[Peritoneal dialysis in a neonate with maple syrup urine disease. A case report].

Abstract:

:Maple syrup disease is an autosomal recessive entity caused by a congenital error in the metabolism of three essential branchedchain amino acids: valine, leucine and isoleucine. The neonatal form of this disease is expressed by a severe and progressive neurological compromise, associated with a peculiar smell of urine, a consequence of the elimination of the excess of these amino acids. This smell of burnt sugar mimics the molasses obtained from maples, which gives its name to this disease. The best method to eliminate these toxins is hemodiafiltration, but in centers where this practice is not possible, peritoneal dialysis is an alternative. We present a newborn with leukinosis with severe central nervous system involvement in whom peritoneal dialysis was useful to overcome metabolic decompensation. :La enfermedad de jarabe de arce es una entidad autosómica recesiva producida por un error congénito en el metabolismo de tres aminoácidos esenciales de cadena ramificada: valina, leucina e isoleucina. La forma neonatal de esta enfermedad se manifiesta por un cuadro de compromiso neurológico grave y progresivo, asociado a un olor peculiar de la orina, consecuencia de la eliminación del exceso de estos aminoácidos. Este olor a azúcar quemada remeda a la melaza obtenida de los arces, lo que da nombre a esta enfermedad. El mejor método para eliminar estos tóxicos es la hemodiafiltración, pero, en los centros en los que esta práctica no es posible, la diálisis peritoneal constituye una alternativa. Se presenta a un recién nacido con leucinosis, con compromiso grave del sistema nervioso central, en quien la diálisis peritoneal fue de utilidad para superar la descompensación metabólica.

journal_name

Arch Argent Pediatr

authors

Ramírez F,Mato I,Barboza A,Cejas Bestard N

doi

10.5546/aap.2020.e178

subject

Has Abstract

pub_date

2020-04-01 00:00:00

pages

e178-e182

issue

2

eissn

0325-0075

issn

1668-3501

journal_volume

118

pub_type

杂志文章
  • [Osteoporosis-pseudoglioma Syndrome: a pediatric case of primary osteoporosis].

    abstract::Osteoporosis should be considered in children with severe chronic diseases or in association with some genetic diseases that bear an increased risk of bone fragility. Primary osteoporosis is an entity in which emerging aetiologies are being recognized. Its association with congenital retinal folds should guide the dia...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章

    doi:10.5546/aap.2020.e300

    authors: Braslavsky D,Scaglia P,Sanguineti N,Aza-Carmona M,Nevado Blanco J,Lapunzina Badia PD,Fernández MDC,Ruiz O,Carmona A,Szlago M,Arberas C,Cassinelli H,Heath K,Rey R,Bergadá I

    更新日期:2020-06-01 00:00:00

  • [CHARGE syndrome].

    abstract::The characteristic phenotype of CHARGE syndrome includes: coloboma, congenital heart defect, choanal atresia, retarded growth and development, genital abnormalities, ear anomalies with or without hearing loss, which give the name (an acronym) to this condition. The molecular cause in 60% of the cases are mutations in ...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章

    doi:10.1590/S0325-00752010000100016

    authors: Lobete Prieto CJ,Llano Rivas I,Fernández Toral J,Madero Barrajón P

    更新日期:2010-02-01 00:00:00

  • Bedsharing at home, breastfeeding and sudden infant death.Recommendations for health professionals

    abstract::The Sudden and Unexpected Infant Death Task Force together with the Subcommittee on Breastfeeding of the Sociedad Argentina de Pediatría have issued updated recommendations on bedsharing with the parents, a practice which remains controversial. Sleeping with the mother maximizes breastfeeding, which is protective agai...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章,实务指引

    doi:10.5546/aap.2017.s105

    authors: Subcomisión de Lactancia Materna.,Grupo de Trabajo de Muerte Súbita e Inesperada del Lactante.,Jenik A,Conti R

