Differential diagnosis of stridor in infants & children
Diagnosis Distinguishing Features
Croup
(Laryngotracheobronchitis) - - Most common from age 6 months to 6 years Associated with “barky” cough, fever, rhinorrhea & congestion Laryngomalacia - Stridor most severe at age 4-8 months - Persistent stridor that worsens in supine position & improves in prone position Foreign body aspiration - Stridor caused by laryngotracheal foreign bodies has acute onset - Associated with moderate-to-severe respiratory distress Vascular Ring - Presents before age 1 year - Persistent stridor that improves with neck extension - Associated with cardiac abnormalities (50%) Croup (laryngotracheitis) Pathogenesis - Parainfluenza viral infection – inflammation of larynx & trachea Epidemiology - Age 6 months to 3 years - Fall, early winter Clinical Features - Inspiratory stridor - “Barky” seal-like cough - Hoarse voice Treatment - Mild (no stridor at rest: corticosteroids) - Moderate/severe (stridor at rest): corticosteroids + nebulized epinephrine Key respiratory tract infection in children
Diagnosis Classic pathogen Presentation
Laryngotracheitis (croup) - Parainfluenza virus - Age 6 months to 3 years - “Barky” coughing, stridor,
hoarse voice
Epiglottitis - Haemophilus influenza - Unvaccinated children - Sore throat, dysphagia, drooling, “tripod position” Bronchiolitis - Respiratory Syncytial Virus - Age <2 years - Wheezing, coughing Pertussis in Infants and Children Clinical Phases Catarrhal
1-2 weeks Paroxysmal 2-6 weeks weeks to months Convalescent - Mild cough, Rhinitis - Coughing paroxysms with inspiratory “whoops” - Symptoms resolve gradually Diagnosis - Pertussis Culture or PCR - Lymphocyte predominant leukocytosis Treatment - Macrolides (azithromycin, erythromycin, clarithromycin) Prevention - Acellular Pertussis Vaccine Complications - Pneumonia, weight loss, subconjunctival hemorrhages, pneumothorax, respiratory failure, death (infants)
Measles (Rubeola) – Paramyxovirus SS -RNA Clinical Presentation Prodromal: - Fever, malaise, & anorexia - Conjunctivitis, coryza, cough, Koplik spots Exanthema - Blanching, reddish-brown maculopapular rash - Cephalocaudal & centrifugal spread - Usually spares palms/soles Diagnosis - Polymerase chain reaction - Acute & convalescent serology for Antimeasles IgM & IgG Prevention - Live attenuated measles vaccine Treatment - Supportive care - Vitamin A for hospitalized children Complication - Otitis media - Pneumonia Neurologic - Encephalitis (within days) - Acute disseminated encephalomyelitis (within weeks) - Subacute sclerosing panencephalitis (within years) - Gastroenteritis Rubella (German measles) – Togavirus SS +RNA Clinical Presentation Congenital disease: - Sensorineural hearing loss - Intellectual disability - Cardiac anomalies - Cataracts, glaucoma Children: - Low-grade fever - Conjunctivitis, coryza, cervical lymphadenopathy, Forschemier spots - Cephalocaudal spread of blanching, erythematous maculopapular rash Adolescents/Adults: Same as children _ arthralgia/arthritis Diagnosis - Polymerase Chain Reaction - Acute & Convalescent serology for anti-rubella IgM & IgG Prevention - Live attenuate rubella vaccine Treatment - Supportive care Beckwith-Weidman syndrome Pathogenesis - Deregulation of imprinted gene expression in chromosome 11p15**** à IGF-2 Physical Examination - Fetal macrosomia, rapid growth until late childhood - Omphalocele or umbilical hernia - Macroglossia - Hemihyperplasia Complications - Monitor closely for hypoglycemia - Wilms tumor** - Hepatoblastoma Surveillance - Serum alpha fetoprotein - Abdominal/renal ultrasound
Differential Diagnosis of Regurgitation & vomiting in infants
Diagnosis Clinical features Management
Gastroesophageal reflux - Physiologic - Asymptomatic - “Happy spitter” - Reassurance - Positioning therapy - Pathologic (GERD) - Failure to thrive - Significant irritability - Sandifer Syndrome - Thickened feed - Antacid therapy
- If severe, esophageal pH probe monitoring & upper endoscopy Milk-Protein Allergy - Regurgitation/vomiting - Eczema - Bloody stools - Elimination of dairy & soy protein from diet Pyloric Stenosis - Projectile vomiting - Olive-shaped abdominal mass - Dehydration, weight loss - Abdominal ultrasound - Pylormyotomy Prader-Willi Syndrome Clinical Features - Hypotonia - Weak suck/feeding problems in infancy - Hyperphagia/obesity - Short stature - Hypogonadism - Intellectual disability - Dysmorphic facies: Narrow forehead, Almond-shaped eyes, Downturned mouth Diagnosis - Deletion on paternal 15q11-q13 Complications - Sleep apnea - Type 2 DM - Gastric distension/rupture - Death by choking Differential Diagnosis of Otalgia Diagnosis Clinical Features Acute Otitis Media - Middle ear effusion plus acute eardrum inflammation (eg, bulging ear drum, fever) Otitis Media w/effusion - Middle ear effusion without acute inflammation Bullous Myringitis - Serous liquid filled blisters on the tympanic membrane Cerumen Impaction - Liquid or hard wax in auditory canal obstructing eardrum visualization Hemotympanum - Purple or red eardrum +/- bulging Otitis externa - Pain with tragal traction, erythematous & swollen external auditory canal +/- otorrhea
Acute Otitis Media Microbiology - Streptococcus pneumonia - Nontypable Haemophilus influenza - Moraxella catarrhalis Clinical Features - Middle ear effusion - PLUS - Bulging tympanic membrane Treatment - Initial: Amoxicillin - 2nd Line: Amoxicillin-clavulanic acid Complication - Conductive hearing loss - Mastoiditis - Meningitis Otitis Externa Risk Factors - Trauma/foreign material (eg, cotton swab, hearing aid) - Exposure to outdoor water sources (eg, swimming) - Skin disruption (eg, psoriasis, eczema, contact dermatitis) Clinical Manifestations - Pruritus, pain & discharge, hearing loss - Tenderness with tragal pressure/auricle manipulation - Ear canal with erythema edema & cerumen/purulent debris Management - Remove debris from canal (eg, wire loop) - Ototopical corticosteroid (inflammation) plus antibiotic (infection) - Culture of exudate in recalcitrant cases Gaucher Disease Etiology - AR, ↑prevalence in Ashkenazi Jews - Glucocerebrosidase deficiency à gluocerebroside accumulation in macrophages Typical
