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دانلود کتاب Nelson Pediatric Symptom-Based Diagnosis: Common Diseases and their Mimics
دانلود کتاب تشخیص مبتنی بر علائم کودکان نلسون: بیماری های رایج و تقلیدهای آنها
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Nelson Pediatric Symptom-Based Diagnosis: Common Diseases and their Mimics
دسته بندی: اطفال ویرایش: نویسندگان: Robert M. Kliegman, Heather Toth, Brett J. Bordini, Donald Basel سری: ISBN (شابک) : 9780323761741 ناشر: Elsevier سال نشر: 2022 تعداد صفحات: 1300 زبان: English فرمت فایل : PDF (درصورت درخواست کاربر به PDF، EPUB یا AZW3 تبدیل می شود) حجم فایل: 48 مگابایت
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نسخه پاک شده با صفحه بندی اصلاح شده، جهت گیری صفحه و نشانک ها و همچنین واترمارک های حذف شده.
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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
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