Symptom based diagnosis in pediatrics 2014

Fieldston, MD, MBA, MSHP Assistant Professor of Pediatrics Perelman School of Medicine University of Pennsylvania Children’s Hospital of Philadelphia PHILADELPHIA, PENNSYLVANIA Chapters

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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

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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

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Case 4-1: Sixteen-Year-Old Girl

Case 4-2: Seven-Week-Old Boy

Case 4-3: Seven-Month-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 5-3: Fourteen-Year-Old Boy

Case 5-5: Thirteen-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

8 Altered Mental Status

Nathan Timm, Jennifer L McGuire

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Case 8-2: Twenty-Month-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 9-6: 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

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 11-4: 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 12-3: Three-Month-Old Boy

Case 12-4: Twelve-Month-Old Girl

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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 13-3: Two-Month-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

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 16-5: One-Year-Old Boy

17 Diarrhea

Christina L Master, Amy Feldman

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Case 17-1: Two-Month-Old Boy

Case 17-4: Fifteen-Month-Old Boy

18 Syncope

Samir S Shah, Gil Binenbaum

Case 18-1: Seventeen-Year-Old Girl

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 19-5: Eleven-Year-Old Boy

Case 19-6: Twelve-Year-Old Boy

Index

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Eikenella Corrodens Infection

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Sickle Cell Disease

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Paul L Aronson, MD

Attending Physician

Section of Emergency Medicine

Yale-New Haven Children’s HospitalAssistant Professor of PediatricsYale School of Medicine

Gil Binenbaum, MD, MSCE

Assistant Professor of OphthalmologyChildren’s Hospital of PhiladelphiaPerlman School of Medicine

Harvard Medical School

Boston Children’s Hospital

BOSTON, MASSACHUSETTS

Chapters 4 and 14

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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

Evan S Fieldston, MD, MBA, MSHP

Perelman School of Medicine

University of Pennsylvania

Children’s Hospital of Philadelphia

PHILADELPHIA, PENNSYLVANIA

Chapters 1 and 5

Todd A Florin, MD, MSCE

University of Cincinnati College of Medicine

Attending Physician

Division of Emergency Medicine

Cincinnati Children’s Hospital Medical Center

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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

Fellow, Emergency Medicine

Chapters 5, 6, and 10

Lianne Kopel, MD

Division of Respiratory Diseases

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

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Stephen Ludwig, MD

Professor of Pediatrics

Associate Chief Medical Officer for Education

Clinical Associate in Pediatrics

Attending Physician

Chapter 5

Jennifer L McGuire, MD

Instructor, Neurology

Chapter 8

Jeanine Ronan, MD

Assistant Professor of Clinical Pediatrics

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Co-Director, Pediatrics Clerkship

Chapter 16

Stacey R Rose, MD

Attending Physician

Clinical Assistant, Professor of Pediatrics

Chapter 15

Kara N Shah, MD, PhD

Director, Division of Pediatric Dermatology

Cincinnati Children’s Hospital Medical Center

Associate Professor of Pediatrics and Dermatology

CINCINNATI, OHIO

Chapter 9

Samir S Shah, MD, MSCE

Director, Division of Hospital Medicine

Cincinnati Children’s Research Foundation Endowed ChairAttending Physician in Hospital Medicine & Infectious DiseasesCincinnati Children’s Hospital Medical Center

Professor, Department of Pediatrics

CINCINNATI, OHIO

Chapters 11, 12, 18, and 19

Tregony Simoneau, MD

Chapters 4 and 14

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Phillip Spandorfer, MD

Assistant Professor

Division of Infectious Diseases

Nemours/Alfred I duPont Hospital for Children

WILMINGTON, DE

Clinical Assistant Professor

Jefferson Medical College

Rebecca Tenney-Soeiro, MD

Assistant Professor of Clinical Pediatrics

Matthew Test, MD

Division of Hospital Medicine

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Chapters 4 and 14

Amy T Waldman, MD, MSCE

Assistant Professor of Neurology

Chapters 3 and 9

Kamillah N Wood, MD, MPH

Assistant Professor, Pediatrics

George Washington University School of Medicine and Health Sciences

WASHINGTON, DC

Stephanie Zandieh, MD, MS

Assistant Professor

Division of Pediatric Pulmonology

NYU Langone Medical Center

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NEW YORK, NEW YORK

Chapter 4

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By understanding what happens in individual cases, one is able to generalize to similar situationsand incorporate basic principles into practice We are taught the classic signs and symptoms of