    更新日期:2017-10-01 00:00:00

  • Effects of age of diagnosis and dietary compliance on growth parameters of patients with celiac disease.

    abstract:INTRODUCTION:The objective of this study was to evaluate the relation between age at diagnosis and compliance to gluten free diet (GFD) on growth in children with celiac disease and the factors that influenced compliance to GFD. POPULATION AND METHODS:Celiac disease (CD) patients with villous atrophy followed in our h...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章

    doi:10.5546/aap.2018.eng.248

    authors: Comba A,Çaltepe G,Yüce Ö,Erena E,Kalaycı AG

    更新日期:2018-08-01 00:00:00

  • [Prevalence and characteristics of the vesicoureteral reflux in infants who suffered neonatal urinary tract infection].

    abstract:INTRODUCTION:The risk of developing renal scars is higher in the first years of life, mostly when the patient has vesicoureteral reflux, for that reason is necessary to identify this reflux as early as possible. Our aim was to determine the prevalence and characteristic of presentation of vesicoureteral reflux in infan...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章

    doi:10.1590/S0325-00752009000400010

    authors: Alvarez MD,Batista BA,Córdova RP,Arias MI,Marrero BD

    更新日期:2009-08-01 00:00:00

  • [Cervical Castleman's disease. Pediatric case report].

    abstract::Castleman's disease (CD) is a rare entity, characterized by lymph node follicles hyperplasia. It rarely occurs in children. We present a case of a 9 year old girl with CD in the parotid region. This disease, although it's low incidence in pediatric population, may mimic a malignant neoplasm and should be a differentia...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章

    doi:10.1590/S0325-00752013000400016

    authors: Udaquiola JE,Liberto DH,Kreindel TG,García Rivello H,Lobos PA

    更新日期:2013-07-01 00:00:00

  • Prevalence of deaf people who have a professional Argentine Sign Language interpreter during their children's medical consultations.

    abstract:INTRODUCTION:In Argentina, hearing disability accounts for 18% of disabilities. Argentine Sign Language (ASL) is the communication system of choice used by deaf people (DP). An incorrect communication with physicians hampers the adequate provision of health care. DP require a professional ASL interpreter (PASLI) in the...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章

    doi:10.5546/aap.2018.eng.310

    authors: Cutri AM,Torres FA,Riquelme CC,Cabrera NB,Sandoval RR,Vesconi SM,Di Lalla S,Cordi L

    更新日期:2018-10-01 00:00:00

  • Prognostic factors of severity of invasive community acquired Staphylococcus aureus infections in children.

    abstract:OBJECTIVE:To describe the clinical characteristics of invasive Staphylococcus aureus infections in children and identify the prognostic factors of severity and mortality. MATERIALS AND METHODS:Observational study in patients < 16 years old hospitalized between 2010 and 2015 due to invasive S. aureus infections at the ...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章

    doi:10.5546/aap.2019.eng.381

    authors: Araya S,Galeano F,Amarilla S,González N,Apodaca S,Lovera D,Arbo A

    更新日期:2019-12-01 00:00:00

  • Detection of illicit drugs in urine in the Division of Neonatology, Hospital Molas in La Pampa.

    abstract::There are few studies on the use of illicit drugs during pregnancy with a variable prevalence depending on the year, maternal age, region and diagnostic methods. Mothers' and newborn infants' urine samples were tested for illegal drugs in cases where the mother reported consumption, lack of antenatal care and neonatal...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章

    doi:10.5546/aap.2013.232

    authors: Villarreal M,Ré S

    更新日期:2013-06-01 00:00:00

  • [Langerhans cell histiocytosis presenting as isolated adenitis in an infant: case report].

