Nelson Pediatric Symptom-Based Diagnosis: Common Diseases and their Mimics, 2nd Edition

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Patients don’t present with a disease; they present with symptoms. Using a practical, symptom-based organization, Nelson Pediatric Symptom-Based Diagnosis: Common Diseases and their Mimics, 2nd Edition, offers authoritative guidance on differential diagnosis and treatment of diseases and disorders in children and adolescents, and covers the symptoms you’re likely to see in practice, their mimics, and uncommon disorders. Drs. Robert M. Kliegman, Heather Toth, Brett J. Bordini, and Donald Basel walk you through what to consider and how to proceed when faced with common symptoms such as cough, fever, headache, autistic-like behaviors, chronic pain, chest pain, gait disturbances, and much more. Begins with a presenting symptom and leads you through differential diagnosis and a concise review of treatment recommendations. Contains more than a dozen new topics including Disease Mimics: An Approach to Undiagnosed Diseases, Autistic-like Behaviors, Shock, Hypertension, Neurocognitive and Developmental Regression, Chronic Pain, Hypertonicity, Movement Disorders, Hypermobility, and more. Features a new focus on symptoms of rarer diseases that are mimics of more common diseases. Offers a user-friendly approach to Altered Mental Status such as coma and other CNS disorders, with numerous clinically useful tables and figures to guide clinical decision making in various care settings. Uses a highly templated format for easy reference and quick answers to clinical questions, with the same consistent presentation in each chapter: History, Physical Examination, Diagnosis (including laboratory tests), Imaging, Diagnosis, and Treatment. Includes numerous full-color illustrations, algorithms, tables, and "red flags" to aid differential diagnosis. Serves as an ideal companion to Nelson Textbook of Pediatrics, 21st Edition. Content in this book is referenced and linked electronically to the larger text, providing easy access to full background and evidence-based treatment and management content when you own both references.

Author(s): Robert M. Kliegman, Heather Toth, Brett J. Bordini, Donald Basel
Edition: 2
Publisher: Elsevier
Year: 2022

Language: English
Commentary: TRUE PDF, NO INDEX
Tags: Pediatrics; Pediatric Emergencies; Family & General Practice; Pediatric Symptom-Based Diagnosis

cover
Front Matter
PEDIATRIC SYMPTOM-BASED DIAGNOSIS
Copyright
Copyright
Dedication
Dedication
Contributors
Contributors
Preface
Preface
Table of content
1 - Disease Mimics- An Approach to Undiagnosed Diseases
1 - Disease Mimics: An Approach to Undiagnosed Diseases
Diagnosis as an Iterative Process
History
Disease Mimics: An Approach to Undiagnosed Diseases
1
Physical Examination
Pretest Probability
Sensitivity
Specificity
Likelihood Ratio
Diagnostic Error
The Well-­Calibrated Diagnostician
2 - Sore Throat
2 - Sore Throat
Sore Throat
2
Infectious Mononucleosis
Pathogenesis
Clinical Features
Diagnosis
Bacterial Pharyngitis
Group A Streptococcal Infection
Epidemiology
Clinical Features
Scarlet Fever
Diagnosis
Treatment
Suppurative Complications
Nonsuppurative Sequelae
Treatment Failure and Chronic Carriage
Recurrent Acute Pharyngitis
Fusobacterium necrophorum
Arcanobacterium Infection
Epiglottitis and Bacterial Tracheitis
Diphtheria
Pathogenesis
Clinical Features
Diagnosis
Gonococcal Pharyngitis
Chlamydial and Mycoplasmal Infections
Oral-­Pharyngeal Facial Space Pain
3 - Cough
3 - Cough
Pathophysiology
History
Demographics
Characteristics of the Cough
Associated Symptoms
Family and Patient’s Medical History
Cough
3
Physical Examination
Inspection
. Cyanotic nail beds suggest hypoxemia, poor peripheral circulation, or both. The examiner looks for the presence of digital clu...
. The shape of the chest gives information. Is the anteroposterior (AP) diameter increased, which indicates hyperinflation of th...
Palpation
Percussion
Auscultation
Diagnostic Studies
Radiography
Hematology/Immunology
Bacteriology/Virology
Other Tests
Differential Diagnosis and Treatment
Infection
. Viral upper respiratory infections (common cold); croup (laryngotracheobronchitis); viral bronchiolitis, particularly with RSV...
. Viral URI symptoms and signs usually include nasal congestion and discharge, sore throat, and sneezing. There may be fever, co...
. Infectious croup (see Chapter 4) is most common in the first 2 years of life. Its most dramatic components are the barking (“c...
. Bronchiolitis is a common and potentially serious lower respiratory tract disorder in infants (see Chapter 4). It is caused us...
. Viral pneumonia can be similar to bronchiolitis in its manifestation, with cough and tachypnea, after a few days of apparent U...
. Pertussis is a relatively common cause of lower respiratory tract infection in infants, children, adolescents, and adults, esp...
. Chlamydia trachomatis can cause pneumonia in young infants following acquisition from the maternal genitourinary tract, partic...
. Ureaplasma urealyticum pneumonia is difficult to diagnose but causes cough in some infants. There are no particularly outstand...
. Bacterial pneumonia is less common in infants than is viral pneumonia but can cause severe illness, with cough, respiratory di...
Infections in toddlers and children
. In early childhood, as children attend daycare and nursery schools, they are constantly exposed to respiratory viruses to whic...
. The sinuses may become the site for viral and subsequent secondary bacterial infection spreading from the nasopharynx (Fig. 3....
. Protracted bacterial bronchitis (PBB) is a cause of chronic, productive cough in young children. Suggested clinical criteria i...
. The features discussed for viral pneumonia in infants are relevant for viral pneumonia in older children. The differentiation ...
. Tuberculosis is uncommon in developed countries; 95% of the disease burden worldwide is in developing countries. Tuberculosis ...
Aspiration
Foreign Body
Gastroesophageal Reflux
Asthma
Cystic Fibrosis
Anatomic Abnormalities
. Vascular rings and slings are often associated with inspiratory stridor because the abnormal vessels compress central airways,...
. Pulmonary sequestration is relatively unusual, occurring in 1 in 60,000 children. It occurs most commonly in the left lower lo...
. Congenital pulmonary airway malformations (CPAMs) (formerly known as congenital cystic adenomatoid malformations or CCAMs) are...
. Congenital lobar emphysema has a prevalence of 1 in 20,000–30,000. It can manifest dramatically with respiratory distress in t...
. Tracheoesophageal fistula is common, with an incidence of about 1 in 2,500–4,500 live births. Of these fistulas, the large maj...
. Hemangiomas may be present within the airway and can cause cough, rarely with hemoptysis. Stridor (if the hemangioma is high i...
. Enlarged mediastinal lymph nodes, such as those resulting from tuberculosis, leukemia, other hematologic malignancies, or othe...
. Occasionally bronchial stenosis, either congenital or acquired, may cause cough. The diagnosis is made with bronchoscopy, afte...
. Bronchogenic cysts are uncommon, but they can cause cough, wheeze, stridor, or any combination of these. They may also cause r...
. Certain genetic disorders such as hereditary sensory and autonomic neuropathies (HSANs), in the absence of significant autonom...
Habit (Psychogenic) Cough
Other Causes of Cough
. Bronchiectasis is defined as an abnormal dilatation of the subsegmental bronchi and is usually associated with chronic cough a...
. Conditions in which the cilia do not function properly (immotile cilia or ciliary dyskinesia) lead to cough, usually because i...
. Interstitial lung diseases are classified based on those that occur during the neonatal period and those that are not as preva...
. Pulmonary hemosiderosis is a rare, and often fatal, condition of bleeding into the lung that can manifest with cough. If sputu...
. Tumors causing cough are rare in childhood. Cough usually occurs because of bronchial obstruction, either extrinsic or endobro...
. Isolated tracheomalacia or bronchomalacia is uncommon but can cause cough in some children. The cough of tracheomalacia is typ...
. Some children, usually preschoolers, may episodically awaken at night with stridor and a harsh, barking cough indistinguishabl...
. Bronchiolitis obliterans (BO) is very rare except in lung and bone marrow transplant recipients. In other instances, it may ar...
Hemoptysis
When Cough Itself Is a Problem
4 - Respiratory Distress
4 - Respiratory Distress
Respiratory Distress
Diagnostic Approach
History
Physical Examination
Pulmonary Physical Examination
Other Parts of the Physical Examination
Laboratory Tests
Imaging
Radiography
Computed Tomography
Magnetic Resonance Imaging
Fluoroscopy
Endoscopy
Causes of Respiratory Distress
Wheezing
Asthma
Bronchiolitis
Mycoplasma pneumoniae Infections
Vocal Cord Dysfunction
Foreign Body Aspiration
Stridor
Croup
Bacterial Tracheitis
Epiglottitis
Laryngomalacia
Vocal Cord Paralysis
Vascular Rings
Subglottic Stenosis
Cough
Viral and Bacterial Pneumonia
Hypersensitivity Pneumonitis
Allergic Bronchopulmonary Aspergillosis
Other Causes of Respiratory Distress
Aspiration of Oropharyngeal Contents
Gastroesophageal Reflux
Pneumothorax
Pneumomediastinum
Cystic Fibrosis
Primary Ciliary Dyskinesia
Hemoptysis
Electronic Cigarette, or Vaping, Product Use–Associated Lung Injury
COVID-­19
Cardiac
Neurologic
Other
5 - Earache
5 - Earache
Physical Examination
Earache
5
Diagnostic Tests
Bacterial Cultures
Tympanometry
Acoustic Reflectometry
Diagnostic Imaging
Differential Diagnosis
Otitis Externa
Necrotizing (Malignant) Otitis Externa
Acute Otitis Media
Microbiology
Treatment
Patients with Persistent Symptoms
Recurrent Acute Otitis Media
Otitis Media with Effusion
Mastoiditis
Cholesteatoma
Intracranial Complications
6 - Apparent Life-Threatening Event-Brief Resolved Unexplained Event
6 - Apparent Life-­Threatening Event/Brief Resolved Unexplained Event
Epidemiology
Etiology
Clinical Evaluation
History
Apparent Life-­Threatening Event/Brief Resolved Unexplained Event
6
Physical Examination
Diagnostic Evaluation
Differential Diagnosis by System
Gastrointestinal
Infectious Disease
Neurologic
Airway/Pulmonary
Child Maltreatment
Cardiac
Metabolic/Genetic
7 - Syncope and Dizziness
7 - Syncope and Dizziness
Syncope and Dizziness
7
Neurocardiogenic Syncope
Orthostatic Syncope
Cardiac Syncope/Sudden Cardiac Death
Metabolic Causes of Syncope
Psychiatric Causes of Syncope
Evaluation of the Syncopal Child
History
Physical Examination
Diagnostic Tests
Summary and Red Flags
Vertigo
Evaluation of the Patient with Vertigo
History
Physical Examination
Diagnostic Tests
Summary and Red Flags
Disequilibrium
Evaluation of the Patient with Disequilibrium
History
Physical Examination
Diagnostic Tests
Summary and Red Flags
Lightheadedness
History
Physical Examination
Diagnostic Tests
Summary and Red Flags
8 - Chest Pain
8 - Chest Pain
Chest Pain
Causes of Chest Pain
Approach to the Patient with Chest Pain
History
Musculoskeletal
Psychogenic
Gastrointestinal
Pulmonary
Cardiac
Other
COVID-­19 and Multisystem Inflammatory Syndrome in Children
Physical Examination
Electrocardiogram
Further Diagnostic Testing
Treatment
9 - Murmurs
9 - Murmurs
Origins of the Heart Sounds
The Cardiac Cycle
Changes in the Circulation at Birth
Murmurs
9
Normal Intracardiac Pressures
Pediatric Cardiovascular Evaluation
History
Symptoms and Signs of Heart Disease
General Physical Examination
Overall Appearance
Vital Signs
Respiratory Assessment
Cardiovascular Assessment
Arterial Examination
Venous Examination
Precordial Examination
Auscultation
Heart Sounds
First Heart Sound
Second Heart Sound
Third Heart Sound
Fourth Heart Sound
Ejection Click
Opening Snap
Non-­Ejection Click
Classification of Cardiac Murmurs
Pediatric Murmur Evaluation
Systolic Murmurs
Diastolic Murmurs
Continuous Murmurs
Murmurs in Children with Normal Hearts
Vibratory Still Murmur
Pulmonary Flow Murmur
Peripheral Pulmonary Arterial Stenosis Murmur
Supraclavicular or Brachiocephalic Systolic Murmur
Aortic Systolic Murmur or “Athlete’s Murmur”
Normal Continuous Murmurs
Venous Hum
Mammary Arterial Souffle
Atrial Septal Defects
Patent Ductus Arteriosus
Ventricular Septal Defects
Size
Location
Shunt Flow
Pulmonary Hypertension
Associated Anomalies
Complete Atrioventricular Septal Defects
Tetralogy of Fallot
Tricuspid Valve Atresia
Pulmonary Atresia with Intact Ventricular Septum
Transposition of the Great Arteries
Hypoplastic Left Heart Syndrome
MURMURS CAUSED BY Common Lesions with Simple Obstruction
Pulmonary Valve Stenosis
Aortic Valve Stenosis
Coarctation of the Aorta
Mitral Valve Stenosis
Tricuspid Valve Regurgitation
Mitral Valve Insufficiency
Mitral Valve Prolapse
Pulmonary Valve Insufficiency
Aortic Valve Insufficiency
Miscellaneous Cardiac Anomalies
Pericardial Disease
Pulmonary Hypertension
Approach to Congenital Heart Disease
Acute Rheumatic Fever and Rheumatic Heart Disease
Infective Endocarditis
10 – Shock
10 - Shock
WHAT IS SHOCK: PATHOPHYSIOLOGY
KEY HISTORICAL ELEMENTS TO AID IN DIAGNOSIS AND ETIOLOGY OF SHOCK
PHYSICAL EXAMINATION TO ASSESS AND MANAGE SHOCK
DIAGNOSTIC EVALUATION OF SHOCK
TYPES OF SHOCK
PEDIATRIC SEPTIC SHOCK
FIRST CRITICAL ACTIONS IN THE EVALUATION AND TREATMENT OF SHOCK
ANAPHYLAXIS
11 - Hypertension
11 - Hypertension
Hypertension
Presentation
Symptoms
Physical Examination
Etiology
Infantile Hypertension
Neonatal
Later Infancy
Childhood Hypertension
Common Causes
Less Common Causes
Rare Causes
Evaluation
Investigation of Infantile Hypertension
Investigation for Asymptomatic, Less Common, and Rare Causes of Childhood Hypertension (Fig. 11.3 and see Table 11.10)
12 - Failure to Thrive
12 - Failure to Thrive
Definitions
Failure to Thrive
12
Interpretation of Growth Charts
Epidemiology
Clinical Presentation
Approach to Determining Etiology
History
History of the Present Illness
Medical History
Family History
Social History
Review of Systems
Physical Examination
Laboratory Evaluation
Overall Approach to Management
Steps to Improve Calorie Intake
Mealtime Behavior
Beverages
Food Selection
Daily Routines and Snacks
Calculating Caloric Need
Referral Resources and Other Options
Multidisciplinary Team
Recording or Direct Observation
Involvement of Social Service Agencies
Behavioral Strategies
Non-­Oral Enteral Feeding
Children with Special Health Care Needs
Criteria for Hospitalization
Monitoring
Long-­Term Outcomes
Protein Energy Malnutrition
13 - Abdominal Pain
13 - Abdominal Pain
Abdominal Pain
Pathophysiology of Abdominal Pain
Visceral Pain
Parietal Pain
Acute Abdominal Pain
History
Essential Components of the History
. Pain of fewer than 6 hours’ duration is accompanied by nonspecific findings, and observation is often needed to determine the ...
