Complete DiGeorge anomaly in the absence of neonatal hypocalcemia and velofacial and cardiac defects.

Abstract:

:We report an atypical case of complete DiGeorge (DG) anomaly that presented initially exclusively as severe combined immunodeficiency (SCID). The child had severe infections at diagnosis, in keeping with the SCID phenotype; however, normal lymphocyte counts and immunoglobulin levels were noted at admission, which delayed diagnosis. Importantly, the child presented without neonatal hypocalcemia or velofacial or cardiac abnormalities at the time of diagnosis, which masked underlying DG. This case outlines the difficulties in making the diagnosis of SCID in a timely manner and illustrates the variation in presentation of the 22q11.2 deletion syndrome. There should be a high index of suspicion for primary immunodeficiency among children with severe infections and, because management may vary, DG anomaly should be considered in the differential diagnosis of T- B+ natural killer+ SCID.

journal_name

Pediatrics

journal_title

Pediatrics

authors

Al-Tamemi S,Mazer B,Mitchell D,Albuquerque P,Duncan AM,McCusker C,Jabado N

doi

10.1542/peds.2005-0371

subject

Has Abstract

pub_date

2005-09-01 00:00:00

pages

e457-60

issue

3

eissn

0031-4005

issn

1098-4275

pii

peds.2005-0371

journal_volume

116

pub_type

杂志文章
  • Helping Babies Survive Programs as an Impetus for Quality Improvement.

    abstract::Achieving the ambitious reduction in global neonatal mortality targeted in the Sustainable Development Goals and Every Newborn Action Plan will require reducing geographic disparities in newborn deaths through targeted implementation of evidence-based practices. Helping Babies Survive, a suite of educational programs ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2020-016915J

    authors: Ehret DEY,Patterson JK,Kc A,Worku B,Kamath-Rayne BD,Bose CL

    更新日期:2020-10-01 00:00:00

  • Serious air rifle injuries in children.

    abstract::Seven potentially lethal air gun injuries in children are reported. Multiple-pump action air rifles have penetration velocities far in excess of the classic Daisy "BB" guns. However, these lethal weapons are sold to be used by children. Lack of effective regulatory legislation coupled with parental ignorance will cont...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Blocker S,Coln D,Chang JH

    更新日期:1982-06-01 00:00:00

  • Risk for PHACE syndrome in infants with large facial hemangiomas.

    abstract:OBJECTIVES:This study was conducted to determine the prevalence of posterior fossae of the brain, arterial anomalies, cardiac anomalies, and eye anomalies (PHACE) in infants with large facial hemangiomas. The extracutaneous manifestations of PHACE may be associated with significant morbidity, and the prevalence of PHAC...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2009-3166

    authors: Haggstrom AN,Garzon MC,Baselga E,Chamlin SL,Frieden IJ,Holland K,Maguiness S,Mancini AJ,McCuaig C,Metry DW,Morel K,Powell J,Perkins SM,Siegel D,Drolet BA

    更新日期:2010-08-01 00:00:00

  • The delivery of immunizations and other preventive services in private practices.

    abstract:OBJECTIVES:To measure the proportion of children cared for in private practices who are fully immunized and have been screened for anemia, tuberculosis (TB), and lead poisoning by 2 years of age. DESIGN:Cross-sectional chart review. SETTING:Fifteen private pediatric practices in central North Carolina (11 chosen rand...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Bordley WC,Margolis PA,Lannon CM

    更新日期:1996-04-01 00:00:00

  • Violaceous discoloration in pneumococcal cellulitis.

    abstract::Two patients with periobital cellulitis, one of whom also had buccal cellulitis, had violaceous discoloration of the skin. Blood cultures from both patients yielded Streptococcus pneumoniae. Therefore, pneumococci should be considered, in addition to Haemophilus influenzae, as possible causes of cellulitis with violac...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Thirumoorthi MC,Asmar BI,Dajani AS

    更新日期:1978-10-01 00:00:00

  • Incidence of fractures among children with burns with concern regarding abuse.

    abstract:OBJECTIVE:Consensus recommendations state that a radiographic skeletal survey is mandatory for all children <2 years of age with concern for physical abuse. It has been suggested that patients with burns may represent a special subgroup at lower risk for occult fractures, compared with other abused children. Our object...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2009-1478

    authors: Degraw M,Hicks RA,Lindberg D,Using Liver Transaminases to Recognize Abuse (ULTRA) Study Investigators.

