Differential Diagnosis

Abdominal Mass

The clinical classification of abdominal masses in children can be divided according to neonatal and postneonatal causes. Approximately one half of abdominal masses in newborns involve the urinary tract. Constipation is the most common cause of an abdominal mass in the older child.

Neonatal

Urinary tract

• Hydronephrosis (obstructive uropathy)

  • Posterior urethral valves
  • Ureterocele
  • Prune belly syndrome

• Renal cystic dysplasia

• Polycystic kidney disease

• Glomerulocystic kidney disease

• Medullary cystic disease or juvenile nephronophthisis

• Simple renal cysts

• Wilms' tumor

• Renal vein thrombosis

• Renal hamartoma (mesoblastic nephroma)

• Ectopic kidney

• Other congenital abnormalities of kidneys

• Renal or perinephric abscess

• Distended bladder

Gastrointestinal system

• Pyloric stenosis

• Ileus (meconium)

• Bowel duplication

• Choledochal cyst

• Hydrops of gallbladder

Hepatomegaly

• Congestive heart failure

• Sepsis

• Congenital infections

  • Cytomegalovirus
  • Toxoplasmosis
  • Enterovirus
  • Herpes simplex virus
  • Syphilis
  • Rubella

• Biliary atresia

• Hemolytic anemia

• Neonatal hepatitis

• Peripheral hyperalimentation

• Hepatic cysts

• Hemangioma

Splenomegaly

• Sepsis

• Congenital infections (see “Hepatomegaly” earlier)

• Hemolytic anemia

• Portal vein thrombosis

  • Omphalitis
  • Umbilical vein catheterization

Neoplasms

• Neuroblastoma

• Teratoma

• Renal tumors (mentioned earlier)

Postneonatal

Urinary tract causes described earlier

Gastrointestinal system

• Constipation

• Intussusception

• Pancreatic pseudocyst

• Intestinal or appendiceal abscess

• Ileus

• Choledochal cyst

• Hydrops of the gallbladder

• Mesenteric cyst

Hepatomegaly (see Hepatomegaly and Hepatosplenomegaly in Section II)

Splenomegaly (see Splenomegaly, Isolated in Section II)

Genital tract

• Pregnancy

• Ovarian cyst

• Ovarian torsion

• Ovarian tumor

• Pelvic abscess

• Hematocolpos (imperforate hymen or vaginal atresia)

Neoplasms

• Neuroblastoma

• Teratoma

• Lymphoma

• Sarcoma

• Adrenal tumor

• Renal and ovarian tumors (mentioned earlier)

Abdominal Pain

Abdominal pain is any abdominal discomfort that may be acute or chronic, constant or intermittent, sudden or insidious. It may or may not be associated with other gastrointestinal (e.g., diarrhea, vomiting), genitourinary (e.g., dysuria, discharge, menorrhagia), infectious (e.g., fever, sore throat, headache, malaise), or systemic (e.g., lethargy, irritability, rash) findings.

Chronic

Common, general

• Abdominal tumors or masses

• Chronic pyelonephritis

• Constipation

• Dysmenorrhea

• Endometriosis

• Functional abdominal pain (i.e., chronic nonspecific abdominal pain of childhood and chronic recurrent abdominal pain)

• Gastritis

• Inflammatory bowel disease

• Irritable colon

• Lactose intolerance

• Medications

  • Antibiotics
  • Bronchodilators
  • Nonsteroidal anti‐inflammatory drugs
  • Ritalin

• Peptic ulcer disease (Helicobacter pylori infection)

• Psychogenic, anxiety related

• Reflux esophagitis

Less common

• Abdominal epilepsy

• Abdominal migraine

• Addison disease

• Collagen vascular disease

• Cystic fibrosis

  • Hypoxia
  • Medications
  • Pneumonia
  • With or without meconium plug or obstruction

• Diskitis

• Duplications along the gastrointestinal tract (usual presentation is obstruction)

• Dysrhythmias (palpitations and nausea)

• Heavy metal poisoning (lead, arsenic, mercury)

• Hematocolpos

• Mesenteric cysts

• Other spinal cord or spinal diseases

  • With or without constipation
  • With or without urinary findings
  • With or without gait abnormality

• Porphyria

• Superior mesenteric artery syndrome (especially with recent significant weight loss, usually with vomiting)

Acute

Many chronic causes of abdominal pain can manifest acutely. Other acute forms are listed here.

Infectious causes

• Abdominal, pelvic, or abdominal wall abscess

• Acute rheumatic fever

• Appendicitis

• Cholecystitis

• Food poisoning

• Hepatitis

• Infectious gastroenteritis, gastroenterocolitis, enterocolitis

• Pancreatitis (may be recurrent) or pancreatic cyst or pseudocyst

• Pelvic inflammatory disease (PID), Fitz‐Hugh‐Curtis syndrome (perihepatitis)

• Pericarditis

• Peritonitis

  • Acute bacterial
  • Subacute bacterial

• Pharyngitis or tonsillitis

• Pneumonia

• Pyelonephritis, cystitis (urinary tract infection)

• Zoster

Obstruction

• Acute hydrops

• Adhesions

• Choledochal or choledochal duct cyst

• Cholelithiasis (may be recurrent)

• Ectopic pregnancy

• Inguinal or femoral hernia with bowel strangulation or torsion

• Intussusception

• Meckel's diverticulum

• Ovary or ovarian cyst, torsion

• Renal stones (may be recurrent)

• Testicular torsion

• Volvulus

Causes not specifically categorized

• Abdominal muscle wall injury

• Acute abdomen due to vaso‐occlusive crisis in sickle cell disease

• Diabetic ketoacidosis (DKA)

• Duodenal hematoma

• Electrolyte abnormalities (ileus with hypokalemia, cramping with hypocalcemia, acute abdomen with acidosis)

• Familial dysautonomia

• Hemolytic crises

• Hemolytic uremic syndrome (HUS)

• Hyperlipoproteinemia

• Liver laceration or hematoma

• Mesenteric artery occlusion

• Mittelschmerz (recurrent)

• Ovarian cyst rupture

• Perforated viscus or abdominal blood vessel

• Peritonitis due to bleeding

• Spider bite (especially black widow)

• Splenic rupture

Inflammatory causes

• Hereditary angioneurotic edema (recurrent)

• Peritoneal inflammation (rheumatologic, vascular, familial Mediterranean fever)

• Vasculitis

Alopecia/Hair Loss

Alopecia refers to hair loss from the scalp. The differential diagnosis deals with acute causes of alopecia.

Tinea capitis (fungal infection)

Trauma

• Traction alopecia

• Trichotillomania

• Chemical burn

• Thermal burn

• Radiation

• Chemotherapy (anagen effluvium)

Alopecia areata (autoimmune)

• Alopecia totalis (loss of all hair on the scalp)

• Alopecia universalis (loss of all hair on the body)

Telogen effluvium

• Significant stress (hospitalization, childbirth, surgery, malnutrition, psychosocial stress)

• Drugs

  • Valproic acid
  • Coumadin
  • Heparin
  • Propranolol

Male‐pattern baldness

Polycystic ovary syndrome (PCOS)

Systemic diseases

• Systemic lupus erythematosus

• Scleroderma (morphea)

• Acrodermatitis enteropathica

• Hypoparathyroidism

Altered Mental Status

Altered mental status includes several different states of consciousness. Delirium is confusion and irrational behavior that is sometimes accompanied by excitability. Lethargy refers to sleepiness and disinterest in the environment. Stupor or obtundation refers to a state of unconsciousness from which a child can momentarily be aroused. Coma is a prolonged state of unconsciousness.

Head trauma

• Subdural hematoma

• Epidural hematoma

• Intracerebral hemorrhage

• Intraventricular hemorrhage

• Subarachnoid hemorrhage

• Concussion

• Contusion

• Cerebral edema

Infectious causes

• Sepsis

• Meningitis

• Encephalitis

• Postinfectious encephalomyelitis

• Brain abscess

• Subdural empyema

• Shigella infections

Drug intoxication, overdose, or reaction

• Alcohol

• Carbon monoxide

• Sedatives

• Benzodiazepines

• Narcotics

• Anticonvulsants

• Anticholinergics

• Neuroleptics

• Psychedelics

• Lead

• Aspirin

• Iron

• Cocaine

• Amphetamines

• Organophosphates

• Many others

Seizures

• Status epilepticus

• Postictal seizures

Neoplasms or brain tumors

Hydrocephalus or shunt malfunction

Hypertensive encephalopathy

Cerebrovascular disorders

• Arteriovenous malformation

• Venous thrombosis

• Aneurysm

• Stroke

Metabolic causes

• Hypoglycemia

• Diabetic ketoacidosis

• Uremia

• Hepatic encephalopathy

• Reye's syndrome

• Adrenal insufficiency

• Hyponatremia and hypernatremia

• Hypocalcemia and hypercalcemia

• Hypomagnesemia

• Inborn errors of metabolism

  • Amino acid disorders

    • Urea cycle defects
    • Tyrosinemia
    • Nonketotic hyperglycinemia
  • Organic acid disorders

    • Methylmalonic acidemia
    • Propionic acidemia
    • Maple syrup urine disease
    • Others
  • Carbohydrate disorders

    • Galactosemia
    • Pyruvate dehydrogenase deficiency
    • Others
  • Fatty acid disorders

    • Carnitine deficiencies
    • Acyl CoA dehydrogenase deficiency

Hypoxia or shock

Hypothermia or hyperthermia

Psychological causes

• Psychosis

• Conversion reaction

Other causes

• Intussusception

• Hemolytic uremic syndrome

• Narcolepsy

Amenorrhea

Amenorrhea is the absence of menses. Primary amenorrhea is defined as the absence of menarche by age 16 years in the presence of normal pubertal development or the absence of menarche by age 14 years in the absence of normal pubertal development or the absence of menarche 2 years after completion of sexual maturation. Secondary amenorrhea is defined as the absence of menstruation for at least three cycles or at least 6 months in females who have already established menstruation. It is helpful to divide the evaluation of amenorrhea into three categories: amenorrhea with normal pubertal development, amenorrhea with delayed pubertal development, and amenorrhea with abnormal genital examination findings.

Pregnancy

Hormonal contraception

Hypothalamic causes

• Chronic or systemic illness

• Eating disorder

• Hypothalamic‐pituitary axis immaturity

• Infiltration (hemochromatosis)

• Isolated gonadotropin‐releasing hormone (GnRH) deficiency

• Kallmann's syndrome (defect in olfaction)

• Obesity

• Strenuous exercise

• Stress

• Substance abuse

• Tumor (craniopharyngioma)

Pituitary

• Hypopituitarism

• Infiltration (hemochromatosis)

• Infarction

  • Sheehan's syndrome
  • Sickle cell disease

• Tumor (prolactinoma)

Adrenal causes

• Congenital adrenal hyperplasia

  • Classic
  • Nonclassic

Ovarian causes

• Agenesis (46,XX)

• Dysgenesis (Turner syndrome, 45,XO or variant)

• Hyperandrogenic chronic anovulation (polycystic ovary syndrome)

• Premature ovarian failure

  • Autoimmune disorders
  • Chemotherapy
  • Radiation

• Tumor

Uterus, cervical, and vaginal abnormalities

• Agenesis (Mayer‐Rokitansky‐Küster‐Hauser syndrome)

• Androgen insensitivity syndrome (testicular feminization)

• Imperforate hymen

• Synechiae (Asherman's syndrome)

• Transverse vaginal septum

Other causes

• Endocrinopathies

  • Thyroid disease
  • Cushing syndrome

• Prader‐Willi syndrome

• Laurence‐Moon‐Biedl syndrome

Anemia

Anemia is a reduction in the number of red blood cells (RBC) or a low hemoglobin concentration. Anemia can be microcytic (small RBCs, low MCV), normocytic, or macrocytic (large RBCs, high MCV).

Microcytic anemia

• Low reticulocyte count

  • Iron deficiency (nutritional, blood loss, hemorrhagic, gastrointestinal loss)
  • Lead poisoning
  • Celiac disease
  • Chronic disease
  • Protein malnutrition
  • Aluminum toxicity
  • Copper deficiency
• Normal reticulocyte count

  • Thalassemia trait
  • Sideroblastic anemia
• High reticulocyte count

  • Thalassemia syndromes
  • Hemoglobin C disorders

Normocytic anemia

• Low reticulocyte count

  • Chronic disease
  • Red blood cell aplasia (transient erythroblastopenia of childhood, infection, drug induced)
  • Malignancy
  • Juvenile rheumatoid arthritis
  • Endocrinopathies
  • Renal failure
• Normal reticulocyte count

  • Acute bleeding
  • Hypersplenism
  • Dyserythropoietic anemia II
• High reticulocyte count

  • Antibody‐mediated hemolysis
  • Hemoglobinopathies (sickle cell disease)
  • Membranopathies (spherocytosis, elliptocytosis)
  • Enzyme disorders

    • Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency
    • Pyruvate kinase deficiency
  • Hypersplenism
  • Microangiopathic hemolytic anemias

    • Hemolytic uremic syndrome (HUS)
    • Thrombotic thrombocytopenic purpura (TTP)
    • Disseminated intravascular coagulation (DIC)
    • Kasabach‐Merritt syndrome

Macrocytic anemia

• Low reticulocyte count

  • Folate deficiency
  • Vitamin B₁₂ deficiency
  • Aplastic anemia
  • Congenital bone marrow dysfunction (Diamond‐Blackfan syndrome, Fanconi's syndrome)
  • Drug induced
  • Trisomy 21
  • Hypothyroidism
• High reticulocyte count

  • Dyserythropoietic anemia I, III
  • Active hemolysis

Arthritis

Arthritis is defined as swelling of a joint that is accompanied by limitation of motion, heat, pain, or tenderness. Arthralgia refers to pain or tenderness of a joint alone.