    abstract::Langerhans cell histiocytosis in infants is a rare condition, and presentation as an isolated cervical adenitis is exceptional at this age. We describe the case of a 3-month-old female infant presenting with a neck mass in the right mandibular angle with poor response to antibiotic treatment. Fine needle aspiration wa...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章

    doi:10.5546/aap.2016.e264

    authors: Soriano-Ramos M,Salcedo Lobato E,Baro Fernández M,Blázquez-Gamero D

    更新日期:2016-08-01 00:00:00

  • Perinatal factors associated with neonatal mortality in very low birth weight infants: a multicenter study.

    abstract:INTRODUCTION:Objectives. To assess risk factors associated withneonatal mortality in very low birth weight (VLBW) infants (< 1500 g) and the impact of the administration of antenatal corticosteroids. POPULATION AND METHODS:Retrospective analysis of a VLBW infant cohort from 26 tertiary care and teaching sites member o...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章,多中心研究

    doi:10.5546/aap.2016.426

    authors: Grandi C,González A,Zubizarreta J,Red Neonatal NEOCOSUR.

    更新日期:2016-10-01 00:00:00

  • Refusal to have children vaccinated: A challenge to face.

    abstract::Vaccinations are a critical public health tool. However, a significant number of people decide not to get vaccinated or refuse to have their children immunized. Physicians who recommend people who have an indication for vaccination not to get vaccinated go against official immunization programs, contradict sound scien...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章

    doi:10.5546/aap.2015.443

    authors: Justich PR

    更新日期:2015-10-01 00:00:00

  • [Ethical aspects of taking and using photographs in pediatric medical practice].

    abstract::From the beginning of medicine, the reproduction of patients' images, initially as drawings, either for didactic purposes or to share experiences, were common in medical practice. Photography greatly facilitated and generalized this practice within health teams. The images of the affected patients need the same consen...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章

    doi:10.5546/aap.2020.S64

    authors: Del Valle MA,Albano LC,Orsi MC,Martínez Perea MDC

    更新日期:2020-04-01 00:00:00

  • Biosemiotic medicine: From an effect-based medicine to a process-based medicine.

    abstract::Contemporary medicine is characterized by an increasing subspecialization and the acquisition of a greater knowledge about the interaction among the different body structures (biosemiotics), both in health and disease. This article proposes a new conceptualization of the body based on considering it as a biological sp...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章

    doi:10.5546/aap.2020.eng.e449

    authors: Musso CG

    更新日期:2020-10-01 00:00:00

  • Analysis of the flow-volume curve in children and adolescents with allergic rhinitis without asthma.

    abstract:INTRODUCTION:There is epidemiological, functional and pathologic evidence that relates upper and lower airways, clinically known as a single respiratory tract. Patients with allergic rhinitis without asthma may present subclinical abnormal spirometry parameters. OBJECTIVES:To describe the results of the flow-volume cu...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章

    doi:10.5546/aap.2013.322

    authors: Ianiero L,Saranz RJ,Lozano NA,Lozano A,Sasia LV,Ramírez M,Cuestas E

    更新日期:2013-07-01 00:00:00

  • [Consensus on hyperbilirubinemia of the first trimester of life].

    abstract::Neonatal jaundice may be due to different causes, ranging from physiological conditions to severe diseases. In term neonates with persistent jaundice beyond 14 days of life, it should be determined whether hyperbilirubinemia is unconjugated or conjugated, in order to study the etiology and start early treatment. In th...

    journal_title:Archivos argentinos de pediatria

    pub_type: 共识发展会议,杂志文章

    doi:10.5546/aap.2020.S12

    authors: Comité Nacional de Hepatología Pediátrica.