innumerable diseases and disorders in the course of our medical training to develop skills in patternrecognition From repetitive review of these patterns, we learn the elements of these common

conditions As the stages of medical education advance, one becomes more oriented to the

expectations and, ultimately, exceptions in these routine patterns It is appreciating the occurrence ofdeviations from this pattern, however minor, that leads to more advanced diagnostic skills The astutephysician detects variance from the typical pattern to make the more unusual or exceptional diagnosis

In the education of pediatric house officers at the Children’s Hospital of Philadelphia, there is atradition of special rounds for the senior residents The senior rounds are organized and conducted bythe chief residents and supported by the faculty It is within the context of these educational seminarsthat our residents are able to move and mature from pattern recognition to pattern deviation We hopethat in this effort they will move from good pediatricians to exceptional pediatricians

This book represents a collection of many of those cases presented at the Children’s Hospital ofPhiladelphia senior rounds Most cases start with common complaints on the part of the child or

parent The cases presented in this text have common complaints, but, despite the protean presentingsigns and symptoms, evolve into challenging diagnostic dilemmas Each chapter in this book beginswith a definition of a complaint, exploration of associated signs and symptoms that bring the patient tothe physician, and discussion of questions associated with the complaint The chapters then include aseries of cases, each with twists and turns, that illustrate how to identify which children with commonpresenting complaints may have unusual or uncommon conditions The cases are accompanied byclinical or radiologic images to enhance learning and retention Following each case presentation,there is discussion of a broad differential diagnosis, commentary about which particular elements ofthat case led to the final diagnosis, and detailed discussion about the diagnosis in question, includingepidemiology, signs and symptoms, diagnostic evaluation, and treatment

For the book to be enjoyed most, we suggest the reader review each case and try to arrive at his orher own differential diagnosis and plan of evaluation, then read on and find out how the “mystery”was solved An alternate way to use this book is to conduct your own group discussion or seniorrounds by having one member of the group present a case and lead a discussion while using the text tofacilitate dialogue

Samir S Shah Stephen Ludwig

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CHAPTER 1 WHEEZING

DUSTIN R HAFERBECKER

DEFINITION OF THE COMPLAINT

Noisy breathing in infants is a common presenting complaint The first step toward formulating adifferential diagnosis is to characterize the type of sound heard Stertor, a low-pitched rattling

inspiratory noise, is caused by obstruction of airway above the level of the larynx It is frequentlyheard in infants with nasal congestion and is often of little consequence Stridor, a harsh, high-pitchedrespiratory sound typically heard on inspiration, often indicates laryngeal obstruction Wheezing, amusical sound heard on expiration, is caused by partial obstruction of the lower airway In youngchildren, sometimes expiratory noises cannot be easily distinguished from inspiratory ones, and attimes both may be present Among these causes of noisy breathing, wheezing is the most common ofclinical significance

COMPLAINT BY CAUSE AND FREQUENCY

The causes of wheezing in childhood vary by age (Table 1-1) and may also be grouped in categoriesbased on the following criteria: (1) Anatomic (extrinsic or intrinsic to the airway), (2)

Inflammatory/Infectious, (3) Genetic/Metabolic, or (4) Miscellaneous causes (Table 1-2)

TABLE 1-1 Cause s of whe e zing in childhood by age

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TABLE 1-2 Causes of wheezing in childhood by mechanism.

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CLARIFYING QUESTIONS

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A thorough study of the child’s history is essential to arrive at an accurate diagnosis in a child whopresents with wheezing Consideration of age at onset, course and pattern of illness, and associatedclinical features provides a useful framework for creating a differential diagnosis The followingquestions may help provide clues to the diagnosis:

• What was the age at onset of wheezing?

—Onset at birth or during early infancy suggests congenital structural abnormalities Congenitaldiaphragmatic hernias are usually detected on prenatal ultrasound Vascular rings and aberrantvessels can cause wheezing or other respiratory symptoms early in life Infants <2 years of age aremore susceptible to lower respiratory infection, such as bronchiolitis, whereas adolescents are

more likely to have asthma or infection caused by atypical bacteria, such as Mycoplasma

pneumoniae.