Trauma or mechanical causes

• Hematoma or contusion

• Fracture

  • Stress fracture
  • Osteochondritis dissecans

• Dislocation

• Ligament injuries (sprains)

• Cartilage injuries

• Chondromalacia patella

• Muscle injuries (strains)

• Tendon injuries

• Hemarthrosis

• Bursitis

• Foreign body

• Overuse syndromes

  • Osgood‐Schlatter disease
  • Little league elbow

Infectious or postinfectious causes

• Septic arthritis (bacterial)

  • Staphylococcus aureus
  • Group A streptococcus
  • Streptococcus pneumoniae
  • Group B streptococcus
  • Haemophilus influenzae type B
  • Neisseria gonorrhoeae
  • Neisseria meningitidis
  • Pseudomonas aeruginosa (puncture wounds)
  • Salmonella species (sickle cell disease)
  • Mycobacterium tuberculosis
• Postinfectious bacterial causes

  • Group A streptococci (acute rheumatic fever)
  • Neisseria gonorrhoeae
  • Neisseria meningitidis
  • Chlamydia
  • Shigella
  • Salmonella
  • Yersinia
  • Campylobacter

• Lyme disease

• Rat bite fever

• Mycoplasma

• Viral or postviral causes

  • Rubella
  • Hepatitis B
  • Epstein‐Barr virus
  • Cytomegalovirus
  • Parvovirus
  • Herpesvirus‐6
  • Mumps
  • Enteroviruses
  • Adenovirus
  • Varicella zoster virus
  • Influenza viruses

• Fungal causes

• Bacterial endocarditis

• Hemarthrosis or hematoma with infection

Rheumatic or collagen vascular disease

• Juvenile rheumatoid arthritis

• Systemic lupus erythematosus

• Inflammatory bowel disease‐associated arthritis

• Behçet's syndrome

• Henoch‐Schönlein purpura

• Kawasaki syndrome

• Erythema nodosum‐associated arthritis

• Erythema multiforme (Stevens‐Johnson syndrome)

• Reiter's syndrome

• Scleroderma

• Dermatomyositis

• Mixed connective tissue disorder

• Ankylosing spondylitis

• Polyarteritis nodosa

• Sjögren's syndrome

• Psoriatic arthritis

• Pigmented villonodular synovitis

• Hypermobility syndrome

Drugs

• Serum sickness

Neoplasms

• Leukemia

• Neuroblastoma

• Ewing's sarcoma

• Osteogenic sarcoma

Other causes

• Hemophilia (hemarthrosis)

• Sickle cell disease

• Ehlers‐Danlos syndrome (dislocations)

• Sarcoidosis

• Familial Mediterranean fever

Ataxia

Ataxia refers to impairment in coordination of movement without loss of muscle strength.

Drugs or toxins

• Anticonvulsants

  • Barbiturates
  • Phenytoin
  • Carbamazepine
  • Valproate
  • Benzodiazepines
• Heavy metal poisoning

  • Lead
  • Mercury
  • Arsenic
• Substance abuse

  • Alcohol
  • Glue sniffing
  • Gasoline sniffing
  • Sedatives
  • Hypnotics
  • Drug withdrawal
  • Other agents

Infectious causes

• Meningitis

• Encephalitis

  • Herpesviruses
  • Enteroviruses
  • Arboviruses

• Postinfectious encephalomyelitis

• Labyrinthitis

• Cerebellar abscess

Acute cerebellar ataxia

Central nervous system

• Head trauma

  • Cerebellar hemorrhage
  • Posterior fossa subdural hematoma
  • Concussion
• Tumor

  • Posterior fossa
  • Von Hippel‐Lindau syndrome (cerebellar hemangioblastoma)

• Hydrocephalus

• Congenital anomalies of the cerebellum

  • Cerebellar dysgenesis
  • Dandy‐Walker malformation
  • Chiari's malformation
  • Vascular malformation of cerebellum or cerebellar hemorrhage

• Basilar artery migraine

• Cerebral palsy

Metabolic disorders

• Hypoglycemia

• Vitamin B₁₂ deficiency

• Vitamin D deficiency

• Amino acid disorders

  • Urea cycle defects
  • Hartnup disease
• Organic acid disorders

  • Maple syrup urine disease
  • Isovaleric acidemia
  • Multiple carboxylase deficiency
• Pyruvate metabolism disorders

  • Leigh disease (subacute necrotizing encephalomyelopathy)
  • Pyruvate dehydrogenase complex deficiency
  • Pyruvate decarboxylase deficiency

Systemic disorders

• Friedreich's ataxia

• Ataxia telangiectasia

• Refsum's disease

• Multiple sclerosis

• Cockayne's syndrome

• Angelman's syndrome

• Abetalipoproteinemia

• Lipidoses (Tay‐Sachs disease)

• Leukodystrophies

Conversion disorder or psychogenic causes

Back Pain

Back pain is less common in children than in adults. In general, the younger the child, the more likely back pain signifies serious pathology.

Traumatic, posttraumatic, and recurrent stress

• Musculoskeletal strain

• Contusion

• Compression fracture

• Spondylolysis

• Spondylolisthesis

• Herniated disk

• Spinal epidural hematoma

Infectious causes

• Spinal

  • Diskitis
  • Vertebral osteomyelitis
  • Epidural abscess
  • Tuberculosis
• Extraspinal

  • Pyelonephritis
  • Pneumonia
  • Meningitis
  • Iliac osteomyelitis
  • Sacroiliac pyoarthrosis
  • Paraspinal abscess

• Postinfectious (transverse myelitis)

Collagen vascular disease

• Juvenile rheumatoid arthritis

• Ankylosing spondylitis

• Other spondylitis (inflammatory bowel disease, Reiter's syndrome, psoriasis)

Neoplasms

• Vertebral tumors

  • Ewing's sarcoma
  • Osteogenic sarcoma
  • Eosinophilic granuloma
  • Osteoid osteoma
  • Osteoblastoma
  • Bone cysts
• Spinal cord tumors

  • Neurofibromas
  • Gliomas
  • Lipomas
  • Teratomas
• Extraspinal tumors

  • Neuroblastoma
  • Wilms' tumor
  • Leukemia
  • Lymphoma

Congenital and developmental spine disorders

• Congenital anomalies of the spine

• Scheuermann's disease (juvenile kyphosis)

• Disk space calcification

• Arteriovenous malformations

Systemic disorders

• Sickle cell disease

• Muscular dystrophies

• Aortic aneurysm or dissection (hypertension, Marfan syndrome)

Referred pain

• Gallbladder disease

• Pancreatitis

• Appendicitis

• Renal colic

• Gastrointestinal cramping

Psychogenic causes

Breast Mass or Enlargement

The differential diagnosis of a breast mass or enlargement is based on the age and sex of the child. Most breast masses in children and adolescents are benign. Obese children may sometimes appear to have breast enlargement without any breast tissue being present.

Any Age

• Infection

  • Cellulitis
  • Abscess
• Drugs

  • Estrogen‐containing medicines
  • Spironolactone
  • Cimetidine
  • Imipramine
  • Phenothiazines
  • Isoniazid
• Trauma

  • Hematoma
  • Fat necrosis
  • Contusion

• Chronic liver disease

Tumors (rare)

Infant

• Physiologic hypertrophy

• Primary tumor

  • Hemangioma

Prepuberty: Male

• Precocious puberty or prepubertal gynecomastia

• Primary tumor

  • Lipoma
  • Neurofibroma

Prepuberty: Female

• Premature thelarche

• Precocious puberty

• Primary tumor

  • Lipoma
  • Neurofibroma

Puberty: Male

• Physiologic gynecomastia (can be asymmetric)

• Klinefelter syndrome (47, XXY karyotype)

• Tumor

  • Primary

    • Lipoma
    • Neurofibroma
  • Secondary (hormone‐producing)

    • Adrenal
    • Testicular

Puberty: Female

• Physiologic (can be asymmetric)

• Pregnancy

• Lactational changes

• Fibrocystic changes

• Tumor

  • Fibroadenoma
  • Giant fibroadenoma
  • Cystosarcoma phyllodes
  • Intraductal papilloma
  • Lipoma
  • Breast carcinoma (rare)
  • Breast sarcoma (rare)

• Intramammary lymph node

Chest Pain

Chest pain originates from inside or outside the chest. It may be referred from the abdomen.

Most common causes

• Musculoskeletal (trauma, strain)

• Psychogenic

• Costochondritis

• Esophagitis

• Asthma

• Cough

• Pneumonia

• Sickle cell disease

Trauma or mechanical causes

• Chest wall strain

• Costochondritis (Tietze's syndrome)

• Direct trauma or muscle strain

• Slipping rib syndrome

• Precordial catch (Texidor's Twinge, benign pleuralgia)

Infectious causes

• Devil's grip (epidemic pleurodynia, Bornholm disease)

• Varicella zoster virus

• Pleural effusion

• Pneumonia

• Pericarditis, myocarditis

Cardiac disease

• Dysrhythmias (supraventricular tachycardia, premature ventricular contractions)

• Structural abnormalities (hypertrophic congestive cardiomyopathy, aortic stenosis, pulmonary stenosis, mitral valve prolapse)

• Coronary artery abnormalities

• Coronary arteritis (Kawasaki disease)

• Myocardial infarction, ischemia

• Empyema, abscess

• Myocarditis or pericarditis

• Pneumopericardium

• Rheumatic fever

• Pulmonary hypertension

• Dissecting aortic aneurysm

• Marfan's syndrome

• Ehlers‐Danlos syndrome

• Takayasu arteritis

• Pheochromocytoma

Respiratory problems

• Cough

• Pneumonia

• Asthma

• Pleural effusion

• Pneumothorax

• Pneumomediastinum

• Cystic fibrosis

• Pulmonary embolism

• Familial Mediterranean fever

• Familial angioneurotic edema

• Systemic lupus erythematosus

Gastrointestinal disorders

• Esophagitis

• Esophageal foreign bodies

• Caustic ingestion

• Esophageal ulceration, stricture

• Achalasia

• Peptic ulcer disease

• Pancreatitis, pancreatic pseudocyst

• Hiatal hernia

• Pylorospasm

Idiopathic causes

Miscellaneous disorders

• Thoracic tumor

• Breast mass

• Sickle cell crisis

• Cigarette smoking

• Anxiety, psychogenic causes (hyperventilation, depression, conversion reaction)

Common Skin Lesions

Skin Lesions Associated with Vesicles and Bullae

A vesicle is a raised skin or mucous membrane lesion filled with clear fluid; a bulla is a lesion larger than 1 cm filled with clear fluid. Some may also involve pustules.

• Bullous impetigo

• Bullous pemphigoid

• Burns

• Carpet beetle bites (flaccid bullae)

• Chronic bullous dermatosis of childhood

• Coxsackievirus (hand‐foot‐mouth disease, many other coxsackievirus infections)

• Dermatitis herpetiformis

• Epidermolysis bullosa

  • Dystrophic
  • Generalized
  • Localized
  • Simplex

• Friction blisters

• Herpes gestationalis

• Herpes simplex

• IgA dermatosis

• Incontinentia pigmenti (linear rows of blisters on extremities in first few months of life)

• Miliaria crystallina

• Papular urticaria (may look vesicular)

• Pemphigus

  • Benign familial
  • Foliaceus
  • Vulgaris

• Polymorphous light eruption

• Recurrent bullous eruption (Weber‐Cockayne disease)

• Staphylococcal scalded skin syndrome

• Stevens‐Johnson syndrome

• Sucking blisters

• Tinea pedis (occasionally manifests with pustules or vesicles on dorsum, not interdigital)

• Toxic epidermal necrolysis

• Varicella zoster virus (herpesvirus)

  • Chickenpox
  • Shingles

Skin Conditions Associated with Pustules

A pustule is a raised lesion filled with white or yellow exudate. Many vesicular lesions may also involve pustules.

• Abscess

• Acne

• Acropustulosis of infancy

• Congenital candidiasis

• Dyshidrotic eczema (pompholyx)

• Erythema toxicum (newborn only)

• Folliculitis

• Hand‐foot‐mouth disease

• Herpes simplex (HSVI and HSVII) virus infections

• Kerion (often has pustules within boggy, red nodules)

• Miliaria pustulosis

• Palmoplantar pustulosis

• Pustular melanosis (neonatal pustular melanosis)

• Pustular psoriasis

• Subcorneal pustulosis (Sneddon‐Wilkinson disease)

• Varicella Zoster

Papulosquamous Skin Lesions

A papular lesion is a solid, raised area, usually less than 1 cm in diameter, with distinct borders. The papule may be pink, red, violaceous, flesh colored, and hyperpigmented or hypopigmented. Papulosquamous disorders describe skin lesions with papules that have an accompanying scale.

• Candida dermatitis (can manifest with collarette of scale on pink macule or papule)

• Contact dermatitis

• Dermatomyositis

• Eczema or nummular eczema

• Histiocytosis syndromes

• Ichthyosis

• Keratosis pilaris

• Lichen planus

• Lupus

• Parapsoriasis

• Pityriasis alba

• Pityriasis rosea

• Pityriasis rubra pilaris

• PLEVA (pityriasis lichenoides et varioliformis acuta, Mucha‐Haberman disease)

• Psoriasis

• Scabies

• Seborrheic dermatitis

• Secondary syphilis

• Tinea corporis

• Tinea versicolor

Red, Raised Lesions

Not including lesions listed previously, these papulosquamous lesions include erythema with and without scale.