    更新日期:2020-02-01 00:00:00

  • [Maxillary osteomyelitis secondary to rhinosinusitis in children: case report].

    abstract::Rhinosinusitis is a very common childhood condition. Osteomyelitis is an unusual complication, which mainly occurs in toddlers and young children. The most frequent etiologic agent is Staphylococcus aureus. Iniatially, it is characterized by fever, low eyelid edema, unilateral rhinorrhea and ipsilateral palatine edema...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章

    doi:10.5546/aap.2016.e87

    authors: Martins A,Bordino L,Cohen D,Cruz D,Fitz Maurice Mde L,Spini RG

    更新日期:2016-04-01 00:00:00

  • [Sepsis due to Pseudomona as a debut of a primary immunodeficiency in a child].

    abstract::X-linked agammaglobulinemia is a primary humoral immunodeficiency. It is a recessive X-linked disorder characterized by low or absent circulating mature B cells, hypo/agammaglobulinemia and no humoral response to immunizations due to mutations along chromosome X. It is characterized by severe, recurrent and difficult ...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章

    doi:10.5546/aap.2016.e444

    authors: Vera Sáez-Benito MC,López Úbeda M,Madurga Revilla P,de Arriba Muñoz A,Bustillo Alonso M,Rodríguez-Vigil Iturrate C

    更新日期:2016-12-01 00:00:00

  • [New oral manifestations of Branchio-oculo-facial syndrome. Case report].

    abstract::The branchio-oculo-facial syndrome is a dominant autosomic condition with variable expressivity that affects particularly the facial and neck structures by an inadequate development of the first and second branchial arch. It is characterized by malformations of eyes and ears, with distinct facial characteristics. It i...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章

    doi:10.5546/aap.2015.e14

    authors: García Flores JB,Escamilla Ocañas CE,Martínez Menchaca HR,Treviño Alanís MG,Rivera Silva G

    更新日期:2015-01-01 00:00:00

  • [Heritability and environment in normal and abnormal development].

    abstract::The environmental influence on human development can be studied by assessing similarities and discrepancies in developmental traits between biological and adopted siblings and twins, reared together and reared apart. Approximately 50% of total variance of general cognitive ability in a given population can be explaine...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章

    doi:10.1590/S0325-00752010000600009

    authors: Lejarraga H

    更新日期:2010-12-01 00:00:00

  • Oxygen saturation, periodic breathing and apnea during sleep in infants 1 to 4 month old living at 2,560 meters above sea level.

    abstract:UNLABELLED:There are few data in the literature related to polysomnography in infants in altitudes from 2,200 m to 2,800 m. The main objective of this investigation was to describe oxygen saturation (SpO2) levels during sleep in infants aged between 1 and 4 months living at an altitude of 2,560 m. The secondary objecti...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章

    doi:10.5546/aap.2015.341

    authors: Ucrós S,Granados C,Parejo K,Guillén F,Ortega F,Restrepo S,Gil F,Guillén M

    更新日期:2015-08-01 00:00:00

  • [Meconium periorchitis: A case report].

    abstract::Meconium periorchitis is uncommon. In the unborn child the peritoneum vaginal canal is open and, secondary to intestinal perforation due to any cause (intestinal atresia, volvulus, and others), meconium peritonitis occurs. The intestinal content reaches the scrotal vaginal cavity. Meconium peritonitis can heal spontan...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章

    doi:10.5546/aap.2015.e330

    authors: Acosta P,Gambina F,Perelli L,Díaz Pumará E,Martínez JL,Etchepareborda MN,Zuccardi L

    更新日期:2015-12-01 00:00:00

  • [Effects of prenatal steroids in the development of necrotizing enterocolitis in Wistar rat neonates].

    abstract:INTRODUCTION:Necrotizing enterocolitis (NEC) is a frequent problem in preterm infants. Prenatal treatment with steroids proved to be effective for lung maturation and it is thought to have a protective effect on the immature bowel. OBJECTIVES:To study the effects of prenatal treatment with steroids at the onset, clini...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章

    doi:10.1590/S0325-00752011000100007

    authors: Bortolin L,Boer M,Christiansen S,García Rivello H,Arbat J,Fustiñana C

    更新日期:2011-02-01 00:00:00

  • [Tuberculous lymphadenopathy. Diagnosis and treatment. Case report].

