Challenging Cases in Pediatric Diagnosis: Cases from Pediatrics in Review Index of Suspicion and Visual Diagnosis

569 Pages·2016·15.206 MB·English

by  Deepak Kamat, M.D. Ph.D., Deepak M. Kamat

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journal’s editors have selected their “top 100” cases to create a fascinating new us i INDEX OF SUSPICION AND VISUAL DIAGNOSIS
collection that serves as a valuable reference and learning tool for pediatricians, p a
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Learn how to eff ectively diagnose and treat various diagnostic challenges and n D EDITOR
improve patient care with this evidence-based reference tool. d
V ia DEEPAK KAMAT, MD, PhD, FAAP
Case topics include isu g
• Autoimmune • Infectious diseases a n
• Behavioral • Nephrology l D o
• Cardiology • Neurology ia s
• Dermatology • Pulmonology g i
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• Emergency medicine • Obstetrics and gynecology o
• Endocrinology • Ophthalmology si
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• Gastrointestinal • Orthopedics
• Genetics • Surgery
• Hematology/oncology • Urology
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For other pediatric resources, visit the A
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AAP
Challenging Cases in
Pediatric Diagnosis
CASES FROM PEDIATRICS IN REVIEW
INDEX OF SUSPICION AND VISUAL DIAGNOSIS
EDITOR
DEEPAK KAMAT, MD, PhD, FAAP
American Academy of Pediatrics Publishing Staff
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Published by the American Academy of Pediatrics
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First edition published 2016.
Printed in the United States of America
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MA0749
ISBN: 978-1-61002-016-9
eBook: 978-1-61002-017-6
Library of Congress Control Number: 2015956184
Contents
PREFACE ......................................................................................................................................ix
PART 1. AUTOIMMUNE
Chapter 1. Growth Failure and Diarrhea in a 6-Week-Old ........................................3
Chapter 2. Fever, Diarrhea, and Rash in a 9-Month-Old Boy ....................................9
Chapter 3. Recurrent Fevers in a 10-Year-Old Girl ....................................................13
Chapter 4. Increasing Fatigue, Dyspnea on Exertion, and a 3.6-kg Weight
Loss in a 14-Year-Old Boy ...........................................................................19
Chapter 5. Right-Sided Lower Back and Lower Quadrant Abdominal Pain
and Intermittent Hematuria .......................................................................25
Chapter 6. High Temperature, Vomiting, Facial Pain, and Congestion
in a 16-Year-Old Girl ....................................................................................29
Chapter 7. Fever, Neck Swelling, and Weight Loss in a 17-Year-Old Boy .............33
PART 2. BEHAVIORAL
Chapter 8. Daily Paroxysmal Episodes in a 1-Year-Old Girl ....................................39
Chapter 9. Pain, Swelling, and Redness of Left Leg in a 17-Year-Old Girl ............43
PART 3. CARDIOLOGY
Chapter 10. 5-Day-Old Girl With Labored Breathing and Fast-Beating Heart ......49
Chapter 11. Chest Pain in a Boy With Duchenne Muscular Dystrophy and
Cardiomyopathy (Visual Diagnosis) .........................................................53
Chapter 12. Palpitations and Dizziness in an Adolescent Boy...................................59
PART 4. DERMATOLOGY
Chapter 13. Erythematous Papulovesicular Rash in a 3-Month-Old Girl ...............65
Chapter 14. Irritability, Vomiting, and a Mildly Reddened Right Eye in a
6-Month-Old Girl .........................................................................................71
Chapter 15. A 7-Month-Old Who Has a Persistent Rash (Visual Diagnosis) ........75
Chapter 16. Perinasal and Perioral Rash in a 2-Year-Old Girl ...................................83
Chapter 17. 5-Year-Old Girl Waking in Morning With Spots of Blood on
Her Pillow and Sheets ..................................................................................89
Chapter 18. Ecchymotic Lesions on the Backs of Asian Boys ....................................95
Chapter 19. Petechial Lesions on Toes of an 11-Year-Old Girl ..................................99
Chapter 20. 13-Year-Old Girl With Pink Papules (Visual Diagnosis) .....................103
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CONTENTS
Chapter 21. Anterior Chest Pain, Daily Low-grade Fevers, and Worsening
Acne in a 14-Year-Old Boy ........................................................................109
