Case Report: When an Induced Illness Looks Like a Rare Disease.

Abstract:

:The recognition of fabricated illness (FI) in a child represents a diagnostic challenge. The suspicion of FI often arises from the discrepancy between laboratory tests and clinical history. For instance, (unnecessary) insulin injections by caregivers has been widely described as a common cause of factitious hypoglycemia that may be inferred from discrepancies between plasma insulin and c-peptide. However, contemporary administration of insulin with an insulin secretagogue (glyburide), and of additional drugs, can make the diagnostic pathway problematic. We report the case of a child 4 years and 11 months old, admitted for alternance of hypo- and hyperglycemia associated with hirsutism, hypokalemia, nephrocalcinosis, and neurodevelopmental delay. All these features were compatible with Rabson-Mendenhall syndrome, a rare disorder of severe insulin resistance linked to mutations of insulin receptor. At admission, plasma insulin levels were high during hypoglycemic episodes, but c-peptide was repeatedly in the normal range. The genetic analysis of insulin receptor was negative. The story of previous hospital admissions, inconsistency between insulin and c-peptide values, and association between hypoglycemic episodes in the child with the presence of the mother, raised the suspicion of FI. This hypothesis was confirmed by a video recording that revealed the administration by the mother of multiple drugs (insulin, glyburide, progesterone, and furosemide) that mimicked most of the features of Rabson-Mendenhall syndrome, including hirsutism and hypoglycemia with coincident, inappropriately normal c-peptide values due to the administration of the insulin secretagogue. Our case indicates that inconsistency among consecutive diagnostic tests should be regarded as a clue of FI.

journal_name

Pediatrics

journal_title

Pediatrics

authors

Rabbone I,Galderisi A,Tinti D,Ignaccolo MG,Barbetti F,Cerutti F

doi

10.1542/peds.2014-4165

subject

Has Abstract

pub_date

2015-11-01 00:00:00

pages

e1361-5

issue

5

eissn

0031-4005

issn

1098-4275

pii

peds.2014-4165

journal_volume

136

pub_type

杂志文章
  • Parental knowledge, attitudes, and practices associated with not receiving hepatitis A vaccine in a demonstration project in Butte County, California.

    abstract:OBJECTIVE:To determine hepatitis A vaccination coverage and factors associated with not receiving hepatitis A vaccine among children. METHODS:A random cluster sample survey was conducted of parents of children who attended kindergarten in Butte County, California, in 2000. Because of a history of recurrent epidemics, ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.112.4.e269

    authors: Bardenheier B,González IM,Washington ML,Bell BP,Averhoff F,Massoudi MS,Hyams I,Simard EP,Yusuf H

    更新日期:2003-10-01 00:00:00

  • 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 ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2015-0297

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

    更新日期:2015-11-01 00:00:00

  • Prenatal Exposure to Acetaminophen and Risk of ADHD.

    abstract:OBJECTIVES:To estimate the association between maternal use of acetaminophen during pregnancy and of paternal use before pregnancy with attention-deficit/hyperactivity disorder (ADHD) in offspring while adjusting for familial risk for ADHD and indications of acetaminophen use. METHODS:Diagnoses were obtained from the ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2016-3840

    authors: Ystrom E,Gustavson K,Brandlistuen RE,Knudsen GP,Magnus P,Susser E,Davey Smith G,Stoltenberg C,Surén P,Håberg SE,Hornig M,Lipkin WI,Nordeng H,Reichborn-Kjennerud T

    更新日期:2017-11-01 00:00:00

  • Sweat chloride concentrations in infants homozygous or heterozygous for F508 cystic fibrosis.

    abstract:OBJECTIVE:To determine whether an adequate volume of sweat could be obtained routinely from infants younger than 6 weeks old and to evaluate sweat chloride levels in infants with known genotype statuses, including heterozygote carriers for cystic fibrosis (CF). METHODOLOGY:Infants were evaluated using pilocarpine iont...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Farrell PM,Koscik RE

    更新日期:1996-04-01 00:00:00

  • Safety of a higher loading dose of phenobarbital in the term newborn.

    abstract::The conventional loading dose of phenobarbital for newborn infants with hypoxic-ischemic seizures, 20 mg/kg, often fails to control convulsive activity. To determine the safety of a higher loading dose and to establish the pharmacokinetic parameters of a higher loading dose, ten severely asphyxiated term newborns were...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Donn SM,Grasela TH,Goldstein GW

    更新日期:1985-06-01 00:00:00

  • Discordance between male and female deaths due to the respiratory distress syndrome.

