Severe Central Sleep Apnea in Vici Syndrome.

Abstract:

:Vici syndrome is a rare congenital multisystem disorder due to recessive mutations in the key autophagy regulator EPG5. Vici syndrome is characterized by agenesis of the corpus callosum, hypopigmentation, immunodeficiency, cataracts, and cardiomyopathy, with variable additional multisystem involvement. Here we report on a 5-year-old girl who presented with global developmental delay, seizures, callosal agenesis, cataracts, sensorineural hearing loss, hypopigmentation, and immunodeficiency with a low CD4 count and recurrent infections. EPG5 sequencing (prompted by suggestive clinical features) revealed a homozygous missense mutation, c.1007A>G (p.Gln336Arg). The patient was referred to our center for evaluation of nocturnal apnea. Overnight polysomnography showed severe central sleep apnea (CSA) with an overall apnea-hypopnea index of 100.5 events per hour of sleep (central apnea index of 97.5, mixed apnea index of 2, and obstructive hypopnea index of 1). The patient responded to bilevel positive airway pressure therapy with a backup rate with normalization of the apnea-hypopnea index and maintenance of oxygen saturation >90%. Despite successful control of the severe CSA, the patient was eventually started on nocturnal oxygen therapy due to excessive upper airway secretions and the high risk of possible aspiration with positive airway pressure therapy. This is the first report of EPG5-related Vici syndrome associated with CSA. We discuss the polysomnographic findings in our patient in the context of a brief literature review of the reported sleep abnormalities in Vici syndrome.

journal_name

Pediatrics

journal_title

Pediatrics

authors

El-Kersh K,Jungbluth H,Gringras P,Senthilvel E

doi

10.1542/peds.2015-0297

subject

Has Abstract

pub_date

2015-11-01 00:00:00

pages

e1390-4

issue

5

eissn

0031-4005

issn

1098-4275

pii

peds.2015-0297

journal_volume

136

pub_type

杂志文章
  • Prolonged QTc interval in association with medium-chain acyl-coenzyme A dehydrogenase deficiency.

    abstract::Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is the most common disorder of mitochondrial fatty acid oxidation. We report a term male infant who presented at 3 days of age with hypoglycemia, compensated metabolic acidosis, hypocalcemia, and prolonged QTc interval. Pregnancy was complicated by maternal ...

    journal_title:Pediatrics

    pub_type: 杂志文章,评审

    doi:10.1542/peds.2013-1105

    authors: Wiles JR,Leslie N,Knilans TK,Akinbi H

    更新日期:2014-06-01 00:00:00

  • Ganglioneuroblastoma and fetal hydantoin-alcohol syndromes.

    abstract::A ganglioneuroblastoma developed in a 35-month-old boy with both the fetal hydantoin and fetal alcohol syndromes. Our case, plus two recent reports in the literature, would very likely establish the relationship between fetal hydantoin syndrome and the development of neural crest tumors. Infants exposed in utero to hy...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Seeler RA,Israel JN,Royal JE,Kaye CI,Rao S,Abulaban M

    更新日期:1979-04-01 00:00:00

  • Uninterrupted Infant Sleep, Development, and Maternal Mood.

    abstract:OBJECTIVES:Contrary to the importance of total sleep duration, the association between sleeping through the night and development in early infancy remains unclear. Our aims were to investigate the proportion of infants who sleep through the night (6- or 8-hour sleep blocks) at ages 6 and 12 months in a longitudinal coh...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2017-4330

    authors: Pennestri MH,Laganière C,Bouvette-Turcot AA,Pokhvisneva I,Steiner M,Meaney MJ,Gaudreau H,Mavan Research Team.

    更新日期:2018-12-01 00:00:00

  • Antibiotic Prophylaxis for Children With Sickle Cell Anemia.

    abstract:BACKGROUND:Children with sickle cell anemia (SCA) are at increased risk for invasive pneumococcal disease; antibiotic prophylaxis significantly reduces this risk. We calculated the proportion of children with SCA who received ≥300 days of antibiotic prophylaxis and identified predictors of such receipt. METHODS:Childr...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2017-2182

    authors: Reeves SL,Tribble AC,Madden B,Freed GL,Dombkowski KJ

    更新日期:2018-03-01 00:00:00

  • Integrating Psychological Screening Into Medical Care for Youth With Abdominal Pain.

