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- •Preface
- •Contents
- •Contributors
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Diagnostic Approach Toward Fixed Drug Eruptions
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Hypereosinophilic Syndrome Treatment Options
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Differential Diagnosis
- •Clinical Case Presentation
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Discussion
- •Differential Diagnosis
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Alternative Diagnosis/Potential Misdiagnosis
- •Note
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Alternative Diagnosis/Potential Misdiagnosis
- •Note
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Alternative Diagnosis Considered/Potential Misdiagnosis
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Alternative Diagnoses
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Alternative Diagnoses
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Plan of Action, the Points Clinician Should Consider, Pitfalls to Avoid, and Pearls of Knowledge to Consider
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnoses
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Plan of Action, the Points Clinician Should Consider, Pitfalls to Avoid, and Pearls of Knowledge to Consider
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Case 1
- •Case 2
- •Differential Diagnosis
- •Discussion
- •Plan of Action, the Points Clinician Should Consider, Pitfalls to Avoid, and Pearls of Knowledge to Consider
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Plan of Action, the Points Clinician Should Consider, Pitfalls to Avoid, and Pearls of Knowledge to Consider
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Plan of Action, the Points Clinician Should Consider, Pitfalls to Avoid, and Pearls of Knowledge to Consider
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •The Plan of Action, Points to Consider, Pitfalls to Avoid, and Pearls of Knowledge
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •Clinical Case Presentation
- •Differential Diagnosis
- •Discussion
- •Conclusion
- •References
- •Introduction
- •The Lawyers Are Watching
- •Misdiagnosis Versus Missed Diagnosis
- •Prostate Cancer Misdiagnosis
- •Breast Cancer Misdiagnosis
- •Exemplar Cases
- •Cardiac Misdiagnosis
- •COVID Misdiagnosis
- •References
- •Introduction
- •Conclusion
- •References

TheMisdiagnosis
Casebook in
Clinical Medicine
ACase-Based Guide
HassaanTohid
LarryG.Baratta
HowardMaibach
Editors
123

The Misdiagnosis Casebook in Clinical Medicine

Hassaan Tohid • Larry G. Baratta
Howard Maibach
Editors
Bilal Haider Malik
Associate Editor
The Misdiagnosis Casebook
in Clinical Medicine
A Case-Based Guide

Editors
Hassaan Tohid
California Institute of Behavioral
Neurosciences and Psychology LLC
Faireld, CA, USA
Howard Maibach
University of California- San Francisco
San Francisco, CA, USA
Larry G. Baratta
Dean of Medical Education
California Institute of Behavioral
Neurosciences and Psychology LLC
Faireld, CA, USA
ISBN 978-3-031-28295-9 ISBN 978-3-031-28296-6 (eBook)
https://doi.org/10.1007/978-3-031-28296-6
© The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature
Switzerland AG 2023
This work is subject to copyright. All rights are solely and exclusively licensed by the Publisher, whether
the whole or part of the material is concerned, specically the rights of translation, reprinting, reuse of
illustrations, recitation, broadcasting, reproduction on microlms or in any other physical way, and
transmission or information storage and retrieval, electronic adaptation, computer software, or by similar
or dissimilar methodology now known or hereafter developed.
The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication
does not imply, even in the absence of a specic statement, that such names are exempt from the relevant
protective laws and regulations and therefore free for general use.
The publisher, the authors, and the editors are safe to assume that the advice and information in this book
are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the
editors give a warranty, expressed or implied, with respect to the material contained herein or for any
errors or omissions that may have been made. The publisher remains neutral with regard to jurisdictional
claims in published maps and institutional afliations.
This Springer imprint is published by the registered company Springer Nature Switzerland AG
The registered company address is: Gewerbestrasse 11, 6330 Cham, Switzerland

I dedicate this book to my wife Sidra and
daughters Ayla & Inara for their
unconditional support and love.
Dr. Hassaan Tohid
I dedicate this book to my mother Mrs. Anne
Marie Baratta and my Tita Ms. Luz
Evangelista who always offer their guidance,
counsel, wisdom, and unwavering love.
Dr. Larry G.Baratta
We dedicate this book to Dr. Howard
I.Maibach, who is an esteemed mentor and
adviser to whom we are eternally grateful.
Dr. Hassaan Tohid
Dr. Larry G.Baratta