• Is the wheezing a new onset or recurrent?

—The initial episode of wheezing in a previously healthy infant in conjunction with symptoms ofupper respiratory tract infection usually indicates bronchiolitis A sudden onset of wheezing is alsocharacteristic of anaphylaxis; particularly in the presence of urticaria, stridor, or pertinent

environmental exposures Recurrent episodes of wheezing may suggest gastroesophageal reflux.However, if precipitated by upper respiratory infections, recurrent wheezing may suggest reactiveairways disease Recurrent wheezing or “difficult to control asthma” should lead to a consideration

of cystic fibrosis, immotile cilia syndrome, recurrent aspiration, immune deficiency, or anatomicabnormalities

• Is the wheezing episodic or persistent?

—Persistent wheezing suggests mechanical obstruction from a variety of causes, such as airwayforeign body, congenital airway narrowing, or external compression by a mediastinal mass or

vascular anomaly

• Was the episode of wheezing preceded by choking or gagging?

—Aspiration of a foreign body is sometimes associated with the sudden onset of symptoms aftergagging or choking Foreign body aspiration is most common in children between the ages of 1 and

4 years Symptoms depend on the size and location of the foreign body The wheezing may be

unilateral and secondary bacterial infection may occur

• Was the wheezing preceded by upper respiratory tract infection?

—Antecedent upper respiratory tract infection is suggestive of an underlying inflammatory or

infectious etiology

• What is the child’s weight and height?

—Features suggestive of cystic fibrosis include failure to thrive, steatorrhea, or recurrent

infections

• Is there a history of recurrent bacterial infection?

—Children with cystic fibrosis often have recurrent respiratory tract infections Ciliary dyskinesis

is associated with frequent cough, sinusitis, and otitis media

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• Is there a history of preterm birth or did the child require mechanical ventilation or prolonged

supplemental oxygen after birth?

—Bronchopulmonary dysplasia chronic lung disease of prematurity should be considered

• Are there allergic shiners, Dennie lines, nasal crease, or atopic dermatitis?

—The presence of atopy increases the likelihood of asthma

• Are symptoms exacerbated by feeding?

—Gastroesophageal reflux and tracheoesophageal fistula should be considered H-type

tracheoesophageal fistulas may not be accompanied by esophageal atresia

• Was the mother tested for sexually transmitted diseases during pregnancy?

—Chlamydia trachomatis pneumonia may present during the second month of life with nonpurulent

conjunctivitis, wheezing, and pneumonia without fever

• Is there a family history of wheezing or asthma?

—A family history of asthma in either or both parents increases the risk of the patient having asthma

to 2-3 times above the baseline prevalence

SUGGESTED READING

1 Bjerg A, Hedman L, Perzanowski MS, et al Family history of asthma and atopy: in-depth

analyses of the impact on asthma and wheeze in 7- to 8-year-old children Pediatrics

HISTORY OF PRESENT ILLNESS

The patient was an 8-month-old girl who presented to the emergency department for the third

consecutive day with parental complaints of wheezing and cough Two days prior to admission shewas examined in the emergency department, diagnosed with bronchiolitis and otitis media and

discharged on amoxicillin, nebulized albuterol, and prednisolone One day prior to admission, shewas again evaluated in the emergency department for continued wheezing and cough which improvedwith nebulized albuterol A chest radiograph demonstrated hyperinflation and peribronchiolar

thickening There was no cardiomegaly or pleural effusion On the day of admission, her cough wasaccompanied by two episodes of perioral cyanosis She had decreased oral intake and urine outputand was febrile to 39.7°C at home

MEDICAL HISTORY

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The girl’s history was remarkable for frequent episodes of wheezing since 5 months of age She hadreceived nebulized albuterol intermittently, including every 4 hours for the past month, without

significant improvement in her wheezing Her cough was worse at night but did not seem to be worsewith feeding or supine positioning Her birth history was unremarkable and the prenatal ultrasoundwas reportedly normal

PHYSICAL EXAMINATION

T 38.3°C; RR 60/min; HR 110 bpm; BP 110/55 mmHg; SpO2 100% in room air

Height 25th percentile; Weight 25th percentile; Head circumference 25th percentile