Features - - Sever splenomegaly Anemia, thrombocytopenia - Bony pain
- FTT, delayed puberty Management - Enzyme Replacement
Cyanotic heart disease in newborns
Diagnosis Examination X-ray FIndings
Transposition of the Great Vessels - Single S2 - +/- VSD - “Egg on a String Heart” (narrow mediastinum) Tetralogy of Fallot - Harsh pulmonic stenosis murmur - VSD murmur - “Bootshaped” heart (RV hypertrophy) Tricuspid atresia - Single S2 - VSD murmur - Minimal pulmonary blood flow Truncus Arteriosus - Single S2 - Systolic ejection murmur (decreased flow through truncal valve) - Increased pulmonary blood flow, edema Total Anomalous venous return with obstruction - Severe cyanosis
- Respiratory Distress - Pulmonary edema, “snowma” sign (enlarged supracardiac veins & SVC) Pediatric Viral Myocarditis Etiology - Coxsackie B Virus - Adenovirus Clinical Presentation - Viral prodrome - Heart failure: Dyspnea, syncope, tachycardia, nausea, vomiting, hepatosplenomegaly Diagnostic Studies - Chest x-ray: - Cardiomegaly - Pulmonary edema - ECG Sinus Tachycardia - Echocardiogram - Decreased ejection fraction - Diffuse hypokinesis - Endomyocardial biopsy: (Gold standard) Inflammatory infiltrate of the myocardium with myocyte necrosis Prognosis - Mortality - Newborns: ~75% - Older infants/children: ~25% - Outcome of survivors - Full recovery within 203 months ~60% - Dilated cardiomyopathy/CHF ~33% Neonatal Conjunctivitis
Type Age of Onset Findings Treatment
Chemical - < 24 hr - Frequently occurs after application of silver nitrate prophylaxis
- Mild conjunctiva irritation/injection & tearing after silver nitrate ophthalmic prophylactics
- Eye lubricant
Gonococci - 2-5 days - Marked eyelid swelling, profuse purulent discharge, corneal edema/ulceration
- IV or IM ceftriaxone or cefoxaime
Chlamydial - 5-14 days - Eyelid swelling, chemosis; watery, bloody, or
mucopurulent eye discharge - Oral erythromycin
Risk factors for brain abscess
Predisposing Problem Pathogenesis Affected Area
Otitis media, mastoiditis - Direct Spread - Temporal lobe, cerebellum Frontal/Ethmoid Sinusitis - Direct Spread - Frontal Lobe
Dental infection - Direct Spread - Frontal Lobe
Bacteremia from other sites of infection, cyanotic heart disease - Hematogenous Spread - Multiple abscesses along distribution of middle cerebral artery (gray white junction) Serum Sickness Like Reaction Etiology - Antibiotics (Beta-Lactams, sulfa) MC Clinical Features - Fever, uticaria & polyarthralgia 1-2 weeks after first exposure - Headache, edema, lymphadenopathy & splenomegaly less common Treatment - Remove/avoid offending agent - Steroids for sever cases Diagnostic Tests in Urinary Tract Infections Serum BUN and Creatinine - Estimate renal Function Urine dipstick - Qualitative measures of urine properties Urinalysis - Qualitative measures of urine properties Urine Culture - Identification, quantification, & susceptibility testing of bacterial colonies Vitamin K Deficiency Risk Factors
- Inadequate dietary intake (eg, malnutrition) Disorders of fat malabsorption - Cystic Fibrosis - Biliary atresia Disorders of intestinal inflammation - Celiac Disease - IBD
Decreased production by bacteria flora (eg, frequent antibiotic use)
Clinical Features - - Easy bruising Mucosal bleeding - GI Bleeding Laboratory Findings - ↑PT & INR - Normal aPTT (unless severe deficiency)
Sickle Cell Anemia Pathophysiology - AR inheritance of sickle beta globin mutation in African and Hispanic population Clinical Features - Hemolytic Anemia - Dactylitis - Acute vassoclusive pain crises- functional asplenia –m Streptococcus pneumoniae Laboratory Findings - Decreased Hematocrit - Increased Reticulocytes - Increased serum LDH, - Increased Unconjugated bilirubin - PBS: Sickled Red Cells, and Howell-Jolly bodies Management Maintenance - Vaccination - Penicillin (until age 5) - Folic Acid Supplementation - Hydroxyurea (for patients with recurrent vassoclusive crises) Acute Pain Crisis - Hydration - Analgesia - +/- Transfusion Acute Severe anemia in Sickle cell disease
Cause Reticulocytes Key features
Aplastic Crisis
↓
- - Transient arrest of erythropoiesis Secondary to infection (eg, Parvovirus B19) Splenic Sequestration crisis↑
- Splenic vasooclusion à rapidly enlarging spleen - Occurs in children prior to autospenectomy Clinical Features of Sickle Cell Trait Clinical Presentation - Benign Condition with HbAS - No clinical symptoms of Sickle Cell Anemia - More prevalent in Africa, the Middle East, & Mediterranean countries, African American and Hispanic communities - No change in overall life expectancy Diagnosis - Normal Hb, and reticulocyte count, normal RBC indices & morphology - Diagnosed with Hb electrophoresis, shows both Hb A & HbS, with the amount of Hb A greater than HbS Complications - Renal: Hematuria, UTI, renal medullary carcinoma - Thrombosis: Splenic infarction (especially at higher altitudes), venous thromboembolism, priapismMedulloblastoma - Second MC posterior fossa tumor in children (first is cerebellar astrocytoma) - Most occur in the cerebellar vermis à Symptoms include truncal or gait instability - Also caused obstructive hydrocephalus à Increased ICP (eg, headache and vomiting) - Potential for leptomeningeal spread - Treated aggressively with a combination of surgery, craniospinal radiation and chemotherapy Key Features of Craniopharyngioma - Low grade malignancy derived from remnants of Rathke pouch - Optic chiasm compression à Bitemporal hemianopia - Pituitary stalk compression à endocrinopathies (eg, GH deficiency, Diabetes insipidus) - Suprasellar calcified mass on imaging - CT/MRI: Calcifications Osteosarcoma: The MC Primary Bone tumor, boys 13-16, the tumor occurs most often at the metaphysis of long bones such as the distal femur, proximal tibia, and proximal humerus. Constitutional symptoms such as fever, malaise, and weight loss are usually absent. X-RAY: Spiculated, sun burst and periosteal elevation known as Codman’s triangle. ALP and LDH are elevated from damaged osteoclasts. (Ewing Sarcoma has the “onion skin appearance”)
