Symptom based diagnosis in pediatrics 2014

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To my wife, Kara, and my children, Siddharth, Avani, and Anika—SSS
To my wife, Zella, and her three adoring grandsons, Jack, Seneca, and Rainer—SL


CONTENTS

Contents by Diagnosis
Contributors
Preface
1

Wheezing
Dustin r. haferbecker, Evan S. Fieldston, Todd A. Florin

Case 1-1: Eight-Month-Old Girl
Case 1-2: Three-Year-Old Boy
Case 1-3: Five-Week-Old Boy
Case 1-4: Fifteen-Month-Old Girl
Case 1-5: Five-Week-Old Boy
Case 1-6: Four-Month-Old Boy
2

Decreased Activity Level

Matthew Test, Nathan Timm, Phillip Spandorfer, Megan Aylor

Case 2-1: Fifteen-Year-Old Girl
Case 2-2: Two-Week-Old Boy
Case 2-3: Three-Month-Old Girl
Case 2-4: Eleven-Month-Old Boy
Case 2-5: Nine-Year-Old Boy
Case 2-6: Twenty-Month-Old Boy
3

Vomiting
Paul L. Aronson, Todd A. Florin, Amy Feldman, Joanne N. Wood, Kamillah N. Wood

Case 3-1: Seven-Week-Old Boy
Case 3-2: Nine-Month-Old Girl
Case 3-3: Three-Year-Old Girl
Case 3-4: Ten-Year-Old Girl
Case 3-5: Four-Year-Old Girl
Case 3-6: Ten-Month-Old Girl
Case 3-7: Two-Year-Old Boy
Case 3-8: Two-Year-Old Girl
4

Cough
Debra Boyer, Stephanie Zandieh, Tregony Simoneau, Lianne Kopel, Alicia Casey, Todd A. Florin, Phuong


VO

Case 4-1: Sixteen-Year-Old Girl

Case 4-2: Seven-Week-Old Boy
Case 4-3: Seven-Month-Old Girl
Case 4-4: Three-Year-Old Boy
Case 4-5: Two-Year-Old Girl
Case 4-6: Four-Month-Old Boy
5

Back, Joint, and Extremity Pain
Megan Aylor, Sanjeev K. Swami, Maya A. Jones, Evan S. Fieldston, Pamela A. Mazzeo

Case 5-1: Two-Year-Old Boy
Case 5-2: Two-Year-Old Boy
Case 5-3: Fourteen-Year-Old Boy
Case 5-4: Sixteen-Year-Old Girl
Case 5-5: Thirteen-Year-Old Boy
Case 5-6: Nine-Year-Old Boy
6

Poor Weight Gain
Stephen Ludwig, Brandon C. KU, Sanjeev K. Swami, Maya A. Jones, Kamillah N. Wood

Case 6-1: Sixteen-Month-Old Boy
Case 6-2: Seven-Month-Old Boy
Case 6-3: Twenty-Day-Old Girl
Case 6-4: Five-Day-Old Boy
Case 6-5: Three-Month-Old Girl
Case 6-6: Twenty-One-Month-Old Boy
Case 6-7: Eighteen-Month-Old Boy
7

Abdominal Pain
Marina Catallozzi, Sanjeev K. Swami, Paul L. Aronson

Case 7-1: Thirteen-Year-Old Boy
Case 7-2: Five-Year-Old Girl
Case 7-3: Eleven-Year-Old Girl
Case 7-4: Nine-Year-Old Girl
Case 7-5: Eight-Year-Old Boy
Case 7-6: Two-Year-Old Girl
Case 7-7: Three-Year-Old Girl
8

Altered Mental Status
Nathan Timm, Jennifer L. McGuire


Case 8-1: Three-Year-Old Boy
Case 8-2: Twenty-Month-Old Boy
Case 8-3: Nine-Year-Old Boy
Case 8-4: Eight-Month-Old Boy
Case 8-5: Fourteen-Year-Old Girl
Case 8-6: Four-Year-Old Boy
9

Rash
Kara N. Shah, Kamillah N. Wood, Joanne N. Wood, Christine T. Lauren

Case 9-1: Eight-Year-Old Girl
Case 9-2: Eleven-Week-Old Girl
Case 9-3: Four-Year-Old Girl

Case 9-4: Fourteen-Year-Old Boy
Case 9-5: Sixteen-Year-Old Girl
Case 9-6: Eighteen-Month-Old Girl
10