Initial examination revealed a well-nourished, acyanotic infant in moderate respiratory distress

Physical examination was remarkable for purulent rhinorrhea and buccal mucosal thrush Moderateintercostal and subcostal retractions were present There was fair lung aeration with diffuse

expiratory wheezing No murmurs or gallops were heard on cardiac examination and femoral pulseswere palpable No hepatomegaly or splenomegaly was present

DIAGNOSTIC STUDIES

Laboratory analysis revealed 14 600 white blood cells/mm3 with 38% segmented neutrophils, 53%lymphocytes, and no band forms The hemoglobin was 11.0 g/dL and there were 580 000

platelets/mm3 Electrolytes, blood urea nitrogen, and creatinine were normal Polymerase chain

reaction performed on nasopharyngeal aspirate was negative for Bordetella pertussis Antigens of

adenovirus, influenza A and B viruses, parainfluenza virus types 1, 2, and 3, and respiratory syncytialvirus were not detected by immunofluorescence of nasopharyngeal washings However, respiratorysyncytial virus subsequently grew in viral culture of the nasopharyngeal aspirate Blood and urinecultures were subsequently negative

COURSE OF ILLNESS

The patient was diagnosed with bronchiolitis, and her tachypnea and wheezing improved over time.She was treated with nebulized albuterol and oral prednisolone, with unclear benefit She was

discharged after 3 days of hospitalization, receiving albuterol every 4 hours as needed A

radionuclide milk scan was scheduled on an outpatient basis to assess the presence of

gastroesophageal reflux and pulmonary aspiration

Ten days later the patient returned to the emergency room with increased wheezing and recurrence

of fever She had poor oral intake which had not improved significantly since the last admission andwas now accompanied by frequent emesis She was admitted for treatment and further evaluation Herradionuclide milk scan which had been performed between admissions revealed gastroesophagealreflux without pulmonary aspiration During her current admission, careful examination of the chestradiograph suggested the diagnosis (Figures 1-1A and B) Magnetic resonance imaging (MRI) of thechest confirmed this diagnosis (Figure 1-1C)

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FIGURE 1-1 A Antero-posterior chest radiograph B Lateral chest radiograph C Chest MRI.

DISCUSSION CASE 1-1

DIFFERENTIAL DIAGNOSIS

The causes of recurrent or persistent wheezing in infant are diverse Common causes of recurrentwheezing in infancy include bronchiolitis, reactive airways disease, and gastroesophageal reflux withmicroaspiration Less commonly, recurrent wheezing is caused by congenital abnormalities of thelung or respiratory tract (congenital cystic adenomatous malformations, tracheoesophageal fistula),diaphragmatic abnormalities (paralysis of the diaphragm, congenital diaphragmatic hernia), cysticfibrosis, or immunologic defects (congenital absence of thymus, DiGeorge syndrome or other 22q11deletion syndromes, chronic granulomatous disease, gamma globulin deficiencies) Rarely, anomalies

of the major arterial branches of the aorta or pulmonary blood vessels may compress the trachea andbronchi of the infant causing acute or progressive respiratory distress The features of this case whichprompted additional evaluation included recurrent episodes of wheezing, incomplete resolution of

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wheezing despite prolonged beta-agonist therapy, and episodes of cyanosis.

DIAGNOSIS

The chest radiographs revealed a midline trachea with bilateral indentations in the anteroposteriorprojection (Figure 1-1A, arrows) and anterior bowing of the trachea on the lateral projection (Figure1-1B) These findings suggested the diagnosis of double aortic arch MRI of the chest showed thebifurcation of this double arch as the “horseshoe” structure surrounding the trachea in the center of theimage (Figure 1-1C) There were no associated structural defects of the heart The diagnosis is

double aortic arch.