Chapter 22. Rash, Eye Pain, and Lesions in an Adolescent
(Visual Diagnosis) .......................................................................................113
PART 5. EMERGENCY MEDICINE
Chapter 23. 7-Year-Old Girl Passing Red Urine..........................................................125
PART 6. ENDOCRINOLOGY
Chapter 24. Seizure in an 8-Month-Old Boy...............................................................131
Chapter 25. 12.7-kg Weight Gain in 7 Months and Recurrent Fevers ...................135
Chapter 26. 6-Year-Old Boy With Delayed Walking and Partial
Primary Dentition .......................................................................................141
Chapter 27. 15-Year-Old Girl With No Menstrual Periods for 7 Months .............145
Chapter 28. 16-Year-Old Girl Who Has Not Achieved Menarche .........................149
PART 7. GASTROINTESTINAL
Chapter 29. Hematochezia in a Neonate ......................................................................157
Chapter 30. 2-Month-Old Boy With 6-Day History of Increasing
Irritability, High-pitched Cry, and Nonbloody,
Nonbilious Vomiting ..................................................................................161
Chapter 31. 3-Month-Old Boy Admitted for Poor Feeding and a
Distended Abdomen ..................................................................................165
Chapter 32. 2-Year-Old Boy With “Yellow Eyes” and Dark-Colored Urine ..........171
Chapter 33. Intermittent Epigastric Pain, Nausea, and Vomiting With
Progressive Abdominal Distension in a 4-Year-Old Boy ....................175
Chapter 34. 14-Year-Old Girl Experiencing Vomiting, Abdominal Pain,
and Weight Loss Over the Past 11 Months ...........................................181
Chapter 35. Ecchymoses on Legs and Refusal to Walk in a 16-Year-Old Boy
With Autism ................................................................................................185
Chapter 36. Lactic Acidosis and Cardiovascular Collapse in an Adolescent
With Ulcerative Colitis ..............................................................................189
PART 8. GENETICS
Chapter 37. A Male Neonate Who Has a White Hair Tuft and
Hypopigmented Macules (Visual Diagnosis) ........................................195
Chapter 38. Infant With Growth Failure, Body Asymmetry, and
Dysmorphic Features (Visual Diagnosis) ...............................................201
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CONTENTS
Chapter 39. Large Stature in 13-Year-Old Boy ............................................................211
Chapter 40. Prolonged Generalized Seizure and Progressive Lethargy in
a 15-Year-Old Boy .......................................................................................215
PART 9. HEMATOLOGY AND O NCOLOGY
Chapter 41. 4-Month-Old With Severe Rash Over Face and Hands ......................225
Chapter 42. Fever, Rash, and Decreased Oral Intake in a 10-Month-Old Boy .....229
Chapter 43. Acute Urinary Retention in a 13-Month-Old Boy ...............................235
Chapter 44. 4-Year-Old Girl With Intermittent Abdominal Pain for
3 Months, Difficulty Passing Stools for 2 Weeks, and
Intermittent Vomiting for 2 Days ............................................................239
Chapter 45. Fever and Multiple Ruptured Bullae in a 6-Year-Old Boy
(Visual Diagnosis) .......................................................................................245
Chapter 46. Bilateral Hip and Lower Back Pain in a 9-Year-Old Girl .....................253
Chapter 47. Epistaxis and Melena in a 9-Year-Old Boy .............................................257
Chapter 48. Fever and Changes in Mental Status in a 12-Year-Old Girl ...............261
Chapter 49. 13-Year-Old Boy With a Lump on His Back ..........................................267
Chapter 50. Epistaxis in a 15-Year-Old Boy .................................................................271
Chapter 51. Acute Shortness of Breath and Coughing Up Blood in a
16-Year-Old Girl ..........................................................................................275
Chapter 52. Abdominal Pain in a 16-Year-Old Girl ...................................................279
Chapter 53. Painless, Intermittent Vaginal Spotting in a 16-Year-Old Girl .........285
Chapter 54. Left Arm Swelling and Pain in a 17-Year-Old Boy ...............................289
Chapter 55. Blue Skin Discoloration, Headache, and Difficulty Breathing
in an 18-Year-Old Girl ................................................................................293
PART 10. INFECTIOUS DISEASES
Chapter 56. 2-Week-Old Has a Red, Peeling Rash (Visual Diagnosis) ...................299