• Abscess

• Acne

• Angioedema

• Angiofibroma

• Atopic dermatitis (usually with scale)

• Cellulitis and erysipelas

• Diaper dermatitides (Candida, contact, psoriatic, seborrheic)

• Erythema chronicum migrans (early rash of Lyme disease)

• Erythema annulare

• Erythema marginatum (rash associated with rheumatic fever)

• Erythema multiforme

• Erythema toxicum (neonatal)

• Hemangioma (strawberry hemangioma)

• Insect bites

• Juvenile arthritis

• Kawasaki disease

• Lupus panniculitis

• Miliaria rubra

• Papular urticaria

• Pyogenic granuloma

• Rickettsial illnesses

  • Rocky Mountain spotted fever
  • Q fever
  • Typhus
  • Rickettsialpox

• Scarlet fever and scarlatiniform exanthems (look like scarlet fever, but the cause is viral, often adenovirus or enteroviruses, especially coxsackievirus)

• Secondary syphilis

• Sunburn

• Trauma

• Urticaria

• Viral exanthems

  • They may be red or pink and can include any variety of macular (not raised, by definition), petechial (not raised, nonblanching), urticarial, morbilliform (measles‐like), pustular, papular, ulcerative, and vesicular lesions.
  • Viruses include adenoviruses, cytomegalovirus, Ebstein‐Barr virus, enterovirus (especially coxsackievirus), echoviruses, human herpesvirus‐6 (HHV‐6), HHV‐7, herpes simplex virus, rubeola, roseola (exanthem subitum), parvovirus B19 (fifth disease, erythema infectiosum), reoviruses, and varicella‐zoster.

Macular Lesions

Macular lesions are flat. They can be hyperpigmented or hypopigmented, and they may be red or pink.

• Café au lait spots

• Capillary hemangioma

• Nevus flammeus (salmon patch)

• Drug reaction or drug rash

• Freckles

• Nevi

• Pityriasis alba (macule usually with slight scale)

• Port wine stain

• Postinflammatory hypopigmentation or hyperpigmentation

• Tinea versicolor

• Tuberous sclerosis (may have fine scale) and neurofibromatosis lesions

• Viral exanthems

• Vitiligo

Cough

A reflexive action of deep inspiration followed by forced, rapid expiration, usually to protect and clear the airway of secretions, foreign material, or irritants.

Congenial anomalies: compression or abnormality of airway

• Connection of airway to esophagus (tracheoesophageal fistula [TEF])

• Tracheobronchomalacia

• Interstitial lung disease

• Aberrant mediastinal vessels

• Pulmonary sequestration

• Bronchopulmonary‐foregut malformations

• Bronchogenic cysts

• Adductor vocal cord paralysis

• Congenital mediastinal tumors

Other congenital sources

• Cardiac malformations that lead to congestive heart failure

• Aspiration because of neurogenic abnormality

Allergies

• Rhinitis (allergic or vasomotor with postnasal drip)

• Asthma or reactive airway (may begin with infectious upper airway disease)

• Cough variant asthma (up to 40% of cases of chronic cough)

• Allergic sinusitis

Infectious causes

• Viral upper airway illnesses (upper respiratory infection)

  • Respiratory syncytial virus (RSV)
  • Human metapneumovirus (HMPV)
  • Adenovirus
  • Parainfluenza virus
  • Influenza virus
  • Rhinovirus
  • Coronavirus
• Sinusitis

  • Streptococci
  • Moraxella
  • Nontypeable Haemophilus influenzae
• Pneumonia and lower respiratory tract infections

  • Chlamydia in young infant
  • Mycoplasma pneumoniae
  • M. trachomatis (infant)
  • Viral pneumonia, bronchiolitis
  • Bacterial pneumonias

    • Streptococcus pneumoniae
    • Staphylococcus aureus
    • Haemophilus influenzae
    • Gram‐negative bacteria
    • Anaerobes
  • Fungal infections
• Whooping cough syndrome

  • Pertussis
  • Parapertussis
  • RSV
  • Adenovirus
  • Influenza
  • Chlamydia
  • Mycoplasma
  • Cystic fibrosis
• Suppurative lung disease with bronchiectasis or abscess secondary to:

  • Cystic fibrosis (CF)
  • Dyskinetic cilia (immobile cilia, Kartagener syndrome)
  • Foreign body
• Granulomatous lung disease

  • Tuberculosis
  • Fungi (histoplasmosis, coccidiomycosis)

• Paranasal sinus infection

Other causes usually associated with infections

• Immunodeficiency syndromes

  • Acquired immunodeficiency syndrome (AIDS)
  • Immunoglobulin deficiencies
  • T‐cell abnormalities
  • Combined B‐ and T‐cell abnormalities
  • Phagocyte defects
• Abnormal mechanical clearance

  • CF
  • Immotile cilia
  • Bronchiectasis

Foreign body aspiration or ingestion

• Esophagus or tracheobronchial tree (most common in toddlers)

• Tracheoesophageal (H‐type) fistula

Tumors

Irritants

• Chemical or physical

  • Tobacco
  • Firewood
  • Dry or dusty air
  • Volatile chemicals

• Aspiration associated with gastroesophageal reflux disease (GERD)

• Aspiration from swallowing abnormality or TEF

Psychogenic or habitual sources

• Usually disappears during sleep

• Brassy tone remarkable

Diarrhea

Diarrhea is an abnormally high stool volume and water content, usually associated with increased frequency of stool, although normal amounts vary dramatically among children. Typical stool volumes for infants are 5 to 10 g/kg body weight per 24 hours and 100 to 200 g per day for adults. An amount that is greater than 10 g/kg/day for an infant or greater than 200 g/day for an older child usually means diarrhea. The most common causes of altered motility and absorption are colonization or invasion by bacteria, parasites, or viruses; inflammatory processes; or drugs.

History

• Specific causes may be more likely with specific history.

• Fever, crampy pain, tenesmus

  • Inflammatory bowel diseases (Crohn's disease, ulcerative colitis)
• Bloody stool

  • Shigella
  • Escherichia coli
  • Amebiasis
  • Salmonella
  • Yersinia
  • Campylobacter
• Pain and fever (appendicitis‐like)

  • Yersinia
• Multiple cases or outbreak

  • In less than 6 hours: Staphylococcus, Bacillus
  • In more than 6 hours: Clostridium perfringens
• Seafood

  • Vibrio cholera (or similar)
• Immunosuppression (malnutrition, acquired immunodeficiency syndrome [AIDS])

  • Salmonella
  • Rotavirus
  • Isoporosis
  • Cryptosporidium
• Persistent diarrhea

  • Malnutrition
  • Diet changes
  • Milk ingestion
  • Antibiotic treatment
  • Poor appetite
  • Poor diet management

Acute Diarrhea

• Viral (acute gastroenteritis)

  • Rotavirus
  • Norwalk‐like virus
  • Other viral causes
• Bacterial

  • Salmonella spp. (antibiotics prolong carrier state; treat if dysentery, age < 6 months, immunosuppressed)
  • Shigella spp (trimethoprim‐sulfamethoxazole [TMP‐SMX], cephalosporin, amoxicillin or fluoroquinolone for severe disease or to prevent spread)
  • Yersinia (consider TMP‐SMX, intravenous gentamicin, chloramphenicol)
  • Campylobacter (consider erythromycin ethylsuccinate, chloramphenicol, intravenous gentamicin)
  • C. difficile (50% newborns colonized, may be incidental; major treatment if infant discontinue antibiotic; may consider vancomycin or metronidazole)
  • E. coli 0157:H70 (antibiotics may increase risk of hemolytic uremic syndrome; treat only if toxic or septic or neonate with intravenous gentamicin or TMP‐SMX)
  • Aeromonas (consider TMP‐SMX)
• Food poisoning, toxin mediated

  • Staphylococcus aureus
  • Bacillus cereus
  • C. perfringens
• Other causes of acute diarrhea

  • Vibrio cholera
  • Giardia lamblia (furazolidone or metronidazole or use quinacrine)
  • Cryptosporidium
  • Entamoeba histolytica (metronidazole)
• Inflammatory bowel disease

  • Consider if white blood cells or blood in stool but cultures are negative

• Drug induced

Chronic Diarrhea

• Assess growth and development.

• Onset in infancy, after infancy, school‐age child or adolescent

Infancy

• Congenital monosaccharidase or disaccharidase deficiencies

• Pancreatic insufficiency (cystic fibrosis)

• Na/H transport deficiencies

• Chloride deficiency

• Short gut

• Microvillus abnormality

• Chronic intractable diarrhea of the newborn (CIDN)

• Malrotation or intermittent volvulus

After infancy

• Overfeeding

• Excessive juice intake

• Specific food intolerance

• Laxative abuse, Munchausen by proxy

• Starvation stool, postinfectious enteropathy

• Constipation with overflow encopresis

• Irritable bowel syndrome

• With growth insufficiency, workup may include the following:

  • Laboratory tests

    • Urinalysis, urine culture, blood urea nitrogen, creatinine (chronic renal insufficiency)
    • Calcium, phosphorus, alkaline phosphatase (rickets)
    • Electrolytes (acidosis, electrolyte abnormality)
    • Magnesium, zinc (fat malabsorption)
    • Carotene, cholesterol, human immunodeficiency virus (HIV), immunoglobulins, trypsinogen, sweat chloride, C. difficile toxin, small bowel aspirate and culture, IgA and transglutaminase (TTG) antibody, urine catecholamines, d‐xylose
    • Stool ova and parasites
    • May also consider endoscopy or radiographic testing
• Differential options include the following:

  • Cystic fibrosis
  • Immunodeficiency
  • AIDS/HIV
  • Celiac disease
  • Starvation stool
  • Giardia
• Fat malabsorption

  • Celiac disease
  • Cystic fibrosis
  • Shwachman syndrome
  • Intestinal lymphangiectasia
  • Abetalipoproteinemia
  • Trypsinogen deficiency
  • Enterokinase deficiency
  • Acrodermatitis enteropathica (zinc deficiency)

• Colitis or obstruction

• Hirschsprung's disease

• Inflammatory bowel disease

• Milk protein allergy

• Pseudo‐obstruction

• Secretory disorders (assess vasoactive polypeptide, prostaglandin, thyroid function testing, computed tomography of the abdomen)

  • Adrenal insufficiency
  • Thyroid disease
  • Tumor

    • Ganglioneuroma
    • Neuroblastoma
    • Carcinoid

Later childhood and adolescence

• Laxative abuse (anorexia nervosa)

• Irritable bowel (colon) syndrome

• Inflammatory bowel disease

• Other systemic disease

• Giardia

• Carbohydrate intolerance

• Celiac disease

• Eosinophilic gastroenteritis

• Bacterial overgrowth

• Food allergy

Dysuria

Dysuria is pain with urination.

Infection

• Urinary tract infection or cystitis

  • Viral
  • Bacterial

    • Enterobacteriaceae
    • Gram‐positive organisms
• Urethritis or vaginitis

  • Fungi (Candida albicans)
  • Bacterial

    • Gardnerella vaginalis
    • Neisseria gonorrhoeae
    • Chlamydia trachomatis
    • Syphilis (endourethral chancre)
  • Protozoa

    • Trichomonas vaginalis
• Genital infection

  • Herpes simplex virus
  • Condyloma acuminata (genital warts)
  • Infection of paraurethral glands

Chemical irritation

• Detergent

• Fabric softener

• Perfumed soaps

• Bubble bath

• Douches

• Contraceptive jellies

• Certain foods

Trauma or physical injury

• Local injury

• Masturbation

• Meatal stenosis

• Labial adhesion

• Foreign body

Systemic disease

• Reiter's syndrome

• Crohn's disease

Hypercalciuria

Urinary stones

Ear Pain

Ear pain, or otalgia, is common in children. Treatment of ear pain depends on the cause, which may be direct or indirect.

Direct causes

• Acute otitis media

• Serous otitis media

• Otitis externa

• Cellulitis of the ear

• Mastoiditis

• Herpes zoster infection of the ear or facial nerve

• Barotrauma

  • Upper respiratory infection or nasal stuffiness
  • Airplane travel
  • Scuba diving
• Foreign body

  • Object lodged in the ear canal
  • Cockroach or other insect

• Impacted cerumen

• Infected cyst

• Neoplasms

• Trauma

Indirect causes

• Referred pain

  • Sore throat
  • Tooth pain
  • Temporomandibular joint dysfunction
  • Sinusitis
  • Parotitis
  • Lymphadenitis

• Psychogenic causes

Edema, Generalized

Edema is abnormal swelling from excessive accumulation of fluid in the interstitial space. Fluid usually appears in the dependent portions of extremities, especially the ankles or lower legs, or in distensible tissues, such as the eyelids, scrotum, labia, and abdomen.

Cardiac disease

• Congestive heart failure

• Pericardial effusion

• Myocarditis

Renal disease

• Nephrotic syndrome

• Glomerulonephritis

• Henoch‐Schönlein purpura

• End‐stage renal failure

• Renal vein thrombosis

• Obstructive uropathy

Hepatic disease

• Liver failure

• Hepatitis

• Biliary atresia

Gastrointestinal disease

• Protein‐losing enteropathy

• Chronic protein malnutrition

• Cystic fibrosis

• Celiac disease

• Enteritis of numerous types

Vascular disease

• Vasculitis

• Thrombosis

Lymphatic abnormalities

• Turner syndrome

• Noonan syndrome

• Lymphedema

  • Primary or inherited form
  • Secondary forms caused by injury (infection, fibrosis, surgery, irradiation)

Allergic reaction

Hematologic disease

• Hemolytic disease of the newborn

Pregnancy related

• Normal pregnancy

• Toxemia of pregnancy

Hereditary angioedema

Endocrine disease

• Syndrome of inappropriate antidiuretic hormone (SIADH)

• Hypothyroidism

Iatrogenic sources

• Excess salt and water intake

• Drugs

  • Steroids
  • Lithium
  • Contraceptives

Other causes

• Vitamin E deficiency

• Congenital albumin deficiency

Gastrointestinal Bleeding

Many food substances, such as red dyes, fruit juices, and beets, may mimic blood and confirmation of the presence of blood by Gastroccult (vomit) or guaiac (stool) tests is essential. Upper gastrointestinal tract bleeding occurs proximal to the ligament of Treitz (between the third and fourth segments of the duodenum); lower gastrointestinal bleeding occurs distal to this ligament. Hematemesis refers to bright red or brown blood in the vomit; it is usually seen with upper gastrointestinal tract bleeding. Hematochezia is bright red, brown, or dark red blood from the rectum; it is usually caused by bleeding in the lower gastrointestinal tract, but it can be seen with brisk upper gastrointestinal bleeding. Melena is the passage of black tarry material (product of degradation of blood in the small intestine) from the rectum; it is seen in cases of upper gastrointestinal tract bleeding.