    abstract::General neonatal mortality statistics and those for the respiratory distress syndrome (RDS) were examined for the State of Wisconsin from 1979 through 1982. The objectives were to ascertain whether there are differences in total neonatal mortality related to sex and birth weight, to determine the veracity of reported ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Perelman RH,Palta M,Kirby R,Farrell PM

    更新日期:1986-08-01 00:00:00

  • Use of C-reactive protein in differentiation between acute bacterial and viral otitis media.

    abstract:OBJECTIVES:The objectives of this investigation were: (1) to determine degree of elevation of serum C-reactive protein (CRP) in uncomplicated acute otitis media (AOM); (2) to compare serum CRP levels in bacterial and viral otitis media; and (3) to determine whether a single serum CRP level, obtained early in the course...

    journal_title:Pediatrics

    pub_type: 临床试验,杂志文章

    doi:

    authors: Tejani NR,Chonmaitree T,Rassin DK,Howie VM,Owen MJ,Goldman AS

    更新日期:1995-05-01 00:00:00

  • Ethical, legal, and social concerns about expanded newborn screening: fragile X syndrome as a prototype for emerging issues.

    abstract::Technology will make it possible to screen for fragile X syndrome and other conditions that do not meet current guidelines for routine newborn screening. This possibility evokes at least 8 broad ethical, legal, and social concerns: (1) early identification of fragile X syndrome, an "untreatable" condition, could lead ...

    journal_title:Pediatrics

    pub_type: 杂志文章,评审

    doi:10.1542/peds.2007-0820

    authors: Bailey DB Jr,Skinner D,Davis AM,Whitmarsh I,Powell C

    更新日期:2008-03-01 00:00:00

  • Self-management behaviors, racial disparities, and glycemic control among adolescents with type 2 diabetes.

    abstract:OBJECTIVE:Type 2 diabetes is a growing problem among adolescents, but little is known about self-management behaviors in this population. Our aim was to examine self-management behaviors and glycemic control among adolescents with type 2 diabetes. METHODS:From 2003 to 2005, a telephone survey of adolescents with type ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2007-1484

    authors: Rothman RL,Mulvaney S,Elasy TA,VanderWoude A,Gebretsadik T,Shintani A,Potter A,Russell WE,Schlundt D

    更新日期:2008-04-01 00:00:00

  • Mental health screening in pediatric practice: factors related to positive screens and the contribution of parental/personal concern.

    abstract:OBJECTIVES:The goals were to examine factors related to positive Pediatric Symptom Checklist scores in an urban practice and to examine the relative contribution of parental/personal concern about emotional and behavioral problems to mental health problem identification. METHODS:Annual screening using the Pediatric Sy...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2006-0026

    authors: Hacker KA,Myagmarjav E,Harris V,Suglia SF,Weidner D,Link D

    更新日期:2006-11-01 00:00:00

  • Cultural bias in the AAP's 2012 Technical Report and Policy Statement on male circumcision.

    abstract::The American Academy of Pediatrics recently released its new Technical Report and Policy Statement on male circumcision, concluding that current evidence indicates that the health benefits of newborn male circumcision outweigh the risks. The technical report is based on the scrutiny of a large number of complex scient...

    journal_title:Pediatrics

    pub_type: 评论,杂志文章

    doi:10.1542/peds.2012-2896

    authors: Frisch M,Aigrain Y,Barauskas V,Bjarnason R,Boddy SA,Czauderna P,de Gier RP,de Jong TP,Fasching G,Fetter W,Gahr M,Graugaard C,Greisen G,Gunnarsdottir A,Hartmann W,Havranek P,Hitchcock R,Huddart S,Janson S,Jaszczak P

    更新日期:2013-04-01 00:00:00

  • Guidelines for monitoring and management of pediatric patients during and after sedation for diagnostic and therapeutic procedures: an update.

    abstract::The safe sedation of children for procedures requires a systematic approach that includes the following: no administration of sedating medication without the safety net of medical supervision; careful presedation evaluation for underlying medical or surgical conditions that would place the child at increased risk from...

    journal_title:Pediatrics

    pub_type: 杂志文章,实务指引

    doi:10.1542/peds.2006-2780

    authors: American Academy of Pediatrics.,American Academy of Pediatric Dentistry.,Coté CJ,Wilson S,Work Group on Sedation.