. The location of the pain at its onset and any change in location are very important (Table 13.5; see also Table 13.1). Most in...
. The character of the pain is often difficult for the child to describe. Some older children may be able to differentiate cramp...
. The effect of the pain on the child’s activities is an important indicator of the severity of the underlying disease, although...
. The presence or absence of gastrointestinal symptoms may differentiate intestinal problems (acute appendicitis, gastroenteriti...
. The presence of headache, sore throat, and other generalized aches and pains moves the examiner away from a diagnosis of an ac...
. Viral gastroenteritis, other viral syndromes, and food poisoning may affect the patient’s family or schoolmates; it is importa...
Physical Examination
Laboratory Evaluation
Complete Blood Cell Count
Urinalysis
Other Laboratory Tests
Imaging Evaluation
Plain Radiography
Ultrasonography
Contrast Studies
Computed Tomography
Management
Specific Causes of Acute Abdominal Pain
Appendicitis
Diagnosis
Laboratory and Radiographic Testing
Treatment
Pancreatitis
Manifestations
Complications
Management
Cholelithiasis
Diagnosis
Treatment
Peptic Ulcer Disease
Abdominal Wall Pain
Chronic Abdominal Pain
Severity and Location of Pain
Approach to Treatment
14 - Diarrhea
15 - Vomiting and Regurgitation
15 - Vomiting and Regurgitation
Neuroanatomy of Vomiting
Neurochemical Basis of Vomiting
Vomiting and Regurgitation
15
Data to Guide the Diagnosis
History and Demographics
Modified from Li BUK, Kovacic K. Vomiting and nausea. In: Wyllie R, Hyams JS, Kay M, eds. Pediatric Gastrointestinal and Liver D...
Temporal Pattern of Vomiting
Characteristics of Vomiting
Associated Symptoms
Medical, Family, and Social History
Physical Examination
Abdominal Examination
Rectal Examination
Evaluation
Laboratory Data
Radiographic and Procedure Data
Differential Diagnosis
General Approach
Gastrointestinal Obstruction (Table 15.10)
Esophageal Obstruction
Esophageal Atresia
Congenital Esophageal Stenosis
Esophageal Strictures
Miscellaneous Causes
Gastric Outlet Obstruction
Hypertrophic Pyloric Stenosis
Other Causes of Gastric Outlet Obstruction
Intestinal Obstruction
Duodenal Atresia, Stenosis, and Web; Annular Pancreas
Duodenal Hematoma
Jejunal Atresia, Ileal Atresia, and Ileal Stenosis
Intestinal Strictures
Adhesions
Duplications
Meconium Ileus and Distal Intestinal Obstruction Syndrome
Incarcerated Hernia
Malrotation and Volvulus
Meckel Diverticulum
Intussusception
Superior Mesenteric Artery Syndrome
Constipation, Meconium Plug, and Anal Stenosis
Gastrointestinal Dysmotility
Achalasia
Gastroesophageal Reflux
Gastroparesis
Ileus
Intestinal Pseudo-­obstruction
Gastrointestinal Inflammation
Esophagitis
Gastroenteritis
Acid Peptic Disease
Meckel Diverticulitis
Mesenteric Adenitis
Appendicitis
Inflammatory Bowel Disease
Allergic Enteropathy, Eosinophilic Gastroenteropathy, and Eosinophilic Esophagitis
Functional Gastrointestinal Disorders
Cyclic Vomiting Syndrome
Abdominal Migraine
Functional Vomiting
Rumination Syndrome
Functional Dyspepsia
Gastrointestinal Ischemia and Vascular Insufficiency
Vasculitis
Mesenteric Ischemia
Hepatobiliary Disorders
Hepatitis
Biliary Colic and Cholecystitis
Pancreatitis
Gynecologic and Urologic Disorders
Pyelonephritis
Ureteropelvic Junction Obstruction and Hydronephrosis
Renal Colic
Dysmenorrhea, Endometriosis, and Pelvic Inflammatory Disease
Ovarian Torsion
Hyperemesis Gravidarum
Testicular Torsion
Respiratory Disorders
Sinusitis, Pharyngitis, and Otitis
Pneumonia
Central Nervous System Disorders
Increased Intracranial Pressure
Abdominal Epilepsy
Vestibular Disorders, Motion Sickness
Psychobehavioral Disorders
Eating Disorders
Psychiatric Disorders
Munchausen by Proxy
Management
Metabolic Disorders
Poisonings and Drugs
Hematemesis
Other Causes of Vomiting
Chemotherapy
Radiation Therapy
Postoperative
Porphyria
Familial Mediterranean Fever (Benign Paroxysmal Peritonitis, Periodic Peritonitis, Polyserositis)
Dysautonomia
Complications of Vomiting
Metabolic Complications
Nutritional Complications
Mallory-­Weiss Tear
Peptic Esophagitis
Therapy
Antiemetic Drugs
16 – Gastrointestinal Bleeding
16 -
Gastrointestinal Bleeding
Definitions
Hematemesis
Hematochezia and Melena
Occult Gastrointestinal Bleeding
Mimics of Gastrointestinal Bleeding
Approach to Gastrointestinal Bleeding
History
Physical Examination
Differential Diagnosis
History
Physical Examination
Differential Diagnosis
Occult Gastrointestinal Bleeding
History
Physical Examination
Differential Diagnosis
Angiodysplasia/Angioectasia
Diagnostic Evaluations
Laboratory Evaluation
Imaging
Radiographs
Abdominal Ultrasound
Computed Tomography
Magnetic Resonance Enterography
Angiography
Nuclear Imaging
Procedural Evaluations
Upper Endoscopy or Esophagogastroduodenoscopy
Lower Endoscopy
Small Bowel Enteroscopy
Capsule Endoscopy
Treatment
Resuscitation
Vasoactive Agents
Endoscopic Modalities
Interventional Radiology
Surgical Intervention
Bibliography
17 - Hepatomegaly
17 - Hepatomegaly
Hepatomegaly
Assessment of the Liver
History and Physical Examination
Pathophysiology
Evaluation of the Child with Hepatomegaly
Laboratory Studies
Hepatocellular Injury
Biliary Injury
Exocrine Function
Synthetic Function
Metabolic Function
Extrahepatic Involvement
Imaging Studies
Liver Biopsy
Hepatomegaly in the Infant
Hepatomegaly in the Child and Adolescent
Steatohepatitis
Viral Hepatitis
Toxins
α1-­Antitrypsin Deficiency
Wilson Disease
Autoimmune Liver Disease
Primary Sclerosing Cholangitis
AIDS
Other Infections
Perihepatitis Syndrome
Hepatic Abscess
Endocrine Disorders
Liver Tumors
Hepatic Cysts
Hepatic Venous Outflow Obstruction
18 - Jaundice
18 - Jaundice
Jaundice
Diagnostic Strategies
Bilirubin
Aminotransferases
Alkaline Phosphatase
γ-­Glutamyltransferase
Bile Acids
Albumin
Prothrombin Time
Ultrasonography
Scintigraphy
Computed Tomography
Magnetic Resonance
Endoscopic Retrograde Cholangiopancreatography
Percutaneous Transhepatic Cholangiography
Liver Biopsy
Jaundice in the Neonate and Infant
History
Physical Examination
Differential Diagnosis
Physiologic and Breast Milk Jaundice
Unconjugated Hyperbilirubinemia
. Neonatal polycythemia, defined as a hematocrit >65% by venipuncture, can be caused by maternal diabetes, twin-­twin transfusio...
. Reticulocytosis, unconjugated hyperbilirubinemia, and an increased nucleated red blood cell count, with either a low or normal...
. In this group of disorders, maternal antibodies (immunoglobulin G) to the infant’s erythrocytes cross the placenta, resulting ...
. Red blood cell membrane defects are relatively uncommon causes of unconjugated hyperbilirubinemia. There is often a family his...
. Glucose-­6-­phosphate dehydrogenase (G6PD) deficiency is common. Jaundice is seen more frequently in persons with a Mediterran...
. If the hematocrit is normal and there is no evidence of hemolysis or a consumptive process, other explanations for unconjugate...
Familial disorders of bilirubin metabolism
. Gilbert syndrome is a benign condition that occurs in up to 8% of the population. A familial incidence is reported in 15–40% o...
. Crigler-­Najjar syndrome types I and II (also known as Arias syndrome) are rare autosomal recessive conditions caused by varia...
. Lucey-­Driscoll syndrome is a transient familial neonatal hyperbilirubinemia that appears in the first few days of life and re...
. Treatment of unconjugated hyperbilirubinemia depends on the degree of elevation of bilirubin. Considerable controversy exists ...
. Conjugated hyperbilirubinemia in the neonate and infant has an extensive differential diagnosis (see Table 18.3). It is import...
Obstructive/anatomic abnormalities, idiopathic cholestasis, and idiopathic neonatal hepatitis
. Untreated biliary atresia is universally lethal, and only prompt diagnosis and surgical treatment can prevent mortality. Bilia...
. Alagille syndrome is characterized by the abnormal development of multiple organs related to defective JAG-­1/NOTCH-­2 signali...
. Manifestations include conjugated hyperbilirubinemia with jaundice, vomiting, acholic stools, and hepatomegaly in the neonate....
Treatable infections
. An infant may, in rare cases, appear clinically well, with jaundice as the only sign of a bacterial infection. Blood and urine...
. Herpes simplex causes a severe neonatal infection that usually manifests at 7–14 days of age with lethargy, poor feeding, a ve...
. Maternal infection at the time of delivery may result in severe enteroviral disease in the infant within 1–7 days of birth. Ma...
. Infection with COVID-­19 has been associated with liver dysfunction, although additional studies are needed to understand the ...
. CMV infection is common, but 90% of affected infants are asymptomatic at birth. In the severely affected infant with vertical ...
. Hepatitis B infection manifests with jaundice in fewer than 5% of perinatal infections. Perinatal transmission is high when mo...
. Congenital syphilis remains a problem despite maternal screening. With severe infection, the infant has fever, a diffuse macul...
. If toxoplasmosis is suspected on clinical grounds, IgM titers should be obtained, or the placenta should be examined histologi...
. Many metabolic disorders are part of the universal newborn screening program in developed countries. The clinician needs to be...
. Galactosemia, a life-­threatening disorder, can easily be detected. It is an autosomal recessive disorder with deficiency of g...
Other identifiable infectious and metabolic causes of cholestasis
. An α1-­antitrypsin protein immunoelectrophoresis can detect an α1-­antitrypsin deficiency, which is the most common inherited ...
. As many as one third of infants with cystic fibrosis may have evidence of liver involvement, frequently cholestasis. The incid...
. Jaundice can be a manifestation of both hypothyroidism and hypopituitarism. Hypopituitarism may manifest with hypoglycemia, mi...