Bleeding from the Upper Gastrointestinal Tract

• Oral or pharyngeal sources

  • Swallowed blood from the nose or oropharynx
• Esophagus

  • Esophagitis
  • Esophageal varices
• Stomach and duodenum

  • Gastritis
  • Ulcer

• Mallory‐Weiss tears (junction of esophagus and stomach)

• Hemobilia (bleeding into the biliary tract)

Bleeding from the Lower Gastrointestinal Tract

• Small intestine

  • Cow's milk protein allergy
  • Necrotizing enterocolitis
  • Volvulus with malrotation
  • Meckel's diverticulum
  • Intussusception
  • Crohn's disease
  • Henoch‐Schönlein purpura
  • Mesenteric thrombosis or embolism
• Large intestine and rectum

  • Infectious colitis

    • Escherichia coli types
    • Salmonella species
    • Shigella species
    • Campylobacter jejuni
    • Clostridium difficile
    • Entamoeba
    • Parasites
  • Intussusception
  • Inflammatory bowel disease
  • Intestinal polyps

    • Juvenile polyps
    • Familial multiple adenomatous polyposis
    • Gardner's syndrome
    • Peutz‐Jeghers syndrome
    • Benign lymphoid polyposis
  • Henoch‐Schönlein purpura
  • Diverticulosis
  • Hemolytic uremic syndrome
• Anus

  • Hemorrhoids
  • Fissure
  • Trauma or abuse

Bleeding from the Upper or Lower Gastrointestinal Tract

• Swallowed maternal blood

• Vascular malformation

  • Arteriovenous malformations
  • Hemangiomas
  • Angiodysplasia
  • Rendu‐Osler‐Weber syndrome (hereditary hemorrhagic telangiectasia)

• Duplication

• Toxic ingestion or drugs

  • Aspirin or salicylates
  • Anticoagulants
  • Rat poison (superwarfarins)

• Foreign body

• Bleeding disorders

  • Hemorrhagic disease of the newborn
  • Disseminated intravascular coagulation
  • Hemophilia

• Neoplasms

Genital Sores

Genital sores refers to lesions on female or male genitalia caused by infectious agents.

• Herpes genitalis

  • Primary
  • Recurrent

• Syphilis

• Chancroid

  • Caused by Haemophilus ducreyi
• Granuloma inguinale

  • Caused by Calymmatobacterium granulomatis
• Genital warts or condyloma acuminatum

  • Frequently caused by human papillomavirus (HPV)
• Lymphogranuloma venereum

  • Caused by Chlamydia trachomatis

Headache

Most headaches in children do not indicate serious pathology. The differential diagnosis should initially focus on distinguishing serious causes from the more common causes. Table 2‐1 reviews some characteristics that may be helpful in differentiating the common causes of headache.

Table 2‐1.

Causes of Headache

	Type of Headache
Characteristic	Migraine	Tension	Psychogenic
Location	Typically unilateral	Bilateral, often occipital	Bilateral, anywhere
Character	Throbbing	Pressure	Pressure or no particular
Severity	Moderate to severe	Mild to moderate	Usually mild
Aura	Sometimes	No	No
Associated symptoms	Vomiting, photophobia	Stress, muscle strain	Other somatic complaints, depression, anxiety

Vascular headache

• Migraine

  • Common
  • Classic
  • Complicated

• Hypertension

• Vasculitis

• Cerebral aneurysm

• Embolus or infarction

• Cluster headache

Intracranial infections

• Meningitis

• Encephalitis

• Intracranial abscess

Altered intracranial pressure

• Increased pressure

  • Tumor
  • Intracranial hemorrhage or hematoma
  • Intracranial abscess
  • Cerebral edema
  • Hydrocephalus
  • Pseudotumor cerebri
  • Venous sinus thrombosis
• Decreased pressure

  • After lumbar puncture

Disorders of the head and neck

• Eyestrain (rare)

• Glaucoma

• Sinus infections

• Streptococcal pharyngitis

• Dental caries

• Malocclusion

• Temporomandibular joint dysfunction

• Cranial neuralgias (rare in pediatrics)

Muscular headache

• Tension

• Muscle strain

  • Activity
  • Posture
  • Prolonged position

Trauma

• Intracranial hemorrhage or hematoma

• Posttraumatic, concussion

• Muscle strain (whiplash)

Psychogenic causes

• Anxiety

• Depression

Other causes

• Systemic illness

• Drugs

• Poisoning

• Hyperventilation

• Hypoxia

• Seizure, after seizure

• Medical procedures (spinal tap)

Hematuria

Hematuria is the presence of red blood cells in the urine. Urine dipstick detects red blood cells, hemoglobin, and myoglobin; microscopy can reveal only red blood cells. Persistent hematuria, which is the presence of more than 2 to 5 red blood cells per high‐power field on at least two of three consecutive spun urine specimens obtained over a 2‐month period.

Diagnostic Considerations

• Bleeding from glomeruli

  • Smoky (tea‐ or cola‐colored), reddish brown urine
  • Red blood cell casts in urine
• Proteinuria

  • Originates from red blood cells
  • May or may not coexist with hematuria
  • Combined with microscopic hematuria

    • Glomerulonephritis (most likely)
    • Acute tubular necrosis
    • Systemic diseases
• Hemoglobinuria

  • Results from disorders causing hemolysis

    • Red cell membrane defects
    • Hemoglobinopathies
    • Immune hemolytic disorders
    • Mismatched blood transfusions
    • Disseminated intravascular coagulation
    • Sepsis
    • Malaria
    • Mechanical erythrocyte damage
  • Indicated by pink color of serum
• Myoglobinuria

  • Caused by damage to muscles

    • Crush injury
    • Electrical burns
    • Prolonged seizures
    • Malignant hyperthermia
    • Myositis
    • Rhabdomyolysis
    • Extreme exercise
  • Presence determined by urine tests, normal‐colored serum
  • Laboratory data to identify the source of urinary pigment indirectly

    • Low ratio of blood urea nitrogen to creatinine
    • High creatine phosphokinase level (damaged muscles release creatinine)

Causes of Hematuria

• Infection

  • Cystitis
  • Pyelonephritis
  • Urethritis
  • Balanitis
  • Tuberculosis
• Trauma

  • Kidney
  • Bladder
  • Urethra
• Drugs or toxins

  • Nonsteroidal anti‐inflammatory agents
  • Cyclophosphamide
  • Penicillins
  • Cephalosporins
  • Sulfa drugs
  • Furosemide
  • Aminoglycosides
  • Cyclosporin
  • Heavy metals

• Vigorous exercise

• Hypercalciuria

• Calculi

  • Congenital
  • Infectious
  • Metabolic disorders

    • Hypercalciuria
    • Hyperuricosuria
    • Cystinuria
    • Hyperoxaluria
  • Idiopathic causes
• Foreign body or instrumentation in the urethra or bladder

  • Urinary catheterization
  • Suprapubic aspiration
• Tumor

  • Wilms' tumor
  • Leukemia
  • Hemangioma
  • Bladder cancer
• Structural abnormality

  • Polycystic kidney disease
  • Cystic kidneys
  • Hydronephrosis
  • Ureteropelvic junction obstruction
  • Posterior urethral valves
• Hemoglobinopathies

  • Sickle cell hemoglobinopathies
  • Others
• Bleeding disorders

  • Hemophilias
  • Thrombocytopenias

• Renal vessel thrombosis or infarction

• Acute tubular necrosis

  • Drugs or toxins (see earlier)
  • Hypoxia
  • Hypoperfusion
• Glomerulonephritis

  • Acute post‐streptococcal inflammation
  • IgA nephropathy
  • Membranoproliferative disease
  • Henoch‐Schönlein purpura
  • Alport's hereditary nephritis
• Systemic diseases

  • Hemolytic uremic syndrome
  • Systemic lupus erythematosus
  • Polyarteritis nodosa
  • Wegener's granulomatosis
  • Goodpasture's syndrome

• Benign familial hematuria

• Benign nonfamilial hematuria

Hepatomegaly & Hepatosplenomegaly

Hepatomegaly is enlargement of the liver beyond its normal size. Hepatosplenomegaly is enlargement of the liver and the spleen. Causes of hepatomegaly without splenomegaly are indicated by (H). For splenomegaly without hepatomegaly, see Splenomegaly, Isolated in Section II.

Infectious causes

• Viral infections

  • Epstein‐Barr virus
  • Cytomegalovirus
  • Herpes simplex virus
  • Enterovirus
  • Varicella virus
  • Human immunodeficiency virus (HIV)
  • Congenital rubella
  • Hepatitis (H)
• Bacterial infections

  • Sepsis
  • Endocarditis
  • Tuberculosis
  • Brucellosis
  • Congenital syphilis
  • Leptospirosis
  • Liver abscess (H)
  • Fitz‐Hugh‐Curtis syndrome (perihepatitis associated with gonorrhea or chlamydial infection)
• Parasites

  • Toxoplasmosis
  • Visceral larva migrans
  • Chaga's disease
  • Amebiasis (H)
  • Malaria
  • Ascariasis (H)
  • Others
• Fungal infection

  • Histoplasmosis
• Rickettsial infection

  • Rocky Mountain spotted fever

Trauma or liver injury (H)

Hemolytic anemia

Neoplasms

• Leukemia

• Lymphoma

• Neuroblastoma

• Hemangioma (H)

• Hepatic tumor (H)

Collagen vascular disease

• Systemic lupus erythematosus

• Juvenile rheumatoid arthritis

Cardiac causes

• Congestive heart failure (H)

• Pericardial tamponade (H)

Idiopathic neonatal hepatitis (H)

Chronic hepatitis (H)

• Chronic active hepatitis

• Chronic persistent hepatitis

Cirrhosis

Congenital hepatic fibrosis (h)

Hepatic cysts (H)

Drugs or toxins (H)

• Acetaminophen

• Ethanol

• Carbon tetrachloride

• Phenytoin

• Valproate

• Tetracycline

• Isoniazid

• Androgenic steroids

• Antineoplastic or chemotherapeutic agents

• Mushroom poisoning

Biliary tract obstruction (H)

• Extrahepatic obstruction

  • Biliary atresia
  • Biliary hypoplasia
  • Gallstones
• Intrahepatic obstruction

  • Intrahepatic biliary atresia
  • Alagille's syndrome
  • Byler's syndrome

Metabolic disorders

• Amino acid disorders

  • Tyrosinemia
• Carbohydrate disorders

  • Galactosemia (H)
  • Hereditary fructose intolerance (H)
  • Fructose‐1,6‐diphosphatase deficiency (H)
  • Glycogen storage diseases (H)
  • Others
• Lipidoses

  • Niemann‐Pick disease
  • Gaucher's disease
  • Farber's disease

• Mucopolysaccharidoses

• Mucolipidoses

• Glycoproteinoses

  • Fucosidosis
  • Mannosidosis
  • Sialidosis
• Acid lipase deficiency

  • Wolman's disease
  • Cholesterol ester storage disease (H)
• Peroxisomal disorders

  • Zellweger syndrome (H)
• Lipoprotein disorders

  • Type I hyperlipoproteinemia

Other causes

• Peripheral hyperalimentation (H)

• Malnutrition (H)

• Cystic fibrosis (H)

• Histiocytosis

• Hemochromatosis (H)

• Wilson disease (H)

• α₁‐Antitrypsin deficiency (H)

• Reye's syndrome (H)

• Sarcoidosis (H)

Hoarseness

Hoarseness is a harsh‐sounding voice, often with a decreased volume or whisper.

Infections

• Laryngitis

• Croup (laryngotracheitis)

• Infectious mononucleosis

• Epiglottitis

• Bacterial tracheitis

• Diphtheria

Voice strain or overuse

Excessive crying

Allergic reaction

Trauma

• After intubation

• Nasogastric or orogastric tube

• Caustic substances or burns

• Vocal cord paralysis (postoperative trauma)

• Blunt neck trauma

Irritants

• Tobacco smoke

Foreign body

Tumors

• Benign

  • Laryngeal papilloma
  • Hemangioma
  • Vocal cord polyps
  • Others

• Malignant (rare)

Congenital abnormalities

• Laryngomalacia

• Laryngeal web

• Laryngeal cyst

• Laryngocele

• Laryngeal cleft

• Congenital vocal cord paralysis

Neurologic abnormalities

• Recurrent laryngeal nerve impingement

  • Aberrant great vessels
  • Cardiomegaly
  • Hemorrhage
  • Hilar adenopathy
  • Neoplasm
• Recurrent laryngeal nerve dysfunction

  • Central nervous system disease

    • Arnold‐Chiari malformation
    • Multiple sclerosis
    • Stroke
    • Tumor
    • Others
• Motor nerve dysfunction

  • Botulism
  • Myasthenia gravis
  • Werdnig‐Hoffmann disease
  • Muscular dystrophy
  • Toxins

Hypocalcemia

Angioneurotic edema

Genetic syndromes

• Achondroplasia

• Cri du chat syndrome

• Others

Storage diseases

• Lysosomal disorders

Sarcoidosis

Amyloidosis

Hypoglycemia

Hypoglycemia is defined as a serum or plasma glucose level less than 40 mg/dL or a whole blood glucose level below 35 mg/dL.