    更新日期:2010-02-01 00:00:00

  • Concurrent child health status and maternal recall of events in infancy.

    abstract:BACKGROUND:Obtaining information on children's health and health events is heavily dependent on maternal report. Experience as to what factors influence accuracy of reporting varies, and few studies have examined the influence of current child health status on recall. METHODS:A prospective cohort study involving 1833 ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: McCormick MC,Brooks-Gunn J

    更新日期:1999-11-01 00:00:00

  • Mitomycin C test for diagnostic differentiation of idiopathic aplastic anemia and Fanconi anemia.

    abstract::A cytogenetic test was developed to enable the diagnostic differentiation between Fanconi anemia and the group of disorders classified as "idiopathic" aplastic anemia. The method is based on the effect of the bifunctional alkylating agent mitomycin C (MMC) on chromosomes of peripheral lymphocytes in culture 92 to 96 h...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Cervenka J,Arthur D,Yasis C

    更新日期:1981-01-01 00:00:00

  • Variation in Preoperative Testing and Antireflux Surgery in Infants.

    abstract:BACKGROUND:Despite the availability of objective tests, gastroesophageal reflux disease (GERD) diagnosis and management in infants remains controversial and highly variable. Our purpose was to characterize national variation in diagnostic testing and surgical utilization for infants with GERD. METHODS:Using the Pediat...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2017-0536

    authors: Short HL,Braykov NP,Bost JE,Raval MV

    更新日期:2017-08-01 00:00:00

  • Health risk behaviors in adolescents with chronic conditions.

    abstract:OBJECTIVE:The objective of this study was to compare the frequency of risk behaviors and to measure the extent of co-occurrence of these behaviors in chronically ill and healthy adolescents. METHODS:Data were drawn from the 2002 Swiss Multicenter Adolescent Survey on Health database, a nationally representative survey...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2008-1479

    authors: Surís JC,Michaud PA,Akre C,Sawyer SM

    更新日期:2008-11-01 00:00:00

  • Mortality and morbidity of 500- to 1,499-gram birth weight infants live-born to residents of a defined geographic region before and after neonatal intensive care.

    abstract::All very low-birth-weight infants live-born to residents of an urban southern Ontario county were studied before (1964 to 1969) and after (1973 to 1977) the introduction of neonatal intensive care. Mortality at hospital discharge decreased from 89.4% to 77.6% among infants whose birth weights were 500 to 999 gm and fr...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Horwood SP,Boyle MH,Torrance GW,Sinclair JC

    更新日期:1982-05-01 00:00:00

  • Evaluation of airway complications in high-risk preterm infants: application of flexible fiberoptic airway endoscopy.

    abstract:OBJECTIVES:We sought to determine factors that would predict the development of subglottic stenosis (SGS) and tracheomalacia (TM) in preterm infants. The utility of a semiquantitative measurement of airway dimensions was assessed in relation to signs of airway complications. We also sought to determine from a high-risk...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Downing GJ,Kilbride HW

    更新日期:1995-04-01 00:00:00

  • Successful direct extubation of very low birth weight infants from low intermittent mandatory ventilation rate.

    abstract::It is common practice to use endotracheal continuous positive airway pressure for various time periods up to 24 hours before attempting extubation in infants who are mechanically ventilated. A few studies in newborns have indicated that airway resistance is increased through small endotracheal tubes. This increases th...

    journal_title:Pediatrics

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:

    authors: Kim EH,Boutwell WC

    更新日期:1987-09-01 00:00:00

  • Preventing neonatal group B streptococcal disease: cost-effectiveness in a health maintenance organization and the impact of delayed hospital discharge for newborns who received intrapartum antibiotics.

    abstract:OBJECTIVES:To estimate the cost and health benefits of implementing a risk factor-based prevention strategy for early-onset neonatal group B streptococcal (GBS) disease, using baseline assumptions and costs from a health maintenance organization. With the risk factor-based strategy, intrapartum antibiotics (IPAs) would...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.103.4.703

    authors: Mohle-Boetani JC,Lieu TA,Ray GT,Escobar G

    更新日期:1999-04-01 00:00:00

  • Management of Neonates Born to Mothers With Graves' Disease.

