

    journal_title:European journal of pediatrics

    pub_type: 已发布勘误

    doi:10.1007/s00431-019-03526-1

    authors: Blanken MO,Frederix GW,Ungar WJ,Nibbelke EE,Koffijberg H,Sanders EAM,Rovers MM,Bont L,Dutch RSV Neonatal Network.

    更新日期:2020-02-01 00:00:00