Pallor
Stephen Ludwig, Brandon C. Ku, Maya A. Jones

Case 10-1: Three-Week-Old Boy
Case 10-2: Twelve-Month-Old Girl
Case 10-3: Five-Month-Old Boy
Case 10-4: Six-Year-Old Girl
Case 10-5: Five-Year-Old Girl
Case 10-6: Two-Year-Old Boy
11

Fever
Samir S. Shah, rebecca Tenney-Soeiro, Matthew Test

Case 11-1: Eighteen-Month-Old Girl
Case 11-2: Ten-Year-Old Boy
Case 11-3: Fourteen-Year-Old Boy
Case 11-4: Seven-Month-Old Girl
Case 11-5: Six-Year-Old Boy
12

Constipation
Heidi C. Werner, Samir S. Shah, rebecca Tenney-Soeiro, Pratichi K. Goenka

Case 12-1: Eleven-Month-Old Girl

Case 12-2: Three-Year-Old Boy
Case 12-3: Three-Month-Old Boy
Case 12-4: Twelve-Month-Old Girl


Case 12-5: Nine-Year-Old Girl
13

Neck Swelling
Stephen Ludwig, Brandon C. Ku, Paul L. Aronson, heidi C. Werner, Pratichi K. Goenka

Case 13-1: Six-Year-Old Girl
Case 13-2: Two-Year-Old Girl
Case 13-3: Two-Month-Old Boy
Case 13-4: Two-Year-Old Boy
Case 13-5: Two-and-a-Half-Year-Old Boy
Case 13-6: Sixteen-Year-Old Boy
14

Chest Pain
Debra Boyer, Lianne Kopel, Phuong VO, Pratichi K. Goenka, Alicia Casey, Tregony Simoneau

Case 14-1: Seventeen-Year-Old Boy
Case 14-2: Fifteen-Year-Old Boy
Case 14-3: Twenty-Year-Old Boy
Case 14-4: Seventeen-Year-Old Boy
Case 14-5: Three-Year-Old Girl
Case 14-6: Fifteen-Year-Old Boy
15

Jaundice
Stacey R. Rose

Case 15-1: One-Day-Old Girl
Case 15-2: Six-Week-Old Boy
Case 15-3: Eight-Year-Old Girl
Case 15-4: Nine-Day-Old Boy
Case 15-5: Twelve-Year-Old Boy
Case 15-6: Two-Month-Old Girl
16

Abnormal Gait, Including Refusal to Walk
Jeanine ronan, Amy T. Waldman

Case 16-1: Four-Year-Old Boy
Case 16-2: Three-Year-Old Boy
Case 16-3: Two-Year-Old Boy
Case 16-4: Two-Year-Old Boy
Case 16-5: One-Year-Old Boy
Case 16-6: Two-Year-Old Boy
17

Diarrhea
Christina L. Master, Amy Feldman


Case 17-1: Two-Month-Old Boy
Case 17-2: Two-Year-Old Boy
Case 17-3: Seventeen-Year-Old Boy
Case 17-4: Fifteen-Month-Old Boy

Case 17-5: Five-Year-Old Girl
Case 17-6: Two-Year-Old Boy
18

Syncope
Samir S. Shah, Gil Binenbaum

Case 18-1: Seventeen-Year-Old Girl
Case 18-2: Fifteen-Year-Old Boy
Case 18-3: Fourteen-Year-Old Boy
Case 18-4: Fourteen-Year-Old Boy
Case 18-5: Eleven-Year-Old Boy
19

Seizures
Amy T. Waldman, Matthew Test, Samir S. Shah, rebecca Tenney-Soeiro, Pratichi K. Goenka

Case 19-1: Eight-Day-Old Girl
Case 19-2: Ten-Day-Old Boy
Case 19-3: Eight-Month-Old Boy
Case 19-4: Three-Year-Old Boy
Case 19-5: Eleven-Year-Old Boy
Case 19-6: Twelve-Year-Old Boy
Index


CONTENTS BY DIAGNOSIS

Acute Cerebellar Ataxia
(Chapter 8, Case 6)

Acute Hematogenous Osteomyelitis
(Chapter 16, Case 4)
Acute Rheumatic Fever
(Chapter 5, Case 6)
Addison Disease
(Chapter 3, Case 4)
Adrenal Ganglioneuroma
(Chapter 7, Case 2)
Alagille Syndrome
(Chapter 15, Case 6)
Arteriovenous Malformation
(Chapter 2, Case 5)
Autoimmune Hemolytic Anemia
(Chapter 10, Case 3)
Autoimmune Neutropenia
(Chapter 11, Case 4)
Branchial Cleft Cyst
(Chapter 13, Case 3)
Carbon Monoxide Poisoning
(Chapter 8, Case 1)
Celiac Disease
(Chapter 6, Case 6)
Celiac Sprue
(Chapter 17, Case 5)
Child Abuse
(Chapter 2, Case 6)