Hyperinsulinemia

• Infant of a diabetic mother

• Pancreatic or islet cell dysphasia or hyperplasia (formerly called nesidioblastosis)

• Islet cell adenoma or adenomatosis

• Beckwith‐Weidemann syndrome

• Exogenous administration of insulin

  • Unintentional overdose
  • Suicide attempt
  • Munchausen syndrome by proxy

Poor intake or diminished glycogen stores

• Low birth weight or small for gestational age

• Hepatitis

• Hepatic failure

  • Congenital, infectious, or inborn error of metabolism (IEM)
  • Cirrhosis
  • Reye's syndrome
  • α₁‐Antitrypsin deficiency

• Malnutrition

• Malabsorption, chronic diarrhea

• Insufficient glucose administration postoperatively

Ketotic hypoglycemia

Counter‐regulatory hormone abnormalities

• Hypothalamic defect or hypopituitarism

• Growth hormone deficiency

• Growth hormone receptor unresponsiveness (Laron dwarfism)

• Cortisol deficiency

  • Addison disease
  • Adrenal failure
  • Congenital adrenal insufficiency

• Adrenocorticotropic hormone (corticotropin) deficiency or unresponsiveness

• Thyroid hormone deficiency

• Glucagon or catecholamine deficiency (both rare)

Inborn errors of metabolism

• Glycogen storage diseases (GSD)

  • GSD 6ype Ia, Ib (glucose‐6‐phosphatase deficiency)
  • GSD type 0 (glycogen synthetase deficiency)
  • Liver phosphorylase enzyme defects
• Gluconeogenesis enzyme abnormalities

  • Fructose‐1,6‐diphosphatase
  • Phosphoenolpyruvate carboxykinase
  • Pyruvate carboxylase

• Galactosemia (galactose‐1‐phosphate uridyltransferase defect)

• Hereditary fructose intolerance (fructose‐1‐phospate aldolase defect)

• Amino acid and organic acid abnormalities

  • Maple syrup urine disease (MSUD)
  • Propionic acidemia
  • Methylmalonic aciduria
  • Tyrosinosis
  • 3‐Hydroxy‐3‐methlyglutaric aciduria
  • Glutaric aciduria
• Enzymatic defects in fat metabolism

  • Carnitine deficiency
  • Transferase deficiency
  • Long‐chain and medium‐chain acyl CoA dehydrogenase deficiencies

Drugs or poisons

• Salicylates

• Alcohol (EtOH)

• Propranolol

• Hypoglycemic agents (sulfonylureas)

• Pentamidine

• Hypoglycin (Jamaican vomiting sickness from unripe ackees)

Other causes

• Tumors

  • Hepatoma
  • Adrenocortical carcinoma
  • Wilms' tumor
  • Neuroblastoma
  • Others

• Cyanotic congenital heart disease

Hypotonia

Hypotonia is decreased resistance to passive movement. It is usually associated with joint hypermobility and decreased reflexes. It may or may not be associated with weakness (i.e., diminished muscle power).

Generalized brain insults

• Hypoxic‐ischemic encephalopathy

• After seizures (post‐ictal)

• Sepsis

• Meningitis

• Hypotonic cerebral palsy

Spinal cord disorders

• Trauma

• Spinal dysraphism

  • Meningomyelocele

• Abscess

• Neoplasm

• Transverse myelitis

• Anterior horn cell disorders

  • Spinal muscular atrophy (Werdnig‐Hoffman disease)
  • Polio and other enteroviral infections

Peripheral nervous system disorders

• Acute disorders

  • Guillain‐Barré syndrome
• Chronic disorders

  • Hereditary motor sensory neuropathy

    • Charcot‐Marie‐Tooth disease
    • Refsum's disease
  • Leukodystrophies

Neuromuscular junction disorders

• Botulism

• Myasthenia gravis

• Tick paralysis

Muscle disorders

• Myopathies

  • Congenital
  • Mitochondrial
  • Metabolic

    • Glycogen storage diseases
    • Carnitine deficiency
• Periodic paralysis

  • Hypokalemic
  • Hyperkalemic
  • Normokalemic
• Muscular dystrophies

  • Congenital
  • Duchenne's
  • Becker
  • Limb‐girdle
  • Fascioscapulohumeral
• Myotonic dystrophy

  • Congenital
  • Later‐onset

• Dermatomyositis

• Polymyositis

Metabolic disorders

• Amino acid disorders

• Organic acid disorders

  • Methylmalonic acidemia
  • Propionic acidemia
• Lipidoses

  • Tay‐Sachs disease
  • Niemann‐Pick disease

• Leukodystrophies (Krabbe's disease)

• Mucopolysaccharidoses

• Mucolipidoses

• Peroxisomal disorders

Endocrine disorders

• Hypothyroidism

• Hypopituitarism

Chromosomal disorders and syndromes

• Down syndrome

• Achondroplasia

• Ehlers‐Danlos syndrome

• Marfan's syndrome

• Opitz syndrome

• Prader‐Willi syndrome

• Velocardiofacial (Shprintzen's syndrome)

• Sotos syndrome

• Others

Benign essential hypotonia

Jaundice & Hyperbilirubinemia

Jaundice refers to the yellow color of the skin and sclera caused by hyperbilirubinemia. Bilirubin is a breakdown product of heme, derived from red blood cells. Bilirubin is carried to the liver by albumin, where it is conjugated by glucuronyl transferase to a water‐soluble form. Bilirubin is then excreted into the small intestine as bile and eliminated in the stool. Hyperbilirubinemia is classified as unconjugated (indirect) hyperbilirubinemia or conjugated (direct [directly measured]) hyperbilirubinemia.

Neonatal Unconjugated Hyperbilirubinemia

Physiologic jaundice

Increased bilirubin production

• Cephalohematoma or other bleed with resorption of heme

• Polycythemia

  • Delayed umbilical cord clamping
  • Twin‐to‐twin transfusion
  • Maternal‐fetal transfusion
  • Maternal diabetes
• Isoimmunization

  • Rh
  • ABO
  • Other reactions
• Red blood cell enzyme defects

  • Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency
  • Pyruvate kinase deficiency
  • Other defects
• Red blood cell membrane defects

  • Hereditary spherocytosis
  • Hereditary elliptocytosis
  • Other defects

Decreased bilirubin conjugation

• Glucuronyl transferase deficiency (Crigler‐Najjar syndrome)

  • Type I
  • Type II

• Transient familial hyperbilirubinemia (Lucy‐Driscoll syndrome)

Decreased intestinal elimination

Intestinal obstruction

• • Pyloric stenosis
  • Duodenal atresia
  • Ileal atresia
  • Other obstructions

• Lack of feeding

• Delayed passage of meconium

  • Hirschsprung's disease
  • Meconium ileus

Other causes

• Breast milk‐associated jaundice

• Hypothyroidism

• Hypoalbuminemia

• Drugs

  • Sulfa drugs
  • Cephalosporins

• Sepsis

• Hypoxia or acidosis

Postneonatal Unconjugated Hyperbilirubinemia

Increased bilirubin production

• Hemolytic anemia (see Anemia in Differential Diagonsis [Section II])

• Sepsis

Decreased bilirubin conjugation

• Gilbert disease

• Glucuronyl transferase deficiency (Crigler‐Najjar syndrome)

Neonatal Conjugated Hyperbilirubinemia

Infectious causes

• Toxoplasmosis

• Rubella

• Cytomegalovirus

• Herpesvirus

• Syphilis

• Varicella virus

• Enterovirus

• Hepatitis B virus

• Sepsis or bacterial agents

• Urinary tract infection

Biliary obstruction

• Intrahepatic obstruction

  • Congenital biliary atresia–hypoplasia of intrahepatic biliary ducts
  • Alagille's syndrome
  • Byler's disease
• Extrahepatic obstruction

  • Biliary atresia
  • Congenital malformations of the biliary tree

Total parenteral nutrition

Metabolic disorders

• α₁‐Antitrypsin deficiency

• Cystic fibrosis

• Zellweger syndrome

• Galactosemia

• Glycogen storage disease

• Hereditary fructose intolerance

• Tyrosinemia

• Lipidoses

  • Niemann‐Pick disease
  • Gaucher's disease

• Neonatal hemosiderosis

Other causes

• Idiopathic neonatal hepatitis

• Inspissated bile syndrome (persistent direct hyperbilirubinemia associated with isoimmune hemolytic disease)

• After asphyxia

Postneonatal Conjugated Hyperbilirubinemia

Infectious causes

• Hepatitis A, B, C, D, E

• Epstein‐Barr virus

• Cytomegalovirus

• Varicella virus

• Peritonitis

• Parasitic infections

• Liver abscess

Chronic hepatitis

• Chronic persistent hepatitis

• Chronic active hepatitis

Drugs and chemicals

• Acetaminophen

• Phenytoin

• Isoniazid

• Carbon tetrachloride

• Mushroom poisoning

• Chemotherapy agents

• Alcohol

• Other chemicals

Biliary tract disease

• Cholelithiasis

• Cholecystitis

• Choledochal cyst

• Cholangitis

• Pancreatic malformations or disease

Familial hepatic disorders

• Dubin‐Johnson syndrome

• Rotor syndrome

Total parenteral nutrition

Cirrhosis

Neoplasms

• Primary hepatic tumors

• Metastatic disease

Metabolic disorders

• Wilson disease

• Hemochromatosis

• Neonatal causes (see earlier)

Other causes

• Reye's syndrome

• Ischemic liver injury

• Porphyria

Knee Pain

Knee pain is acute or chronic pain in or around the knee caused by one of multiple bone, tendon, ligament, muscle, or cartilage abnormalities (see Knee Maneuvers in Charts, Formulas, Laboratory Test and Values [Section IV]). The knee is a hinge joint with bony, ligamentous, muscle, and menisci involvement. Abnormal function, acute injury, or chronic inflammation of any element may cause knee pain, which also may be referred from disorders of the hip or back.

Associated Risk Factors

• Approximately 10% to 12% of patients presenting with musculoskeletal pain have knee pain.

• Knee injuries account for 30% to 40% of sports medicine injuries in the pediatric and adolescent populations.

• Hypermobility or hypermobile joint increases the risk of injury.

• Injury, anomaly, or infection of bones, ligaments, tendons, and muscles may lead to knee pain.

Anatomic Factors

• Bones involved in the knee

  • Femur: physis (growth plate) close to the knee joint

    • The distal femoral physis is the most active growth plate in body.
    • Medial and lateral condyles articulate with the tibial plateau.
    • Condyles are connected by the trochlear groove.
    • The anterior portion of the condyles and trochlear groove articulates with the patella.
    • Fusion occurs at approximately age 15 years in girls (range, 12 to 17 years) and age 17 years in boys (range, 15 to 20 years).
  • Tibia: proximal growth plate close to the knee joint

    • The physis is responsible for significant growth.
    • Flattened tibial plateau articulates with the femoral condyles.
  • Patella: initially cartilaginous, with ossification beginning as early as age 2 to 3 years

    • The patella, a sesamoid bone, is attached within the distal quadriceps.
    • It normally tracks parallel to the long axis of the lower extremity, moving caudad with flexion and cephalad with extension.
    • It articulates with the intertrochlear groove and femoral condyles.
• Ligaments (static restraints that stabilize joints)

  • Anterior cruciate ligament (ACL) and posterior cruciate ligament (PCL)

    • The ACL is the most commonly injured ligament.
    • The ACL and PCL are the major restraints to anterior and posterior tibial translation.
  • Medial collateral ligament (MCL) and lateral collateral ligament (LCL)

    • MCL protects against valgus stress and is more commonly injured than the LCL or PCL.
    • LCL protects against excessive varus stress.
• Medial and lateral menisci (protect against mechanical loading)

  • Menisci are centrally avascular.
• Joint capsule and tendon sheaths (protect against medial and lateral stresses)

  • Medial retinaculum
  • Lateral retinaculum, iliotibial band
• Large tendons and muscles (lend dynamic stability to the knee) (shock absorbers)

  • Quadriceps (anterior thigh) group, anteriorly, laterally, and medially; vastus medialis portion medially and vastus lateralis portion laterally
  • Hamstrings (posterior thigh), posteriorly with medial and lateral heads; biceps femoris laterally and semitendinous medially
  • Popliteus muscles (calf), laterally
  • Sartorius, medially
  • Gastrocnemius, posteriorly (lateral and medial heads)

Disorders leading to knee pain

• Patellofemoral pain syndrome (PFPS)

  • Patellofemoral dysplasia
  • Patellofemoral dysfunction
  • Patellar tracking abnormalities
  • Runner's knee
  • Peripatellar pain syndrome

• Chondromalacia patella (term used in the past to denote PFPS but is a specific diagnosis based on arthroscopic findings)

• Patellar subluxation and dislocation

• Osteochondritis dissecans

• Osgood‐Schlatter disease (tibial tuberosity apophysitis)

• Sinding‐Larsen‐Johansson syndrome (patella apophysitis)

• Jumper's knee (patellar tendonitis)

• Quadriceps tendonitis

• Fractures

  • Patella
  • Proximal tibia (tibial plateau)
  • Proximal fibula
  • Distal femur, femoral condyles
  • Pathologic fracture through cysts or tumors, especially of the femur or tibia

• Medial plica syndrome

• Ligament injuries

  • ACL tear or strain
  • LCL strains, sprains, or ruptures
  • MCL strains, sprains, or ruptures
  • PCL strains, sprains, or ruptures

• Meniscal tear

• Discoid meniscus

• Iliotibial band syndrome

• Arthritis

  • Infectious
  • Inflammatory
  • Overuse
  • Juvenile
  • Systemic lupus erythematosus (SLE), other collagen vascular diseases
  • Reiter's syndrome
  • Other
• Osteomyelitis

  • Staphylococcus
  • Salmonella
  • Streptococcus
  • Other

• Bone cyst

• Bone or muscle tumor

• Baker's (popliteal) cyst

• Rhabdomyoma of thigh or calf

• Bursitis (of prepatellar, pes anserine, or infrapatellar [medial] bursa)

  • Overuse
  • Inflammatory
  • Traumatic
  • Infectious

• Synovitis

• Referred hip pain

  • Developmental dysplasia of hip
  • Aseptic necrosis femoral head
  • Slipped capital femoral epiphyses
  • Legg‐Calvé‐Perthes disease
  • Synovitis of the hip
  • Arthritis (infectious, inflammatory, juvenile, SLE)

• Referred spinal pain

Limp

A limp is an abnormality of gait, which is normally a smooth movement of transferring weight from one leg to the other.