. Progressive familial intrahepatic cholestasis (PFIC) is a group of disorders related to defective transport of bile acids (Tab...
. Idiopathic neonatal hepatitis is a descriptive term rather than a specific disease entity. The diagnosis is made by exclusion ...
. Some interventions are essential for all infants with cholestasis. Malabsorption of fats and fat-­soluble vitamins occurs as a...
Jaundice in the Child and Adolescent
History
Physical Examination
Differential Diagnosis
Unconjugated Hyperbilirubinemia
Conjugated Hyperbilirubinemia
. The relative elevation of AST/ALT and alkaline phosphatase levels in the context of the clinical picture determines the likeli...
. Gallstones are particularly common in children with hemolytic disorders, such as sickle cell disease, thalassemia, erythrocyte...
. Primary sclerosing cholangitis (PSC) is characterized by focal dilatation and stenosis of the intrahepatic or extrahepatic bil...
. Infections are a common cause of jaundice in the child and adolescent. The most important step is to evaluate patients for syn...
. Hepatitis A virus (HAV) infection is usually anicteric or asymptomatic in children younger than 5 years of age. However, in al...
. Hepatitis B virus (HBV) is a DNA virus that is transmitted through blood products, shared needles, and sexual contact; vertica...
. Acute hepatitis C virus (HCV) infection is often mild and usually subclinical. Jaundice is unusual. Chronic infection develops...
. Hepatitis D virus (HDV) infection can occur only in the presence of HBV as either a co-­infection or a superinfection. Its rou...
. Hepatitis E virus (HEV) infection is similar to HAV in its manifestation and mode of transmission. It is a self-­limited illne...
. Epstein-­Barr virus infection can mimic HAV, HBV, or HCV infection. Often there is an exudative pharyngitis and lymphadenopath...
. Other viruses including herpes simplex, human herpesvirus 6, parvovirus B19, coronavirus COVID-­19, and norovirus can also cau...
. Wilson disease is an autosomal recessive disorder of copper metabolism. As a result of ATP7B variant, copper cannot be excrete...
. Numerous drugs and toxins are associated with hepatic injury (see Table 18.12) and should be considered in the evaluation of j...
. Autoimmune hepatitis (AIH) is a common cause of chronic liver injury (Table 18.13). The most frequent course is insidious with...
19 - Constipation
19 - Constipation
Data Collection and Assessment
History
Constipation
19
Physical Examination
Diagnostic Evaluation
Differential Diagnosis
Hirschsprung Disease
Pediatric Intestinal Pseudoobstruction
Anterior Anal Displacement
Anal Stenosis
Imperforate Anus
Spina Bifida and Spina Bifida Occulta
Endocrine and Metabolic Diseases
Neurologic Disease
Medication-Related Constipation
Encopresis
20 - Abdominal Masses
20 - Abdominal Masses
Clinical History
Physical Examination
Abdominal Masses
20
Laboratory and Imaging Studies
Splenomegaly
History
Physical Examination
Approach to the Child with Splenomegaly
Laboratory Investigation
Complete Blood Cell Count
Leukocyte Count, Differential, and Procalcitonin
Hemoglobin, Erythrocyte Morphology, and Reticulocyte Count
Platelet Count
Pancytopenia
Viral Antibody Titers
Erythrocyte Sedimentation Rate and C-­Reactive Protein
Liver Function Tests
Immunologic Evaluation
Cultures
Genetic Testing
Bone Marrow Examination
Imaging
Splenectomy
Neuroblastoma
Renal Masses
Congenital Hydronephrosis
Cystic Abnormalities of the Kidney
Wilms Tumor (Nephroblastoma)
Liver Tumors
Hepatoblastoma
Hepatocellular Carcinoma
Congenital Dilatation of the Bile Ducts
Intestinal and Pancreatic Masses
Appendiceal Phlegmon and Abscess
Intussusception
Bezoar
Intestinal Duplications
Neoplasms of the Gastrointestinal Tract
Mesenteric, Omental, and Retroperitoneal Cysts
Pancreatic Pseudocyst and Neoplasms
Ovarian Tumors
Soft Tissue Sarcoma
21 - Dysuria
21 - Dysuria
Dysuria
Neonates
Children 2–24 Months of Age
Preschool Children
School-­Aged/Prepubertal Children
Adolescents
22 - Proteinuria
22 - Proteinuria
Differential Diagnosis
Proteinuria
22
Minimal Change Disease
Diagnosis
Treatment
Complications of Nephrotic Syndrome
Infection
Thrombosis
Hyperlipidemia
Other Forms of Nephrotic Syndrome
Focal Segmental Sclerosis
Diagnosis
Treatment
Membranous Nephropathy
Treatment
Nephrotic Syndrome in Infants Younger Than 1 Year
Congenital Nephrotic Syndrome
Diffuse Mesangial Sclerosis
Asymptomatic Proteinuria Disorders
23 - Hematuria
23 - Hematuria
Hematuria
Gross Hematuria
History
Physical Examination
Evaluation
Laboratory Tests
Imaging and Cystoscopy
Microscopic Hematuria
More Common Causes of Hematuria
Postinfectious Glomerulonephritis
Immunoglobulin A Nephropathy
Hereditary Nephritis
Polycystic Kidney Disease
Uncommon Causes of Hematuria in Childhood
24 - Acute and Chronic Scrotal Swelling
24 - Acute and Chronic Scrotal Swelling
Inguinal Region
Testis Descent
Scrotum
Testis
Diagnostic Strategies
History
Acute and Chronic Scrotal Swelling
24
Physical Examination
. In prepubertal males, torsion of the appendix testis is more common than testicular torsion (Table 24.3). Conversely, in the p...
. Scars may imply previous surgery for hernia, hydrocele, undescended testis, or varicocele
. Erythema suggests an underlying inflammatory process but is nonspecific. Duskiness or fixation of the skin over the testis is ...
. A testis positioned high in the scrotum is suggestive of testicular torsion. The spermatic cord shortens as it twists. The aff...
. Stimulated by gently scratching the ipsilateral medial thigh, reflexive cremaster muscle contraction causes the scrotum to ret...
Laboratory Data
Imaging Studies
Differential Diagnosis
Testicular Torsion
Torsion of the Appendix Testis
Epididymitis, Epididymoorchitis, and Orchitis
Trauma and Hematocele
Varicocele
Inguinal Hernia
Hydrocele
Testicular Tumors
Meconium Peritonitis
Scrotal Wall Swelling
Henoch-­Schönlein Purpura (Immunoglobulin A Vasculitis)
Acute Idiopathic Scrotal Wall Edema
Idiopathic Fat Necrosis
Fournier Gangrene
Referred Pain
Bibliography
25 - Menstrual Problems and Vaginal Bleeding
25 - Menstrual Problems and Vaginal Bleeding
Menstrual Problems and Vaginal Bleeding
25
Abnormal Bleeding in Adolescence
Review of the Menstrual Cycle
Pregnancy
Coagulopathy
Ovulatory Dysfunction
Endometrial Causes
Iatrogenic Causes
Not Yet Classified
Structural Causes: PALM
Congenital Anomalies
Treatment
Menstrual Pain in Adolescents
26 - Disorders of Sex Development
26 - Disorders of Sex Development
Overview of Gonadal Function
Testes
Disorders of Sex Development
26
Ovaries
Basic Approaches to the Diagnosis and Management of Disorders of Sex Development
46,XX Disorders of Sex Development
Androgen Exposure/Fetoplacental Source
. CAH is the most common cause of genital ambiguity and of 46,XX DSD. CAH is caused by an enzymatic defect in the biosynthesis o...
. In 46,XX females, the rare condition of aromatase deficiency during fetal life leads to 46,XX DSD and results in hypergonadotr...
. A 9-­year-­old female with 46,XX DSD and a history of ambiguous genitalia, thought to be due to 21-­hydroxylase deficiency CAH...
Androgen Exposure: Maternal Source
. Rarely, a female fetus can be virilized by a maternal androgen-­producing tumor. In a minority of cases, the lesion is a benig...
. Testosterone and 17-­methyltestosterone have been reported to cause 46,XX DSD in some instances. The greatest number of cases ...
Disorders of Ovarian Development
. In this condition, also called XX male, the gonads are testicular, and virilization is typically incomplete. Infertility and/o...
. These females typically present at puberty with lack of breast development and hypergonadotropic hypogonadism. Normal mülleria...
. Rarely, 46,XX DSD can be associated with other congenital anomalies, especially those of the genitourinary or gastroenteric tr...
46,XY Disorders of Sex Development
Defects in Testicular Development
. The constellation of nephropathy with atypical genitalia and bilateral Wilms tumor typifies Denys-­Drash syndrome. Müllerian d...
. This form of short-­limbed skeletal dysplasia is characterized by anterior bowing of the femur and tibia; small, bladeless sca...
Steroidogenic Factor 1 (SF1)
Other Known Genetic Causes of 46,XY DSD
. The designation pure distinguishes this condition from forms of gonadal dysgenesis that are of chromosomal origin and associat...
. In this rare syndrome, the external genitalia are slightly atypical but more nearly female. Hypoplasia of the labia; some degr...
Deficiency of Testicular Hormone Production
. Patients with aplasia or hypoplasia of the Leydig cells usually have a female phenotype, but there may be mild virilization. T...
. CAH due to lipoid adrenal hyperplasia: This is the most severe form of congenital adrenal hyperplasia, and it derives its name...
. This enzyme, also called 17β-­hydroxysteroid dehydrogenase (17β-­HSD), catalyzes the final step in testosterone biosynthesis. ...
. In this disorder, there is persistence of müllerian duct derivatives in otherwise completely virilized males. Cases have been ...
. Smith-­Lemli-­Opitz syndrome is an autosomal recessive disorder caused by variants in the sterol Δ7-­reductase gene. This prev...
Defects in Androgen Action
. Deficiency of steroid 5α-­reductase type II (SRD5A2): SRD5A2 deficiency prevents the conversion of testosterone to DHT in andr...
. The AISs are the most common forms of 46,XY DSD, occurring with an estimated frequency of 1/20,000 genetic males. This group o...
Undetermined Causes of 46,XY Disorders of Sex Development
Ovotesticular Disorders of Sex Development
Sex Chromosome Disorders of Sex Development
27 - Intellectual Developmental Disorders (Developmental Delay)
27 - Intellectual Developmental Disorders (Developmental Delay)
Intellectual Developmental Disorders (Developmental Delay)
Definitions
Epidemiology
Intellectual Disability
Developmental Disability
Diagnosis
Identification
Developmental Risk Factors
Developmental Protective Factors
Screening for Specific Abnormalities
Visual Deficits
Loss of Hearing
Speech and Language Disorders
Prenatal and Newborn Screening Programs
Prenatal Screening
Newborn Screening
Identification of Children with Developmental Disabilities in Primary Health Care Settings
Developmental Screening
Developmental Surveillance
Comprehensive Developmental Assessment
Neurodevelopmental Pediatric Assessment
History
Physical Examination
Formal Neurodevelopmental Assessments
Psychologic Evaluation
Speech-­Language and Oral Motor Evaluation
Diagnostic Strategy
Genetic Considerations
Laboratory Testing
Genetic Tests
Metabolic Tests
Neuroimaging
Ultrasonography
Computed Tomography Scans
Magnetic Resonance Imaging
Indications for Various Imaging Modalities
Other Tests
Discussing a Developmental Diagnosis with Parents
Specific Conditions
Cerebral Palsy
Autism Spectrum Disorder
Fragile X Syndrome
Inborn Errors of Metabolism and Storage Diseases
Congenital Infections
Postnatal Infections
Treatment
Pitfalls and Hazards in Developmental Diagnosis
28 - Neurocognitive and Developmental Regression
28 - Neurocognitive and Developmental Regression
Neurocognitive and Developmental Regression
28
Genetic Evaluation
Metabolic Tests
Bibliography
29 - Dysmorphology
29 - Dysmorphology
Dysmorphology
Diagnostic Approaches
Human Variation
Teratology
Embryogenesis
Birth Defects
Clinical Classification
Single-­System Defects
Association
Sequence
Syndrome
Complex
Dysmorphic Evaluation
Components of Dysmorphic Evaluation
Detailed History
. It is customary to start with the siblings of the patient (the proband), proceed to the parents and the parents’ siblings and ...
. Maternal health and concurrent illness with treatment is a critical part of the evaluation. Details of participation in prenat...
. A developmental history establishes the pattern for acquisition of developmental milestones. A screening tool such as the Denv...
Examination
Initial Inspection
Anthropometrics
Head and Neck
Face
General “Rules”
Assembling the Data
Minimal Diagnostic Criteria
Tools to Assist the Diagnostic Odyssey
Genetic Testing
30 - The Irritable Infant
30 - The Irritable Infant
The Irritable Infant
Diagnostic Approach
Addressing Caregivers’ Response to Crying
Specific Diagnoses
Child Maltreatment
Infantile Colic
Feeding and Gastrointestinal Dysfunction
Teething
Drug Reactions
Monogenetic Pain Syndromes
31 - Emotional and Behavioral Symptoms
31 - Emotional and Behavioral Symptoms
Emotional and Behavioral Symptoms
Behaviors That Primarily Affect the Patient
Attention-­Deficit/Hyperactivity Disorder
Inattention
Hyperactivity/Impulsivity
Tic Disorders
Behaviors That Affect Others
Disruptive Mood Dysregulation Disorder
Intermittent Explosive Disorder
Substance Use Disorder
Oppositional Defiant Disorder
Conduct Disorder
Conditions Characterized by Depressed Mood
Major Depressive Disorder
Premenstrual Dysphoric Disorder
Substance-­Induced Mood Disorders
Adjustment Disorder
Conditions Characterized by Extremes of Mood Lability
Addressing Suicidal Thoughts and Attempts
Conditions Characterized by Worry
Worry Without Unusual Behaviors
. The hallmark of adjustment disorders is an excessive or maladaptive response to a stressor that is out of proportion to that s...