Child Abuse
(Chapter 9, Case 2)

Choledochal Cyst
(Chapter 15, Case 2)
Congenital Diaphragmatic Hernia
(Chapter 1, Case 2)
Congenital Syphyllis
(Chapter 15, Case 1)
Coxsackie Hand-Foot-Mouth Disease
(Chapter 9, Case 6)
Crohn Disease
(Chapter 5, Case 4)
Cryptococcal Meningitis
(Chapter 11, Case 3)
Cystic Fibrosis
(Chapter 4, Case 5)
Cystic Fibrosis
(Chapter 6, Case 3)
Cystinosis
(Chapter 3, Case 3)
Diamond-Blackfan Anemia
(Chapter 10, Case 1)
Dietary Vitamin B12 Deficiency
(Chapter 2, Case 1)
Dilated Cardiomyopathy
(Chapter 14, Case 6)
Double Aortic Arch
(Chapter 1, Case 1)
Ectopic Thyroid/Hypothyroidism
(Chapter 12, Case 4)
Ehlers-Danlos Syndrome Type IV
(Chapter 9, Case 4)

Eikenella Corrodens Infection
(Chapter 13, Case 1)
Epstein-Barr Virus Infection
(Chapter 18, Case 1)
Epstein-Barr Virus Myocarditis
(Chapter 14, Case 3)
Fanconi Anemia
(Chapter 9, Case 1)
Galactosemia
(Chapter 15, Case 4)
Gardner Syndrome
(Chapter 17, Case 3)
Gaucher Disease Type I
(Chapter 9, Case 5)
Glucose-6-Phosphate Dehydrogenase Deficiency
(Chapter 8, Case 2)
Guillain–Barré Syndrome
(Chapter 16, Case 1)
Hemangioendothelioma
(Chapter 6, Case 4)
Hemolytic Uremic Syndrome
(Chapter 17, Case 2)
Henoch-Schönlein Purpura
(Chapter 9, Case 3)
Hepatosplenic Cat-Scratch Disease
(Chapter 19, Case 5)
Hereditary Shperocytosis
(Chapter 10, Case 4)

Hirschsprung Disease
(Chapter 3, Case 6)
Hirschsprung Disease
(Chapter 12, Case 1)


Histoplasmosis
(Chapter 11, Case 2)
Hodgin Lymphoma
(Chapter 4, Case 1)
21-Hydroxylase Deficiency
(Chapter 2, Case 2)
Hypertrophic Cardiomypathy
(Chapter 18, Case 3)
Idiopathic Dilated Cardiomyopathy
(Chapter 7, Case 4)
Ileocolic Intussusception
(Chapter 8, Case 4)
Incarcerated Inguinal Hernia
(Chapter 17, Case 1)
Infant Botulism
(Chapter 2, Case 3)
Infant Botulism
(Chapter 12, Case 3)
Infradiaphragmatic Total Anomalous Pulmonary Venous Connection
(Chapter 1, Case 5)
Intramedullary Spinal Ependymoma
(Chapter 12, Case 5)
Iron Deficiency Anemia
(Chapter 10, Case 2)

Kawasaki Disease
(Chapter 13, Case 5)
Langerhans Cell Histiocytosis
(Chapter 12, Case 2)
Lead Ingestion
(Chapter 19, Case 4)
Left Spontaneous Pneumothorax
(Chapter 14, Case 4)


Lemierre Syndrome
(Chapter 13, Case 6)
Leukemia
(Chapter 5, Case 2)
Lyme Meningitis
(Chapter 11, Case 5)
Malaria
(Chapter 15, Case 3)
Malingering
(Chapter 18, Case 4)
Malrotation
(Chapter 7, Case 5)
Measles
(Chapter 4, Case 3)
Meckel Diverticulum
(Chapter 3, Case 5)
Menetrier Disease
(Chapter 3, Case 8)
Meningitis
(Chapter 19, Case 1)

Meningococcal Meningitis and Sepsis
(Chapter 2, Case 4)
Metastatic Neuroblastoma
(Chapter 16, Case 6)
Methemoglobinemia
(Chapter 3, Case 1)
Mycobacterial Infection
(Chapter 13, Case 2)
Mycobacterium Avium Pneumonia
(Chapter 4, Case 4)
Mycoplasma Pneumoniae Encephalitis
(Chapter 8, Case 3)


