April 2018, VOLUME 141 / ISSUE Supplement 5
Table of Contents
- Open AccessThe Case for the Case ReportJ. Jeffrey MalatackPediatrics Apr 2018, 141 (Supplement 5) S379-S384; DOI: 10.1542/peds.2018-0328
Whether it's raising new hypotheses, finding individual case exceptions to current paradigms, providing alerts to untoward outcomes, or suggesting new therapies to be further tested, the case report remains a viable form of medical publication.
- Open AccessSuccessful Liver Transplants for Liver Failure Associated With Pyruvate Kinase DeficiencyMarie-Eve Chartier, Lara Hart, Massimiliano Paganelli, Najma Ahmed, Marc Bilodeau, Fernando AlvarezPediatrics Apr 2018, 141 (Supplement 5) S385-S389; DOI: 10.1542/peds.2016-3896
We describe 2 patients with PKD who presented with severe liver failure. These are the first patients to survive LT for PKD.
- Open AccessClinical Benefit of NMDA Receptor Antagonists in a Patient With ATP1A2 Gene MutationKeisuke Ueda, Fatema Serajee, Ahm M. HuqPediatrics Apr 2018, 141 (Supplement 5) S390-S394; DOI: 10.1542/peds.2017-0852
NMDA receptor antagonists may be effective for behavioral, cognitive, and cerebellar symptoms in patients with ATP1A2 gene mutation.
- Open AccessLung Volume Reduction Surgery for Respiratory Failure in Infants With Bronchopulmonary DysplasiaBongyeon Sohn, Samina Park, In Kyu Park, Young Tae Kim, June Dong Park, Sung-Hye Park, Chang Hyun KangPediatrics Apr 2018, 141 (Supplement 5) S395-S398; DOI: 10.1542/peds.2016-3901
For the first time, we report 2 cases of successful LVRS in infants with severe emphysematous lung.
- Open AccessUse of Insulin Glargine in the Management of Neonatal Hyperglycemia in an ELBW InfantMin J. Hwang, Robert Newman, Katherine Philla, Elizabeth FlaniganPediatrics Apr 2018, 141 (Supplement 5) S399-S403; DOI: 10.1542/peds.2016-1638
Report of successful management of hyperglycemia in ELBW infant with long-acting insulin. Long-acting insulin may be a safe and effective alternative treatment for neonatal hyperglycemia.
- Open AccessThe Use of Pyridostigmine in a Child With Chronic Intestinal Pseudo-ObstructionAhamodur Choudhury, Abdul Rahyead, Jochen Kammermeier, Mohamed MutalibPediatrics Apr 2018, 141 (Supplement 5) S404-S407; DOI: 10.1542/peds.2017-0007
We describe a novel therapy by the use of pyridostigmine (an ACI) in a child with CIPO.
- Open AccessTopical Hypochlorite and Skin Acidification Improves Erythroderma of Omenn SyndromeMargaret Wat, Arielle Olicker, Howard Meyerson, Susan Nedorost, Amy S. Paller, Kevin CooperPediatrics Apr 2018, 141 (Supplement 5) S408-S411; DOI: 10.1542/peds.2017-1249
We report marked improvement of Omenn syndrome erythroderma after dilute bleach bath compresses and skin acidification, suggesting their value for neonates with immunodeficiency.
- Open AccessVagal Termination of Ventricular Tachycardia in a Pediatric PatientKasey J. Chaszczewski, Cyndi Sosnowski, Rani GanesanPediatrics Apr 2018, 141 (Supplement 5) S412-S415; DOI: 10.1542/peds.2016-3792
Detailed in this report are the first published case of vagal termination of VT in a pediatric patient and a review of the mechanisms responsible for its success.
- Open AccessRecanalization of Occluded Central Veins in a Parenteral Nutrition–Dependent Child With No AccessPatrick M. Sullivan, Russell Merritt, Juan Carlos Pelayo, Frank F. IngPediatrics Apr 2018, 141 (Supplement 5) S416-S420; DOI: 10.1542/peds.2017-0270
Transcatheter techniques were used to reconstruct chronically occluded central veins in a PN-dependent patient with no remaining standard central access sites after a line infection.
- Open AccessPneumocystis Jirovecii Pneumonia During Sirolimus Therapy for Kaposiform HemangioendotheliomaThomas B. Russell, Emily K. Rinker, Claire S. Dillingham, Laurence B. Givner, Thomas W. McLeanPediatrics Apr 2018, 141 (Supplement 5) S421-S424; DOI: 10.1542/peds.2017-1044
An infant with KHE with KMP developed PCP while on sirolimus. Pneumocystis prophylaxis should be considered for patients receiving sirolimus.