Hemoglobin Electrophoresis Patterns
Diagnosis Hemoglobin A Hemoglobin S Hemoglobin F
Normal ~99% O% <1% Sickle cell disease (AR) 0% 85-95% 5-15% Sickle cell trait 30-60% 35-45% <2% Hemolytic Uremic Syndrome Pathogenesis - Initial insult from Shiga toxin MC E. Coli [0157:H7] - Vascular damage and microthrombi formation Clinical Features - Antecedent diarrheal illness (often bloody) - Microangiopathic hemolytic anemia à Fatigue, pallor, Schistocytes as passes through glomeruli - Thrombocytopenia à bruising, petechiae - Acute Kidney Injury à Oliguria, edema - Hemolytic anemia (↑Bun, ↑Cr) Treatment - Fluid and electrolyte management - Blood transfusions - Dialysis Clinical features of pineal gland masses Parinaud syndrome (Dorsal midbrain syndrome) Pineal gland in quadrigeminal cistern and makes melatonin à from pressure on pretectal region of the midbrain near the superior colliculus and CN 3. - Limited upward gaze - B/L Upper Eyelid retraction (Collier sign) - Pupils non-reactive to light, reactive to accommodation Obstructive hydrocephalus (blockage at Aqueduct of Silvius) - Papilledema - Headache, vomiting - Ataxia Breath-holding spells Clinical Features - Cyanotic - Crying follow by breath-holding in forced expiration, apnea, cyanosis, limpness & loss of consciousness - Pallid – Minor trauma follow by loss of consciousness, breath holding, pallor, and diaphoresis Management - CBC
Growing Pains Clinical Features - Occurs primarily at night & resolved by morning - Affects lower extremities (eg thighs and calves) usually bilaterally - Normal physical examination and activities Treatment - Parental education & reassurance - Massage, stretching exercises, heat & analgesics Common oropharyngeal lesions in children Diagnosis Clinical Features Apthous Stomatitis (canker cores) - Recurrent ulcers on the anterior oral mucosa (lips, cheeks, mouth, floor, ventrum of the tongue) - No fever or systemic signs Herpangina - Vesicle and ulcers on posterior oropharynx - Fever Herpes Gingivostomatitis - Vesicles and ulcers on anterior oral mucosa & around mouth - Fever Group A Streptococcal
Pharyngitis - - Tonsillar Exudates Fever & anterior cervical lymphadenopathy Infectious Mononucleosis - Tonsillar exudates - Fever, diffuse cervical lymphadenopathy - +/- Hepatosplenomegaly Herpangina versus herpetic gingivostomatitis
Diagnosis Herpangina Herpetic Gingivostomatitis
Etiology - Coxsackie A virus - HSV-1
Age - 3-10 years - 6 months-5 years
Seasonality - Summer/early fall - None
Clinical Features - Fever - Pharyngitis - Gray vesicles/ulcers on posterior oropharynx and tonsillar pillars - Fever - Pharyngitis - Erythematous gingiva - Clusters of small vesicles on anterior oropharynx/lips
Treatment - Supportive Management - Acyclovir
Neonatal Displaced clavicular fracture Risk Factors - Fetal macrosomia (maternal diabetes, post term pregnancy) - Instrumental delivery (vacuum or forceps) - Shoulder dystocia Clinical Features - Crying/pain with passive motion of effected extremity - Crepitus over clavicle - Asymmetric Moro Reflex Diagnosis - X-Ray Treatment - Reassurance - Gentle Handling - Analgesics - Place affected arm in a long-sleeved garment and pin sleeve to chest with elbow flexed at 90 degree Breast feeding failure Jaundice vs Breast Milk Jaundice
Diagnosis Timing Pathophysiology Clinical Features
Breastfeeding failure jaundice - 1st week of life - Unconjugated Cracked/clogged nipples, Lactation failure resulting in: - êBilirubin Elimination - éenterohepatic circulation Baby (poor latch) - Suboptimal breast feeding - Signs of Dehydration (Brick red urate crystals in diaper, decreased urine output) - Next Step: Breast feed 15 minute per side every 2-3 hours Breast milk jaundice - Starts at age 3-5 days; peaks at 2 weeks High levels of β- glucouronidase in breast milk de-conjugates intestinal bilirubin and increase enterohepatic circulation - Adequate breast feeding - Normal examination – NO SIGNS OF DEHYDRATION OR FEEDING PROBLEMS!!! - Normal infants pass dark sticky meconium during the first 2 days of life, after which they should transition to yellowish or green stool and ingesting adequate milk. Pediatric Abdominal Wall Defect Diagnosis Clinical Features Umbilical Hernia - Defect at linea alba covered by skin - Sometimes contains bowel - Umbilical cord inserts at apex of defect Gastroschisis - Defect to right of the cord insertion not covered by membrane or skin - Contains bowel - Umbilical cord inserts next to defect Omphalocoele - Midline abdominal wall defect covered by peritoneum - Contains multiple abdominal organs - Umbilical cord inserts at apex of defect
Differential Diagnosis of delayed passage of meconium
Diagnosis Level of Obstruction Meconium Consistency
Hirschprung Disease Rectosigmoid Normal
Meconium Ileus Ileum inspissated
Symptom/Sign Pre-septal Cellulitis (Infection of eyelid anterior to orbital septum) Orbital Cellulitis (Posterior to orbital septum) Eyelid Edema + + Eyelid erythema + + Eyelid tenderness + + Fever +/- +/- Leukocytosis +/- +/- Opthalmoplegia - + Pain with extraocular movements - + Proptosis - +/- Vision Impairment Diplopia, Decreased Visual Acuity - +/- Milk soy protein induced colitis Epidemiology - Presents at age 2-8 weeks - Family history of allergies, eczema, or asthma Clinical Features - Regurgitation or vomiting - +/- Painless bloody stools - +/- Eczema Treatment - Elimination of milk &/or soy from maternal diet of exclusively breast fed infants - Initiation of hydrolyzed formula in formula-fed infants Prognosis - Spontaneous resolution by 1 year Maternal Estrogen Effects in Newborns - Breast Hypertrophy (girls and boys) - Swollen labia - Physiologic leucorrhea (whitish vaginal discharge) - Uterine withdrawal bleeding Circumstances in which minors do not require consent Medical circumstances - Emergency care - Sexually transmitted infection - Substance abuse (most states) - Prenatal care (most states) Emancipated Minor - Homeless - Parent - Married - Military - Financially Independent - High school graduate