Worry with Unusual Behaviors
. Pediatric acute onset neuropsychiatric disorder (PANS) is the term proposed for a group of neuropsychiatric disorders (particu...
Conditions Characterized by Fear
Fears Arising Spontaneously
. The hallmark of a specific phobia is intense fear upon exposure to a particular stimulus or situation or, occasionally, upon t...
. Social anxiety disorder is a specific phobia in which the stimulus is either a social or performance task. Diagnostic criteria...
. The core fear in separation anxiety disorder is separation from a specific attachment figure or figures. Fear of separation is...
. Patients with selective mutism have a persistent failure to speak in specific, but not all, situations. Children with selectiv...
Fears Arising from Traumatic Events
Conditions Characterized by Panic
Panic Disorder
Agoraphobia
Conditions Characterized by Hallucinations
Fantasy-­Based Hallucinations
Grief-­Induced Hallucinations
Hallucinations Associated with Sleep
Phobic Hallucinations
Febrile Hallucinations
Schizophrenia
Conditions Characterized by Fluctuating Mental Status
Delirium
Substance Intoxication
Serotonin Syndrome
Neuroleptic Malignant Syndrome
Conditions Characterized by Parental Concerns (Table 31.13)
Parental Worry
Factitious Disorder Imposed on Another (Formerly Munchausen Syndrome by Proxy) (see also Chapter 30)
Conditions Characterized by the Patient’s Physical Complaints
Illness Anxiety Disorder (Hypochondriasis)
Somatic Symptom Disorder
Factitious Disorder
Conversion Disorder (Functional Neurologic Symptom Disorder)
Conditions Characterized by Changes in Eating
Conditions Characterized by Decreased Eating
Anorexia Nervosa
Avoidant/Restrictive Food Intake Disorder
Conditions Characterized by Binge Eating
Bulimia Nervosa
Binge-­Eating Disorder
32 - Autistic-like Behaviors
32 - Autistic-­like Behaviors
Medical Work-­Up
Screening and Diagnosis for Autism Spectrum Disorder
Autistic-­like Behaviors
32
Genetic Testing and Diagnosis
Fragile X Syndrome
MECP2-­Related Neurodevelopmental Disorders
PTEN Hamartoma Syndrome
22q11.2 Deletion Syndrome
22q11.2 Duplication Syndrome
Tuberous Sclerosis
Timothy Syndrome
Phelan-­McDermid Syndrome
Cortical Dysplasia–Focal Epilepsy Syndrome
15q11-­13 Deletion or Duplication Maternal/Paternal
Potocki-­Lupski Syndrome
Pitt-­Hopkins Syndrome
Regression
Catatonia
33 - Chronic Pain
33 - Chronic Pain
Chronic Pain
Chronic Pain
Chronic Pain
Chronic Overlapping Pain Condition
Comorbid Conditions
Pathophysiology
33
Epidemiology
Management
Therapeutic Approach
Bibliography
34 - Headaches
34 - Headaches
Headaches
History
Physical Examination
Neuroimaging
Laboratory Investigations
Classification of Headaches
Primary Headaches
Tension-­Type Headaches
Migraine Headaches
. Criteria assist in the diagnosis of migraine without aura and are based on the number and duration of episodes, as well as sym...
. In migraine with aura, the headache is preceded by sensory signs or symptoms termed an aura, which is caused by vasoconstricti...
. Status migrainosus is defined as a migraine headache that lasts over 72 hours with debilitating pain or associated symptoms. D...
Trigeminal Autonomic Cephalgias
. Cluster headaches are characterized by episodes of pain interspersed between long periods of remission (Table 34.18). Prevalen...
Paroxysmal Hemicrania
Secondary Headaches
Headache Associated with Trauma
. If a child presents with a headache after trauma and has abnormal neurologic signs or symptoms, noncontrast CT of the head sho...
. Headaches may occur as part of the postconcussive or post-­traumatic syndrome. The headache is generally constant and may have...
Headaches Associated with Vascular Disorders
. Headache is a feature of up to 30% of acute ischemic strokes. More commonly experienced symptoms are focal neurologic deficits...
. Arterial aneurysms may be congenital (berry) or caused by an infectious process (mycotic). Rupture of an arterial aneurysm is ...
. Cerebral sinovenous thrombosis can present with progressive headache. Additional signs and symptoms can include papilledema, s...
. Vascular dissection may present with a headache that precedes ischemic symptom development by hours to days. These headaches a...
. Vasculitis is an important cause of headaches in adults; in children, headache is rarely the only presenting manifestation of ...
. Patients with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) may have recurrent migraine ep...
Headaches Associated with Nonvascular Intracranial Disorders
. Idiopathic intracranial hypertension (IIH), formally called pseudotumor cerebri, is most commonly seen in obese postmenarchal ...
. Intracranial hypotension may occur from a tear in the dura caused by trauma, surgery, or lumbar puncture. The etiology of the ...
. Brain neoplasms are the second most common type of childhood malignancy, though the overall incidence is low. As such, tumor i...
. Chiari I malformation may present with headaches (often occipital and neck) that worsen with cough and Valsalva maneuvers, and...
. Headache may be a preictal phenomenon in patients with focal epilepsy syndromes or a consequence of an epileptic seizure. Post...
Headaches Related to Substances
. A thorough medication history is essential, as many analgesics may be associated with overuse headaches. All classes of headac...
. The threshold for withdrawal for each person is variable, but when caffeine is ingested in sufficient quantities for prolonged...
. Carbon monoxide poisoning should be suspected in any child with chronic headaches, as even mild exposure may cause headache an...
Headaches Associated with Infections
Disorders Affecting Homeostasis
Psychologic Factors
35 - Hypotonia and Weakness
35 - Hypotonia and Weakness
Muscle Weakness and Hypotonia
Evaluating Hypotonia
Hypotonic Infant
Clinical Evaluation
Muscle Strength
35
Passive Tone
Joint Extensibility
Postural Reflexes
. The traction response is the most useful and most sensitive of the postural reflexes in infants. With the infant lying supine,...
Weak Child
Clinical Evaluation
Posture and Strength
Passive Tone
Joint Extensibility
Diagnostic Approach to the Hypotonic Infant
Diagnostic Approach to the Child with Weakness
Is the Problem a Systemic Disorder
Diagnostic Considerations
Common Disorders
. The child with trisomy 21 generally has recognizable features, including microcephaly, up-­slanted palpebral fissures, epicant...
. Prader-­Willi syndrome manifests in early infancy with marked hypotonia and virtually no other identifiable symptoms, though c...
Uncommon Disorders
. Metabolic disorders that are associated with hypotonia include the following (see Table 35.1)
. Neurologic disorders associated with hypotonia are often recognizable by unusual neurologic features that include the followin...
. Congenital malformation syndromes are recognizable by their characteristic features
. Connective tissue disorders associated with hypotonia, and particularly with joint hyperextensibility, can also generally be r...
Is the Problem in the Cerebrum or Cerebellum
Diagnostic Considerations
Common Disorders
. Brain injury resulting from asphyxia, hypoxia, or ischemia is an important cause of neonatal neurologic morbidity. Tissue oxyg...
. Brain malformation can arise as a result of a chromosomal disorder, as a component of a multiple malformation syndrome, or as ...
Uncommon Disorders
Progressive encephalopathies of infancy. Progressive encephalo1396983920pathies of infancy account for a small number of childre...
. Mitochondrial diseases often affect both the brain and muscle and clinically manifest as hypotonia, likely as a combination of...
. Miller-­Dieker syndrome is characterized by severe lissencephaly (“smooth brain” with agyria), severe developmental impairment...
Is the Problem in the Spinal Cord
Diagnostic Considerations
Common Disorders
. Meningomyelocele is a congenital malformation of the spine, spinal cord, and overlying meninges that affects up to 0.2% of liv...
. Transverse myelitis is a common cause of acute hypotonia and weakness that manifests over hours or several days. The localizat...
. Pathologically, tethered cord syndrome (TCS) occurs when the lumbosacral spinal cord is fixed to the sacrum due to a thickened...
Uncommon Disorders
Is the Problem in the Motor Unit
Diagnostic Considerations
Is the Problem in the Motor Neuron/Anterior Horn Cell
. Motor neuron disease is suggested by hypotonia, weakness, absence of reflexes, and fasciculations. Muscle fasciculations are d...
. Spinal muscular atrophy (SMA) is characterized by degeneration of anterior horn cells in the spinal cord and brainstem nuclei,...
. Juvenile amyotrophic lateral sclerosis (JALS) is a rare disorder caused by degeneration of both upper and lower motor neurons ...
Is the Problem in the Nerve
. Neuropathies are characterized by hypotonia, weakness, and diminished or absent reflexes. Neuropathies may be primarily motor ...
Common disorders
. Guillain-­Barré syndrome (GBS) is an acute inflammatory demyelinating polyneuropathy (AIDP) that is often associated with an a...
. Charcot-­Marie-­Tooth disease (CMT) refers to a group of slowly progressive hereditary motor and sensory neuropathies. The dis...
Uncommon disorders
. Chronic inflammatory demyelinating polyneuropathy (CIDP) is a chronic immune-­mediated neuropathy with a childhood incidence o...
Is It a Problem at the Neuromuscular Junction
. NMJ disorders are characterized by hypotonia and weakness with preserved reflexes, except in the case of botulism, in which re...
Common disorders
. Up to 15% of all autoimmune myasthenia is pediatric onset. Symptoms include acute diplopia, ptosis, respiratory distress, and ...
. Infantile botulism is caused by the ingestion of Clostridium botulinum organisms that germinate in the infant’s gastrointestin...
Uncommon disorders
. Transient neonatal myasthenia (TNM) is caused by transplacental transfer of maternal antibodies, even if the mother is seroneg...
. Congenital myasthenic syndrome (CMS) is a rare set of genetic disorders stemming from pathogenic variants in over a dozen diff...
Is It a Problem in the Muscle
. The muscle diseases are broadly categorized into muscular dystrophies or myopathies based on clinical and pathologic features....
Common disorders
. Duchenne and Becker muscular dystrophy (DMD and BMD) are X-­linked disorders caused by pathogenic variants in the DMD gene, wh...
. Myotonic dystrophy type 1 is a common muscle disorder of childhood that is distinct in that it causes primarily a distal distr...
. Juvenile dermatomyositis (JDM) is a childhood-­ to adolescent-­onset, systemic autoimmune disease caused by inflammation of sm...
Uncommon disorders
. Pompe disease, also known as acid maltase deficiency or glycogen storage disease type II, is a severe metabolic disease due to...
. Congenital myopathies are genetically and clinically heterogeneous (Table 35.24). These myopathies have characteristic muscle ...
. The congenital muscular dystrophies (CMDs) are another group of clinically and genetically heterogeneous disorders (Table 35.2...
36 - Rhabdomyolysis
36 - Rhabdomyolysis
Rhabdomyolysis
Rhabdomyolysis
Rhabdomyolysis
Diagnosis
HyperCKemia
Myoglobinuria
Myositis
36
Clinical Presentation
History
Physical Examination
Diagnostic Evaluation
Muscle Biopsy
Treatment
Renal Injury Risk
Compartment Syndrome
Hospital Follow-­Up
Diseases
Exercise-Induced
History
Physical Examination
Diagnostic Evaluation
Treatment
Hospital Follow-­Up
Infectious
Trauma
Drug/Toxin
History
Diagnostic Evaluation
Treatment
Autoimmune
Treatment
Muscle Disease
Dystrophinopathy
Other Muscular Dystrophies
Myopathies
RYR1 and Malignant Hyperthermia
Glycogen Metabolism/McArdle DISEASE
Carnitine Palmitoyl Transferase II Deficiency
Systemic Disease
Mitochondrial and Fatty Acid Oxidation Defects
Presumed Isolated HyperCKemia
37 - Stroke
37 - Stroke
Stroke
Definitions
The Symptoms of Stroke
Weakness
Localization and Severity of Weakness
Characterization of Weakness: Flaccid or Spastic
Sensory Deficits
Language Deficits
Types of Aphasias
Visual Deficits
Coordination, Precision, and Gait Disorders
Brainstem Syndromes
Seizures
Disorders of Consciousness
Stroke Syndromes by Age
Perinatal Stroke
Neonatal Stroke
Clinical Presentation and Mimics
Risk Factors of Neonatal Stroke
Evaluation and Management
. The evaluation of the neonate with suspected stroke requires neuroimaging. Head ultrasonography is typically readily available...
. Laboratory testing for the wide variety of etiologic factors underlying stroke should be conducted according to the presentati...