- Open AccessA Case Report of 2 Sirolimus-Related Deaths Among Infants With Kaposiform HemangioendotheliomasHanru Ying, Congzhen Qiao, Xi Yang, Xiaoxi LinPediatrics Apr 2018, 141 (Supplement 5) S425-S429; DOI: 10.1542/peds.2016-2919
This Case Report reveals the fatal side effects of sirolimus treatment in infant patients with KHE and KMP who received no antibiotic prophylaxis.
- Open AccessB6 and Bleeding: A Case Report of a Novel Vitamin ToxicityAlexandra J. Borst, Dmitry TchapyjnikovPediatrics Apr 2018, 141 (Supplement 5) S430-S433; DOI: 10.1542/peds.2017-2039
Vitamin B6 and its derivatives are well tolerated with minimal known toxicity. We report the first pediatric case of excessive bleeding because of administration of pyridoxyal-5-phosphate.
- Open AccessHLA-A*31:01 and Oxcarbazepine-Induced DRESS in a Patient With Seizures and Complete DCX DeletionHyun Kim, Laura Chadwick, Yasir Alzaidi, Jonathan Picker, Annapurna Poduri, Shannon ManziPediatrics Apr 2018, 141 (Supplement 5) S434-S438; DOI: 10.1542/peds.2017-1361
In this report, we describe a previously uncharacterized association between the HLA-A*31:01 allele and the DRESS hypersensitivity reaction associated with oxcarbazepine administration.
- Open AccessVitamin A Deficiency Due to Selective Eating as a Cause of Blindness in a High-Income SettingSilvia Martini, Angela Rizzello, Ilaria Corsini, Benedetta Romanin, Michelangelo Fiorentino, Sara Grandi, Rosalba BergamaschiPediatrics Apr 2018, 141 (Supplement 5) S439-S444; DOI: 10.1542/peds.2016-2628
This case report aims to provide a thorough insight on the possible risk factors, clinical presentation spectrum, and diagnostic challenges associated with childhood VAD.
- Open AccessErythropoietic Protoporphyria: Initial Diagnosis With Cholestatic Liver DiseaseAmy Coffey, Daniel H. Leung, Norma M. QuintanillaPediatrics Apr 2018, 141 (Supplement 5) S445-S450; DOI: 10.1542/peds.2016-1625
A classic but rare case of EPP-related skin lesions went undiagnosed for years until the patient presented with cholestatic liver disease.
- Open AccessSome Limitations for Early Diagnosis of Congenital Chagas Infection by PCRBibiana Julieta Volta, Alina Elizabet Perrone, Rocío Rivero, Karenina Scollo, Patricia Laura Bustos, Jacqueline BuaPediatrics Apr 2018, 141 (Supplement 5) S451-S455; DOI: 10.1542/peds.2016-3719
Case report of an infrequent diagnosis of congenital Trypanosoma cruzi infection, causative agent of Chagas disease, negative for parasite diagnosis until 7 months after delivery.
- Open AccessAutoimmune Pancreatitis and Ulcerative Rectocolitis in an AdolescentElie Cousin, Ianis Cousin, Karim Aziz, Pascal Chailloux, Estelle BretonPediatrics Apr 2018, 141 (Supplement 5) S456-S461; DOI: 10.1542/peds.2016-0765
AIP is rare in teenagers and difficult to diagnose. We report the case of a 16-year-old teenager with AIP and ulcerative rectocolitis.
- Open AccessHistoplasmosis Myocarditis in an Immunocompetent Host After a Recreational Mud RunBriana L. Scott, Jennifer I. Sherwin, Kyle J. Rehder, Michael J. Campbell, Caroline P. OzmentPediatrics Apr 2018, 141 (Supplement 5) S462-S465; DOI: 10.1542/peds.2017-1074
This immunocompetent patient suffered severe cardiorespiratory decompensation requiring ECMO and was found to have histoplasmosis myocarditis with participation in a recreational mud run.
- Open AccessSternoclavicular Arthritis as a Clinical Presentation for Lyme DiseaseSriram Ramgopal, Margalit Rosenkranz, Andrew J. Nowalk, Noel S. ZuckerbraunPediatrics Apr 2018, 141 (Supplement 5) S466-S469; DOI: 10.1542/peds.2017-0725
This Case Report documents the unusual presence of small joint arthritis secondary to Lyme disease.
- Open AccessRecalcitrant Atopic Keratoconjunctivitis in Children: A Case Report and Literature ReviewJing Li, Xiaohui Luo, Hongmin Ke, Lingyi LiangPediatrics Apr 2018, 141 (Supplement 5) S470-S474; DOI: 10.1542/peds.2016-2069
Atopic keratoconjunctivitis (AKC) is a severe form of allergic conjuntivitis. AKC may need to be treated with systemic immunosuppression if topical therapy is ineffective.