    abstract::Tuberculosis is a common cause of morbimortality among children, especially in developing countries, where 95% of cases occur. Child tuberculosis is closely related to tuberculosis in the adult, since the diagnosis is an indicator of poor surveillance, treatment, and effort to eradicate it. Tuberculous lymphadenitis (...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章

    doi:10.1590/S0325-00752011000200012

    authors: Didier Cruz Anleu I,Velázquez Serratos JR,Alejandre García A

    更新日期:2011-04-01 00:00:00

  • Epidemiology of sudden unexpected death in infancy in Argentina: secular trend and spatial variation.

    abstract:Introduction:Infant mortality comprises deaths among infants younger than one year old. The proportion of sudden unexpected death in infancy (SUDI) varies by country and based on the cause of death. Objective:To describe the spatial and temporal variation of SUDI in Argentina between 1991 and 2014 according to the Int...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章

    doi:10.5546/aap.2019.eng.164

    authors: Chapur VF,Alfaro EL,Bronberg R,Dipierri JE

    更新日期:2019-06-01 00:00:00

  • [Paroxysmal upgaze deviation syndrome].

    abstract::In 1988, Ouvrier and Billson described four children with a condition they termed "benign paroxysmal tonic upgaze syndrome". The clinical picture is characterized by the appearance, in the first months of life, of episodes of paroxysmal upgaze deviation of varying duration, and without alteration of consciousness. Fix...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章

    doi:10.1590/S0325-00752010000500012

    authors: Sousa L,Gonorazky S

    更新日期:2010-10-01 00:00:00

  • [Hereditary spherocytosis. Review. Part II. Symptomatology, outcome, complications, and treatment].

    abstract::Hereditary spherocytosis must always be suspected in children with anemia, hyperbilirubinemia, splenomegaly or cholelithiasis, in the asymptomatic individual with an affected relative, and in the neonate with hyperbilirubinemia with no blood group incompatibility; its early detection is key to avoid kernicterus. Follo...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章,评审

    doi:10.5546/aap.2015.168

    authors: Comité Nacional de Hematología.,Donato H,Crisp RL,Rapetti MC,García E,Attie M

    更新日期:2015-04-01 00:00:00

  • Original salbutamol versus similar salbutamol in children with asthma exacerbation: a randomized, controlled, double-blind study.

    abstract:INTRODUCTION:There is clinical evidence suggesting that original salbutamol is more effective than a similar salbutamol product to revert symptoms in acute asthma exacerbation.. OBJECTIVE:To evaluate the bronchodilator response of both salbutamol medicinal products in children with asthma and to establish, based on th...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章,随机对照试验

    doi:10.5546/aap.2012.285

    authors: Molise MC,Maffey AF,Ramos P,Rubinstein F

    更新日期:2012-08-01 00:00:00

  • [Prescription and use of antibiotics at a pediatric intensive care unit in Buenos Aires City].

    abstract:INTRODUCTION:Antibiotics are the most prescribed drugs in pediatric intensive care units (PICU) with high impact in pathogens resistance and costs. OBJECTIVES:Evaluate prescription patterns and consumption of antibiotics. MATERIALS AND METHODS:From July 2006 to January 2007, monthly cross-sectional cuts were done on ...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章

    doi:10.1590/S0325-00752008000500007

    authors: Bidone N,Giglio N,Bakir J,Sheehan MG,Arias López MP,Rosin M,Farías J,Procopio A,Gentile A

    更新日期:2008-10-01 00:00:00

  • [Primary pyomyositis due to community acquired methicillin resistant Staphylococcus aureus].

    abstract::Primary pyomyositis is an acute or subacute bacterial infection of skeletal muscle characterized by the formation of intramuscular localized abscess without a previous adjoining or remote infection. Although it is not frequent in our population, it is increasing because of community-acquired methicillin-resistant Stap...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章

    doi:10.1590/S0325-00752008000600014

    authors: Jozefkowicz M,Jorrat P,Méndez J

    更新日期:2008-12-01 00:00:00