Hemophilia A and B Pathophysiology - XR of Factor 8, Hemophilia A, Factor 9, Hemophilia B Epidemiology - Occurs almost exclusively in males - Female carriers may have milder symptoms Clinical Features - Hemarthrosis, hemophilic arthropathy - Intramuscular hematomas - GI or Genitourinary tract bleeding Laboratory Findings - Normal Platelet Count - Normal Bleeding - Normal Prothrombin Time - Prolonged activate partial tromboplastin time - Decreased or absent factor 8 or 9 activity Treatment - Administer Factor 8 or Factor 9 Necrotizing Enterocolitis Risk Factors - Prematurity - Very low birth weight (<1.5kg) - Reduced mesenteric perfusion (hypotension, congenital heart disease) - Enteral feeding formula (formula>breast milk) Clinical Features - Systemic: Vital sign instability, lethargy - GI: Vomiting, bloody stools, abdominal distension, tenderness X Ray Findings - Pneuomatosis intestinalis - Portal venous gas - Pneumoperitoneum Treatment - Supportive care - à Bowel rest - à Parenteral hydration/nutrition - Broad-spectrum intravenous antibiotics - +/- Surgery Complications - Septic shock - Intestinal strictures - Short bowel syndrome - Death (up to 40%) Necrotizing Enterocolitis: Abdominal x-ray with air in the bowel wall and portal veins
Intussusception: Air or Water-soluble Contrast Enema (US shows a “target sign”) Mumps presents with fever and parotitis. Although mumps is generally self-limited, complications include aseptic meningitis and orchitis. PDA-dependent congenital heart disease - Coarctation of the aorta - D-transposition of the great arteries - Hypoplastic Left Heart Syndrome - Total anomalous venous connection - Tricuspid Atresia Childhood indications for renal and bladder ultrasound - Infants and children <24 months with a first febrile UTI - Recurrent febrile UTI in children of any age - UTI in a child of any age with a family history of renal or urologic disease, hypertension, or poor growth - Children who do not respond to appropriate antibiotic treatment
Muscular Dystrophies
Diagnosis Duchenne Becker Myotonic
Genetics - XR deletion of dystrophin gene on chromosome Xp21 - AD expansion of CTG trinucleotide repeat in DMPK gene on chromosome 19q13.3 Clinical Presentation - Onset: Age 3-5 - Progressive weakness, Gower Maneuver, calf pseudo-hypertrophy - Onset: Age 5-15 - Milder weakness compared to DMD - Onset: Age 12-30 - Facial weakness, handgrip, myotonia, dysphagia Comorbidities - Intellectual disability - Cardiomyopathy - Cardiomyopathy - Arrhythmias - Cataracts - Balding - Testicular atrophy/infertility Prognosis - Wheelchair dependent by adolescence - Death by age 20-30 from respiratory or heart failure - Death by age 40-50 from heart failure - Death from respiratory or heart failure depending on age of onset Evaluation of neonatal hydration Signs of Dehydration - Decreased wet diapers - Absence of tears - Sunken fontanel - Dry mucus membranes - Decreased skin turgor - Delayed capillary refill Management of weight loss <7% - Continue exclusive breast feeding - Follow-up at age 10-14 days to check that infant has regained birth weight >7% - Assess for motor dysfunction - Assess for lactation failure - Daily weights - Consider formula supplementation Neonatal Rashes
Diagnosis Clinical Presentation Treatment
Erythema Toxicum Neonatorum - Asymptomatic erythematous macules, papules, and pustules throughout the body - None Neonatal HSV - Three patterns: - Vesicular clusters on skin, eyes, & mucus membrane - CNS Infection - Fulminant, disseminated multiorgan disease - Acyclovir Neonatal Varicella - Fever, ranges from vesicular clusters on skin to fulminant, disseminated disease - Acyclovir SSSS - Fever, irritability & diffuse erythema followed by blistering & exfoliation, positive Nikolsky’s sign - Oxacillin, Nafcillin, or vancomycin
Common Causes of neonatal respiratory distress
Diagnosis Pathophysiology Clinical Features
Transient Tachypnea of the Newborn - Inadequate alveolar fluid clearance at birth results in mil pulmonary edema - Tachypnea that begins shortly after birth & resolves by day 2 of life - CXR: Bilateral perihilar linear streaking Respiratory Distress Syndrome L:S >3 fetal lung maturity - Surfactant deficiency results in alveolar collapse & diffuse atelectasis - (premature neonates with very low birth weight) - Severe respiratory distress & cyanosis after premature birth - CXR: Diffuse, reticulogranular, ground-glass appearance - Air bronchograms - Low lung volumes Tx: CPAP** Persistent pulmonary Hypertension - High pulmonary vascular resistance results in right to left shunting and hypoxia - Tachypnea and severe cyanosis - CXR: Clear lungs with decreased pulmonary vascularity Differential Diagnosis for Marfanoid Habitus
Diagnosis Distinguishing Features Overlapping Features
Marfan’s Syndrome - AD - Normal intellect - Superotemporal lens dislocation - Aortic root dilation - Pectus Deformity - Tall Stature - é Arm: Height Ratio - ê Upper: Lower segment ratio - Arachnodactyly - Joint hyperlaxity - Scoliosis Homocystinuuria Tx: B6, B12, and Folate to lower homocysteine levels - AR - Intellectual disability - Inferomedial Lens dislocation - Thrombosis (CVA) - Megaloblastic anemia - Fair complexion Monosymptomatic (isolated) Enuresis Definition - Urinary incontinence in children > 5 Workup - Urinalysis - Urologic imaging for children with significant daytime symptoms & history of recurrent UTI Management Behavior Modification - Avoid sugary/caffeinated beverages - Void regularly during the day & immediately before bedtime - Drink ample fluids in the AM & early afternoon, minimize fluid intake before bedtime - Reward system (eg, “gold star chart”) Enuresis alarm: 1st line intervention when behavior modification fail; best long-term outcome Pharmacotherapy: Best for short-term improvement; high risk of relapse - 1st line: Desmopressin - 2nd line: TCA Causes of secondary enuresis Etiology Associated Symptoms Psychological stress - Behavior regression, mood lability Urinary tract infection - Dysuria, hesitancy, urgency, abdominal pain Diabetes mellitus - Polyuria, polydipsia, polyphagia, weight loss, lethargy, candidiasis Diabetes Insipidus - Polyuria, polydipsia Obstructive sleep Apnea - Snoring, dry mouth, fatigue, hyperactivity, irritability