    更新日期:2006-12-01 00:00:00

  • Renal cortical abnormalities in siblings of index patients with vesicoureteral reflux.

    abstract:OBJECTIVE:Screening siblings of index patients with vesicoureteral reflux (VUR) has been proposed to identify children who are at risk for renal damage. However, screening siblings for VUR remains controversial. We investigated the prevalence of VUR and renal cortical abnormalities in the sibling population in a large ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2013-3498

    authors: Hunziker M,Colhoun E,Puri P

    更新日期:2014-04-01 00:00:00

  • Evaluation and treatment of jaundice in the term newborn: a kinder, gentler approach.

    abstract::Standard recommendations for evaluating and treating jaundice in term babies include following all babies closely for jaundice, obtaining several laboratory tests in those with early jaundice or bilirubin levels more than 12 to 13 mg/dL (205 to 222 mumol/L), using phototherapy to try to keep bilirubin levels below 20 ...

    journal_title:Pediatrics

    pub_type: 杂志文章,评审

    doi:

    authors: Newman TB,Maisels MJ

    更新日期:1992-05-01 00:00:00

  • The effect of a community intervention trial on parental knowledge and awareness of antibiotic resistance and appropriate antibiotic use in children.

    abstract:BACKGROUND:Overuse of antibiotics for children's upper respiratory infections is widespread and contributes to the emergence of antibiotic-resistant bacteria. OBJECTIVE:To assess changes in knowledge and awareness regarding antibiotic resistance and appropriate antibiotic use after community-wide educational intervent...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.107.1.e6

    authors: Trepka MJ,Belongia EA,Chyou PH,Davis JP,Schwartz B

    更新日期:2001-01-01 00:00:00

  • Suicide Attempts and Childhood Maltreatment Among Street Youth: A Prospective Cohort Study.

    abstract:BACKGROUND:Although suicide is a known leading cause of death among street youth, few prospective studies have explored childhood experiences as risk factors for future suicide attempt in this population. We examined the risk of attempted suicide in relation to childhood maltreatment among street youth. METHODS:From S...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2015-1108

    authors: Hadland SE,Wood E,Dong H,Marshall BD,Kerr T,Montaner JS,DeBeck K

    更新日期:2015-09-01 00:00:00

  • Solitary renal myofibromatosis: an unusual cause of infantile hypertension.

    abstract:INTRODUCTION:Renovascular disease accounts for the vast majority of cases of infantile hypertension with complications resulting from umbilical arterial catheterization predominating in the neonatal period and fibrodysplastic lesions of the renal artery predominating outside the neonatal period. We report a previously ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.103.5.e66

    authors: Kasaragod AB,Lucia MS,Lum GM,Caldwell S,Stork L,Stenmark KR

    更新日期:1999-05-01 00:00:00

  • Menstruation in girls and adolescents: using the menstrual cycle as a vital sign.

    abstract::Young patients and their parents often are unsure about what represents normal menstrual patterns, and clinicians also may be unsure about normal ranges for menstrual cycle length and amount and duration of flow through adolescence. It is important to be able to educate young patients and their parents regarding what ...

    journal_title:Pediatrics

    pub_type: 杂志文章,评审

    doi:10.1542/peds.2006-2481

    authors: American Academy of Pediatrics Committee on Adolescence.,American College of Obstetricians and Gynecologists Committee on Adolescent Health Care.,Diaz A,Laufer MR,Breech LL

    更新日期:2006-11-01 00:00:00

  • Frequency and significance of physical evidence in legally proven cases of child sexual abuse.

    abstract::Clinicians have long recognized and attorneys have disputed that physical evidence of injury, sexually transmitted diseases, and seminal fluid are often absent in cases of child sexual abuse. To determine the frequency and significance of physical evidence in legally "proven" felony cases with penetration, a retrospec...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: De Jong AR,Rose M

    更新日期:1989-12-01 00:00:00

  • Fatal acute splenic sequestration at 4 months of age.

    abstract::A patient with homozygous sickle cell anemia is the youngest known to have died from acute splenic sequestration crisis. A cord blood screening program might have prevented this infant's death. ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Walterspiel JN,Rutledge JC,Bartlett BL

    更新日期:1984-04-01 00:00:00

  • "You are hereby commanded to appear": pediatrician subpoena and court appearance in child maltreatment.

    abstract:OBJECTIVE:To determine the frequency of court appearance by pediatricians evaluating child abuse and neglect cases and to identify case characteristics associated with actual court appearance or case adjournment. DESIGN:Retrospective review of subpoenas received between 1995 and 1999 for child maltreatment cases perso...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.107.6.1427

    authors: Palusci VJ,Hicks RA,Vandervort FE

    更新日期:2001-06-01 00:00:00

  • The well-being of the health care environment for CSHCN and their families: a latent variable approach.