Management
Outcomes
Presumed Perinatal Stroke
Clinical Presentation and Mimics
Evaluation, Management, and Outcome
Stroke in Children
Ischemic Stroke in Children
Risk Factors and Etiology
. Arteriopathies are cerebrovascular conditions associated with vessel wall abnormalities and may be unilateral or bilateral, be...
. Congenital heart disease is a significant risk factor for childhood stroke. The strokes are typically embolic; children with s...
. Several disorders of coagulation can render patients at risk for embolic or thrombotic stroke (see Table 37.15). Adverse conse...
. Autoimmune disorders are uncommon causes of stroke in children (Table 37.16). Symptoms of abrupt onset with accompanying defic...
. There are rare metabolic and genetic conditions associated with stroke (Table 37.17). Homocystinuria, a disorder of homocystei...
Evaluation and Management
Outcome
Hemorrhagic Stroke in Children
Coagulopathies
Thrombocytopenia
Vascular Malformations
Venous Stroke in Children
Risk Factors
Evaluation and Management
Outcome
Stroke in Adolescents
Fibromuscular Dysplasia
Oral Contraception, Pregnancy, and the Puerperium
Illicit Substance Use
Modifiable Risk Factors
Causes of Stroke Unrelated to Age
Pharyngeal Infection
Head and Neck Trauma
Migraine Headache
Bibliography
38 - Hypertonicity
38 - Hypertonicity
Definitions
History
Physical Examination
38
Etiology
Cerebral Palsy
Testing
Management
Hereditary Hyperekplexia
Stiff Person Syndrome
Tetanus
Myogenic Etiologies of Hypertonicity
Drug-­Related Hypertonicity
Opisthotonus
39 - Paroxysmal Disorders
39 - Paroxysmal Disorders
Paroxysmal Disorders
History
Physical Examination
Red Flags
Ongoing Status Epilepticus
Stroke or Complicated Migraine
Meningitis
Epileptic Seizures
Genetics
Seizure Classification and Terminology
Focal Seizures
Localization-­Related Seizures, Partial Seizures
Generalized Seizures
Electroencephalographic Studies
Neuroimaging Studies
Evaluation of the First Seizure
Status Epilepticus
Neonatal Period
Paroxysmal Nonepileptic Disorders
. Jitteriness or tremulousness is a common movement disorder of neonates. It can be confused with seizures, especially if superi...
Benign Neonatal Sleep Myoclonus
Acute Symptomatic Seizures and Occasional Seizures
Diagnostic Investigations
Prognosis
Treatment
Epileptic Syndromes
. Some neonatal seizures occur in otherwise healthy neonates without perinatal risk factors or identifiable causes that remit sp...
. There are rare metabolic disorders that present in the first few days of life with encephalopathy and refractory seizures; a s...
. Malformations of cortical development. Disorders of cell migration within the CNS may result in profound anatomic abnormalitie...
. Early myoclonic encephalopathy appears in neonates before 2–3 months of age, usually within the first 2 weeks of life. Myoclon...
Infancy
Paroxysmal Nonepileptic Disorders
. Cyanotic infant syncope consists of episodes of loss of consciousness followed by tonic stiffening in crying infants. The peak...
. Pallid infant syncope occurs in response to transient cardiac asystole in children with a hypersensitive cardioinhibitory refl...
. A startle response is normally seen in children and adults in response to sudden, unexpected stimuli. There are two phases to ...
. Also referred to as head banging or rocking, jactatio capitis nocturna consists of rhythmic to-­and-­fro movements of the head...
. Shivering or shuddering attacks are brief episodes characterized by sudden flexion of the head and trunk associated with a rap...
. Torticollis is an abnormal posturing of the head and neck, with the head flexed toward the shoulder and the neck rotated with ...
. Episodes of genital self-­stimulation may occur in young children. Toddlers may assume stereotyped posturing with tightening o...
. Spasmus nutans is a rare disorder usually of unknown origin characterized by nystagmoid eye movements, head nodding, and torti...
. Benign paroxysmal vertigo may be confused with seizures because attacks develop suddenly, are accompanied by ataxia, and may c...
. This uncommon syndrome may resemble the cryptogenic form of infantile spasms at onset, with bilateral myoclonic jerks developi...
. Alternating hemiplegia of childhood is a rare syndrome of episodic hemiplegia that usually manifests in infancy with the follo...
Acute Symptomatic Seizures and Occasional Seizures
. Febrile convulsions are common and are defined as seizures occurring between the ages of 6 months and 5 years in association w...
Epileptic Syndromes
Anchor 605
. The term hypsarrhythmia in an EEG report is specific for a diagnosis of infantile spasms. The hypsarrhythmic EEG pattern is a ...
Anchor 607
Childhood
Paroxysmal Nonepileptic Disorders
. Migraine is a common disorder, and some episodes may be confused with seizures because of their paroxysmal nature and associat...
Anchor 611
Anchor 612
. Night terrors are a common phenomenon in children and are most frequent in boys aged 5–7 years. Up to 15% of children younger ...
. Somnambulism, or sleepwalking, is common in childhood. Approximately 15% of children have walked in their sleep, especially in...
. Repetitive purposeless movements may be performed by children on the autism spectrum or with cognitive disabilities. Combined ...
Acute Symptomatic Seizures and Occasional Seizures
Epileptic Syndromes
. Focal seizures and focal EEG discharges usually suggest the presence of a localized cerebral lesion. There is a group of idiop...
. These two conditions are age-­related epileptic encephalopathies with disturbances in language and cognition occurring in asso...
. The most common seizure type in children with focal epilepsy with an identified cause is the focal dyscognitive seizure. Focal...
. Childhood absence epilepsy is an idiopathic generalized epilepsy beginning in previously normal children between 4 and 12 year...
. Epilepsia partialis continua describes continuous focal motor seizures usually manifesting as repetitive clonic jerks of the f...
. Lennox-­Gastaut syndrome is characterized by generalized seizures and epileptiform discharges with delayed cognitive developme...
Adolescence
Paroxysmal Nonepileptiform Disorders
. Loss of consciousness with falling is the salient feature of syncope (see Chapter 7 and Table 39.25). Children may be able to ...
. Psychogenic nonepileptic seizures (PNESs) are events where the patient may have dramatic convulsions, stiffening, unresponsive...
Acute Symptomatic Seizures and Occasional Seizures
Epileptic Syndromes
. Juvenile myoclonic epilepsy has an onset between 12 and 18 years of age. The hallmark of the disorder is early-­morning myoclo...
. In comparison with childhood absence epilepsy, juvenile absence epilepsy has a later onset, at about the time of puberty, and ...
. This idiopathic generalized epilepsy involves GTC seizures occurring more than 90% of the time within 2 hours of awakening or ...
Rare Status Epilepticus Syndromes
Principles of Antiepileptic Drug Use
Stopping Antiepileptic Drugs
Lifestyle
40 - Movement Disorders in Childhood
40 - Movement Disorders in Childhood
Chief Complaint
History
Physical Examination
Movement Disorders in Childhood
40
Dystonia
Acute Dystonia
Infections
Inflammation
Acute Dystonic Reactions from Medications
Paroxysmal Dystonia
Paroxysmal Kinesigenic Dyskinesia
Sandifer Syndrome
Benign Paroxysmal Torticollis
Alternating Hemiplegia of Childhood
Chronic Dystonia
Primary Dystonia
Early-­Onset Dystonia
Dopa-­Responsive Dystonia
Symptomatic Dystonia
Wilson Disease
Lesch-­Nyhan Syndrome
Rasmussen Syndrome
Niemann-­Pick Type C
Management of Dystonia
Chorea/Athetosis/Ballismus
Acute Chorea
Sydenham Chorea
Acute Disseminated Encephalomyelitis
Drug-­Induced Chorea
Chronic Chorea
Benign Hereditary Chorea
Treatment
Ataxia
Clinical Observations in Children with Ataxia
Acute Cerebellar Ataxia
Causes of Chronic Ataxia
Glucose Transporter-­1 Deficiency Syndrome
Ataxia-­Telangiectasia
Evaluation and Testing in a Child with Ataxia
Tremor
Essential Tremor
Shudder Attacks
Tics
Tourette Disorder
Chronic Motor Tic or Vocal Tic Disorder
Provisional Tic Disorder
Stereotypies
Myoclonus
Neonatal Sleep Myoclonus
Hereditary Hyperekplexia
Essential Myoclonus
Dyskinetic Cerebral Palsy
Conditions That Mimic Movement Disorders
Epilepsia Partialis Continua
Psychogenic Movement Disorders
41 - Altered Mental Status
41 - Altered Mental Status
Altered Mental Status
Altered Mental Status
Altered Mental Status
Altered Mental Status
Altered States of Consciousness
Classification Systems
Differential Diagnosis
Simultaneous Diagnosis and Management Approach
Stabilization
Rapid Clinical Assessment
Rapid History
Rapid Physical Exam
General Physical Exam
Neurologic Exam
Motor System and Focal Findings
Signs of Increased Intracranial Pressure
Brainstem Functioning
Breathing Patterns
Pupillary Light Reflexes
Eye Movement Reflexes
Corneal Reflex
Body Position
Determining the Level of CNS Dysfunction
Detailed Investigation
Trauma
Primary Brain Diseases
Structural Brain Disease
Intracranial Hemorrhage and Thrombosis
Intracranial Tumor
Hydrocephalus
Nonstructural or Medical Primary Brain Disease
Seizures
Central Nervous System Infections
Inflammatory Diseases of the Central Nervous System
Toxic Encephalopathy
Level of Consciousness
Pupillary Examination
Vital Signs
Metabolic Encephalopathies
Inborn Errors of Metabolism
Bibliography
42 - Encephalitis
42 - Encephalitis
Etiology
Autoimmune Encephalitis
42
Evaluation
Encephalomyelitis
Acute Flaccid Paresis/Paralysis (Without Encephalopathy)
ADEM
COVID-19 ASSOCIATED CNS MANIFESTATIONS
43 - Eye Disorders
43 - Eye Disorders
Eye Disorders
Eye and Visual System Anatomy
Development of the Eye and Visual System
Amblyopia and Vision Screening
Visual Fields
Strabismus
Refractive Errors
Myopia
Hyperopia
Astigmatism
Anisometropia
Vision Impairment in Children
Retinopathy of Prematurity
Leukocoria and Retinoblastoma
Childhood Cataracts
Glaucoma in Childhood
Childhood Uveitis
Nasolacrimal Problems in Childhood
Red Eye
Eyelid Abnormalities
Orbital Tumors
Nonspecific Orbital Inflammation/Idiopathic Orbital Inflammation/Orbital Pseudotumor
Ocular Manifestations of Systemic Disease
Neurologic Disease
Dermatologic Disease
Hematologic Disorders
Congenital Heart Disease
Gastrointestinal Disorders
Genitourinary Disease
Endocrine Disease
Infectious Diseases
Nystagmus
Ocular Trauma
Hyphema
Eye Injuries in Child Abuse
Functional Vision Loss
Visual Complaints of Children
44 - Arthritis
44 - Arthritis
Arthritis
History
Pain Location
Pain Character
Pain Timing
Pain Acuity
Signs of Inflammation
Disability
Medical History
Medications
Family History
Social History
Review of Systems
Constitutional Symptoms
Skin Changes
Additional Symptoms
Physical Examination
Laboratory Studies
Antinuclear Antibody
Rheumatoid Factor
Additional Antibody Testing
Complement
Diagnostic Imaging
Radiographs
Ultrasound
Magnetic Resonance Imaging
Bone Scan
Additional Imaging Studies
Joint Fluid Aspiration
Invasive Testing
Juvenile Idiopathic Arthritis
Oligoarticular Juvenile Idiopathic Arthritis
Polyarticular Juvenile Idiopathic Arthritis
Enthesitis-­Related Arthritis
Psoriatic Arthritis
Systemic Juvenile Idiopathic Arthritis
Diagnosis
Systemic Lupus Erythematosus
Diagnosis
Dermatomyositis
Diagnosis
Scleroderma
Morphea
Linear Scleroderma
Systemic Sclerosis
Rheumatic Fever
IGA VASCULITIS/Henoch-­Schönlein Purpura
Myalgia
Complex Regional Pain Syndrome
45 - Gait Disturbances
45 - Gait Disturbances
Gait Cycle
Development of Gait
Clinical Evaluation of Gait Disturbances
History
Physical Examination
General Musculoskeletal Examination
. The most accurate method of measuring lower extremity length is with radiographs; however, if radiographs are not readily avai...
. The ranges of motion of the hips, knees, ankles, and subtalar joints must be assessed. Hip flexion is measured, as are any fle...
45
. Spinal mobility should be assessed because abnormalities such as spondylolysis, nerve root impingement, diskitis, and tumors m...
Neurologic Evaluation
Radiographic Assessment
Laboratory Tests
Gait Disturbances
Torsional Variations
Normal Developmental Alignment
Torsional Profile
. The foot progression angle, which is the direction of the long axis of the foot with regard to the direction in which the chil...
. Measuring hip rotation allows for indirect assessment of femoral version. Typically, the femoral neck creates an anteriorly di...
. With the child in the prone position and the knees approximated and flexed 90 degrees, the long axis of the foot in the neutra...