INCIDENCE AND ANATOMY OF VASCULAR RINGS AND SLINGS

Vascular anomalies, commonly referred to “vascular rings and slings,” can cause tracheal or

esophageal compression leading to respiratory symptoms or feeding difficulty The term vascular ring refers to any aortic arch anomaly in which the trachea and esophagus are completely surrounded

by vascular structures The vascular structures do not have to be patent For example, a ligamentumarteriosum may complete a ring A vascular or pulmonary sling refers to an anomaly in which

vascular structures only partially surround the lower trachea but cause tracheal compression

Vascular rings are seen in less than 1% of congenital cardiac anomalies

The most commonly occurring rings and slings are depicted in Figure 1-2

FIGURE 1-2 Anatomy of vascular rings and slings: (A) double aortic arch; (B) right aortic arch with anomalous left subclavian artery and left ligamentum arteriosum; (C) aberrant right subclavian artery; and (D) aberrant left pulmonary artery.

Double aortic arch. This is the most common clinically recognized form of vascular ring and, as the

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name implies, both right and left aortic arches are present Left and right aortic arch refer to whichbronchus is crossed by the arch, not to which side of the midline the aortic root ascends The

ascending aorta divides anterior to the trachea into left and right arches, which then pass on eitherside of the trachea The right arch is usually higher and larger and gives rise to the right common

carotid and right subclavian arteries The right arch travels posteriorly and indents the right side ofthe trachea and the right and posterior portions of the esophagus, as it passes behind the esophagus tojoin the left arch at the junction of the left-sided descending aorta The left arch gives rise to the leftcommon carotid and left subclavian arteries The left arch is located anteriorly and indents the leftside of the trachea and esophagus as it joins the descending aorta Double aortic arch is rarely

associated with congenital heart disease, but when present tetralogy of Fallot is the most common,and transposition of the great arteries is occasionally seen Surgical division of one of the arches,usually the smaller one, is curative Respiratory symptoms may persist for months postoperativelybecause of prolonged deformity of the tracheo-bronchial tree

Aberrant right subclavian artery. This is also known as left aortic arch with retroesophageal rightsubclavian artery It is the most common aortic arch malformation noted on postmortem examination.The incidence of this abnormality in the general population is approximately 0.5% Aberrant rightsubclavian artery was found in 0.9% of 3427 consecutive patients undergoing cardiac catheterization

at The Children’s Hospital of Philadelphia It represented 20% of aortic arch anomalies found atcatheterization It is also seen in approximately one-third of Down syndrome patients with congenitalheart disease The left aortic arch has a normal course to the left and anterior to the trachea However,the right subclavian artery arises as the last branch of the arch and runs posteriorly from the

descending thoracic aorta to reach the right arm, passing obliquely up to and right behind the

esophagus and indenting it posteriorly Although most patients with this anomaly are asymptomatic, anolder patient may complain of dysphagia Symptomatic anterior tracheal compression results if there

is a common origin of both carotid arteries in conjunction with a retroesophageal aberrant right

subclavian artery Rarely, an anomalous right subclavian artery in association with a left aortic arch,retroesophageal descending aorta, and right ligamentum arteriosum produces a symptomatic vascularring

Right aortic arch with anomalous left subclavian artery and left ductus arteriosus or ligamentum arteriosum. The aortic arch passes to the right of the trachea, becomes retroesophageal, and descends

on left The first branch is the left carotid artery, the second is the right carotid artery, the third theright subclavian artery, and the fourth the left subclavian artery, which arises from the descendingaorta The ductus arteriosus originates from a retroesophageal diverticulum of the descending aorta,courses to the left and connects to the pulmonary artery Patients are usually asymptomatic However,some patients present with wheezing or stridor because of tracheal compression and require surgicaldivision of the ligamentum arteriosum Older children with dysphagia may require relief of

esophageal compression by actual division of the aortic arch The retroesophageal portion is

mobilized and reanastomosis of ascending and descending portions of the aorta is completed using agraft

Aberrant left pulmonary artery (pulmonary sling). A normal pulmonary artery is absent, and theleft lung is supplied by an anomalous left pulmonary artery arising from the distal right pulmonaryartery The vessel courses to the right of the trachea and then passes between the trachea and

esophagus, causing compression of the right main stem bronchus, trachea, and esophagus The