Chapter 57. Evaluation of Eosinophilia, Loose Stools, and Low-grade
Fever in a 3½-Year-Old Boy ......................................................................307
Chapter 58. Sore Throat and Difficulty Swallowing in a 9-Year-Old Boy
(Visual Diagnosis) .......................................................................................311
Chapter 59. Sore and Stiff Neck, Jaw Pain, Drooling, Difficulty Swallowing,
and Stiffness of Right Leg in a 9-Year-Old Boy .....................................315
Chapter 60. Right Ankle Pain in an 11-Year-Old Girl ................................................321
Chapter 61. 16-Year-Old Boy With Severe Pain in Right Knee ...............................327
Chapter 62. 16-Year-Old Girl With Generalized Seizures ........................................333
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CONTENTS
Chapter 63. Rash and Headache in a Wrestler ............................................................339
Chapter 64. Congenitally Deaf 17-Year-Old Boy With a 1-Year History of
a Rash ............................................................................................................343
PART 11. NEPHROLOGY
Chapter 65. Urinary Frequency in a 6-Year-Old Boy .................................................349
Chapter 66. Severe, Sudden, Bilateral, Throbbing Headaches in an
11-Year-Old ..................................................................................................353
Chapter 67. Fatigue, Weakness, Body Aches, and Metabolic Alkalosis
in a 15-Year-Old Boy ..................................................................................357
PART 12. NEUROLOGY
Chapter 68. 5-Week-Old Boy With 2 Days of Coughing That Worsens
After Feeding ...............................................................................................363
Chapter 69. Poor Weight Gain in a 14-Month-Old Boy ...........................................367
Chapter 70. Seizurelike Activity Precipitated by Loud Noise in a 2-Year-Old .....373
Chapter 71. 6-Year-Old Boy With Leg Pain During Times of Inactivity ................379
Chapter 72. Increasing Knee and Back Pain in a 6-Year-Old Boy ...........................383
Chapter 73. Vomiting, Unsteadiness, Vision Problems, and
Unresponsiveness in a 10-Year-Old Boy ................................................389
Chapter 74. Weakness and Inability to Walk in an 11-Year-Old Boy .....................393
Chapter 75. Excessive Nighttime Eating in a 14-Year-Old Boy ...............................399
Chapter 76. Intermittent Swelling and Arm Pain for 2 Years in an
Adolescent Girl............................................................................................403
PART 13 . PULMONOLOGY
Chapter 77. 2-Month-Old Girl With Protrusion in Neck When Crying ...............409
Chapter 78. 18-Month-Old Girl With Intermittent Fevers, 2.27-kg Weight
Loss, and Mild Respiratory Distress .......................................................415
Chapter 79. 2½-Year-Old Girl Who Has Cough and Right Pulmonary
Abnormalities ..............................................................................................419
Chapter 80. Shortness of Breath and Wheezing in a 9-Year-Old Chinese Girl ....425
Chapter 81. Wet, Mucous Cough for Years in a 12-Year-Old Girl ..........................431
Chapter 82. Chest Pain and Shortness of Breath in a 15-Year-Old Boy .................437
Chapter 83. Hemoptysis of 1½ Years Duration in a 15-Year-Old Girl ....................441
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CONTENTS
PART 14. OBSTETRICS AND GYNECOLOGY
Chapter 84. Newborn Girl With a Mass Protruding From Her Introitus..............447
Chapter 85. Episodic Lower Abdominal Pain in an 11-Year-Old Girl ....................451
PART 15. OPHTHALMOLOGY
Chapter 86. 18-Month-Old Girl With Esotropia of the Left Eye .............................457
Chapter 87. Eye Swelling, Redness, Discharge, and Pain With
Movement in a 13-Year-Old Boy .............................................................461
Chapter 88. Abnormal Eyelashes in 17-Year-Old Boy Who Has
Congenital Heart Disease ..........................................................................465
Chapter 89. 18-Year-Old Girl With Pain, Redness, and Photophobia
in Left Eye for 1 Week ................................................................................469
PART 16. ORTHOPEDICS
Chapter 90. Bowlegs in a 2-Year-Old Girl ....................................................................475
Chapter 91. Intermittent Groin Pain in a 5-Year-Old Boy ........................................481
Chapter 92. Swelling Behind the Knee in a 15-Year-Old Boy ..................................485