- Open AccessNeonatal Adenovirus Infection Complicated by Hemophagocytic Lymphohistiocytosis SyndromeNina Censoplano, Stephen Gorga, Kate Waldeck, Terri Stillwell, Raja Rabah-Hammad, Heidi FloriPediatrics Apr 2018, 141 (Supplement 5) S475-S480; DOI: 10.1542/peds.2017-2061
Here, we present the clinical course of 2 neonates who were diagnosed with disseminated adenovirus with rapid clinical deterioration because of virus-associated HLH syndrome.
- Open AccessNALCN Dysfunction as a Cause of Disordered Respiratory Rhythm With Central ApneaJamie Campbell, David R. FitzPatrick, Tara Azam, Neil A. Gibson, Laura Somerville, Shelagh K. Joss, Deciphering Developmental Disorders Study, Don S. UrquhartPediatrics Apr 2018, 141 (Supplement 5) S485-S490; DOI: 10.1542/peds.2017-0026
In this series, we bring together 3 case patients through whole-exome sequencing and offer insights into the role of NALCN in human development.
- Open AccessProximal Hypospadias and a Novel WT1 Variant: When Should Genetic Testing Be Considered?Elizabeth Dabrowski, Amy E. Armstrong, Elizabeth Leeth, Emilie Johnson, Earl Cheng, Yasmin Gosiengfiao, Courtney FinlaysonPediatrics Apr 2018, 141 (Supplement 5) S491-S495; DOI: 10.1542/peds.2017-0230
We present a novel phenotypic presentation of a WT1 variant identified on a custom DSD gene panel.
- Open AccessInherited Immunodeficiency: A New Association With Early-Onset Childhood PanniculitisBrigitte Bader-Meunier, Frédéric Rieux-Laucat, Fabien Touzot, Marie-Louise Frémond, Isabelle André-Schmutz, Sylvie Fraitag, Christine BodemerPediatrics Apr 2018, 141 (Supplement 5) S496-S500; DOI: 10.1542/peds.2017-0213
In this report, we demonstrate that early-onset childhood panniculitis may reveal inherited immunodeficiency.
- Open AccessBlue Diaper Syndrome and PCSK1 MutationsFelix Distelmaier, Diran Herebian, Claudia Atasever, Stefanie Beck-Woedl, Ertan Mayatepek, Tim M. Strom, Tobias B. HaackPediatrics Apr 2018, 141 (Supplement 5) S501-S505; DOI: 10.1542/peds.2017-0548
BDS is an enigmatic disorder characterized by ink-like urine spots in the diapers of affected infants. We establish a link between BDS and PCSK1 mutations.
- Open AccessNeonatal Alloimmune Thrombocytopenia With Amegakaryocytosis, B Lymphopenia, and VillitisArthur Dony, Annie Buenerd, Corinne PondarrePediatrics Apr 2018, 141 (Supplement 5) S506-S509; DOI: 10.1542/peds.2016-1340
By investigating a recurrent NAIT, we report new attributes of this disease, provide novel pathophysiologic hypotheses, and indicate that this disease can be complicated by amegakaryopoiesis.
- Open AccessUnusual Presentations of Dystrophinopathies in ChildhoodNicholas M. Allen, Alice Ewer, Vasiliki Nakou, Ele Konstantoulaki, Elizabeth Wraige, Vasantha Gowda, Heinz JungbluthPediatrics Apr 2018, 141 (Supplement 5) S510-S514; DOI: 10.1542/peds.2017-2391
This case series raises awareness of atypical dystrophinopathy presentations to initiate timely diagnostic and management processes and avoid unnecessary investigations for alternative diagnoses.
- Open AccessCraniosynostosis as the Presenting Feature of X-linked Hypophosphatemic RicketsJanaki D. Vakharia, Kristal Matlock, Helena O. Taylor, Philippe F. Backeljauw, Lisa Swartz ToporPediatrics Apr 2018, 141 (Supplement 5) S515-S519; DOI: 10.1542/peds.2017-2522
With these cases, we describe primary craniosynostosis as the presenting feature of XLH and highlight that craniosynostosis can develop in infancy in children with XLH.
- Open AccessA Novel Presentation of Littoral Cell Angioma and Lymphatic Malformations in a NeonateLindsey Gakenheimer-Smith, Jeffrey Mohlman, Kate VandenHeuvel, William Daniel Jackson, William Thomsen, Adam Stevenson, Frank CiprianoPediatrics Apr 2018, 141 (Supplement 5) S520-S525; DOI: 10.1542/peds.2017-2782
We describe a novel presentation of LCA and lymphatic malformations, 2 rare vascular disorders that have never been reported in the same patient.
- Open AccessAppropriateness of Pediatrics Case Reports CitationsBryan A. Sisk, Griffin S. Collins, Claire Dillenbeck, J. Jeffrey MalatackPediatrics Apr 2018, 141 (Supplement 5) S526-S529; DOI: 10.1542/peds.2018-0277
In this article, we examine whether case reports in Pediatrics are cited appropriately or inappropriately and identify the types of articles in which these case reports are cited.