. With the child again in the prone position, the shape of the foot is easily appreciated, allowing for assessment of children w...
In-­Toed Gait
. Increased femoral anteversion, also referred to as internal femoral torsion, is the most common cause of in-­toeing in childre...
. Gait assessment reveals that the entire lower extremity is inwardly rotated during ambulation. Foot progression angle is typic...
. Radiographic evaluation of internal femoral torsion is not necessary. Anteroposterior radiographs of the pelvis are typically ...
. Internal tibial torsion is the most common cause of in-­toeing in children younger than 2 years and is secondary to normal in ...
. The degree of tibial torsion can be assessed by measuring the thigh-­foot angle (see Fig. 45.6). The measurements should be re...
. Radiographic evaluation of internal tibial torsion is not necessary. MRI and CT can assess the degree of tibial torsion, but t...
. Metatarsus adductus is the most common congenital foot deformity, occurs equally in boys and girls, and is bilateral in approx...
. In metatarsus adductus, the forefoot is adducted and occasionally supinated, while the hindfoot and midfoot are normal. A visu...
. Radiographs of the foot are not necessary for routine, flexible metatarsus adductus. When obtained, anteroposterior and latera...
. Talipes equinovarus is classified as either positional or congenital. Positional clubfoot is a normal foot that has been held ...
Out-­Toed Gait
. Femoral retroversion, also referred to as external femoral torsion, is a rare disorder that usually causes no significant func...
. Children with external femoral torsion demonstrate limited internal rotation and excessive external rotation when the hip is e...
. Anteroposterior and frog-­leg lateral radiographs of the pelvis are necessary for any child or adolescent presenting with exte...
. External tibial torsion is common and is secondary to a normal variation of in utero positioning in which the plantar surface ...
. External tibial torsion results in a positive thigh-­foot angle of 30–50 degrees
. Radiographic assessment for external tibial torsion is not necessary
. The calcaneovalgus foot is common in newborns and is secondary to in utero positioning (see Fig. 45.10). The foot is hyperdors...
. The involved extremity demonstrates out-­toeing, the dorsum of the foot can easily be brought into contact with the anterior a...
. Simulated weight-­bearing anteroposterior and lateral radiographs with forced plantarflexion of the foot may be necessary to d...
. Hypermobile, flexible, or pronated feet are flatfeet, a common cause of concern to parents. Children with this deformity are u...
. In the non–weight-­bearing position in the older child with a flexible flatfoot, the normal medial longitudinal arch is visibl...
. Radiographs of asymptomatic flexible flatfeet are usually not indicated. Standing anteroposterior oblique and lateral weight-­...
Equinus Gait (Toe-­Walking)
Neuromuscular Disorders
. The examination of a child with toe-­walking secondary to cerebral palsy reveals either an Achilles contracture or a spastic e...
. Radiographic evaluation of a child with toe-­walking is rarely necessary. MRI of the brain and spine is occasionally required ...
. Dynamic electromyography, nerve conduction studies, and gait analysis studies can be helpful in distinguishing among toe-­walk...
Lower Extremity Length Discrepancy
. Examination of a child with a lower extremity length discrepancy shows shortness of the involved extremity; this can be measur...
. Children with a lower extremity length discrepancy require radiographic assessment. Lower extremity lengths are typically meas...
Habitual Toe-­Walking
. The findings in the examination of the child with habitual toe-­walking are normal. The ankle has a full range of motion, and ...
. Radiographic evaluation is not indicated
Idiopathic Toe-­Walking
. If present, Achilles tendon contracture leads to an inability to dorsiflex the foot to the neutral or plantigrade position. Ex...
. Radiographs are not necessary unless an associated abnormality within the foot is thought to be present. Should this occur, an...
Limping
Antalgic Gait
. Tarsal coalition, also called peroneal spastic flatfoot, is characterized by a painful, rigid valgus or pronation deformity of...
. The onset of symptoms is insidious and usually occurs during late childhood or early adolescence. Although mild limitation of ...
. The diagnosis of tarsal coalition is made radiographically. The initial radiographs should include anteroposterior, oblique, a...
Developmental origin
. Legg-­Calvé-­Perthes disease (LCPD) is idiopathic avascular necrosis of the CFE and its associated complications in an immatur...
. The symptomatic onset of LCPD typically occurs between 2 and 12 years of age, at a mean age of 7 years. Younger age at present...
. The diagnosis is typically made from anteroposterior and frog-­leg lateral radiographs of the pelvis (Fig. 45.12). The radiogr...
. SCFE is the most common adolescent hip disorder. It generally occurs in obese adolescents with delayed skeletal maturation, or...
. The physical findings depend on the degree of slippage and the classification. The disorder is classified as either stable or ...
. The diagnosis of SCFE is confirmed radiographically. Anteroposterior and frog-­leg lateral radiographs of the pelvis must be o...
Trauma
. Sprains are ligamentous injuries, whereas strains are musculotendinous injuries. Contusions are the result of a direct injury ...
. In sprains, the physical examination typically reveals that the involved ligament is tender to direct palpation. There may be ...
. In children who sustain severe sprains, strains, or contusions evidenced by limping, swelling, or deformity, anteroposterior a...
. Occult fractures of the tibia are a relatively common cause of limping or refusal to bear weight in very young children. They ...
. Physical findings in a child with an occult fracture can be subtle. There is usually minimal, if any, soft tissue swelling. Th...
. Anteroposterior and lateral radiographs should be obtained (Fig. 45.15). The characteristic finding of a toddler’s fracture is...
. Benign and malignant neoplastic lesions that involve bone, cartilage, or soft tissue of the spine, pelvis, and lower extremiti...
. The most common benign lesions that produce limping include a unicameral (simple) bone cyst and osteoid osteoma (Table 45.7). ...
. Most benign neoplasms are visible on anteroposterior and lateral radiographs of the symptomatic area. Characteristics of benig...
. Leukemia is the most common childhood malignancy and is frequently accompanied by musculoskeletal complaints, such as limping,...
. A careful musculoskeletal and neurologic examination is necessary for any child with a suspected neoplasm. In many cases, a ma...
. Anteroposterior and lateral radiographs of the involved area usually reveal the presence of a neoplasm. Characteristics of a m...
Infection and inflammation
. Bone and joint infections are common causes of limping in toddlers and children. When the infection is confined to the synoviu...
. Children with acute bone and joint infections may exhibit bacteremia and signs of infection, including elevations in temperatu...
. Plain radiographs are not helpful in the first 7–10 days of acute hematogenous osteomyelitis, inasmuch as they are usually nor...
. Diskitis, inflammation of the vertebral disk that is often related to infection, may produce refusal to walk and/or limping vi...
. Juvenile inflammatory arthritides affecting the hip, knee, or ankle joints can result in an antalgic gait (see Chapter 44). Im...
. Transient synovitis of the hip (also known as toxic synovitis) is the most common cause of limping in children. It can occur i...
. The patient is usually ambulatory, and the hip is not held in a position of flexion, abduction, or external rotation unless a ...
. Anteroposterior and frog-­leg lateral radiographs of the pelvis are obtained to rule out the presence of other lesions. The ra...
Trendelenburg Gait
. Developmental dysplasia of the hip (DDH) refers to the condition of increased laxity of the hip joint and encompasses the foll...
. The most common physical finding in the older child with a developmentally dysplastic hip is limited hip abduction on the invo...
. The diagnosis can be made from routine anteroposterior and frog-­leg lateral radiographs of the pelvis (Fig. 45.21). Specializ...
. Lower extremity length discrepancy in older children and adolescents has been discussed earlier in this chapter
Neuromuscular Origin
. Children with spastic hemiplegia or diplegia may have an associated painless limp caused by muscle spasticity and concomitant ...
. Nerve entrapment lower extremity mononeuropathies may produce a limp or abnormal gait secondary to pain or muscle weakness (Ta...
46 - Back Pain
46 - Back Pain
Back Pain
Normal Anatomy, Growth, and Development of the Spine
Normal Spinal Alignment
Evaluation of the Pediatric Spine
Back Pain of Brief Duration
Persistent Back Pain
Differential Diagnosis (Table 46.2)
Specific Diagnoses
Spondylodiskitis
Clinical Findings
Treatment
Spondylolysis and Spondylolisthesis
Clinical Findings
Treatment
Intervertebral Disk Herniation
Clinical Findings
Treatment
Idiopathic Kyphosis
Scoliosis
Etiology
Classification
. Infantile idiopathic scoliosis is rare in the United States, accounting for <1% of new cases of idiopathic scoliosis. It is mo...
. Juvenile idiopathic scoliosis begins before the adolescent growth spurt. Some curves are probably undetected cases of infantil...
. Most cases of idiopathic scoliosis in North America develop around the time of the adolescent growth spurt (Figs. 46.16 and 46...
School Screening Programs
Natural History
Treatment
Syringomyelia
Tumors of the Spinal Column
Primary Lesions of Bone
Tumors of Neural Elements
Leukemia and Lymphoma
Mechanical Back Pain
47 - Hypermobility
47 - Hypermobility
Evaluating Hypermobility
Connective Tissue and Its Role in These Disorders
Hypermobility Spectrum Disorders
Diagnostic Characterization of Hypermobility
47
Closing Considerations
Bibliography
48 - Lymphadenopathy and Neck Masses
48 - Lymphadenopathy and Neck Masses
Lymphadenopathy and Neck Masses
Mechanism of Lymphadenopathy
History
Physical Examination
Size
Quality
Distribution
Evaluation and Management Strategies
Regional Lymphadenopathy: General Evaluation Principles
Generalized Lymphadenopathy: General Evaluation Principles
Lymphadenopathy Patterns
. Pharyngeal infection is the most common cause of regional lymphadenopathy in children (see Chapter 2). Many of these pharyngea...
. Bacterial infections of the skin and soft tissues are common causes of localized lymphadenopathy and adenitis and can lead to ...
. Infection with EBV is a common cause of both regional (bilateral cervical) and diffuse lymphadenopathy (see Chapter 2). This v...
. Infection with CMV in immuno­competent children can result in a mononucleosis syndrome with atypical leukocytosis and lymphade...
. Cat-­scratch disease is caused by a small gram-­negative bacillus, B. henselae, which can also cause bacillary angiomatosis in...
. Chronic granulomatous disease (see Chapter 54) comprises a group of rare inherited disorders of neutrophil function, character...
. Initial infection with HIV may manifest as a heterophile-­negative mononucleosis-­like acute retroviral syndrome consisting of...
. Tubercular cervical adenitis is not common in the United States, though can be associated with ingestion of raw, contaminated ...
. Toxoplasma gondii is a protozoan organism that is a parasite of cats. Many other animals, including humans, can be incidentall...
. Syphilis, caused by the spirochete Treponema pallidum, is common in the United States (see Chapter 21). The natural course of ...
. Lymphade­no­pathy is frequently among the presenting findings in patients with leukemia or lymphoma. Enlarged lymph nodes may ...
. Ulceroglandular (lymphocutaneous) disorders usually involve an initial injury or bite to an extremity with a resulting cutaneo...
. Kimura disease is characterized by the development of benign, nontender subcutaneous nodules in the head and neck with associa...
. Kikuchi disease is a rare, usually self-­limiting disease with onset in late childhood through early adolescence, usually pres...
. This rare non-­Langerhans histiocytosis typically presents with massive, bilateral, painless, and mobile cervical lymphadenopa...
. Castleman disease is an uncommon lymphoproliferative disease usually seen in adolescents or young adults. Enlargement of a sin...
. Kawasaki disease (see Chapter 53) is a medium-­vessel vasculitis of childhood of uncertain etiology. The hallmark of Kawasaki ...
Mimics of Head and Neck Lymphadenopathy: Head and Neck Masses
Salivary Gland Lesions
Thyroid Lesions
Developmental Anomalies and Soft Tissue Tumors
49 - Pallor and Anemia
49 - Pallor and Anemia
History
Physical Examination
49
Laboratory Evaluation
Classification of Anemia
Reticulocyte Count
Red Blood Cell Size
Red Blood Cell Morphology
Other Laboratory Abnormalities Associated with Anemia
Diagnostic Work-­up
Differential Diagnosis of Anemia
Anemia Secondary to Acute Blood Loss
Anemia Secondary to Underproduction
Microcytic Anemias
. Iron deficiency is the most common nutritional deficiency that causes anemia. Iron deficiency occurs due to either insufficien...
. The thalassemia syndromes represent a heterogeneous group of inherited disorders of decreased globin production that lead to m...
. The occurrence of elevated serum and total body burdens of lead is a major public health problem. This is of particular import...
. In a wide variety of chronic inflammatory or infectious disorders, mild to moderate anemia, termed anemia of inflammation (pre...
. Sideroblastic anemias are a group of very rare congenital (often X-­linked) inherited diseases associated with impairment of p...
Normocytic Anemia Secondary to Underproduction
Macrocytic Anemia (see Figs. 49.1 and 49.4)
. Diamond-­Blackfan anemia is a constitutional pure RBC aplasia syndrome that manifests during the first year of life with isola...
. Megaloblastic anemia, characterized by macrocytic RBCs with variable abnormalities of WBCs and platelets, is usually caused by...