    abstract:BACKGROUND:Pediatric functional abdominal pain disorders are common, costly, and disabling. Clinical anxiety is highly prevalent and is associated with increased pain and functional disability. Thus, a psychological screening process is recommended but is infrequently used in current practice. METHODS:A screening proc...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2017-2876

    authors: Cunningham NR,Moorman E,Brown CM,Mallon D,Chundi PK,Mara CA,Pentiuk S,Lynch-Jordan AM,Dykes DMH,Elfers J,Farrell MK

    更新日期:2018-08-01 00:00:00

  • Successful use of plasma exchange for profound hemolysis in a child with loxoscelism.

    abstract::We describe a 6-year-old boy who presented with massive hemolysis, shock, disseminated intravascular coagulopathy, and acute renal failure after loxosceles envenomation. In this patient, plasma exchange therapy (PEX) successfully cleared the plasma from an initial hemolytic index of 2000 (equivalent to 2 g/dL hemoglob...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2013-3338

    authors: Said A,Hmiel P,Goldsmith M,Dietzen D,Hartman ME

    更新日期:2014-11-01 00:00:00

  • Prophylactic Early Erythropoietin for Neuroprotection in Preterm Infants: A Meta-analysis.

    abstract:CONTEXT:Recombinant human erythropoietin (rhEPO) is a promising pharmacological agent for neuroprotection in neonates. OBJECTIVE:To investigate whether prophylactic rhEPO administration in very preterm infants improves neurodevelopmental outcomes in a meta-analysis of randomized controlled trials (RCTs). DATA SOURCES...

    journal_title:Pediatrics

    pub_type: 杂志文章,meta分析,评审

    doi:10.1542/peds.2016-4317

    authors: Fischer HS,Reibel NJ,Bührer C,Dame C

    更新日期:2017-05-01 00:00:00

  • Delivery room decision-making for extremely preterm infants in Sweden.

    abstract:OBJECTIVE:To assess neonatologists' attitudes and practices regarding treatment of extremely preterm infants in the delivery room, particularly in response to parental wishes. STUDY DESIGN:Cross-sectional survey of all neonatologists in Sweden registered with the Swedish Pediatric Society. RESULTS:The response rate w...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2005-1885

    authors: Peerzada JM,Schollin J,Håkansson S

    更新日期:2006-06-01 00:00:00

  • Nutritional practices in the neonatal intensive care unit: analysis of a 2006 neonatal nutrition survey.

    abstract:OBJECTIVE:The goal of this investigation was to determine how current parenteral nutrition and enteral nutrition practice intentions for preterm infants compare with published recommendations and previous feeding practices. METHODS:A survey of feeding strategies for 3 preterm infant weight groups was sent to NICU dire...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2007-3644

    authors: Hans DM,Pylipow M,Long JD,Thureen PJ,Georgieff MK

    更新日期:2009-01-01 00:00:00

  • A cluster of children with seizures caused by camphor poisoning.

    abstract:BACKGROUND:Isolated cases of camphor-induced seizures have been reported in young children after gastrointestinal, dermal, and inhalation exposure. In 1982, after a series of unintentional ingestions of camphor products, the US Food and Drug Administration restricted the camphor content to <11% in some products intende...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2008-2097

    authors: Khine H,Weiss D,Graber N,Hoffman RS,Esteban-Cruciani N,Avner JR

    更新日期:2009-05-01 00:00:00

  • CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features.

    abstract:OBJECTIVES:CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome are known to have significant clinical overlap including cardiac anomalies, ear abnormalities, hearing loss, developmental delay, ren...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2008-3400

    authors: Jyonouchi S,McDonald-McGinn DM,Bale S,Zackai EH,Sullivan KE

    更新日期:2009-05-01 00:00:00

  • Cholestasis and Hepatic Iron Deposition in an Infant With Complex Glycerol Kinase Deficiency.

    abstract::We present a 6-week-old male infant with persistent hyperbilirubinemia, hypertriglyceridemia, elevated creatine kinase levels, and transaminitis since the second week of life. When he developed hyperkalemia, clinical suspicion was raised for adrenal insufficiency despite hemodynamic stability. A full endocrine workup ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2016-1479

    authors: Montoya-Williams D,Mowitz M

    更新日期:2017-07-01 00:00:00

  • Phototherapy for neonatal hyperbilirubinemia in "healthy" and "ill" infants.

    abstract::The effectiveness of phototherapy for nonhemolytic hyperbilirubinemia was evaluated in two groups of closely matched newborns, one group consisting of "healthy" and the other "ill" infants. Phototherapy was equally effective in reducing bilirubin levels in both groups of infants. It would seem to be the treatment of c...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Tan KL

    更新日期:1976-06-01 00:00:00

  • Fatal Haemophilus influenzae endocarditis diagnosed by echocardiography in an infant.