Preface
“There is still an eraser at the end of my pencil”.
The editors felt compelled to journey down a less traveled road in medicine to
address an esoteric topic where clinicians are taciturn, which is a misdiagnosis. A misdiagnosis can result in grave consequences to the patient, their family, and the clinician.
The book addresses a vital issue by balancing practicing defensive versus dangerous
medicine. It is the rst book of its kind to take a modular approach that covers all of the
signicant elds of medicine to offer the reader a wholesome representation. Each
chapter contains evidence-based knowledge carefully chosen to depict intricate details
of typical manifestations of rare and common diseases. We have included an exceptional and dedicated chapter addressing misdiagnosis’s legal perspective.
The editors want to underscore a critical message that we are human beings
prone to making mistakes and errors. Alexander Pope, in 1711 aptly said, “To err is
human.” His words have resonated throughout history, identifying the inherent attribute of being human, that is, prone to making mistakes. One of the dividends of
striving for human perfection is recognizing one’s mistakes, accepting and correcting them, and preventing them from repeating during one’s life journey. This is why
we wanted to write this book to mitigate errors in diagnosis.
We also intend that this book will serve clinicians, practitioners, and medical
students who face the daily challenges of diagnosing complex clinical cases.
The ultimate goal is always for the patient’s benet and the preservation of their
well-being.
The editors sincerely thank Springer Nature Publishing Co. for supporting this
writing journey and making this book a reality. We are also grateful to have assembled a talented, dynamic, and passionate research and writing team represented by
esteemed faculty members and medical students who served as chapter authors.
We hope you, as a reader, will enjoy this book and use it while practicing and
providing good medicine.
Faireld, CA HassaanTohid
Faireld, CA LarryG.Baratta
San Francisco, CA HowardMaibach
vii

Contents
Part I Allergy and Immunology
1 Allergic Bronchopulmonary Aspergillosis Masquerading
as Recurrent Bacterial Pneumonia . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3
Katarzyna Karpinska-Leydier
2 Angioedema Bowel Blockade: The Misdiagnosis of Hereditary
Angioedema as a Rare Cause of Small Bowel Obstruction . . . . . . . . . 11
Arseni Khorochkov
3 Bullous Fixed Drug Eruption Due to Fluconazole Imitating
Herpes Simplex . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 19
Fatima Anwer
4 Deficiency of Adenosine Deaminase Type 2 (DADA2)
Masquerading as GATA-Binding Factor 2 (GATA2) Deficiency . . . . 25
Fatima Anwer
5 Hypereosinophilic Syndrome Misdiagnosed as Asthma . . . . . . . . . . . 31
Fatima Anwer
6 Misdiagnosis of Common Variable Immune Deficiency . . . . . . . . . . . 39
Katarzyna Karpinska-Leydier
7 Confusion of Cutaneous Reactions: A Misdiagnosis of Drug
Reaction with Eosinophilia and Systemic Symptoms (DRESS)
Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 45
Katarzyna Karpinska-Leydier
8 The Dish with the Fish: Scombroid Poisoning Misdiagnosed
as Food Allergy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 53
Arseni Khorochkov
9 Using Indirect Immunofluorescence in Unveiling Unknown
Pemphoids and Avoiding Misdiagnosis . . . . . . . . . . . . . . . . . . . . . . . . . 59
Arseni Khorochkov
ix

x
Contents
Part II Cardiology
10 Infective Endocarditis Misdiagnosed as Community-Acquired
Pneumonia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 67
Ravi Vintha and Prakrut Nishamanish Sethi
11 Cardiac Amyloidosis Misdiagnosed as Monoclonal Gammopathy
of Undetermined Significance . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 73
Shitij Shrivastava
12 Metastatic Heart Cancer Misdiagnosed as Acute Myocardial
Infarction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 79
Ravi Vintha and Prakrut Nishamanish Sethi
13 Primary Cardiac Synovial Sarcoma Misdiagnosed
as Tuberculoma . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 85
Shitij Shrivastava
14 Severe Eccentric Mitral Regurgitation Misdiagnosed
as Severe Aortic Stenosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 91
Shitij Shrivastava
Part III Emergency Department
15 A Case of Misdiagnosis of Hepatic Encephalopathy . . . . . . . . . . . . . . 99
Mohammad J. Ghosheh
16 A Case of Misdiagnosis of Rhabdomyolysis . . . . . . . . . . . . . . . . . . . . . 105
Mohammad J. Ghosheh
17 Acute Coronary Syndrome Misdiagnosed as Anxiety . . . . . . . . . . . . . 111
Alluri Vasu
18 Diabetic Neuropathy Misdiagnosed as Right Lower Limb Injury . . . 119
Alluri Vasu
19 Multiple Sclerosis Is Misdiagnosed as Migraine . . . . . . . . . . . . . . . . . 125
Alluri Vasu
Part IV Endocrinology
20 Addison’s Disease Along with Hyperkalemic Periodic Paralysis
and Acute Renal Failure Misinterpreted as Peripheral Motor
Neuropathy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 133
Bilal Haider Malik and Momina Shahid Hameed
21 Hypopituitarism Secondary to Macroadenoma with Vomiting and
Hyponatremia Misdiagnosed as Episodes of Gastritis/Esophagitis . . 139
Bilal Haider Malik and Momina Shahid Hameed