Layngomalacia Pathophysiology - Increased laxity of supraglottic structures Clinical Presentation - Inspiratory stridor - Worsens wen supine, crying or feeding - Improves in prone position - Begins in the neonatal period, peaks at age 4-8 months resolves by age 12-18 months Diagnosis - Flexible laryngoscopy showing collapse of supraglottic structures with inspiration * omega shaped epiglottis Management - Reassurance for most cases - Supraglottoplasty for sever symptoms (eg poor weight gain, apnea, cyanosis, rapidly worsening stridor) Common pathological causes of gynecomastia Increased estrogen production or peripheral conversion - Testicular, adrenal, or human chorionic gonadotropin-secreting tumors - Cirrhosis or malnutrition - Thyrotoxicosis - Congenital excessive aromatase activity - Androgen use - Drugs (eg, spironolactone, cimetidine, herbal products (eg, tea tree oil, lavender oil) Androgen deficiency - Primary or secondary male hypogonadism (eg, Kleinfelter’s syndrome, testicular damage) - Hyperprolactinemia - Renal failure Febrile seizure Risk factors - Fever from mild viral (eg influenza, adenovirus, HHV-6) or bacterial infection - Immunizations (DTaP, MMR) - Family history Diagnostic Criteria - Age 6mos – 6 years - Temperature >38C (100.4F) - No history of previous afebrile seizures - NO CNS infection - No acute systemic metabolic cause of seizure Subtypes Simple: - Non-focal (tonic-clonic or atonic) - 1 episode <15 minutes or multiple episodes <30 minutes Complex: - Focal - 1 episode >15 minutes or multiple episodes >30 minutes Management - Abortive therapy if seizure >5 minutes - Reassurance/education Prognosis - Normal development/intelligence - ~30% Risk of Recurrence - <5% risk of epilepsy
Contraindications & Precautions to diphtheria-, tetanus- &/or Pertussis containing Immunizations
Vaccine Component Contraindications Precautions
Diphtheria/tetanus - Anaphylaxis to vaccine ingredients - Moderate to sever acute illness +/- fever - GBS within 6 weeks of tetanus toxoid containing vaccine - Arthrus-type hypersensitivity reaction following diphtheria- or tetanus toxoid containing vaccine Pertussis - Anaphylaxis to vaccine ingredients - Progressive neurologic disorder (eg uncontrolled epilepsy, infantile spasms) - Encephalopathy within a week of previous vaccine does - Moderate or severe acute illness +/- fever - Reactions to previous doses: - Seizure within 3 days - Temperature >40.5 (105F) within 2 days - Hypotonic hyporesponsive episode within 2 days - Inconsolable, persistent crying within 2 days Kawasaki Disease Patient should have fever for ≥ 5 consecutive days as well 4 out of 5 1. Conjunctivitis: Bilateral, non exudative, spares limbs 2. Oral mucosal changes: erythema, fissured lips, “strawberry tongue” 3. Rash 4. Extremity Changes: Erythema, edema, desquamation of the hand and feet, usually the last manifestation 5. Cervical lymphadenopathy ≥ 1.5 cm usually unilateral, least consistent finding (present in <25-%-50% of patients In patients with atypical presentation, supporting laboratory evidence can include the following: - Elevated CRP protein, and ESR - Leukocytosis with neutrophils (as opposed to lymphocytosis in viral infections) - Reactive thrombocytosis - Sterile pyuria on urinalysis Diamond Black Fan Anemia - PE: Webbed neck, cleft lip, shielded chest, tri-phalangeal thumbs, and pale mucous membranes and conjunctivae - Lab: Macrocytic anemia, low reticulocyte count - Intrinsic defect of erythroid progenitor cells which results in increased apoptosis. No hypersegmentation of neutrophils
Common Causes of unilateral cervical Adenitis in Children
Pathogen Clinical Signs Treatment
S. Aureus S. Pyogenes - Acute onset - Associated cellulitis or suppuration - Clindamycin Anaerobic Bacteria - Older Children - Dental caries, - Periodontal disease - Clindamycin - Amoxicillin/Clavulanate Non-tuberculous mycobacteria - Pre-school aged children - No Systemic Symptoms - Slower Onset - Rarely tender - Excision - Macrolide +/- Rifampin Mycobacterium tuberculosis - Systemic Symptoms - Exposure History - Reactive PPD - 3 or 4 drug anti tuberculosis therapy
Bartonella Henslae - - Slower Onset Tender, but minimal cellulitis - Exposure to kittens or cats - None Needed Biliary Cysts Pathogenesis - Type 1 cysts are MC: Extrahepatic, single cystic dilation of the bile duct Clinical Manifestations - Classic triad of pain, jaundice, and palpable mass - Majority of cysts present at age <10 years - Infants can have jaundice acholic stools Diagnosis - Visualization on ultrasonography - ERCP Treatment - Surgical resection to relieve obstruction & prevent malignant transformation
Worm Symptoms Treatment
Ascaris Lumbricoides - hemoptysis, pulmonary infiltrate, abdominal pain - Embryonate and non embryonate eggs in fstiik - Albendazole Hookworms Ancylostomata duodenale, Necator americanus - Ovoid eggs in stool - Mebendazole Pinworms
Enterobius Vermicularis - - Nocturnal perianal inciting Cellophane tape applied to anus reveals eggs
- Pyrantel Palmoate or mebendazle
Strongyloides - Intestine à blood stream
à lungs - Ivermectin or thiabendazole
Visceral and ocular larva migrans - - Ocular: diethylcarbamazine
Whipworms
Trichuris Trichura - Rectal Prolapse - Mebendazole or Albendazole