Leg length inequality

• Congenital abnormality

• Hip dislocation

• Hip dysplasia

• Bony malformation

Neuromuscular disorders

• Myalgia

• Trauma

• Recent intramuscular immunization

• Spinal cord neuropathy

• Patellofemoral syndrome

• Osgood‐Schlatter disease

• Cerebral palsy

Bone disorders

• Legg‐Calvé‐Perthes disease (avascular necrosis)

• Slipped capital femoral epiphysis (SCFE)

• Osteochondritis dissecans

Infection

• Arthritis (knee, hip, ankle)

• Bursitis

• Toxic synovitis

• Diskitis

• Toxoplasmosis

• Trichinosis

• Osteomyelitis

• Plantar wart

Systemic disorders

• Systemic lupus erythematous

• Acute rheumatic fever

• Polyarteritis nodosa

• Rheumatoid arthritis

• Polymyositis

• Dermatomyositis

• Thrombophlebitis

• Sickle cell disease

Neoplasm

• Leukemia

• Neuroblastoma

• Osteogenic sarcoma

• Ewing's sarcoma

Trauma

• Fracture

• Stress fracture

• Sprain

• Injury to cartilage or ligaments

• Tendonitis

• Muscle strain

• Foreign body

Macrocephaly

Macrocephaly is a large head size, generally defined as greater than the 99th percentile for age and sex on charts of head circumference. Megalencephaly refers to large brain size and is usually determined by radiologic studies.

Normal variation (familial)

Hydrocephalus

• Noncommunicating hydrocephalus (obstruction within the ventricular system)

  • Aqueductal stenosis
  • Dandy‐Walker malformation
  • Masses

    • Tumors
    • Vascular malformations
    • Arachnoid cysts
• Communicating hydrocephalus (block in resorption of cerebrospinal fluid)

  • Arnold‐Chiari malformations
  • Sequelae of meningitis or intracranial hemorrhage
• Excessive secretion of cerebrospinal fluid (CSF)

  • Choroid plexus papilloma

Hydrancephaly

• Congenital malformation with absence of the cerebral hemispheres, replaced by CSF

Porencephaly

• Congenital malformation with cavities in the brain filled with CSF

Subdural hematoma

Tumor

Pseudotumor cerebri

• Benign intracranial hypertension

Vascular malformation

• Vein of Galen malformation

• Arteriovenous malformation

Neurocutaneous syndromes

• Neurofibromatosis

• Tuberous sclerosis

• Sturge‐Weber syndrome

Megalencephaly

• Genetic or syndromic causes

  • Achondroplasia
  • Hypochondroplasia
  • Sotos' syndrome
  • Fragile X syndrome
  • Weaver syndrome
• Metabolic disorders

  • Gangliosidoses (Tay‐Sachs disease)
  • Mucopolysaccharidoses
  • Alexander disease
  • Canavan disease

Abnormal skull

• Chronic, severe anemia

• Genetic or syndromic causes

  • Osteopetrosis syndromes

Microcephaly

Microcephaly is a head size less than the 1st percentile for age and sex on charts of head circumference.

Normal variation

Genetic or syndromic causes

• Autosomal dominant microcephaly

• Autosomal recessive microcephaly

• Chromosomal abnormalities

  • Trisomy 21
  • Trisomy 13
  • Trisomy 18
• Dysmorphic syndromes

  • Williams syndrome
  • Velocardiofacial syndrome (Shprintzen's syndrome)
  • Smith‐Lemli‐Opitz syndrome
  • Angelman's syndrome
  • Bloom syndrome
  • Others

Structural defects of the brain

• Cerebral dysgenesis or hypoplasia

Infections

• Congenital infections

  • Rubella
  • Cytomegalovirus
  • Toxoplasmosis
  • Herpes simplex
  • Syphilis

• Meningitis (sequelae)

Trauma

Irradiation

Hypoxic or ischemic insult

Malnutrition

Maternal causes

• Drugs

  • Fetal alcohol syndrome
  • Fetal hydantoin syndrome
  • Fetal aminopterin syndrome

• Maternal phenylketonuria

• Severe maternal malnutrition

Craniosynostosis

Mouth Sores & Ulcers

Cold sores (fever blisters), canker sores, and other lesions can occur on the inner cheeks, palate, tongue, gums, or lips.

Inflammation

• Aphthous stomatitis

• Acute necrotizing ulcerative gingivostomatitis (trench mouth)

• Mucositis with neutropenia

Infection

• Herpes simplex virus infection

• Enterovirus infection

  • Herpangina
  • Hand‐foot‐mouth disease

• Candidal oral infection (especially in immunocompromised and young infants)

• Syphilis

Trauma

• Sucking blister

• Caustic ingestion

• Irradiation or chemotherapy

Contact allergy

• Gold dental restorations

• Lip balm

Syndromic or systemic conditions

• Stevens‐Johnson syndrome

• Erythema multiforme major

• PFAPA syndrome (periodic fever, apthous, stomatitis, pharyngitis, cervical adenitis)

• Crohn's disease

• Behçet's syndrome

• Reiter's syndrome

• Systemic lupus erythematosus

Nasal Discharge or Rhinorrhea

Rhinorrhea is a discharge from the nose. Rhinitis refers specifically to inflammation of the mucous membranes of the nose and may be caused by infectious and noninfectious processes.

Infections

• Viral

• Bacterial (sinusitis)

Allergies

Irritants

• Smoke (especially from cigarettes)

• Cocaine

• Topical sympathomimetic nose drops

• Other

Foreign body

Cerebrospinal fluid leak

• Trauma

• Skull defect

Neck Mass

Most neck masses in children are enlarged lymph nodes caused by infection. Lymphadenitis refers to inflammation of a lymph node or nodes associated with enlargement, warmth, redness, tenderness, and sometimes, fluctuance. Lymphadenopathy refers to enlarged, noninflamed lymph nodes.

Infection

• Lymphadenitis

  • Bacterial

    • Staphylococcus aureus
    • Group A streptococci
    • Cat‐scratch disease (Bartonella henselae)
    • Group B streptococci
    • Anaerobes
  • Viral
  • Fungal
  • Mycobacterial

• Local lymphadenopathy (head or neck infection)

• Systemic lymphadenopathy

  • Mononucleosis
  • Cytomegalovirus
  • Toxoplasmosis
  • Human immunodeficiency virus (HIV)
  • Other
• Salivary gland infection

  • Parotitis

• Infection of congenital anomaly or tract (see later)

Congenital anomalies

• Branchial cleft

• Thyroglossal duct cyst

• Dermoid cyst

• Laryngocele

• Cystic hygroma, lymphangioma

• Fibrous dysplasia of the sternocleidomastoid (torticollis)

• Squamous epithelial cyst

Thyroid disorders

• Thyroiditis

  • Autoimmune (Hashimoto's disease)
  • Bacterial
  • Viral

• Graves disease (hyperthyroidism)

• Neoplasm

• Idiopathic enlargement

• Congenital

  • Defective thyroid hormone synthesis
  • Maternal Graves disease
  • Maternal antithyroid drugs

Neoplasm

• Hemangioma

• Neurofibroma

• Keloid

• Lipoma

• Leukemia

• Lymphoma

• Neuroblastoma

• Rhabdomyosarcoma

• Histiocytosis X

• Salivary gland tumor

• Thyroid (see earlier)

Trauma

• Hematoma

• Subcutaneous emphysema

• Foreign body

Allergic reaction

• Local bite or sting

Other causes of lymphadenopathy

• Kawasaki disease

• Serum sickness

• Collagen vascular disease

Petechiae

Petechiae are circumscribed deposits of blood that are less than 0.5 cm in diameter. They are nonblanching.

Noninfectious causes

• Leukocytoclastic vasculitis

• Platelet abnormalities

• Progressive pigmentary purpura

• Scurvy

• Senility (trauma)

• Leukemia

Infectious causes

• Bacterial infections

  • Neisseria meningitidis
  • Neisseria gonorrhoeae
  • Streptococcus pneumoniae
  • Group A streptococci
  • Borrelia species (relapsing fever)
  • Staphylococcus aureus
  • Capnocytophaga canimorsus
  • Haemophilus influenzae type b
  • Rat bite fever (Streptobacillus moniliformis)
• Viral infections

  • Enterovirus infection
  • Coxsackievirus A9 infection
  • Echovirus 9 infection
  • Ebstein‐Barr virus infection
  • Cytomegalovirus infection
  • Atypical measles
  • Viral hemorrhagic fever
  • Adenovirus infection
  • Influenza
  • Dengue virus infection
  • Rubella
  • Yellow fever
• Rickettsial diseases

  • Rocky Mountain spotted fever (Rickettsia rickettsii)
  • Endemic Rickettsia typhi or typhus epidemic (Rickettsia prowazekii)
  • Rickettsialpox (Rickettsia akari )
  • Scrub or chigger typhus (Rickettsia tsutsugamushi)
  • Malaria (Plasmodium falciparum)

Pink Eye or Red Eye

Pink eye or red eye is erythema of the bulbar conjunctiva (conjunctivitis) that often involves the cornea (keratitis).

Infection

• Conjunctivitis

  • Viral

    • Adenovirus
    • Herpesvirus
    • Influenza
    • Measles
  • Bacterial

    • Chlamydial
    • Gonococcal
    • Haemophilus influenza (usually nontypeable H. influenza)
    • Staphylococcus aureus
    • Streptococcus pneumoniae
  • Other causes

    • Molluscum on lid may lead to inflammation of cornea and conjunctivae.
    • Phthirus pubis (pubic lice) infestation of eyelashes may manifest as conjunctivitis (feces of louse irritate conjunctiva).
• Keratitis

  • Dendritic
  • Epidemic keratoconjunctivitis (adenovirus)

Inflammation

• Keratoconjunctivitis sicca (associated with collagen vascular diseases)

• Uveitis (photophobia, tearing, deep aching, and prominent perilimbal blood vessels)

• Episcleritis (mild, patchy inflammation of tissue beneath the conjunctiva)

• Scleritis (patchy inflammation of sclera, severe pain)

Allergic causes

• Immediate (itching is the hallmark)

  • Hay fever (rapid injection, chemosis, tearing, itching)
• Delayed

  • Contact dermatitis (eye cosmetics; usually lid erythema and edema without conjunctival injection)

• Vernal conjunctivitis (recurring inflammation, presumed allergic; typically occurs in warm weather)

Trauma

• Usually can illicit history of trauma to the eye

• Blunt trauma

  • Traumatic iritis (photophobia, decreased vision, small pupil)
  • Traumatic hyphema (blood in anterior chamber that may make the cornea appear dark red)

• Perforating trauma (obvious deformity to globe)

• Corneal abrasion (use fluorescein and examine with Wood's lamp to detect abrasions)

• Burn

  • Chemical

    • Alkali and acid (alkali severe because of ongoing protein discoagulation)
    • Silver nitrate
    • Petroleum
    • Super glue or crazy glue (moisture dissolves glue; no long‐term issues but may take days to weeks to resolve)
  • Thermal

• Foreign body

Congenital abnormality

• Nasolacrimal duct obstruction (usually epiphora [tear overflow onto cheek] and accumulation of mucoid discharge, with mild or no redness)

• Congenital glaucoma (conjunctival injection late, with large eye, light sensitivity, excessive tear production, change in clarity of cornea)

Orbital cellulitis

• Other signs of orbital involvement (proptosis, chemosis, diplopia or inability to move eye, pain with eye movement) are as or more prominent than injection.

Systemic diseases

• Ataxia‐telangiectasia (large, tortuous vessels on bulbar conjunctiva)

• Lyme disease (nonspecific conjunctivitis may be present before onset of erythema chronicum migrans)

• Juvenile arthritis (anterior uveitis or iritis, perilimbal conjunctival injection)

• Kawasaki disease (associated with conjunctivitis that spares the perilimbal area)

• Leukemia

• Inflammatory bowel disease

• Stevens‐Johnson syndrome

Proteinuria, Isolated

Proteinuria is a condition in which the urine contains an abnormal amount of protein. Proteinuria may occur with or without hematuria. Disorders involving hematuria and proteinuria are discussed in Hematuria in Differential Diagnosis (Section II).

Diagnostic Considerations

• Transient proteinuria occurs in up to 12% of children; only 0.5% to 5% of children have persistent proteinuria.

• Urinary protein excretion is considered abnormal if it exceeds 4 mg/m²/hr. This corresponds approximately to a 2+ or greater protein value on the urine dipstick.

• Sulfosalicylic acid testing (combining sulfosalicylic acid with urine) is more reliable; increasing turbidity indicates protein and is graded from 1 to 4.

• A ratio of urine protein to creatinine of more than 0.2 on a random urine sample suggests significant proteinuria.

• A 24‐hour urine collection is the most accurate method of protein detection. The nephrotic range for proteinuria is defined as greater than or equal to 40 mg/m²/hr.

Causes of proteinuria

• Persistent benign proteinuria

• Orthostatic (postural) proteinuria

• Fever

• Dehydration

• Vigorous exercise

• Extreme cold

• Congestive heart failure

• Drugs or toxins

  • Aminoglycosides
  • Heavy metals
  • Nonsteroidal anti‐inflammatory agents
  • Captopril
  • Lithium
  • Outdated tetracycline
• Nephrotic syndrome

  • Minimal change disease
  • Focal segmental glomerulosclerosis
  • Membranous nephropathy
  • Congenital nephrotic syndrome
• Congenital or structural anomalies

  • Renal dysplasia
  • Polycystic kidney disease
  • Cystic kidneys
  • Vesicoureteral reflux
  • Obstructive uropathy

• Pregnancy (preeclampsia, eclampsia)

• Excessive serum protein level

  • Leukemias
  • Myeloma
  • Myoglobinuria
  • Hemoglobinuria

Purpura

Purpuras are red or purple skin lesions caused by hemorrhage into the skin; they do not blanch. Purpura can be caused by disruption of vascular integrity, platelet deficiency or dysfunction, or coagulation defects. Purpura can be divided into petechiae and ecchymoses. Petechiae are less than 3 mm in diameter and macular. Ecchymoses are larger than 3 mm in diameter and may be macular or raised. Ecchymoses may also be tender.