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resulting compression of the right main stem bronchus and trachea leads to airway obstruction,

primarily affecting the right lung Two-thirds of affected infants present in the first month of life withwheezing, stridor, or apnea Dysphagia is rare There may be associated collapse or hyper-inflation

of the right lung Aberrant left pulmonary artery is frequently associated with complete cartilaginousrings in the distal trachea, resulting in tracheal stenosis It usually appears as an isolated abnormalitybut can be associated with other congenital cardiac defects, particularly tetralogy of Fallot Surgicalrepair involves division of the left pulmonary artery from the right and reanastomosis in front of thetrachea Bronchoscopy is performed at the time of surgical repair because of the frequent association

of complete cartilaginous rings causing tracheal stenosis

CLINICAL PRESENTATION OF VASCULAR RINGS AND SLINGS

Most infants present with symptoms in early infancy Superimposed viral infection with edema of thetrachea or bronchi may account for or contribute to the respiratory symptoms Asymptomatic infants,particularly those with aberrant right subclavian artery, are sometimes diagnosed incidentally onchest radiograph during a viral respiratory illness

The symptoms of a vascular ring or sling are due to tracheal compression and, to a lesser degree,

to esophageal compression Symptoms of tracheal compression include wheezing, stridor, and apnea.Some infants hyperextend their necks to reduce tracheal compression Symptoms related to

esophageal compression include emesis, choking, and nonspecific feeding difficulties in infants, anddysphagia in older children Less severe obstructions may present with recurrent respiratory

infections as a result of aspiration or inadequate clearing of respiratory secretions

DIAGNOSTIC APPROACH

Clinicians should have a high index of suspicion for a vascular anomaly in the evaluation of an infantwith recurrent wheezing Chest radiograph and barium esophagogram should be considered in theinitial evaluation

Chest radiograph. The diagnosis of a vascular ring may be suspected prior to barium esophagogram.Chest radiograph should be examined to assess laterality of the aortic arch and for evidence of

tracheal or bronchial compression The following features on chest radiograph are suggestive of avascular anomaly and require additional evaluation: (1) A midline trachea in which there is no

rotation of the patient or a sharp indentation on the right side of the trachea above the carina suggests

a right aortic arch The normal infant’s trachea is slightly displaced to the right by the normal leftarch (2) Lateral displacement of the right mediastinal pleural line indicates a right descending aorta.(3) Anterior bowing of the trachea rather than a normal posterior convexity on the lateral view

indicates compression (Figure 1-1B) Generalized or focal areas of hyperinflation because of tracheal

or bronchial compression can be mistakenly diagnosed as a foreign body aspiration

Barium esophagogram. Patients with swallowing difficulties should undergo a barium swallow aspart of the initial evaluation Abnormal compression of the middle part of the esophagus posteriorly(vascular ring) or anteriorly (pulmonary sling) is typically evident

Magnetic resonance angiography (MRA) and computed tomography angiography (CTA). BothMRA and CTA have been shown to provide excellent anatomic details and are helpful in planningreconstructive procedures

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Angiogram and transthoracic echocardiogram. In the absence of any other cardiac defect, based angiography has essentially become obsolete because of advances in three-dimensional

catheter-renderings of MRA and CTA data Transthoracic echocardiography is important to detect associatedcongenital cardiac defects but is less reliable at delineating vascular and tracheal anatomy

Bronchoscopy. This enables direct visualization of compression on the trachea and is indicated whentracheal stenosis is present or suspected

TREATMENT

Surgical management is necessary to relieve symptomatic obstruction of trachea and esophagus

Surgery should also be considered when the infant has frequent respiratory infections or poor weightgain The infant with severe preoperative respiratory symptoms is likely to have postoperative

tracheomalacia from prolonged compression by the vascular ring However, feeding difficulties

resolve rapidly

SUGGESTED READINGS

1 Dillman JR, Attili AK, Agarwal PP, et al Common and uncommon vascular rings and slings: a

multi-modality review Pediatr Radiol 2011;41:1440-1454.

2 Berdon WE, Baker DH Vascular anomalies and the infant lung: rings, slings, and other things

7 Weinberg PM Aortic arch anomalies In: Emmanouilides GC, Riemenschneider TA, Allen HD,

Gutgesell HP, eds Moss and Adams Heart Disease in Infants, Children, and Adolescents,

Including the Fetus and Young Adult 5th ed Baltimore: Williams & Wilkins; 1995:810-837.

CASE 1-2

Three-Year-Old Boy

DUSTIN R HAFERBECKER

HISTORY OF PRESENT ILLNESS

A 3-year-old boy was referred to the emergency department for evaluation of wheezing, cough, and

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