    abstract::Neonates born to mothers with Graves' disease are at risk for significant morbidity and mortality and need to be appropriately identified and managed. Because no consensus guidelines regarding the treatment of these newborns exist, we sought to generate a literature-based management algorithm. The suggestions include ...

    journal_title:Pediatrics

    pub_type: 杂志文章,评审

    doi:10.1542/peds.2015-1878

    authors: van der Kaay DC,Wasserman JD,Palmert MR

    更新日期:2016-04-01 00:00:00

  • Obesity and Mortality Risk in Critically Ill Children.

    abstract:BACKGROUND AND OBJECTIVES:Childhood obesity is epidemic and may be associated with PICU mortality. Using a large multicenter PICU database, we investigated the association between obesity and PICU mortality, adjusting for initial severity of illness. We further investigated whether height- and weight-based classificati...

    journal_title:Pediatrics

    pub_type: 杂志文章,多中心研究

    doi:10.1542/peds.2015-2035

    authors: Ross PA,Newth CJ,Leung D,Wetzel RC,Khemani RG

    更新日期:2016-03-01 00:00:00

  • Otoacoustic emissions as a screening test for hearing impairment in children recovering from acute bacterial meningitis.

    abstract:OBJECTIVES:To study the efficacy of otoacoustic emissions (OAEs) as a screening test for hearing impairment in children with acute bacterial meningitis. Hearing tests were performed before discharge from the hospital in an attempt to improve coverage and avoid delays in the diagnosis of postmeningitic hearing loss. ME...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.102.6.1364

    authors: Richardson MP,Williamson TJ,Reid A,Tarlow MJ,Rudd PT

    更新日期:1998-12-01 00:00:00

  • Azithromycin is as effective as and better tolerated than erythromycin estolate for the treatment of pertussis.

    abstract:OBJECTIVE:Although universal immunization against Bordetella pertussis (whooping cough) infection has resulted in dramatic reductions in the incidence of pertussis, outbreaks continue to occur in countries with excellent vaccine coverage. Treatment of infection may ameliorate symptom severity during the catarrhal phase...

    journal_title:Pediatrics

    pub_type: 临床试验,杂志文章,多中心研究,随机对照试验

    doi:10.1542/peds.114.1.e96

    authors: Langley JM,Halperin SA,Boucher FD,Smith B,Pediatric Investigators Collaborative Network on Infections in Canada (PICNIC).

    更新日期:2004-07-01 00:00:00

  • Media education.

    abstract::The American Academy of Pediatrics recognizes that exposure to mass media (eg, television, movies, video and computer games, the Internet, music lyrics and videos, newspapers, magazines, books, advertising) presents health risks for children and adolescents but can provide benefits as well. Media education has the pot...

    journal_title:Pediatrics

    pub_type: 指南,杂志文章

    doi:10.1542/peds.2010-1636

    authors: Strasburger VC,Council on Communications and Media American Academy of Pediatrics.

    更新日期:2010-11-01 00:00:00

  • Pediatric medication safety and the media: what does the public see?

    abstract:BACKGROUND:In the safety community, it is widely thought that a culture of safety is required to achieve high levels of safety. However, the press tends to report accidents, which are negative by their nature. Pediatric cases are often especially tragic. Relatively few data have been available on the role that the medi...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2005-2017

    authors: Stebbing C,Kaushal R,Bates DW

    更新日期:2006-06-01 00:00:00

  • Effects on breastfeeding of changes in maternity length-of-stay policy in a large health maintenance organization.

    abstract:OBJECTIVE:The purpose of this study was to evaluate the effects on breastfeeding rates of a private-sector early discharge program and a subsequent government mandate guaranteeing 48 hours of hospital coverage. METHODS:Interrupted time-series analyses were conducted on retrospective data from the automated medical rec...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.111.3.519

    authors: Madden JM,Soumerai SB,Lieu TA,Mandl KD,Zhang F,Ross-Degnan D

    更新日期:2003-03-01 00:00:00

  • Guidelines for Adolescent Depression in Primary Care (GLAD-PC): Part I. Practice Preparation, Identification, Assessment, and Initial Management.

    abstract:OBJECTIVES:To update clinical practice guidelines to assist primary care (PC) clinicians in the management of adolescent depression. This part of the updated guidelines is used to address practice preparation, identification, assessment, and initial management of adolescent depression in PC settings. METHODS:By using ...

    journal_title:Pediatrics

    pub_type: 杂志文章,实务指引

    doi:10.1542/peds.2017-4081

    authors: Zuckerbrot RA,Cheung A,Jensen PS,Stein REK,Laraque D,GLAD-PC STEERING GROUP.