Anemia Caused by Increased Red Blood Cell Destruction
Membrane Defects
Enzyme Defects
Hemoglobinopathies
Acquired Autoimmune Hemolytic Anemia
Anemia in the Neonate
Neonatal Anemia Caused by Blood Loss
Neonatal Anemia Caused by Decreased Red Blood Cell Production
Neonatal Anemia Caused by Increased Red Blood Cell Destruction
50 - Pancytopenia-Aplastic Anemia-Bone Marrow Failure
50 - Pancytopenia/Aplastic Anemia/Bone Marrow Failure
Physical Findings
Laboratory Evaluation
Hypocellular Marrow
Inherited
Fanconi Anemia
Dyskeratosis Congenita
Pancytopenia/Aplastic Anemia/Bone Marrow Failure
50
Shwachman-­Diamond Syndrome
Congenital Amegakaryocytic Thrombocytopenia
Other Genetic Syndromes
Acquired
Infections
Immune Diseases
Pregnancy
Paroxysmal Nocturnal Hemoglobinuria
Marrow Replacement
Malignant Infiltration
Myelodysplasia
Nonmalignant Causes of Infiltration That Lead to Pancytopenia
Megaloblastic Anemia
Vitamin B12
Folate Deficiency
Increased Reticulocytes/Evidence of Hemolysis
Coombs Positive
Autoimmune
Coombs Negative
Sepsis/Shock
Splenic Sequestration and Hypersplenism
51 - Bleeding and Thrombosis
51 - Bleeding and Thrombosis
Bleeding and Thrombosis
Coagulation Cascade
Coagulation Inhibitors
Antithrombin
Protein C/Protein S System
Fibrinolytic System
Platelet-­Endothelial Cells Axis
Developmental Hemostasis
History
Physical Examination
Coagulation Screening Tests
Prothrombin Time and Partial Thromboplastin Time
Bleeding Time
Platelet Function Analysis
Thrombin Time and Reptilase Time
Mucocutaneous Bleeding
Neonatal Thrombocytopenia
Child Abuse
Chronic/Insidious Onset of Mucocutaneous Bleeding
Platelet Function Defects
Chronic Thrombocytopenic Syndromes
Deep Bleeding
Surgical Bleeding
Generalized Bleeding
Neonatal Purpura Fulminans
Other Causes of Generalized Bleeding
Thrombosis
Venous Thromboembolic Disease
Diagnostic Approach
Specific Diagnostic Studies
Thrombophilia Testing
Arterial Thrombosis
Anticoagulant Therapy
Parenteral Therapy
Unfractionated Heparin
Fibrinolytic Therapy
Warfarin
Direct Oral Anticoagulant Therapy
52 - Fever
52 - Fever
Definitions
Pathophysiology of Fever
52
Fever Without Source
History
Temperature Measurement
Physical Examination
Observational Scales
Differential Diagnosis
Urinary Tract Infections
Bacteremia
Meningitis
Complete Blood Count and Other Markers of Inflammation
Molecular Testing
Blood Cultures
Urinalysis and Urine Culture
Lumbar Puncture
Chest Radiographs
Stool Cultures
Evaluation and Management
Children Younger Than 3 Months
Children Aged 3–36 Months
Children Older Than 36 Months
Fever with Localizing Signs: Focus on Central Nervous System Infections
Bacterial Meningitis
Diagnostic studies
. The definitive diagnosis of meningitis is based on examination of the CSF. The CSF is usually obtained via an LP (or spinal ta...
. Routine CT of the head is not indicated in children with suspected meningitis. Nonfocal increases in intracranial pressure typ...
. Bacterial meningitis is usually accompanied by elevated peripheral blood WBC and platelet counts, but leukopenia and thrombocy...
Aseptic Meningitis
. The most common pathogens to cause viral meningitis are enteroviruses. Enteroviral meningitis occurs most often during the sum...
. Tuberculous meningitis is an important treatable cause of aseptic meningitis. During the primary pulmonary tuberculous infecti...
Encephalitis and Meningoencephalitis
Fever of Unknown Origin
History
Physical Examination
Eyes
Ears, Nose, and Throat
Neck
Heart, Lungs, and Abdomen
Musculoskeletal Evaluation
Skin
Diagnostic Studies
Cause
Infectious Syndromes Causing Fever of Unknown Origin
. Bacterial endocarditis is rare in children; incidence increases with advancing age and history of pre-­existing heart disease ...
. Both upper and lower UTIs may present without localized pain or dysuria. Leukocytes may be absent in urine early in infection ...
. Factors that decrease the size and patency of the ostium or impair the mucociliary transport system predispose a child to sinu...
. Focal abscess not apparent on physical examination may present with FUO. Liver abscess may manifest with right upper quadrant ...
. Bacterial osteomyelitis in childhood is usually seeded from a hematogenous source, but it sometimes follows penetrating injury...
. Acute rheumatic fever may initially present as FUO, but diagnosis requires the development of a localizing sign or symptom. Ea...
Bacterial Pathogen Causes of Fever of Unknown Origin
. Lyme disease is caused by the spirochete Borrelia burgdorferi and is transmitted by the Ixodes scapularis and Ixodes pacificus...
. Cat-­scratch disease is a febrile illness associated with cats (usually kittens or cats in the first 2 years of life) and, mor...
. Q fever occurs as an acute or chronic infection caused by Coxiella burnetii. It manifests with headache, fever, chills, malais...
. Rat-­bite fever is a relapsing fever caused by Streptobacillus moniliformis or Spirillum minus. Both organisms live in the upp...
. Francisella tularensis is the causative agent of tularemia. The disease is spread by contact with wild animals, such as rabbit...
. Brucellosis is caused by several bacterial species including Brucella abortus, Brucella melitensis, Brucella suis, and Brucell...
. Leptospirosis is caused by members of the spirochete genus Leptospira. Infection is spread by contact with the urine of wild o...
. Psittacosis and lymphogranuloma venereum are chlamydial causes of FUO. Chlamydia psittaci may be transmitted by infected birds...
. Transmission of the causative agent for Rocky Mountain spotted fever, Rickettsia rickettsii, occurs by tick bite. This disease...
Fungal Pathogen Causes of Fever of Unknown Origin
Viral Pathogen Causes of Fever of Unknown Origin
. CMV may cause a mononucleosis-­like syndrome (heterophile-­negative mononucleosis) in children. Generalized or cervical adenop...
. Infectious mononucleosis is typically caused by EBV and may manifest with fever, exudative pharyngitis, malaise, and fatigue (...
. Infection with HIV may cause FUO in children. The fever is typically due to associated opportunistic infections or malignancie...
Parasitic Pathogen Causes of Fever of Unknown Origin
Infections in Children with Fever of Unknown Origin Who Live in or Have Traveled to Countries with Certain Endemic Infections or...
Malaria
Viral Hepatitis
Typhoid Fever (Enteric Fever)
Tuberculosis
Amebiasis
Rheumatic Causes of Fever of Unknown Origin
Juvenile Idiopathic Arthritis
Polyarteritis
Systemic Lupus Erythematosus
Behçet Syndrome
Neoplasms
Hodgkin Lymphoma
Lymphoma
Neuroblastoma
Leukemia
Pheochromocytoma
Miscellaneous Causes of Fever of Unknown Origin
Genetic Diseases (See Chapter 54)
Drug Fever
Kawasaki Disease
Inflammatory Bowel Disease
Thyrotoxicosis
Factitious Disorders
Patients with Fever of Unknown Origin in Whom No Diagnosis Is Made
53 - Fever and Rash
53 - Fever and Rash
Fever and Rash
History
Examination
53
Specific Skin Lesions
Maculopapular Eruptions
Petechiae and Purpura
Vesiculobullous Eruptions
Nodules
Ulcers
Erythema
Other Physical Examination Findings
Joint Manifestations
Cardiac Manifestations
Ocular Manifestations
Neurologic Manifestations
Pulmonary Manifestations
Clusters of Findings
Diagnostic Studies
Laboratory Tests
Histopathology
Other Diagnostic Studies
Diagnosis and Decision Making
Clinical Syndromes
Kawasaki Disease
Toxic Shock Syndrome
Staphylococcal Toxic Shock Syndrome
Streptococcal Toxic Shock Syndrome
Erythema Multiforme
Stevens-­Johnson Syndrome, Toxic Epidermal Necrolysis, and Staphylococcal Scalded Skin Syndrome
Serum Sickness and Serum Sickness–Like Reaction
Henoch-­Schönlein Purpura (IgA Vasculitis)
Other Disorders
Management of Fever and Rash
54 - Recurrent Fever, Immune Deficiency, and Autoinflammatory Disorders
54 - Recurrent Fever, Immune Deficiency, and Autoinflammatory Disorders
History and Physical Examination
History
54
Perinatal History
Anatomic Abnormalities
Asplenia
Family History
Environmental History
Physical Examination
Diagnostic Categories
The Patient Who Is Probably Healthy
The Patient with Hereditary Inflammatory Disorders
Familial Mediterranean Fever
Cryopyrin-­Associated Periodic Syndromes
Hyperimmunoglobulin D Syndrome
Deficiency of the Interleukin-­1 Receptor Antagonist
TNF Receptor–Associated Periodic Syndrome
Deficiency of Adenosine Deaminase 2
Interferonopathies
STING-­Associated Vasculopathy
NF-­κB Related Disorders
The Immunodeficient Patient
Humoral Immune Disorders
X-­Linked Agammaglobulinemia
Common Variable Immunodeficiency
Transient Hypogammaglobulinemia of Infancy
Immunoglobulin A Deficiency
Specific Antibody Deficiency
Hyperimmunoglobulin M Syndrome
Combined Immunodeficiency Disorders
Severe Combined Immunodeficiency
Combined Immune Deficiencies
Purine Nucleoside Phosphorylase Deficiency
Hyperimmunoglobulin E Syndrome
Wiskott-­Aldrich Syndrome
Ataxia-­Telangiectasia
Cartilage-­Hair Hypoplasia
Complement System Deficiencies
Diagnosis of Complement Deficiencies
Phagocytic Disorders
Disorders of Neutrophil Numbers
Inherited Forms of Neutropenia
Acquired Neutropenia
Disorders of Neutrophil Adhesion and Chemotaxis
Disorders of Neutrophil Function
Disorders of Macrophage Function
Immune Disregulation Syndromes
Hemophagocytic Lymphohistiocytosis
X-­Linked Lymphoproliferative Disease Type 1 and Type 2
CD25 Deficiency
Cytotoxic T-­Lymphocyte Antigen 4 Deficiency
Autoimmune Lymphoproliferation Syndrome
55 - Disorders of Puberty
55 - Disorders of Puberty
Normal Pubertal Development
Terminology
Anatomy
Physiology
Perinatal Period and Infancy
Childhood
Adolescence
55
Sex Steroid Effects
Chronology of Puberty
Females
Males
Clinical Staging of Puberty
Females
Males
Females and Males
Family Patterns
Precocious Puberty
Definition
Normal Variants
Idiopathic Isolated Premature Thelarche
Idiopathic Isolated Precocious Adrenarche
Isosexual Central Precocious Puberty
Incomplete Isosexual Precocity (Precocious Pseudopuberty)
Androgen Exposure or Overproduction
. Ovarian tumors producing androgens (thecoma) and sometimes also estrogen may be palpable on physical examination and are usual...
. If both testes are slightly increased in volume and testosterone levels are increased but LH and FSH levels are low, there are...
Estrogen Overproduction
. This disorder (Fig. 55.9) consists of the clinical triad of polyostotic fibrous dysplasia, hyperpigmented macules (café-­au-­l...
. Neurofibromatosis type 1 can present with precocious puberty secondary to a hypothalamic tumor. Pseudo-­thelarche/gynecomastia...
Vaginal Bleeding
Gynecomastia
Diagnostic Approach to Precocious Puberty
Treatment of Precocious Puberty
General Issues
Central Precocious Puberty
Precocious Pseudopuberty (Incomplete Isosexual Precocity)
Delayed or Absent Puberty
Differential Diagnosis
Constitutional (Self-­Limited) Delay of Growth and Puberty
Hypogonadotropic Hypogonadism
. This is the combination of an impaired or absent sense of smell and gonadotropin deficiency. Other features include color blin...
Hypergonadotropic Hypogonadism: Males
. This occurs in 1:500 males and is often associated with a 47,XXY karyotype; common features include cognitive delays, adolesce...
Hypergonadotropic Hypogonadism: Females
. The two most common features of Turner syndrome are short stature (involving the limbs to a greater degree than the trunk) and...