    abstract:OBJECTIVE:Using structural equation modeling, we sought to assess the system of services for children with special health care needs (CSHCN) and their families by using 14 key indicators of functional abilities of CSHCN, health insurance coverage, access to care, and the impact of their conditions on their families. M...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2009-1255F

    authors: Blumberg SJ,Carle AC

    更新日期:2009-12-01 00:00:00

  • Neurodevelopmental outcomes of extremely low birth weight infants

    abstract:OBJECTIVE:This study evaluated the impact of changes in perinatal management on neurodevelopmental impairment (NDI) at 18 to 22 months' corrected age of low gestation (22-26 weeks) and higher gestation (27-32 weeks) extremely low birth weight infants (401-1000 g birth weight) who were cared for in the National Institut...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2004-2247

    authors: Vohr BR,Wright LL,Poole WK,McDonald SA

    更新日期:2005-09-01 00:00:00

  • Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency.

    abstract::A family is described in which the father and three (and probably all four) of his children had a decreased capacity for the oxidation of medium-chain fatty acids. One of the children suddenly died at the age of 16 months following an episode of a rapidly deteriorating Reye syndrome-like illness with hypoketotic hypog...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Duran M,Hofkamp M,Rhead WJ,Saudubray JM,Wadman SK

    更新日期:1986-12-01 00:00:00

  • Skin lesions in a boy with X-linked lymphoproliferative disorder: comparison of 5 SH2D1A deletion cases.

    abstract::SH2D1A gene defects are the cause of X-linked lymphoproliferative disorder (XLP-1), a rare condition characterized by severe immune dysregulation. We present a patient lacking the typical symptoms of XLP-1, but experiencing a severe unusual skin condition encompassing features of dermatosclerosis and vesiculobullous s...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2011-0870

    authors: Mejstríková E,Janda A,Hrusák O,Bucková H,Vlcková M,Hancárová M,Freiberger T,Ravcuková B,Vesely K,Fajkusová L,Kopecková L,Sumerauer D,Kabícková E,Sedivá A,Stary J,Sedlácek Z

    更新日期:2012-02-01 00:00:00

  • A prospective study of the role of depression in the development and persistence of adolescent obesity.

    abstract:BACKGROUND:Adolescent obesity is a strong predictor of adult obesity, and adult obesity has been associated with depression, especially in women. Studies have also suggested an association between depression in adolescence and higher body mass index (BMI) in adulthood. Whether depression leads to obesity or obesity cau...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.110.3.497

    authors: Goodman E,Whitaker RC

    更新日期:2002-09-01 00:00:00

  • Perinatal manifestations of maternal yellow nail syndrome.

    abstract::A term female firstborn infant had unexplained nonimmune fetal hydrops and recurrent left chylothorax at 4 weeks of age. A few months before conception, her mother had had acute dystrophic nail changes and is being treated for recurrent sinusitis, bronchiectasis, and a deficiency of serum IgG2. We suggest that they bo...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Govaert P,Leroy JG,Pauwels R,Vanhaesebrouck P,De Praeter C,Van Kets H,Goeteyn M

    更新日期:1992-06-01 00:00:00

  • Identification and evaluation of children with autism spectrum disorders.

    abstract::Autism spectrum disorders are not rare; many primary care pediatricians care for several children with autism spectrum disorders. Pediatricians play an important role in early recognition of autism spectrum disorders, because they usually are the first point of contact for parents. Parents are now much more aware of t...

    journal_title:Pediatrics

    pub_type: 杂志文章,评审

    doi:10.1542/peds.2007-2361

    authors: Johnson CP,Myers SM,American Academy of Pediatrics Council on Children With Disabilities.

    更新日期:2007-11-01 00:00:00

  • Explaining the low risk of preterm birth among arab americans in the United States: an analysis of 617451 births.

    abstract:OBJECTIVES:Arab Americans have a lower risk for preterm birth than white Americans. We assessed factors that may contribute to the association between ethnicity and preterm birth risk in Michigan, the state with the largest concentration of Arab Americans in the United States. Factors assessed as potential contributors...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2008-1634

    authors: El-Sayed AM,Galea S

    更新日期:2009-03-01 00:00:00

  • Rhabdomyolysis and myoglobinemia in neonates.

    abstract::Serial myoglobin determinations were made in 20 neonates during the first week of life to determine whether birth asphyxia results in ischemic damage to muscle with the subsequent pathologic release of myoglobin. Serum myoglobin values were significantly elevated in asphyxiated infants compared with control infants. H...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Kasik JW,Leuschen MP,Bolam DL,Nelson RM

    更新日期:1985-08-01 00:00:00