Contents
22 Hypothyroidism with Nephrotic Syndrome Misdiagnosed
as Cardiac Failure . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 145
Bilal Haider Malik and Momina Shahid Hameed
23 Adrenal Insufficiency Misdiagnosed as Syndrome
of Inappropriate ADH Secretion . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 151
Ivan Cancarevic
24 Pheochromocytoma Misdiagnosed as COVID-19 . . . . . . . . . . . . . . . . 157
Allison Foster
Part V Gastroenterology
25 Initial Misdiagnosis of Celiac Disease with Life-Threatening
Presentation . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 165
Anthony V. Baratta Jr.
26 Misdiagnosis of Colorectal Cancer with Emphysematous
Epididymo-Orchitis as a Camouflage . . . . . . . . . . . . . . . . . . . . . . . . . . 173
Akshay K. Shetty
27 Misdiagnosis of Inflammatory Bowel Disease due to Features
Similar to Granulomatosis with Polyangiitis . . . . . . . . . . . . . . . . . . . . 181
Akshay K. Shetty
xi
28 Small Bowel Carcinoma Misdiagnosed as Ileal Crohn’s Disease . . . . 189
Anthony V. Baratta Jr.
29 Foreign Body Ingestion Misdiagnosed as Irritable Bowel
Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 195
Akshay K. Shetty and Danna Soria
Part VI Gynecology
30 Hydatidiform Mole Misdiagnosed as a Threatened Abortion . . . . . . 207
Pushpa Bhatt and Revathi Myneni
31 Gestational Choriocarcinoma Misdiagnosed as Ovarian Ectopic
Pregnancy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 217
Revathi Myneni
32 Misdiagnosis of Mullerian Agenesis in a Patient with 46,
XX Gonadal Dysgenesis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 225
Revathi Myneni
33 Premature Ovarian Insufficiency: Misdiagnosis as Pregnancy . . . . . 233
Pushpa Bhatt and Revathi Myneni

xii
Contents
34 Forgotten Copper T: An Intrauterine Contraceptive Device
Misdiagnosed as Secondary Sterility . . . . . . . . . . . . . . . . . . . . . . . . . . . 241
Pushpa Bhatt and Revathi Myneni
Part VII Hematology
35 Congenital Methemoglobinemia Misdiagnosed as Polycythemia
Vera. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 249
Mohammed Mohammed
36 Thrombotic Thrombocytopenic Purpura Misdiagnosed
as Autoimmune Cytopenia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 255
Adedamola Bello
37 Hemoglobin H Disease and Vitamin B12 Deficiency
Misdiagnosed as Thrombotic Thrombocytopenic Purpura . . . . . . . . 261
Adedamola Bello
38 Hepatoerythropoietic Porphyria Misdiagnosed as Child Abuse. . . . . 267
Mohammed Mohammed
39 Hereditary Spherocytosis Misdiagnosed as Glucose-6-Phosphate
Dehydrogenase Deficiency . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 275
Adedamola Bello
40 Inherited Thrombocytopenia Misdiagnosed as Myelodysplastic
Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 283
Mohammed Mohammed
Part VIII Infectious Diseases
41 Hematogenous Disseminated Tuberculosis Misdiagnosed
as Metastatic Lung Cancer
. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 293
Akhil Ansary
42 Severe Abdominal Sepsis Misdiagnosed as Pelvic Inflammatory
Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 301
Srushti Shahi
43 Syphilitic Uveitis Misdiagnosed as Viral Retinitis . . . . . . . . . . . . . . . . 313
Akhil Ansary
44 Human Immunodeficiency Virus (HIV) Misdiagnosed
as Pharyngitis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 319
Sirving Keli
45 Early Lyme Disease Misdiagnosed as Influenza . . . . . . . . . . . . . . . . . 329
Sirving Keli
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