Disruption of Vascular Integrity

Trauma

• Accidental

• Abuse

• Violent coughing or vomiting

• Coining or Cupping

• Iatrogenic (blood draws or intravenous placement)

• Self‐inflicted

Infections

• Viral

• Group A streptococci

• Sepsis

  • Meningococcus (Neisseria meningitidis)
  • Gonococcus (Neisseria gonorrhoeae)
  • Hemophilus influenzae type B
  • Staphylococcus aureus
  • Others

• Bacterial endocarditis

• Rocky Mountain spotted fever and other rickettsial diseases

• Hemorrhagic fevers caused by arenaviruses and bunyaviruses (hantaviruses)

Drugs

• Corticosteroids

Vasculitis

• Henoch‐Schönlein purpura

• Collagen vascular disorders

• Osler‐Rendu‐Weber disease (hereditary hemorrhagic telangiectasia)

Connective tissue diseases

• Ehlers‐Danlos syndrome

• Marfan's syndrome

• Osteogenesis imperfecta

Other systemic diseases

• Vitamin C deficiency (scurvy)

• Histiocytosis X

• Erythema nodosum

• Cushing's syndrome

• Ataxia‐telangiectasia

Platelet Deficiency (Thrombocytopenia)

Increased destruction of platelets

• Maternal‐fetal forms

  • Isoimmune thrombocytopenia (PLA1 antigen)
  • Maternal idiopathic thrombocytopenic purpura
  • Maternal systemic lupus erythematosus (SLE)
• Immune‐mediated forms

  • Idiopathic thrombocytopenic purpura (ITP)
  • Drug induced

    • Sulfa drugs
    • Phenytoin
    • Carbamazepine
    • Acetazolamide
    • Quinidine
  • Collagen vascular diseases (especially SLE)
• Microangiopathic disorders

  • Hemolytic uremic syndrome (HUS)
  • Thrombotic thrombocytopenic purpura (TTP)
  • Disseminated intravascular coagulation (DIC)

• Wiskott‐Aldrich syndrome

• Giant platelet disorders

  • May‐Hegglin anomaly
  • Bernard‐Soulier syndrome

Decreased production of platelets

• Bone marrow infiltration

  • Leukemia
  • Neuroblastoma
  • Other malignancies
  • Osteopetrosis
• Bone marrow suppression

  • Sepsis
  • Viral infection
  • Congenital infections (syphilis, toxoplasmosis)
  • Drugs
  • Irradiation
  • Acquired aplastic anemia
  • Congenital aplastic anemia (Fanconi anemia)

• Thrombocytopenia absent radius (TAR) syndrome

Sequestration of platelets

• Hypersplenism

• Kasabach‐Merritt syndrome (large hemangioma)

Platelet Dysfunction

Congenital forms

• Bernard‐Soulier syndrome

• Glanzmann thrombasthenia

• Gray platelet syndrome

• Storage pool disorders

Acquired or drug‐induced forms

• Aspirin

Coagulation Defects

Vitamin K deficiency

Coagulation factor abnormalities

• Factor VIII deficiency (hemophilia A)

• Factor IX deficiency (hemophilia B, Christmas disease)

• Von Willebrand disease

• Dysfibrinogenemias (factor I)

• Others

Liver disease

Disseminated intravascular coagulation (DIC)

Drugs

• Coumadin

• Heparin

Anticoagulants associated with collagen vascular disease or malignancy

Scrotal Swelling

Scrotal swelling is the enlargement of the scrotum beyond the normal volume. The presence or absence of pain is the most useful characteristic in determining the cause of scrotal swelling.

Painful Swelling

• Torsion of the testis

• Torsion of the appendix testis

• Trauma

  • Hematoma
  • Ruptured testis
  • Mild swelling

• Epididymitis

• Orchitis

• Incarcerated inguinal hernia

• Scrotal cellulitis

• Contact dermatitis

Painless swelling

• Hydrocele

• Inguinal hernia

• Varicocele

• Edema

  • Henoch‐Schönlein purpura
  • Generalized edema
  • Idiopathic scrotal edema
• Tumor

  • Age less than 2 years: yolk sac carcinoma
  • After puberty: germinal cell tumor

• Antenatal torsion of the testis (newborn)

Seizures

A seizure is an abnormal discharge of neurons in the cerebral cortex, typically manifested as unusual movements with or without loss of consciousness (see Febrile Seizures and Seizures in Diseases and Disorders [Section I]). Seizures may be difficult to distinguish from syncope (see Table 2‐2 in Syncope in Differential Diagnosis [Section II]) and from other nonseizure movements. Seizures during childhood are most often febrile or idiopathic, and an underlying cause often cannot be identified. In the newborn period, most seizures have an underlying cause, and every effort should be made to determine the cause.

Table 2‐2.

Differences between Syncope and Seizure

Characteristic	Syncope	Seizure
History	May include anxiety, fasting, hyperventilation, illness, prolonged standing	Prior seizures, febrile illness
Period of unconsciousness	Usually several seconds	Often several minutes or longer
Tonic‐clonic movements	Generally absent; sometimes seen if unconsciousness has a longer duration	Frequently present
Incontinence	Usually absent	Often present
Confusion after event	Usually absent	Marked, except with febrile seizures

Neonatal Period

Infectious causes

• Meningitis

• Encephalitis

  • Herpesviruses
  • Enteroviruses
  • Other congenital infections

• Sepsis

Central nervous system or neurologic causes

• Congenital anomalies, including chromosomal abnormalities

• Intracranial hemorrhage

• Vascular anomalies

• Embolus or infarction

• Venous thrombosis

• Hypoxic‐ischemic encephalopathy

• Bilirubin encephalopathy

Metabolic causes

• Hypoglycemia

• Hypocalcemia

• Hypomagnesemia

• Hyponatremia

• Hypernatremia

• Uremia

• Inborn errors of metabolism

Drug withdrawal

Hypertension

Idiopathic causes (uncommon)

Postneonatal Period

Infectious causes

• Meningitis

• Encephalitis

• Brain abscess

• Parasites

Central nervous system or neurologic disorders

• Intracranial hemorrhage

• Tumor

• Cerebral contusion

• Congenital malformation

• Hypoxia or ischemia

• Vascular anomalies

• Embolus or infarction

• Vasculitis

• Venous thrombosis

Metabolic causes

• Hypoglycemia

• Hypocalcemia

• Hypomagnesemia

• Hyponatremia

• Hypernatremia

• Uremia

• Inborn errors of metabolism

Drugs or toxins

• Intoxication

• Withdrawal

Hypertension

Neurocutaneous syndromes

• Neurofibromatosis

• Tuberous sclerosis

• Sturge‐Weber syndrome

• Epidermal nevus syndrome

• Others

Degenerative cerebral disorders

• Lipidoses

  • Tay‐Sachs disease
  • Niemann‐Pick disease
• Leukodystrophies

  • Krabbe's disease

• Mucopolysaccharidoses

• Mucolipidoses

• Glycoprotein disorders

• Peroxisomal disorders

• Mitochondrial disorders

• Others

Idiopathic causes (common)

Febrile disorders

Eclampsia

Movements that may be confused with seizures

• Pseudoseizures

• Hysteria

• Tic disorder

• Movement disorder (chorea)

• Syncope

• Breath‐holding spells

• Night terrors

• Rage attacks

• Sandifer's syndrome (gastroesophageal reflux)

• Childhood masturbation

• Head banging

Sore Throat

Sore throat is any painful sensation localized to the mouth, pharynx, or surrounding tissues. Most cases of sore throat are caused by infections.

Infectious causes

• Upper respiratory viruses

• Group A streptococci

• Herpes stomatitis

• Enteroviruses

• Mononucleosis (Epstein‐Barr virus)

• Mycoplasma pneumoniae

• Neisseria gonorrhoeae

• Peritonsillar abscess

• Retropharyngeal abscess

• Epiglottitis

• Diphtheria

Foreign body

Irritants

• Dry air

• Allergens

• Caustic substances

Referred pain

• Dental conditions

• Cervical adenitis

• Otitis media

Splenomegaly, Isolated

Splenomegaly is enlargement of the spleen. The spleen may be palpable in premature infants and some newborns; otherwise, a palpable spleen should be considered enlarged. For hepatosplenomegaly, see Hepatomegaly & Hepatosplenomegaly in Differential Diagnosis (Section II).

Infectious causes

• Viral infections

  • Epstein‐Barr virus
  • Cytomegalovirus
  • Herpes simplex virus
  • Enterovirus
  • Varicella virus
  • Human immunodeficiency virus (HIV)
• Bacterial infection

  • Sepsis
  • Endocarditis
  • Tuberculosis
  • Splenic abscess
  • Brucellosis
• Parasites

  • Malaria
  • Schistosomiasis
  • Others
• Fungal infection

  • Histoplasmosis
• Rickettsial infection

  • Rocky Mountain spotted fever

Trauma or splenic laceration

• Hemolytic anemia (see Anemia in Differential Diagnosis [Section II])

• Intrinsic red cell defects

  • Hemoglobinopathies
  • Membrane abnormalities
  • Enzyme defects
• Extrinsic causes

  • Immune disorders
  • Physical trauma
  • Chemicals

Splenic sequestration

• Sickle cell disease

Neoplasms

• Leukemia

• Lymphoma

• Splenic tumor

Collagen vascular disease

• Systemic lupus erythematosus

• Juvenile rheumatoid arthritis

Portal hypertension

• Obstruction of the portal vein or its branches

• Portal vein thrombosis

  • Omphalitis
  • Umbilical vein catheterization

• Cirrhosis

• Extrinsic compression

Stridor & Stertor

Stridor is a harsh, continuous noise most often heard during inspiration. Stertor refers to heavy, snoring‐type breathing during inspiration. Stridor usually results from obstruction of the laryngeal or tracheal airways. Stertor is produced in the nasopharynx or oropharynx.

Nasopharynx

• Congestion

• Foreign body

• Polyp

• Congenital anomalies

  • Choanal atresia
  • Dermoid cyst
  • Encephalocele
• Neoplasms

  • Hemangioma
  • Angiofibroma
  • Rhabdomyosarcoma

Oropharynx

• Enlarged tonsils or adenoids

• Infection

  • Mononucleosis
  • Peritonsillar abscess
  • Retropharyngeal abscess
  • Ludwig's angina

• Foreign body

• Poor tone or poor swallowing

• Congenital anomalies

  • Micrognathia
  • Macroglossia
  • Thyroglossal duct cyst or lingual thyroid
• Neoplasms

  • Hemangioma
  • Lymphangioma
  • Rhabdomyosarcoma

Larynx

• Infection or inflammation

  • Croup
  • Epiglottitis
• Laryngospasm

  • Anaphylaxis
  • Angioneurotic edema
  • Hypocalcemia

• Foreign body

• Congenital anomalies

  • Laryngomalacia
  • Laryngeal web
  • Laryngocele
  • Laryngeal cleft
  • Subglottic stenosis

• Vocal cord paralysis

• Traumatic intubation

  • Laryngeal or subglottic edema
  • Subglottic stenosis

• Neck trauma

• Neoplasms

  • Laryngeal papilloma
  • Hemangioma
  • Lymphangioma or cystic hygroma

Trachea

• Infection or inflammation

  • Bacterial tracheitis
  • Laryngotracheobronchitis

• Foreign body

• Congenital anomalies

  • Tracheomalacia
  • Tracheal ring, web, cyst
  • Tracheal stenosis
  • Tracheoesophageal fistula
  • Vascular anomalies

• Traumatic intubation or tracheostomy leading to tracheal stenosis

• Neoplasms

  • Papilloma
  • Hemangioma
  • Lymphangioma or cystic hygroma
  • Neoplasm of adjacent structure (thyroid, thymus, esophagus)
  • Mediastinal tumor

Syncope

Syncope or fainting refers to a transient, usually sudden, loss of consciousness caused by inadequate delivery of blood, oxygen, or glucose to the brain. Loss of consciousness lasting more than several seconds should raise suspicion for a seizure rather than a syncopal episode, and Table 2‐2 reviews some characteristics that may be helpful in differentiating between the two.

Vasovagal syncope (common faint)

Postural or orthostatic syncope

Cardiac disorders

• Structural disorders

  • Severe left or right outflow tract obstructions (aortic or pulmonic stenosis)
  • Hypertrophic cardiomyopathy
  • Pulmonary hypertension
  • Hypoxemic attack with tetralogy of Fallot (“tet spell”)
• Arrhythmias

  • Prolonged Q‐T syndrome
  • Bradyarrhythmias associated with second‐ or third‐degree heart block
  • Tachyarrhythmias (supraventricular tachycardia, ventricular tachycardia, ventricular fibrillation)

Respiratory disorders

• Hyperventilation

• Breath‐holding

• Coughing or tussive syncope (often associated with asthma or pertussis)

Metabolic Causes

• Hypoglycemia

• Anemia

Psychologic Causes

• Acute stress

• Hysteria

Other causes

• Micturition syncope

• Hair‐grooming syncope

Tachycardia

Tachycardia is defined as a heart rate greater than the upper limit of normal for age (Table 2‐3 ).

Table 2‐3.

