Challenging Cases In Neonatology : Cases From Neoreviews. PDF
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Challenging Cases in Neonatology CASES FROM NEOREVIEWS INDEX OF SUSPICION IN THE NURSERY EDITORS DARA BRODSKY, MD, FAAP JOSEF NEU, MD, FAAP American Academy of Pediatrics Publishing Staff Mark Grimes, Vice President, Publishing Peter Lynch, Senior Manager, Digital Strategy and Product Development Evonne Acevedo, Editor, Digital Publishing Theresa Wiener, Production Manager, Clinical and Professional Publications Amanda Helmholz, Medical Copy Editor Peg Mulcahy, Manager, Art Direction and Production Mary Lou White, Chief Product and Services Officer/SVP, Membership, Marketing, and Publishing Linda Smessaert, Senior Marketing Manager, Professional Resources Published by the American Academy of Pediatrics 345 Park Blvd Itasca, IL 60143 Telephone: 847/434-4000 Facsimile: 847/434-8000 www.aap.org The American Academy of Pediatrics is an organization of 66,000 primary care pediatricians, pediatric medical subspecialists, and pediatric surgical specialists dedicated to the health, safety, and well-being of infants, children, adolescents, and young adults. The recommendations in this publication do not indicate an exclusive course of treatment or serve as a standard of medical care. Variations, taking into account individual circumstances, may be appropriate. The American Academy of Pediatrics is not responsible for the content of the resources mentioned in this publication. Web site addresses are as current as possible but may change at any time. Products are mentioned for informational purposes only. Inclusion in this publication does not imply endorsement by the American Academy of Pediatrics. Brand names are furnished for identification purposes only. No endorsement of the manufacturers or products mentioned is implied. This publication has been developed by the American Academy of Pediatrics. The authors, editors, and contributors are expert authorities in the field of pediatrics. No commercial involvement of any kind has been solicited or accepted in the development of the content of this publication. Every effort is made to keep Challenging Cases in Neonatology consistent with the most recent advice and information available from the American Academy of Pediatrics. Special discounts are available for bulk purchases of this publication. E-mail our Special Sales Department at [email protected] for more information. © 2018 American Academy of Pediatrics All rights reserved. No part of this publication may be reproduced, stored in a retrieval system, or transmitted in any form or by any means—electronic, mechanical, photocopying, recording, or otherwise—without prior permission from the publisher (locate title at http://ebooks.aappublications. org and click on © Get Permissions; you may also fax the permissions editor at 847/434-8780 or e-mail [email protected]). First edition published 2018. Printed in the United States of America 9-395 1 2 3 4 5 6 7 8 9 10 MA0855 ISBN: 978-1-61002-140-1 eBook: 978-1-61002-141-8 Library of Congress Control Number: 2017940292 Contents PREFACE .....................................................................................................................................vii PARt 1. CARdiology Case 1: Inconsolable Crying While Feeding .................................................................3 Case 2: Newborn With Inaudible Heart Sounds .........................................................9 Case 3: Noisy Breathing Since Birth .............................................................................15 Case 4: Fetal Bradycardia That Persists Postnatally ..................................................21 PARt 2. dERmAtology Case 5: Skin Rash, Poor Feeding, and Diarrhea in a 22-Day-Old Boy ..................27 Case 6: A Rash After Intensive Phototherapy ............................................................35 Case 7: Three-Week-Old With Fever and a Desquamating Rash ...........................41 Case 8: Newborn With Hemorrhagic Papulonodular Lesions ...............................49 Case 9: Term Neonate With Hypotension and Rash ................................................57 Case 10: Large Skin Defect of the Trunk Noted at Birth ............................................61 Case 11: An Infant Who Develops an Erythematous Lesion on the Cheek ...........69 Case 12: Seizure-like Symptoms in a 2-Day-Old Term Girl ......................................77 PARt 3. EndoCRinology Case 13: Five-Day-Old With Recurrent Hypoglycemia ..............................................87 Case 14: 5-Week-Old Dehydrated Infant With Increased Urine Output ...............95 Case 15: Premature Baby Girl With Ambiguous Genitalia ......................................101 Case 16: Hypoglycemia in a Term Appropriate for Gestational Age Infant .........111 Case 17: Six-Day-Old With Tachycardia and Tachypnea ........................................117 PARt 4. Fluids And ElECtRolytEs Case 18: Hypernatremia in a 2-Week-Old Preterm Infant ......................................125 PARt 5. gAstRoEntERology Case 19: Poor Feeding and Emesis in a 1-Day-Old Boy ...........................................131 Case 20: A Preterm Newborn Who Has Abdominal Ascites ..................................141 Case 21: A Preterm Girl Who Has a Distended Abdomen and Absent Bowel Sounds ......................................................................................149 Case 22: Late Preterm Infant With an Abdominal Mass .........................................155 Case 23: Coagulopathy, Hepatomegaly, and Ascites in a Term Newborn ............161 iii CONTENTS Case 24: An Extremely Low-Birthweight Infant Who Has Scrotal Discoloration .......................................................................................167 Case 25: A Newborn Who Has Cystic Structures