    更新日期:2018-03-01 00:00:00

  • Do bullied children get ill, or do ill children get bullied? A prospective cohort study on the relationship between bullying and health-related symptoms.

    abstract:OBJECTIVES:A number of studies have shown that victimization from bullying behavior is associated with substantial adverse effects on physical and psychological health, but it is unclear which comes first, the victimization or the health-related symptoms. In our present study, we investigated whether victimization prec...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2005-0187

    authors: Fekkes M,Pijpers FI,Fredriks AM,Vogels T,Verloove-Vanhorick SP

    更新日期:2006-05-01 00:00:00

  • Health supervision for children with fragile X syndrome.

    abstract::Fragile X syndrome (an FMR1-related disorder) is the most commonly inherited form of mental retardation. Early physical recognition is difficult, so boys with developmental delay should be strongly considered for molecular testing. The characteristic adult phenotype usually does not develop until the second decade of ...

    journal_title:Pediatrics

    pub_type: 杂志文章,评审

    doi:10.1542/peds.2010-3500

    authors: Hersh JH,Saul RA,Committee on Genetics.

    更新日期:2011-05-01 00:00:00

  • Criteria for exchange transfusion in jaundiced newborns.

    abstract:OBJECTIVE:A widely published set of exchange transfusion criteria lowers critical bilirubin concentrations when the serum albumin falls to < 2.5 g/dL. Although acknowledging the role of bilirubin-albumin binding in bilirubin neurotoxicity, this approach may inadvertently produce two critical bilirubin concentrations. T...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Ahlfors CE

    更新日期:1994-03-01 00:00:00

  • Postconcussive symptom exaggeration after pediatric mild traumatic brain injury.

    abstract:BACKGROUND:A minority of pediatric patients who have mild traumatic brain injury (mTBI) report persistent postconcussive symptoms. In adults, failure on validity tests, which help to detect exaggerated or feigned problems, is associated with symptom complaints. No pediatric studies have examined the relationship betwee...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2013-3195

    authors: Kirkwood MW,Peterson RL,Connery AK,Baker DA,Grubenhoff JA

    更新日期:2014-04-01 00:00:00

  • Maternal Intellectual or Developmental Disability and Newborn Discharge to Protective Services.

    abstract:BACKGROUND:Approximately half of women with intellectual and developmental disabilities (IDDs) lose custody of their children at some point in their child's development, but their rates of and risk factors for newborn discharge to child protective services from the birth hospitalization are relatively unknown. METHODS...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2018-1416

    authors: Brown HK,Potvin LA,Lunsky Y,Vigod SN

    更新日期:2018-12-01 00:00:00

  • Parent and physician attitudes regarding electronic communication in pediatric practices.

    abstract:OBJECTIVE:To determine 1) the electronic mail (e-mail) capabilities of families, general pediatricians (GPs), and subspecialty pediatricians (SPs) from an integrated pediatric health care delivery system and 2) the knowledge base and attitudes of these groups regarding the potential issues involved in using e-mail for ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.109.5.740

    authors: Kleiner KD,Akers R,Burke BL,Werner EJ

    更新日期:2002-05-01 00:00:00

  • Utilization of pediatric hospitals in New York State.

    abstract:BACKGROUND:Little published information is available regarding the proportion of hospitals that offer pediatric services at specified levels, or the actual utilization of such services. OBJECTIVE:To determine if an existing national accreditation process created for educational purposes identifies hospitals with a dis...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.111.5.1068

    authors: Kanter RK,Egan M

    更新日期:2003-05-01 00:00:00

  • Does bed sharing affect the risk of SIDS? American Academy of Pediatrics. Task Force on Infant Positioning and SIDS.

    abstract::The American Academy of Pediatrics endorses and accepts as its policy the position on bed sharing as articulated below by a panel of experts convened by the National Institute of Child Health and Human Development (NICHD). The Panel attended a conference sponsored by the NICHD entitled "Infant Sleep Environment and SI...

    journal_title:Pediatrics

    pub_type: 指南,杂志文章

    doi:

    authors:

    更新日期:1997-08-01 00:00:00