    abstract::A 1-year-old boy was admitted to the hospital with Haemophilus influenzae meningitis. On the second hospital day a heart murmur heard on admission seemed louder. No signs of congestive heart failure were present. An echocardiogram demonstrated a persistent echo-dense mass behind the anterior leaflet of the mitral valv...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Laird WP,Nelson JD,Weinberg AG,Huffines FD

    更新日期:1979-09-01 00:00:00

  • Primary angiitis of the central nervous system: neurologic deterioration despite treatment.

    abstract::Primary angiitis of the central nervous system (PACNS) is an idiopathic vasculitis confined to the central nervous system. In children with PACNS, small-vessel (SV) involvement is characterized clinically by progressive neurologic symptoms, multifocal lesions on brain imaging, occasional pseudo-tumor presentation, and...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2009-2729

    authors: De Tiège X,Van Bogaert P,Aeby A,Salmon I,Parpal H,Poppe AY,Maris C,Lanthier S

    更新日期:2011-04-01 00:00:00

  • Carbamate poisoning: the 'other' insecticide.

    abstract::A 16-month-old child who ingested rat poison, according to her parents, was noted to have signs of cholinergic poisoning. In the emergency department, the child was intubated and given atropine via the endotracheal tube until venous access was established. Phytonadione (vitamin K) and pralidoxime (2-PAM) were also adm...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Garber M

    更新日期:1987-05-01 00:00:00

  • Primary Care-Based Interventions to Promote Positive Parenting Behaviors: A Meta-analysis.

    abstract:CONTEXT:Utilization of primary care settings offers a promising approach to enhance parenting practices that are critical for promoting early childhood development. Determining the impact of existing primary care interventions on key parenting behaviors will aid providers and policy makers as they seek strategies to im...

    journal_title:Pediatrics

    pub_type: 杂志文章,meta分析,评审

    doi:10.1542/peds.2015-3393

    authors: Shah R,Kennedy S,Clark MD,Bauer SC,Schwartz A

    更新日期:2016-05-01 00:00:00

  • Severe perinatal Marfan syndrome.

    abstract::The cardiovascular manifestations of the Marfan syndrome in older children and adults have been well described. Clinical, radiographic, and echocardiographic data regarding three patients with severe perinatal Marfan syndrome are described. Two of these patients had the syndrome at birth and died in infancy. The syndr...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Gross DM,Robinson LK,Smith LT,Glass N,Rosenberg H,Duvic M

    更新日期:1989-07-01 00:00:00

  • SunSafe in the Middle School Years: a community-wide intervention to change early-adolescent sun protection.

    abstract:OBJECTIVE:Rising rates of skin cancer associated with early-life sun exposure make it important to improve adolescent sun-protection practices. Our study objective was to determine if a multicomponent community-wide intervention could alter the decline in sun protection that begins in early adolescence. METHODS:A rand...

    journal_title:Pediatrics

    pub_type: 杂志文章,随机对照试验

    doi:10.1542/peds.2006-1579

    authors: Olson AL,Gaffney C,Starr P,Gibson JJ,Cole BF,Dietrich AJ

    更新日期:2007-01-01 00:00:00

  • Global Climate Change and Children's Health.

    abstract::Rising global temperatures are causing major physical, chemical, and ecological changes in the planet. There is wide consensus among scientific organizations and climatologists that these broad effects, known as "climate change," are the result of contemporary human activity. Climate change poses threats to human heal...

    journal_title:Pediatrics

    pub_type: 指南,杂志文章

    doi:10.1542/peds.2015-3232

    authors: COUNCIL ON ENVIRONMENTAL HEALTH.

    更新日期:2015-11-01 00:00:00

  • Recognition of a Kawasaki disease shock syndrome.

    abstract:OBJECTIVE:We sought to define the characteristics that distinguish Kawasaki disease shock syndrome from hemodynamically normal Kawasaki disease. METHODS:We collected data prospectively for all patients with Kawasaki disease who were treated at a single institution during a 4-year period. We defined Kawasaki disease sh...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2008-1871

    authors: Kanegaye JT,Wilder MS,Molkara D,Frazer JR,Pancheri J,Tremoulet AH,Watson VE,Best BM,Burns JC

    更新日期:2009-05-01 00:00:00

  • Iatrogenic arteriovenous fistula after multiple arterial punctures.

    abstract::Multiple arterial punctures in the neonate can result in iatrogenic arteriovenous fistula formation. In one case, a 3-month-old infant who had been born prematurely was noted to have physical findings consistent with arteriovenous malformation following approximately 90 arterial blood gas determinations over a 13-week...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Ontell SJ,Gauderer MW