PART 17. SURGERY
Chapter 93. An 11-Month-Old With Nausea, Vomiting, and an
Abdominal Mass (Visual Diagnosis) .......................................................491
Chapter 94. Intermittent Swelling and Bleeding From the Gums in a
3-Year-Old Girl ............................................................................................499
Chapter 95. Sharp, Right-Sided Abdominal Pain in an 8-Year-Old Boy ................503
Chapter 96. Severe Right Lower Quadrant Colicky Pain and Mild
Right-Sided Flank Pain in an 8-Year-Old Girl .......................................507
Chapter 97. 11-Year-Old Boy With Pain in the Left Lower Quadrant
of His Abdomen, Radiating to His Back .................................................513
Chapter 98. Sudden, Sharp Left Upper Quadrant Abdominal Pain,
Nausea, and Vomiting in an 11-Year-Old Girl ......................................517
PART 18. UROLOGY
Chapter 99. Scrotal Swelling in a 7-Year-Old Boy ......................................................525
Chapter 100. Persistent Flank Pain and Voiding Dysfunction in an
11-Year-Old Boy ..........................................................................................529
INDEX ........................................................................................................................................535
vii

Preface
It is with great honor and immense pleasure I present to you Challenging Cases in
Pediatric Diagnosis. I am indebted to Lawrence Nazarian, MD, FAAP, former editor in
chief of Pediatrics in Review, for appointing me editor for the Index of Suspicion section
of Pediatrics in Review. He is an outstanding mentor and great role model.
In this book, we present 90 cases from Index of Suspicion and 10 cases from Visual
Diagnosis that have been published since the year 2000. My sincere thanks to Joseph
Zenel, MD, FAAP, editor in chief, and Hugh Allen, MD, deputy editor, Pediatrics in
Review, for helping me select the 10 cases from Visual Diagnosis that have been included.
Since the year 2000 through 2014, 574 cases have been published in Index of Suspicion
and 70 cases, in Visual Diagnosis. The Index of Suspicion cases that I selected were ones
that I believed to be true diagnostic challenges, in that they covered either rare condi-
tions or unusual clinical manifestations of common conditions. We have presented cases
as they were originally published in Pediatrics in Review. Because some of the cases were
published as early as 2000, wherever we felt that the information regarding evaluation or
management of a particular case or condition may have been outdated, we sought expert
input to update the information; the expert comments are published immediately follow-
ing the case.
During the 6 years in which I have served as editor for the Index of Suspicion, I have had
the pleasure of interacting with large numbers of medical students, residents, fellows,
practicing pediatricians, faculty in academic institutions at all levels in their careers, and
nurse practitioners from all over the world. The quality of writing and scientific content
of cases submitted has been very variable, and it has been a gratifying experience mento-
ring the “inexperienced” writers and creating a wonderful educational product.
As Dr Nazarian said in his introduction to Challenges in Pediatric Diagnosis (the book
that inspired this one), we, the physicians, learn best from our experiences and inter-
actions with our patients. I hope this book will be useful to both the learners and train-
ers at all levels of clinical practice and training to provide the best possible care to our
patients.
My sincere thanks to Mr Peter Lynch, manager, digital strategy and product develop-
ment, American Academy of Pediatrics, for helping me put together the book. I wish to
thank Dr Joseph Zenel, editor in chief, Pediatrics in Review; Ms Luann Zanzola, man-
aging editor, Pediatrics in Review; and Ms Sara Strand, editorial associate, Pediatrics in
Review, for their support and encouragement. I could not have done this without the
support of my wife, Dr Ambika Mathur, and my children, Amol and Aarti, for putting up
with me as I worked late nights and weekends, editing to meet the deadlines for finaliz-
ing the cases for publication. I would like to extend my sincere thanks to all the authors
for submitting their interesting and challenging cases so that we can all learn from their
experiences.
And, finally, I would like express my sincere gratitude to all our patients and their fami-
lies for teaching us so that we can be better at what we do: take care of children.
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