Females with Delayed or Absent Adrenarche
Diagnostic Approach to Delayed Puberty
Treatment of Delayed Puberty
Bibliography
56 - Short Stature
56 - Short Stature
Normal Growth
Fetal Growth and Birth Size
Postnatal Growth Patterns
Short Stature
56
Measuring a Child
Body Proportions
Familial and Genetic Factors
Ethnic Factors and Secular Trend
General Well-­Being
Psychological Factors
Endocrine Regulation of Growth
Bone Age
Causes of Short Stature
Normal Variants
Familial Short Stature
Constitutional Delay of Growth and Puberty
Idiopathic Short Stature
Small for Gestational Age
Endocrine Disorders
Growth Hormone Deficiency
Growth Hormone Deficiency Presenting in the Neonatal Period
Growth Hormone Deficiency in Childhood
Acquired Growth Hormone Deficiency
Growth Hormone Insensitivity
Hypothyroidism
Glucocorticoid Excess (Cushing Syndrome)
Genetic Causes of Short Stature
Turner Syndrome
Down Syndrome
Prader-­Willi Syndrome
Russell-­Silver Syndrome/Silver-Russell Syndrome
Short Stature HomeoboX (SHOX) Gene Variants
Noonan Syndrome
Malnutrition
Chronic Illness
Emotional Deprivation
Iatrogenic Causes
Bone Dysplasias
Achondroplasia
Hypochondroplasia
Osteogenesis Imperfecta
Evaluating the Child with Short Stature
Important Considerations in the History
Pregnancy and Birth History
Infancy and Childhood
Review of Systems
Family History
Physical Examination
Therapeutic Options
Specific Treatment of the Primary Disorder
Sex Steroids
Estrogen
Counseling
Growth Hormone Therapy
Other Treatments
57 - Hypoglycemia
57 - Hypoglycemia
Hypoglycemia
57
Clinical Manifestations
Normal Newborns
Infants of Diabetic Mothers
Perinatal Stress-­Induced Hyperinsulinism
Erythroblastosis Fetalis
Intrapartum Maternal Glucose Administration
Maternal Drug Therapy
Beckwith-­Wiedemann Syndrome
Hyperinsulinism
Recessive KATP Channel Hyperinsulinism
Focal KATP Channel Hyperinsulinism
Dominant KATP Channel Hyperinsulinism
Dominant Glutamate Dehydrogenase Hyperinsulinism
Dominant Glucokinase Hyperinsulinism
Insulinoma
Insulin Reaction, Oral Hypoglycemic Agents, and Surreptitious Insulin Administration
Counter-­Regulatory Hormone Deficiencies
Hypopituitarism
Isolated Cortisol Deficiency
Epinephrine Deficiency
Metabolic Enzyme Defects
Hepatic Gluconeogenesis
. This is the most common form of the glycogen storage disorders, although (see Fig. 57.1) deficiency of glucose-­6-­phosphatase...
. A small number of infants have been described with a combination of hepatomegaly, increased liver glycogen store, renal Fancon...
. This defect blocks gluco­neo­genesis immediately above the triose-­phosphates (see Fig. 57.1). Affected children present in th...
. Pyruvate carboxylase is one of the four key gluconeogenic enzymes (see Fig. 57.1). It also plays an important role in pyruvate...
Hepatic Glycogenolysis
. Children with this disorder usually present in the first year of life with growth delay and massive hepatomegaly. Symptomatic ...
. The manifes­tations of either of these two enzyme defects clinically resemble a very mild form of debrancher enzyme deficiency...
. A small number of patients with deficiency of glycogen synthase have been reported. They have presented with episodes of sympt...
Fatty Acid Oxidation Disorders
Other Metabolic Causes of Hypoglycemia
. Isolated hypoglycorrhachia (low cerebrospinal fluid glucose level) in association with normal concentrations of plasma glucose...
. Hereditary fructose intolerance is caused by a recessively inherited deficiency of hepatic fructose-­aldolase, which transform...
. This is a serious inborn error of metabolism wherein many of the long-­term consequences of the metabolic defect can potential...
Reactive Hypoglycemia
. Affected children have fasting hypoglycemia but, because of their leucine sensitivity, may also develop symptomatic hypoglycem...
. Like patients who have had gastric surgery, infants who have undergone Nissen fundoplication procedures for gastroesophageal r...
. Patients with this disorder develop acute abdominal discomfort and hypoglycemia within a short period of time after an oral lo...
Ketotic Hypoglycemia
Diagnosis of Hypoglycemia
Critical Samples
Fasting Study
Useful “Casual Specimen” Tests
Glucagon Stimulation
Acute Insulin Response Tests for Hyperinsulinism
Plasma Acyl-­Carnitine Profile
Urinary Organic Acid Quantitation
Cultured Cells
Genetic Analysis
Treatment of Hypoglycemia
58 - Polyuria and Urinary Incontinence
58 - Polyuria and Urinary Incontinence
Polyuria and Urinary Incontinence
Polyuria and Urinary Incontinence
Polyuria and Urinary Incontinence
Polyuria and Urinary Incontinence
Voiding Physiology
Toilet Training
Urine Volume and Solute Diuresis
History
Polyuria
Voiding History
Primary Nocturnal Enuresis
Behavioral Issues
Physical Examination
Diagnosis
Laboratory Assessment
Imaging and Cystometry
Differential Diagnosis
Primary Nocturnal Enuresis
Daytime Urinary Incontinence
. Daytime urinary frequency is characterized by frequency and urgency as often as every 15–20 minutes. This is usually associate...
. There are two extremes in the spectrum of moderate dysfunctional voiding. Over time, voiding postponement, or urine holding, a...
. This is often referred to as the non-­neurogenic neurogenic bladder (Hinman syndrome), a syndrome representing the extreme end...
. Giggle incontinence is most often seen in females and is characterized by incontinence after laughter. It too is usually self-...
Neuropathic Bladder
Anatomic Defects
. This is the most common form of urinary obstruction leading to kidney failure in male infants and children. It is a result of ...
. This is a result of duplication of the ureteric bud during embryogenesis, causing a double collecting system, or two ureters. ...
. VUR is the retrograde flow of urine from the bladder into the ureters and kidney. Normal insertion of the ureter into the blad...
Metabolic Disorders
. This is an uncommon electrolyte disorder in children but can be observed in primary hyperparathyroidism, vitamin D intoxicatio...
. This is another electrolyte disorder that induces polyuria. In children, it occurs as a result of diuretic use, aldosterone ex...
. Polyuria and urinary incontinence can be the first symptoms of diabetes mellitus and are secondary to hyperglycemia and the os...
Central Diabetes Insipidus
Renal Concentrating Defects
. In distal (type 1) RTA, the most common form of RTA, there is a defect in the tubular secretion of hydrogen ions and decreased...
. Hemoglobin S is a genetic defect in hemoglobin A that results in red blood cells that deform under low oxygen tension (see Cha...
. Juvenile nephronophthisis is an autosomal recessive disorder that leads to end-­stage renal failure between preadolescence and...
. The congenital form of NDI is often diagnosed before toilet training, but it can lead to urinary incontinence in later childho...
Treatment
Primary Nocturnal Enuresis
Daytime Urinary Incontinence
Polyuria
Neuropathic Bladder and Anatomic Disorders
Bibliography
59 - Acid–Base and Electrolyte Disturbances
59 - Acid–Base and Electrolyte Disturbances
Acid–Base and Electrolyte Disturbances
Acid–Base Balance
Acid–Base Disorders
Symptoms of Acid–Base Disorders
Renal Regulation of Acid–Base Balance
Metabolic Acidosis
Normal Anion Gap (Hyperchloremic) Metabolic Acidosis
Renal Tubular Acidosis
Additional Causes of Renal Loss of Bicarbonate
Gastrointestinal Loss of Bicarbonate
Miscellaneous Causes of Hyperchloremic Acidosis
. During recovery from diabetic ketoacidosis (DKA), many patients may eliminate the organic anions (through increased renal clea...
Dilutional acidosis. The rapid expansion of ECF volume with fluids that do not contain leads to a dilution of and mild metabolic...
. Amino acid infusions without concomitant administration of alkali (or alkali-­generating precursors) may produce a normal anio...
Increased Anion Gap Acidosis
Increased Acid Production
. In DKA, the lack of insulin and excess of glucagon shunt free fatty acids into ketone body formation. The rate of formation of...
. Under normal conditions, lactate is formed in relatively small amounts and is further metabolized by the liver. Pathologic con...
. Most patients with inborn errors of metabolism that cause a metabolic acidosis present in the neonatal period or shortly there...
. A variety of toxic agents may be associated with increased anion gap metabolic acidosis; these include salicylate intoxication...
Failure of Acid Excretion
Treatment of Metabolic Acidosis
Metabolic Alkalosis
Factors Initiating Metabolic Alkalosis
Factors Responsible for Sustaining Alkalosis
Differential Diagnosis of Metabolic Alkalosis
Urinary Chloride Level Lower Than 15 mEq/L
. Although uncommon in developed countries, the ingestion of milk formula with low chloride content has been shown to result in ...
Upper gastrointestinal losses. The gastric fluid has a high H+ concentration; loss of gastric fluid by vomiting or by nasogastri...
. This is a rare congenital syndrome characterized by a defect in small-­ and large-­bowel chloride absorption that leads to a c...
. Chronic use of loop and thiazide diuretics may cause a metabolic alkalosis. The alkalosis is sustained because of hypochloremi...
. Chronic hypercapnia, as seen in bronchopulmonary dysplasia or cystic fibrosis, leads to an elevated serum bicarbonate concentr...
. Occasionally reported in infants with cystic fibrosis during excessive heat waves, chloride loss in sweat together with dehydr...
Urinary Chloride Level Higher Than 20 mEq/L with Hypertension
Urinary Chloride Level Higher Than 20 mEq/L with Normal Blood Pressure
. These uncommon disorders result from defects in various ion transporters within the nephron. Bartter syndrome is a severe diso...
Treatment of Metabolic Alkalosis
Respiratory Acidosis
Respiratory Alkalosis
Mixed Acid–Base Disorders
Potassium Disorders
Hypokalemia
Increased Renal Losses with Hypertension
Mineralocorticoid Excess
Liddle Syndrome
Increased Renal Losses with Normal Blood Pressure
Increased Extrarenal Losses
Redistribution
Consequences of Hypokalemia
Treatment of Hypokalemia
Hyperkalemia
Reduced Urinary Potassium Excretion
Renal Failure
Hypoaldosteronism
Drugs
Primary Tubular Defects
Increased Potassium Intake/Tissue Release
Redistribution
Consequences of Hyperkalemia
Treatment of Hyperkalemia
Sodium Disorders
Hyponatremia
Hypovolemic Hyponatremia
Euvolemic Hyponatremia
Hypervolemic Hyponatremia
Clinical Signs and Symptoms of Hyponatremia
Treatment of Hyponatremia
Hypernatremia
Hypovolemic Hypernatremia
Euvolemic Hypernatremia
Hypervolemic Hypernatremia
Clinical Signs and Symptoms of Hypernatremia
Treatment of Hypernatremia
Calcium Disorders
Hypocalcemia
Hypercalcemia
Rickets
Clinical Manifestations
60 - Congenital Cutaneous Lesions and Infantile Rashes
60 - Congenital Cutaneous Lesions and Infantile Rashes
Papules and Pustules—Diffuse or Scattered
Congenital Cutaneous Lesions and Infantile Rashes
60
Patches and Plaques
Fixed Lesions
Macules, Papules, and Pustules
Plaques and Patches
Pink (Vascular or Other)
Hyperpigmented or Darker Pigmented Lesions
Hypopigmented and Depigmented Lesions
Other
Cutis Marmorata
Harlequin Color Change
Acrocyanosis
Rare and Genetic Disorders
Epidermolysis Bullosa
Ichthyosis
Neutrophilic Dermatosis
Immune Disregulation
61 - Acquired Rashes in the Older Child
61 - Acquired Rashes in the Older Child
Acquired Rashes in the Older Child
History
Physical Examination
Primary Lesions
Secondary Lesions
Diagnostic Techniques
Potassium Hydroxide Test
Tzanck Smear
Scabies Test
Gram Stain
Wood Lamp Examination
Skin Biopsy
Dermatologic Disorders in Older Infants and Children
Scaling Disorders
Pityriasis Rosea
Psoriasis
Pityriasis Lichenoides
Lichen Planus
Seborrheic Dermatitis
Atopic Dermatitis
Vascular Lesions
Spider Angioma (Nevus Araneus)
Pyogenic Granuloma
Disorders of Pigmentation
Acquired Disorders of Hypopigmentation or Depigmentation
Postinflammatory Hypopigmentation
Pityriasis Alba
Vitiligo
Disorders of Hyperpigmentation
Lentigines
Café-­Au-­Lait Macules
Postinflammatory Hyperpigmentation
Acquired Melanocytic Nevi
Melanoma
Reactive Erythemas
Morbilliform Drug Eruption
Severe Cutaneous Adverse Reaction to Drugs
Fixed Drug Eruption
Hypersensitivity Reactions
Allergic Contact Dermatitis
Urticaria
Erythema Multiforme
Stevens-­Johnson Syndrome/Toxic Epidermal Necrolysis Complex
Bullous Lesions
Staphylococcal Scalded Skin Syndrome
Epidermolysis Bullosa
Purpura and Petechiae
Livedo Reticularis, Livedo Racemosa (Retiform Purpura)
Hair Loss
Alopecia Areata
Tinea Capitis
Traction Alopecia
Trichotillomania
Telogen Effluvium
Infections and Infestations
Impetigo
Nonbullous Impetigo
Bullous Impetigo
Molluscum Contagiosum
Warts
Common Warts
Flat Warts
Plantar Warts
Genital Warts
Herpes Simplex Virus
Varicella
Herpes Zoster
Scabies
Pediculosis
Candidiasis
Dermatophytoses
Tinea Capitis
Tinea Corporis
Tinea Pedis
Tinea Faciei
Tinea Cruris
Tinea Versicolor
Acne Vulgaris
Lumps and Bumps
Granuloma Annulare
Juvenile Xanthogranuloma
Erythema Nodosum