McCune Albright Syndrome – 3 P’s - Precocious puberty - Pigmentations (café au lait spots) – (irregular borders in contrast to NF-1) - Polyostotic fibrous dysplasia à replacement of marrow by fibrous tissue. Presence of poorly formed woven bone. Primarily Targets rubs, femurs, or cranial bones of children and young adults. (Sheperd Crook Deformity of proximal femur) - Defect in G-Protein cAMP kinase function Intussusception Risk Factors - Recent viral illness or rotavirus vaccination - Pathological lead points: - à Meckel’s Diverticulum - à HSO - à Celiac Disease - à Intestinal tumor - à Polyps Clinical Presentation - Episodic crampy abdominal pain - “Currant jelly” stools - Sausage shaped abdominal mass Diagnosis - “Target sign” on USG Treatment - Enema (air or waters-soluble contrast) - Surgical removal of the lead point (if present) Bilious Emesis - Stop Feeds - NG tube decompression - IV fluids Abdominal X Ray Free air, hematemesis, instable vital signs
Dilated loops of Bowel Upper GI Series “Double Bubble” Sign
Surgery Contrast Enema Ligament of Treitz on the right side of abdomen Duodenal Atresia Microcolon Rectosigmoid Transition Zone Malrotation Meconium
Ileus Hirschprung Disease
Caput Succedaneum - Diffuse edematous swelling of soft tissues of scalp;; crosses suture lines - Disappears in the first few days; may lead to molding for weeks Cephalohematoma - Subperiosteal hemorrhage; does
not cross suture lines - May have underlying linear fracture; resolve in 2 weeks to 3 months; may calcify; jaundice
Pathogenesis of Refeeding Syndrome Starvation: catabolic state ê Insulin é Glucagon é Cortisol ê Ketone Body use in Muscle é Ketone Bodies use in the Brain é Glycogenolysis é Lipolysis é Protein Catabolism Depletion of fat, protein, vitamins, minerals, and intracellular electrolytes Start Re-feeding: Anabolic State éInsulin é Glycogen Synthesis é Protein Synthesis é Intracellular uptake of phosphorus, potassium, magnesium, thiamine ê Serum phosphorus, potassium, magnesium ê Serum thiamine é Sodium and water retention Clinical Manifestations: - Arrhythmias - CHF (Pulmonary edema, peripheral edema - Seizures - Wernicke’s Encephalopathy Recommendations for lung cancer screening Recommended Test - Low dose chest CT Recommended interval - Yearly Age for Screening - 55-80 Eligibility for screening based
on smoking history - - Patient has >30 pack-year smoking history AND
- Patient is a current smoker or quit smoking with the last 15 years When to stop screening - Age >80 - OR - Patient successfully quit smoking for >15 years - OR - Patient has other medical problems that significant limitlife expectance or ability/willingness to undergo lung cancer surgery Shoulder Dislocation Anterior Shoulder Dislocations Posterior Shoulder Dislocation
Arm Position - External rotation and slight abduction - Internal rotation and adduction - Unable to externally rotate Neurovascular
compromise - Axillary artery & nerve at risk - Unusual Classic Scenario - Blow to abducted, externally rotated extended
arm (blocking a basketball shot) - - Blow to anterior shoulder Seizure and electrocution Physical Exam - Prominent acromion (if thin patient hand loss of
shoulder roundness) - Posterior prominence and anterior shoulder is flat
MSK Injuries
Fall on outstretched arm à snuffbox tenderness - AVN (scaphoid) Anterior shoulder dislocation - Axillary nerve injury Fracture of the 5th metacarpal neck - Abscess from bite wound
Humerus Fracture - Radial nerve injury Hip Fracture - DVT - Avascular necrosis Femur fracture - Severe blood loss - Fat embolus Tibial fracture - Compartment Syndrome Pelvic Fracture - Hypovolemic Shock Screening tests for patients at average risk*
Disease Age Test & Interval
Breast Cancer Women 50—75 - Mammogram every 2 years
Cervical Cancer Women 21-65 - Pap smear every 2 years
Colon Cancer 50-75 - FOBT yearly or colonoscopy every 10 years
HIV 15-65 - HIV Antivody screen 1 time
Hyperlipidemia Men 35+ - Lipid panel every 5 years
Hypertension 18+ - Blood pressure measurement every 2 years
Osteoporosis Women 65+ -
- *Optimum screening test & intervals may vary for patients at increased risk or for those with abnormal or near abnormal results
Dyslipidemias Protein Defect Elevated Lipoproteins Major
Manifestations Familial
hyperchylomicronemia (Type 1)
LPL
APO C2 Chylomicrons Acute Pancreatitis Lipemia retinalis Eruptive skin xanthomas Hepatosplenmegaly Familial hypercholesterolemia (Type 2a) LDL Receptor Apo B100 LDL Premature coronary artery disease Corneal arcus Tendon xanthomas Xanthelasmas Familial dysbetalipoteinemia (Type 3)
Apo E Chylomicron and VLDL remnant Premature coronary artery disease & Peripheral vascular disease Tuboeruptive palmar xanthomas Familial hypertriglyceridemia (Type 4)
Apo A-V VLDL Increased pancreatitis
risk
Associated with obesity and insulin resistance
Minimal Change Disease Epidemiology - MCC of nephrotic syndrome in children - Median age 2-3; 85% of cases occur before 10 years of age Pathogenesis - T-Cell mediated injury to podocytes causes increased molecular permeability to albumin - Majority of cases are idiopathic Clinical Features - Edema - Fatigue - No hematuria Diagnosis - Proteinuria - Hypoalbuminemia - Renal biopsy without microscopic changes Treatment - Corticosteroids Henoch-Schonlein purpura Pathogenesis - IgA-mediated leukocytoclasic vasculitis - Boys, fall and winter months, may present with testicular pain*** Clinical
manifestation - - Palpable purpura (MC symmetrically over lower legs, buttocks, and arms) Arthritis/arthralgia (Knees and ankles) - Colicky Abdominal pain/ intussusceptions
- Renal disease similar to Ig-A nephropathy Laboratory
Findings - - Normal platelet count & coagulation studies Normal to Increased Creatinine - Hematuria +/- RBC Casts +/= proteinuria Diagnosis - Renal biopsy will demonstrate deposition of IgA in the mesangium Treatment - Supportive (hydration & NSAIDS) for most patients - Hospitalization & systemic glucocorticoids in patients with severe symptoms Potter Sequence ↓ Urinary Tract Anomaly Anuria/oliguria in utero Oligohydramnios (AFI < 5cm) ↓