    更新日期:1985-07-01 00:00:00

  • Body image and dieting behavior in cystic fibrosis.

    abstract:OBJECTIVE:To examine the relationship between pulmonary function, nutritional status, body image, and eating attitudes in children with cystic fibrosis (CF) compared with healthy controls. METHOD:Seventy-six children with CF (39 girls) and 153 healthy control children (82 girls) were recruited. All children were betwe...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.107.6.e92

    authors: Truby H,Paxton AS

    更新日期:2001-06-01 00:00:00

  • Human Metapneumovirus Circulation in the United States, 2008 to 2014.

    abstract:BACKGROUND:Human metapneumovirus (HMPV) infection causes respiratory illness, including bronchiolitis and pneumonia. However, national HMPV seasonality, as it compares with respiratory syncytial virus (RSV) and influenza seasonality patterns, has not been well described. METHODS:Hospital and clinical laboratories repo...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2015-2927

    authors: Haynes AK,Fowlkes AL,Schneider E,Mutuc JD,Armstrong GL,Gerber SI

    更新日期:2016-05-01 00:00:00

  • Routine quantitative blood cultures in children with Haemophilus influenzae or Streptococcus pneumoniae bacteremia.

    abstract::The potential clinical value of quantitative blood cultures determined by a commercially available lysis-direct plating method was studied in 50 children with either Haemophilus influenzae or Streptococcus pneumoniae bacteremia. The magnitude of bacteremia correlated with the severity of the infection; patients with g...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Bell LM,Alpert G,Campos JM,Plotkin SA

    更新日期:1985-12-01 00:00:00

  • Costs and Use for Children With Medical Complexity in a Care Management Program.

    abstract:BACKGROUND AND OBJECTIVES:Children with medical complexity (CMC) comprise only 6% of the pediatric population, account for ∼40% of pediatric health care spending, and provide an important opportunity for cost saving. Savings in this group can have an important impact on pediatric health care costs. The objective of thi...

    journal_title:Pediatrics

    pub_type: 杂志文章,多中心研究

    doi:10.1542/peds.2019-2401

    authors: Bergman DA,Keller D,Kuo DZ,Lerner C,Mansour M,Stille C,Richardson T,Rodean J,Hudak M

    更新日期:2020-04-01 00:00:00

  • Transmission of hepatitis B virus infection by asymptomatic chronic HBsAg carrier mothers.

    abstract::The courses of 18 children born to 13 chronic hepatitis B surface antigen (HBsAg) carrier mothers were followed prospectively for serological and biochemical evidence of type B hepatitis. Three children developed transient HBsAg positivity accompanied by the appearance of antibody to the hepatitis B core antigen. Two ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Papaevangelou G,Hoofnagle JH

    更新日期:1979-04-01 00:00:00

  • Respiratory syncytial virus immune globulin treatment of RSV lower respiratory tract infection in previously healthy children.

    abstract:OBJECTIVE:To evaluate the efficacy of high titer respiratory syncytial virus (RSV) immune globulin (RSVIG) in the treatment of previously healthy children hospitalized with proven RSV lower tract infection (LRI). METHOD:Infants and young children

    journal_title:Pediatrics

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1542/peds.100.6.937

    authors: Rodriguez WJ,Gruber WC,Groothuis JR,Simoes EA,Rosas AJ,Lepow M,Kramer A,Hemming V

    更新日期:1997-12-01 00:00:00

  • Early language development in children exposed to or infected with human immunodeficiency virus.

    abstract:OBJECTIVES:To compare language development in infants and young children with human immunodeficiency virus (HIV) infection to language development in children who had been exposed to HIV but were uninfected, and (among subjects with HIV infection) to compare language development with cognitive and neurologic status. D...

    journal_title:Pediatrics

    pub_type: 临床试验,杂志文章

    doi:10.1542/peds.102.1.e8

    authors: Coplan J,Contello KA,Cunningham CK,Weiner LB,Dye TD,Roberge L,Wojtowycz MA,Kirkwood K

    更新日期:1998-07-01 00:00:00

  • Day-by-day postnatal survival in very low birth weight infants.

    abstract:OBJECTIVES:Postnatal survival rates of very low birth weight (VLBW) infants are well established for each birth weight or gestational age category. These figures do not differentiate viable infants who survive the first few days of life from extremely immature ones who die shortly after birth. This study aimed to devel...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2009-2810

    authors: Mohamed MA,Nada A,Aly H

    更新日期:2010-08-01 00:00:00