Neuroblastoma
(Chapter 17, Case 4)
Neurocysticercosis
(Chapter 19, Case 6)
Neurofibromatosis Type I
(Chapter 11, Case 1)
Pertussis
(Chapter 4, Case 6)
PFAPA (Periodic Fever, Aphthous Ulcers, Pharyngitis, and Adenopathy) Syndrome
(Chapter 7, Case 7)
Pneumocystis Jiroveci Pneumonia
(Chapter 1, Case 6)
Pneumonia
(Chapter 14, Case 5)
Psychosocial Failure-to-Thrive
(Chapter 6, Case 7)

Pulmonary Sequestration
(Chapter 1, Case 3)
Pyloric Stenosis
(Chapter 6, Case 5)
Rickets
(Chapter 16, Case 5)
Rosai-Dorfman Disease
(Chapter 13, Case 4)
Sarcoidosis
(Chapter 18, Case 5)
Sclerosing Cholangitis
(Chapter 15, Case 5)
Shwachman-Diamond Syndrome
(Chapter 6, Case 2)
Sickle Cell Disease
(Chapter 5, Case 5)


Sickle Cell Disease
(Chapter 10, Case 5)
Slipped Capital Femoral Epiphysis
(Chapter 5, Case 3)
Spinal Epidural Abscess
(Chapter 5, Case 1)
Superior Mesenteric Artery Syndrome
(Chapter 7, Case 3)
Supraventricular Tachycardia
(Chapter 3, Case 2)
Systemic Juvenile Idiopathic Arthritis
(Chapter 16, Case 2)

Systemic Lupus Erythematosus
(Chapter 14, Case 1)
Toddler’s Fracture
(Chapter 16, Case 3)
Toxoplasma Gondii
(Chapter 6, Case 1)
Tracheoesophageal Fistula Without Esophageal Atresia
(Chapter 1, Case 4)
Transient Erythroblastopenia of Childhood
(Chapter 10, Case 6)
Transient Neonatal Hypoparathyroidism
(Chapter 19, Case 2)
Tricyclic Antidepressant Overdose
(Chapter 8, Case 5)
Tuberculous Pericarditis
(Chapter 14, Case 2)
Ureteropelvic Junction Obstruction
(Chapter 3, Case 7)
Ventricular Septal Defect
(Chapter 4, Case 2)


VIP-Secreting Ganglioneuroblastoma
(Chapter 17, Case 6)
Visceral Larva Migrans
(Chapter 7, Case 6)
Von Gierke Disease
(Chapter 19, Case 3)
Wilson Disease
(Chapter 7, Case 1)

Wolff-Parkinson-White Syndrome
(Chapter 18, Case 2)


CONTRIBUTORS

Paul L. Aronson, MD
Attending Physician
Section of Emergency Medicine
Yale-New Haven Children’s Hospital
Assistant Professor of Pediatrics
Yale School of Medicine
NEW HAVEN, CONNECTICUT
Chapters 3, 7, and 13
Megan Aylor, MD
Assistant Professor of Pediatrics
Oregon Health & Science University
PORTLAND, OREGON
Chapters 2 and 5
Gil Binenbaum, MD, MSCE
Assistant Professor of Ophthalmology
Children’s Hospital of Philadelphia
Perlman School of Medicine
University of Pennsylvania
PHILADELPHIA, PENNSYLVANIA
Chapter 18
Debra Boyer, MD
Assistant Professor of Pediatrics
Boston Children’s Hospital
Division of Respiratory Diseases

BOSTON, MASSACHUSETTS
Chapters 4 and 14
Alicia Casey, MD
Instructor of Medicine
Harvard Medical School
Boston Children’s Hospital
BOSTON, MASSACHUSETTS
Chapters 4 and 14


Marina Catallozzi, MD, MSCE
Assistant Professor of Pediatrics
Section of Adolescent Medicine
Division of General Pediatrics
Department of Pediatrics
Columbia University College of Physicians & Surgeons
Assistant Professor of Population and Family Health
Heilbrunn Department of Population & Family Health
Mailman School of Public Health
Columbia University
NEW YORK, NEW YORK
Chapter 7
Amy Feldman, MD
Fellow, Pediatric Gastroenterology, Hepatology, and Nutrition
Children’s Hospital Colorado
AURORA, COLORADO
Chapters 3 and 17
Evan S. Fieldston, MD, MBA, MSHP
Assistant Professor of Pediatrics
Perelman School of Medicine