Pulmonary hypoplasia Flat Facies Limb deformities (club feet)
Prenatal ultrasound: Bladder distension, bilateral hydroureters, and bilateral hydronephrosis à high suggestive of Posterior Urethral Valves (MC cause of Urinary tract obstruction in newborn boys) Strabismus (Ocular misalignment) Abnormal findings - Constant strabismus at any age - Eye deviation after 4 months of age - Asymmetric corneal light reflexes - Asymmetric intensity of red reflexes Deviation on cover test - Torticollis or head tilt Treatment options - Personalization therapy: Cycloplegic drops to blur normal eye - Occlusion therapy: Patch normal eye - Prescription eyeglasses - Surgery Complications - Amblyopia - Diplopia
Wilms Tumor (Nephroblastoma) à Abdominal Ultrasonography à, Contrast enhanced CT of abdomen (ID Pulm Mets) Epidemiology - Most common renal malignancy in childhood - Fourth most common childhood cancer - Peak age 3-5 years - Usually sporadic Associated syndromes: - WAGR (Wilm’s Tumor, Aniridia, Genitourinary anomalies, intellectual disability [mental Retardation]) - Beckwith-Wiedmann Syndrome - Denys-Drash syndrome Clinical Presentation - Asymptomatic, firm, smooth, abdominal mass that does not cross midline** Treatment - Tumor excision or nephrectomy - Chemotherapy - +/- Radiation therapy Prognosis - 5-year survival rate with treatment: 90% Gonococcal Conjunctivitis (Opthhalmia Neonatorum) Clinical Presentation - Copious exudates and eyelid swelling typically age 2-5 days Diagnosis - Gram stain with Gram-negative intracellular diplococci - Positive culture on modified Thayer-Martin media Prophylaxis - Application of topical erythromycin with 1 hour of birth Treatment - Hospitalization - One dose of ceftriaxone or cefotaxime - Best way to prevent both C trachomatis and gonococcal conjunctivitis is to screen, diagnose, and treat these infection in pregnant women Causes of Secondary Enuresis Etiology Associated Symptoms Psychological stress - Behavior regression, mood lability Urinary tract infection - Dysuria, hesitancy, urgency, abdominal pain Diabetes mellitus - Polyuria, polydipsia, polyphagia, weight loss, lethargy, candidiasis Diabetes insipidus - Polyuria, polydipsia Obstructive Sleep Apnea - Snoring, dry mouth, fatigue, hyperactivity Humoral Immunodeficiency Syndromes
Condition B Cell count IgG IgA IgM IgE
CD40L Deficiency
(hyper-igM Syndrome) Normal ↓ ↓ ↑ ↓
CVIS Normal ↓ ↓ ↓ ↓
Job Syndrome (Hyper IgE Syndrome)
Normal Normal Normal Normal ↑
Selective IgA Deficiency Normal Normal ↓ Normal Normal
X-Linked
Agammaglobulinemia ↓ ↓ ↓ ↓ ↓
Indication for renal and bladder ultrasound - Infants and children age < 24 months with a first febrile UTI: Fever, dysuria, and suprapubic/flank pain are suggestive of renal involvement. Pyuria (>5 WBCs/hpf) and bacteriuria (50,000 colony-forming units/mL) à undergo anatomic abnormalities - Recurrent UTIs in children of any age - UTI in a child of any age with a family history of renal or urologic disease, hypertension, or poor growth - Children who do not respond to appropriate antibiotics treatment Acute lymphoblastic leukemia Epidemiology - MC childhood cancer - Peak age: 2-5 years - Make > female Clinical Features - Nonspecific systemic symptoms - Bone pain - Lymphadenopathy - Hepatosplenomegaly - Pallor (from anemia) - Petechiae (from thrombocytopenia) Diagnosis - BM Biopsy with > 25% lymphoblast Treatment - Multi-drug chemotherapy Vesicoureteral Reflux Grade Description I - Into a non-dilated ureter II - Into the pelvis & calyces without dilation III - Mild to moderate dilation of ureter, renal pelvis & calyces, with minimal blunting IV - Moderate ureteral tortuosity & dilation of the pelvis & calyces V - Gross dilation of the ureter, pelvis & calyces; loss of papillary impression; ureteral tortuosity - VUR – retrograde flow of urine from the bladder up into the ureter and renal pelvis. VUR MC pediatric urologic problem. It is a risk factor for recurrent UTIs, which in turn place a patient at significant risk for renal scarring. The growing kidney is particularly prone to scarring renal insufficiency, and end-stage renal disease. - Gold standard modality of diagnosing VUR is a voiding cystourethrogram. - Renal and Bladder ultrasound to evaluate for anatomic abnormalities that might predispose to VUR. Constipation in Children à Oral laxative therapy Risk Factors - Initiation of solid food & cow’s milk (transition from breast milk) - Toilet training - School entry Clinical Presentation - Recurrent cystitis*** - Straining with passage of hard stools - Crampy abdominal pain - < or equal to 2 defecation/week Complications - Anal fissures - Hemorrhoids - Encoporesis - Enuresis/UTI - Vomiting Treatment - Increase dietary fiber - Limit cow’s milk intake to < 24 oz - Laxative - +/- Suppositories, enema
Epiglottitis Microbiology - Haemophilus influenza type b Clinical Features - Distress (“tripod position,” stridor) à hyperextended neck - Dysphagia - Drooling - “Thumbprint sign” (enlarged epiglottis) on x-ray Management - Endotracheal intubation* - Antibiotics Staphylococcal scalded skin syndrome (SSSS) - Caused Exfoliative toxin-producing strains of S. aureus - Toxins target Desmoglein 1 (keratinocyte adhesion in superficial epidermis) - Prodrome: fever, irritability, and skin tenderness. - Erythema starts on face, and generalizes with 24-48 hours - Superficial flaccid blisters soon develop - Flexural accentuation and perioral crusting - Positive Nikolsky sign à fragile and when removed leave a moist erythematous base - Scaling and desquamation continues for about 5 days, all resolves in 1-2 weeks - Cultures from intact bullae are sterile because this a toxin-mediated process - Eliminate any inciting focus of infection Anti-Staphylococcal antibiotics, provide supportive wound care of all denuded areas - Occurs in children (Adults with renal disease and immunocompromised) Clinical manifestations of foreign body aspiration à Immediate bronchoscopy Signs and