Tachycardia

Age	Normal Heart Rate (beats/min)
Birth	110–160
6 mo to 1 yr	100–140
2 to 3 yr	90–110
4 to 5 yr	80–100
6 to 8 yr	70–100
9 to 12 yr	70–90
13 yr +	55–80

Physical causes

• Fever

• Dehydration

• Exercise

• Anemia

• Congestive heart failure

• Hypoglycemia

• Hyperthyroidism

• Pheochromocytoma

Psychogenic causes

• Anxiety

• Fear

• Strong emotion

Drugs or toxins

• Caffeine

• Tobacco

• Albuterol

• Pseudoephedrine

• Antihistamines

• Cocaine

• Amphetamines

• Antidepressants

• Organophosphates

• Antiarrhythmics

• Others

Intrinsic cardiac dysrhythmias

• Supraventricular tachycardia

  • Wolff‐Parkinson‐White syndrome
  • Other re‐entrant atrial tachycardias
  • Ectopic atrial focus
  • Nodal tachycardia
  • Congenital heart disease

    • Ebstein's anomaly
    • Single ventricle
  • Postoperative cardiac repair
  • Drugs
• Ventricular tachycardia

  • Prolonged Q‐T syndrome
  • Myocarditis
  • Acute rheumatic fever
  • Hypertrophic cardiomyopathy
  • Myocardial ischemia or infarction
  • Congenital heart disease
  • Postoperative cardiac repair
  • Drugs
  • Metabolic causes

    • Hyperkalemia
    • Hypocalcemia

Torticollis

Torticollis means “twisted neck.” Head tilt is the predominant finding and often is accompanied by neck stiffness. Contraction or contracture of the muscles of the neck causes the head to be tilted to one side. The head usually is tilted toward and the chin is rotated away from the affected side when the sternocleidomastoid (SCM) muscle is in spasm.

Congenital conditions

• Muscular (SCM muscle hematoma with scarring, presumably from birth trauma)

• Vertebral anomaly (hemivertebrae or other vertebral segmentation abnormalities)

  • Klippel‐Feil syndrome (decreased number and fusion of cervical vertebrae)

• Intrauterine positional abnormality, perhaps leading to shortening of SCM muscle

• Congenital nystagmus

  • Spasmus mutans (usually manifests before 6 months with head bobbing, head tilt, and nystagmus)

Infection

• Retropharyngeal or, less commonly, peritonsillar cellulitis or abscess

• Cervical adenopathy or adenitis

• Vertebral osteomyelitis

• Pneumonia (particularly upper lobe disease)

• Tuberculosis

Ocular conditions

• Cranial nerve (CN) palsies, especially CN IV (head tilts to allay diplopia)

• Nystagmus

Trauma

• Neck muscle spasm caused by primary muscle (SCM) injury or vertebral injury

• Myositis or fibromyositis (inflammation or spasm of SCM from draft on neck or wry neck)

• C‐spine injury

  • Fracture
  • Subluxation
  • Dislocation

    • Dislocation and subluxation more common with bony dysplasias (achondroplasia)
    • Ligamentous laxity (trisomy 21)

• Clavicle fracture

Tumors

• Posterior fossa tumor

• Eosinophilic granuloma (may involve vertebrae)

• Osteoid osteoma (nighttime pain, relieved by acetylsalicylic acid)

• Intraspinal tumor

Movement disorders that may partially involve Torticollis

• Dystonia

  • Dystonia musculorum deformans
  • Kernicterus
  • Wilson disease (hepatolenticular degeneration)
• Dystonic reactions (oculogyric crisis)

  • Phenothiazines

    • Antidepressants

      • Chlorpromazine
      • Droperidol
      • Fluphenazine
      • Haloperidol
      • Thioridazine
      • Trifluoperazine
      • Selective serotonin reuptake inhibitors (rare)
    • Antiemetics

      • Prochlorperazine (Compazine)
      • Trimethobenzamide (Tigan)
    • Motility agents

      • Metoclopramide (Reglan)
  • Other medications
  • Sandifer syndrome (gastroesophageal reflux with dystonia‐like movements, presumably in response to discomfort of esophagitis, patient tries to reposition to relieve pain, which leads to writhing movements)

Miscellaneous Causes

• Juvenile arthritis

• Fibrodysplasia ossificans progressiva

• Ligamentous laxity

• Poliomyelitis

• Cerebral palsy

Vaginal Bleeding

Vaginal bleeding is normal during the immediate neonatal period (caused by maternal hormone withdrawal) and during menstruation. Menstruation is periodic shedding of endometrial tissue and blood that accompanies puberty in girls. Menstrual bleeding can be categorized as normal or excessive. Menstrual patterns in the first 2 years after menarche (onset of menses) vary widely. A menstrual period usually is considered excessive if it lasts longer than 8 days or if more than eight pads or tampons are soaked at the peak of the cycle. Menstrual periods usually occur at intervals of 21 to 34 days.

Vaginal Bleeding Before Menarche

• Physiologic bleeding in the neonate

• Trauma

  • Accidental injury
  • Sexual abuse
  • Scratching

    • Pinworms

• Foreign body

• Vulvovaginitis

  • Group A β‐hemolytic streptococci
  • Shigella
  • Neisseria gonorrhoeae
  • Candida

• Urethral prolapse

• Exogenous estrogens

• Precocious puberty

• Tumor

  • Papilloma
  • Adenocarcinoma
  • Others

Vaginal Bleeding After Menarche

• Normal menstruation

• Trauma

  • Accidental injury
  • Sexual abuse
  • Scratching

    • Pinworms

• Foreign body

• Dysfunctional uterine bleeding

• Vulvovaginitis

  • Neisseria gonorrhoeae
  • Group A β‐hemolytic streptococci
  • Shigella
  • Candida
• Cervicitis or pelvic inflammatory disease

  • N. gonorrhoeae
  • Chlamydia trachomatis
• Pregnancy‐related causes

  • Ectopic pregnancy
  • Spontaneous abortion
  • Placenta previa
  • Abruptio placenta
• Contraceptive use

  • Oral contraceptives
  • Medroxyprogesterone injection
  • Intrauterine device
• Bleeding disorder

  • Von Willebrand disease
  • Idiopathic thrombocytopenic purpura

• Hypothyroidism

• Tumor

  • Papilloma
  • Adenocarcinoma
  • Others

Vaginal Discharge

Vaginal discharge can be normal during the first month of life and periodically after puberty. This discharge is called physiologic leukorrhea, and it is stimulated by maternal or pubertal estrogens. It is not associated with pain or irritation. Any vaginal discharge after the neonatal period in the prepubertal child or that is accompanied by discomfort is abnormal.

Vaginal Discharge Before Puberty

• Physiologic leukorrhea in the neonate

• Noninfectious vulvovaginitis

  • Poor hygiene
  • Chemical irritation

    • Soaps and detergents
    • Bubble baths
• Infectious vulvovaginitis

  • Not sexually transmitted

    • Pinworms
    • Group A streptococci
    • Haemophilus influenzae
    • Shigella species
    • Gardnerella vaginalis
  • Sexually transmitted

    • Neisseria gonorrhoeae
    • Chlamydia trachomatis
    • Trichomonas vaginalis
    • Herpes simplex virus

• Foreign body

• Smegma

• Genitourinary malformations

Vaginal Discharge After Puberty

• Physiologic leukorrhea

• Noninfectious vulvovaginitis

  • Poor hygiene
  • Chemical irritation

    • Soaps and detergents
    • Bubble baths
• Infectious vulvovaginitis

  • Not sexually transmitted

    • Candida albicans (yeast)
    • Gardnerella vaginalis
  • Sexually transmitted

    • N. gonorrhoeae
    • C. trachomatis
    • T. vaginalis
    • Herpes simplex virus
• Cervicitis or pelvic inflammatory disease

  • N. gonorrhoeae
  • C. trachomatis

• Foreign body

Vomiting & Regurgitation

Vomiting is the forceful expulsion of stomach contents through the mouth. Regurgitation refers to the nonforceful expulsion of stomach or esophageal contents from the mouth. The differential diagnosis of vomiting and regurgitation varies by age of the child.

Newborn (Birth to Several Weeks)

Normal variation (normal regurgitation or “spitting”)

Obstructive gastrointestinal causes

• Esophageal obstruction

  • Esophageal atresia or stenosis
  • Tracheoesophageal fistula
  • Esophageal web
  • Vascular rings
  • Hiatal hernia
  • Other congenital esophageal abnormalities
• Gastric obstructions

  • Pyloric stenosis
  • Antral web
  • Gastric duplication
  • Gastric atresia
  • Gastric volvulus
  • Lactobezoar
• Small intestine obstructions

  • Duodenal atresia or stenosis
  • Malrotation with or without volvulus
  • Annular pancreas
  • Preduodenal portal vein
  • Meconium ileus
  • Jejunoileal atresia or stenosis
  • Enteric duplications
• Large‐intestine obstructions

  • Colonic atresia or stenosis
  • Hirschsprung's disease
  • Imperforate anus
  • Meconium plug
  • Enteric duplication

Nonobstructive gastrointestinal causes

• Overfeeding

• Excessive air swallowing or poor burping

• Gastroesophageal reflux

• Formula allergy or intolerance

• Necrotizing enterocolitis or perforation

Infectious causes

• Sepsis

• Meningitis

Neurologic causes

• Increased intracranial pressure (ICP)

  • Intracranial hemorrhage
  • Hydrocephalus
  • Cerebral edema
• No increased ICP

  • Kernicterus

Endocrine causes

• Congenital adrenal hyperplasia

Metabolic causes

• Amino acid disorders, including urea cycle disorders

• Organic acid disorders

• Carbohydrate metabolism disorders, including galactosemia

Renal causes

• Obstructive uropathy

• Renal insufficiency or failure

Infant (Several Weeks to 1 Year)

Normal variation (normal regurgitation or “spitting”)

Obstructive gastrointestinal causes

• Esophageal obstruction (usually acquired, as opposed to congenital causes of obstruction cited earlier)

  • Foreign body
  • Esophageal stricture secondary to esophagitis
  • Retroesophageal abscess
• Gastric obstructions

  • Pyloric stenosis
  • Bezoar or foreign body
  • Gastric volvulus
• Small‐intestine obstructions

  • Malrotation with or without volvulus
  • Intussusception
  • Incarcerated inguinal hernia
  • Meckel's diverticulum complications
  • Meconium ileus equivalent
  • Adhesions (after surgery)
  • Intramural hematoma
  • Neoplasms (polyps or lymphoma)
  • Pancreatic pseudocyst
• Large‐intestine obstructions

  • Hirschsprung's disease
  • Intussusception
  • Meconium plug
  • Adhesions (after surgery)
  • Neoplasms (polyps, lipomas, fibromas, or lymphoma)

Nonobstructive gastrointestinal causes

• Overfeeding

• Excessive air swallowing or poor burping

• Gastroenteritis

• Gastroesophageal reflux

• Formula allergy or intolerance

• Celiac disease

• Gastritis

• Peritonitis

• Paralytic ileus

Infectious causes

• Sepsis

• Meningitis

• Pneumonia

• Pyelonephritis or urinary tract infection

• Pertussis

• Hepatitis

Neurologic causes

• Increased ICP

  • Intracranial hemorrhage
  • Brain tumor
  • Hydrocephalus
  • Cerebral edema

Endocrine causes

• Adrenal insufficiency

• Hypercalcemia

Metabolic causes

• Amino acid disorders

• Organic acid disorders

• Carbohydrate metabolism disorders

Renal causes

• Obstructive uropathy

• Renal insufficiency or failure

Drugs or toxins

Child and Adolescent (>1 Year)

Obstructive gastrointestinal causes

• Esophageal obstruction

  • Foreign body
  • Esophageal stricture from esophagitis
  • Retroesophageal abscess
• Gastric obstructions

  • Bezoar
• Small‐intestine obstructions

  • Malrotation with or without volvulus
  • Intussusception
  • Incarcerated inguinal hernia
  • Meckel's diverticulum complications
  • Meconium ileus equivalent
  • Adhesions (after surgery)
  • Intramural hematoma
  • Neoplasms (polyps or lymphoma)
  • Pancreatic pseudocyst
• Large‐intestine obstructions

  • Hirschsprung's disease
  • Intussusception
  • Adhesions (after surgery)
  • Neoplasms (polyps, lipomas, fibromas, or lymphoma)

Nonobstructive gastrointestinal causes

• Gastroenteritis

• Appendicitis

• Peptic ulcer disease

• Pancreatitis

• Celiac disease

• Gastritis

• Peritonitis

• Paralytic ileus

• Superior mesenteric artery syndrome (ischemia)

Infectious causes

• Streptococcal pharyngitis

• Meningitis

• Pneumonia

• Pyelonephritis or urinary tract infection

• Hepatitis

• Sepsis

Neurologic causes

• Increased ICP

  • Brain tumor
  • Intracranial hemorrhage
  • Cerebral edema
• No increased ICP

  • Migraine
  • Motion sickness

Endocrine causes

• Diabetic ketoacidosis

• Adrenal insufficiency

Metabolic causes

• Amino acid disorders

• Organic acid disorders

• Carbohydrate metabolism disorders

Renal causes

• Obstructive uropathy

• Renal insufficiency or failure

Drugs or toxins

Pregnancy

Psychologic disorders

• Anxiety

• Bulimia

Other causes

• Abdominal migraine

• Abdominal epilepsy

• Cyclic vomiting

• Reye's syndrome

Wheezing

Wheezing is a continuous, high‐pitched sound that is classically heard during expiration, but it may be heard during inspiration. Wheezing usually is caused by lower airway (small bronchi or bronchioles) obstruction, but rarely, it may be caused by obstruction of the bronchi or trachea. Although “all that wheezes is not asthma,” much of it is.

Asthma

Bronchiolitis

Anaphylaxis

Foreign body

Gastroesophageal reflux

Congenital anomalies

• Cystic malformations of the lung

• Vascular ring

• Tracheoesophageal fistula

• Tracheobronchomalacia

• Congenital heart disease

Intrinsic lung disease

• Cystic fibrosis

• Bronchopulmonary dysplasia

• α₁‐Antitrypsin deficiency

• Immotile cilia syndrome

• Pulmonary hemosiderosis

• B‐cell immunodeficiencies

Mediastinal masses

• Lymph nodes

  • Lymphoma
  • Leukemia
  • Tuberculosis
  • Sarcoidosis
  • Histoplasmosis
• Tumors

  • Neuroblastoma
  • Ganglioneuroma
  • Thymoma
  • Teratoma

Hysterical or psychogenic wheezing other causes

• Organophosphate poisoning

• Smoke inhalation

• Swallowing disorder