University of Pennsylvania
Children’s Hospital of Philadelphia
PHILADELPHIA, PENNSYLVANIA
Chapters 1 and 5
Todd A. Florin, MD, MSCE
Assistant Professor of Pediatrics
University of Cincinnati College of Medicine
Attending Physician
Division of Emergency Medicine
Cincinnati Children’s Hospital Medical Center
CINCINNATI, OHIO
Chapters 1, 3, and 4
Pratichi K. Goenka, MD
Attending Physician
Children’s Hospital of Philadelphia
PHILADELPHIA, PENNSYLVANIA
Inpatient Care Network


University Medical Center of Princeton at Plainsboro
PLAINSBORO, NEW JERSEY
Chapters 12, 13, 14, and 19
Dustin R. Haferbecker, MD
Clinical Assistant Professor
University of Washington School of Medicine
Pediatric Hospitalist
Mary Bridge Children’s Hospital
TACOMA, WASHINGTON
Chapter 1
Maya A. Jones, MD, MPH

Fellow, Emergency Medicine
Children’s Hospital of Philadelphia
PHILADELPHIA, PENNSYLVANIA
Chapters 5, 6, and 10
Lianne Kopel, MD
Division of Respiratory Diseases
Boston Children’s Hospital
BOSTON, MASSACHUSETTS
Chapters 4 and 14
Brandon C. Ku, MD
Instructor of Pediatrics
Perelman School of Medicine
University of Pennsylvania
Attending Physician
Children’s Hospital of Philadelphia
Division of Emergency Medicine
PHILADELPHIA, PENNSYLVANIA
Chapters 6 and 13
Christine T. Lauren, MD
Assistant Professor of Clinical
Dermatology and Clinical Pediatrics
Columbia University Medical Center
Department of Dermatology
NEW YORK, NEW YORK
Chapter 9


Stephen Ludwig, MD
Professor of Pediatrics
Associate Chief Medical Officer for Education

Perelman School of Medicine
University of Pennsylvania
Division of General Pediatrics & Pediatric
Emergency Medicine
Children’s Hospital of Philadelphia
PHILADELPHIA, PENNSYLVANIA
Chapters 6, 10, and 13
Christina L. Master, MD
Associate Director
Primary Care Sports Medicine Fellowship
Attending Physician
Divisions of General Pediatrics and Orthopedics and Sports Medicine
Children’s Hospital of Philadelphia
PHILADELPHIA, PENNSYLVANIA
Chapter 17
Pamela A. Mazzeo, MD
Clinical Associate in Pediatrics
Perelman School of Medicine
University of Pennsylvania
Attending Physician
Division of General Pediatrics
Children’s Hospital of Philadelphia
PHILADELPHIA, PENNSYLVANIA
Chapter 5
Jennifer L. McGuire, MD
Instructor, Neurology
Children’s Hospital of Philadelphia
Perelman School of Medicine
University of Pennsylvania
PHILADELPHIA, PENNSYLVANIA

Chapter 8
Jeanine Ronan, MD
Assistant Professor of Clinical Pediatrics
Perelman School of Medicine


University of Pennsylvania
Co-Director, Pediatrics Clerkship
Children’s Hospital of Philadelphia
PHILADELPHIA, PENNSYLVANIA
Chapter 16
Stacey R. Rose, MD
Attending Physician
Division of General Pediatrics
Children’s Hospital of Philadelphia
PHILADELPHIA, PENNSYLVANIA
Clinical Assistant, Professor of Pediatrics
Perelman School of Medicine
University of Pennsylvania
PHILADELPHIA, PENNSYLVANIA
Chapter 15
Kara N. Shah, MD, PhD
Director, Division of Pediatric Dermatology
Cincinnati Children’s Hospital Medical Center
Associate Professor of Pediatrics and Dermatology
University of Cincinnati College of Medicine
CINCINNATI, OHIO
Chapter 9
Samir S. Shah, MD, MSCE
Director, Division of Hospital Medicine

Cincinnati Children’s Research Foundation Endowed Chair
Attending Physician in Hospital Medicine & Infectious Diseases
Cincinnati Children’s Hospital Medical Center
Professor, Department of Pediatrics
University of Cincinnati College of Medicine
CINCINNATI, OHIO
Chapters 11, 12, 18, and 19
Tregony Simoneau, MD
Division of Respiratory Diseases
Boston Children’s Hospital
BOSTON, MASSACHUSETTS
Chapters 4 and 14