in the Lung ...............................175 PARt 6. gEnEtiCs Case 26: Bilateral Pedal Edema in a Newborn ............................................................185 PARt 7. HEmAtology/onCology Case 27: Term Infant With Hepatosplenomegaly ......................................................193 Case 28: Blueberry Muffin Rash and Respiratory Distress in a Late-Preterm Infant ......................................................................................201 Case 29: A Newborn Who Has a Swollen Upper Extremity ...................................209 Case 30: Twins With Persistent Jaundice.....................................................................219 PARt 8. inboRn ERRoRs oF mEtAbolism Case 31: Persistent Severe Metabolic Acidosis in a Newborn ................................225 Case 32: Lethargy in a 5-Day-Old Boy .........................................................................231 Case 33: Two-Day-Old With Hypothermia and Hypoglycemia .............................235 Case 34: Lethargy, Stiffening, and Poor Feeding of Term Infant at 2½ Days of Age .................................................................................................241 Case 35: Profuse Diarrhea in a 4-Day-Old Term Boy ...............................................245 PARt 9. mAtERnAl-FEtAl mEdiCinE Case 36: Diagnostic Fetal Heart Tracing .....................................................................253 Case 37: No Visible Fetal Stomach Bubble and Elevated Amniotic Fluid Index .........................................................................................................259 PARt 10. nEPHRology Case 38: Respiratory Distress, Flaccid Abdominal Musculature, and Cryptorchidism ................................................................................................267 PARt 11. nEuRology Case 39: Hypotonia and Arthrogryposis in a Neonate .............................................277 Case 40: Two-Day-Old Newborn With Failure to Void ...........................................281 Case 41: Term Infant With Episodes of Apnea and Bradycardia ............................287 Case 42: Two-Month-Old With Episodic Body Contractions ................................293 Case 43: A Term Newborn Who Has a Sacral Mass .................................................297 Case 44: Neural Tube Defect in Infant of Epileptic Mother ....................................305 iv CONTENTS PARt 12. otolARyngology Case 45: Masses in the Oral Cavity ...............................................................................311 Case 46: Black Lesion on the Tongue ...........................................................................319 PARt 13. Pulmonology Case 47: Late Preterm Baby With Recurrent Respiratory Distress ........................327 Case 48: Persistent Tachypnea in a Newborn .............................................................333 Case 49: Persistent Hypoxemia and Pulmonary Hypertension in a 3-Day-Old Infant ..............................................................................................339 Case 50: Respiratory Compromise and Abdominal Wall Crepitus in a 3-Week-Old Infant ...........................................................................................347 Case 51: Respiratory Distress and Shock at 1 Month of Age ..................................355 PARt 14. skElEtAl systEm Case 52: 36-Week Male Infant With Skeletal Abnormalities ..................................363 indEX ........................................................................................................................................371 v This page intentionally left blank Preface We are honored to edit this first edition of Challenging Cases in Neonatology. Our motivation for creating this book was prompted by the excellent contributions pre- viously published in the Visual Diagnosis and Index of Suspicion in the Nursery sections in NeoReviews. We thought that this collection of articles would summarize the most interesting and important cases that have been published since 2004. For this book, we selected cases using the following criteria: particularly challeng- ing diagnoses, common problems with controversial treatments, and rare clinical presentations. In cases with outdated diagnostic or treatment modalities, we added commentaries to provide more-recent information from the literature. When pos- sible and if relevant, the original authors also provided updates about the clinical course of the patients. Of course, a book such as this one would not be possible without the assistance of many talented people. First, we would like to acknowledge the tremendous efforts of the authors who contributed to the original articles. We would also like to thank the following people: Alistair Philip (editor in chief of NeoReviews at the time of these publications) for his tremendous leadership, Joseph Puskarz (director of journal publishing, American Academy of Pediatrics [AAP]) for his thoughtful oversight, Luann Zanzola (managing editor, NeoReviews) for her valuable guidance, and Sara Strand and Lawanda Tucker (editorial associates, NeoReviews) for their dedication and hard work. Thanks also to Peter Lynch (manager, digital strategy and product development, AAP) and Evonne Acevedo (editor, digital publishing, AAP) for their significant contributions to the editing of this book. Finally, all this would not be possible without the strength of our patients and commitment of their families; they continue to motivate us to improve our clinical and diagnostic skills. We hope that clinicians will enjoy reading this book and will gain knowledge that might be helpful at the bedside, when they are faced with similar clinical presentations. Dara Brodsky, MD Joe Neu, MD vii This page intentionally left blank Part 1 Cardiology
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