Symptoms - - History of choking (80-90% of cases) Coughing - Sudden-onset respiratory illness - Altered mental status Physical exam findings - Focal monophasic wheezing on affected side - Diminished aeration on affected side - Generalized wheezing - Inspiratory stridor - Hoarseness - Respiratory distress Radiographic
findings - - Hyperinflation or atelectasis of affected side of foreign body Visualization Anemia of Prematurity Etiology - Impaired erythropoietin production - Short red blood cell life span - Iatrogenic blood sampling Clinical Manifestations - Usually asymptomatic - Tachycardia, apnea, poor weight gain Laboratory Findings - Low hemoglobin & hematocrit - Low reticulocyte count - Normocytic, normochromic RBCs Treatment - Minimize blood draws - Iron Supplementation - Transfusion
25 HIV in infancy Risk factors - High maternal viral load - Breastfeeding by infected mother Clinical features - FTT - Chronic diarrhea - Lymphadenopathy - Pneumocystis pneumonia Diagnosis - SNA polymerase chain reaction testing - Persistence of HIV antibody after age 18 months Treatment - Immediate combination antiretroviral therapy Infectious complications of atopic dermatitis
Diagnosis Pathogen Presentation
Impetigo - Staphylococcus aureus
- Streptococcus pyogenes - Painful, non-pruritic pustules with honey-crusted adherent coating
Eczema herpeticum - HSV-1 - Painful vesicular rash with “punched out”
erosions & hemorrhagic crusting Molluscum
contagiosum - Poxvirus - Flesh-colored papules with central umbilication
Tinea corporis - Trichophyton rubrum - Pruritic circular patch with central clearing & raised, scaly border Bullous Impetigo – Exfoliatoxin producing Staph Aureus Intraosseus cannulation – proximal tibia
HEMATOLOGY AND ONCOLOGY
HEMATOLOGY AND ONCOLOGY—PHYSIOLOGY
SECTION III
383
Hemoglobin electrophoresis
Cathode Anode
AA↑ Normal adult AF↑ Normal newborn AS↑ Sickle cell trait SS↑ Sickle cell disease AC↑ Hb C trait CC↑ Hb C disease SC
C
A: normal hemoglobin β chain (HbA, adult) F: normal hemoglobin γ chain (HbF, fetal) S: sickle cell hemoglobin β chain (HbS) C: hemoglobin C β chain (HbC)
S F A
Hb SC disease
↑
Origin On a gel, hemoglobin migrates from the
negatively charged cathode to the positively charged anode. HbA migrates the farthest, followed by HbS, followed by HbC. This is because the missense mutations in HbS and HbC replace glutamic acid ⊝ with valine (neutral) and lysine ⊕, respectively, impacting the net protein charge.
A Fat Santa Claus
Coagulation and kinin pathways
Note: Kallikrein activates bradykinin; ACE inactivates bradykinin
* = require Ca2+ , phospholipid
= inhibited by vitamin K antagonist warfarin = cofactor
= activates but not part of coagulation cascade Collagen, basement membrane, activated platelets Tissue factor (extrinsic) pathway Combined pathway Fibrinolytic system ANTICOAGULANTS: factor Xa - LMWH (greatest efficacy) - heparin
- direct Xa inhibitors (apixaban, rivaroxaban) - fondaparinux
ANTICOAGULANTS: IIa (thrombin) - heparin (greatest efficacy) - LMWH (dalteparin, enoxaparin) - direct thrombin inhibitors (argatroban, bivalirudin, dabigatran) Tissue factor VII VIIa XII Prothrombin Kallikrein Bradykinin ↑ Vasodilation ↑ Permeability ↑ Pain Kinin cascade HMWK Thrombin Plasminogen Plasmin THROMBOLYTICS: alteplase, reteplase, streptokinase, tenecteplase Fibrin degradation products Hemophilia A: deficiency of factor VIII (XR)
Hemophilia B: deficiency of factor IX (XR) Hemophilia C: deficiency of factor XI (AR)
Aminocaproic acid tPA XI XIa IX X II IXa
VIIIa with vWF)VIII XIIa Xa Va * * IIa I Fibrinogen
Fibrin mesh stabilizes platelet plug Aggregation Fibrin monomersIa Ca2+ XIIIa XIII V Contact activation (intrinsic) pathway – – – * *
Wiskott-Aldrich Syndrome Etiology - X-linked recessive gene defect in WAS protein gene - Impaired cytoskeleton changes in leukocytes, platelets Clinical
Features - - Eczema Microthrombocytopenia (small platelets, low platelet count) - Recurrent infection Treatment - Stem cell transplant Bleeding Disorders
Type Symptoms Examples Laboratory Results
Clotting Defect - Hemarthrosis - Deep tissue hematomas - Hemophilia A - Hemophilia B - ↑aPTT Platelet aggregation defect - Easy or prolonged mucosal bleeding - Ecchymoses - Petechiae - vW Disease - Bernard-Soulier Syndrome - Abnormal platelet function testing Thrombocytopenia - ITP
- Leukemia - ↓Platelet count
Neonatal polycythemia Definition - HCT > 65% in term infants Causes - Increased erythropoiesis from intrauterine hypoxia - Maternal diabetes - Maternal HTN - Smoking - IUGR - Erythrocyte transfusion - Delayed cord clamping - Twin-twin transfusion Clinical presentation - Ruddy skin - Hypoglycemia - Respiratory distress - Cyanosis - Apnea, irritability, jitteriness - Abdominal distension Treatment - Partial exchange transfusion (remove blood, infuse normal saline) Acquired Aplastic Anemia Clinical Manifestations of Fancon’s Anemia Drugs (NSAIDS,
Sulfonamides) Bone Marrow - Aplastic anemia, and progressive BM failure
Benzene, glue Appearance - Short Stature, microcephaly, abnormal thumbs, and hypogonadism Idiopathic Skin - Hypopigmented/hyperpigmented areas, cause au lait spots, and
large freckles
Viral (HIV, EBV) Eyes/Ears - Strabismus, low set ears, and middle ear abnormalities (eg,
hemorrhage, incomplete development, chronic infection, deafness) Immune Disorders
Thymoma
Signs of Deliberate Scald Injury - Intentional immersion - Linear demarcation with no splash marks - Extensive burns to back and buttocks - Doughnut pattern - Sparing of flexural creases (“zebra” pattern) Coarctation of the Aorta Pathology - Thickening of tunica media of aortic arch near the ductus arteriosus Clinical Features - Hypertension in UE - ↓Perfusion to LE • ↓Post-ductal oxygen saturation • ↓Femoral Pulses - Lower-extremity claudication - Heart failure (irritability, poor feeding, diaphoresis); cardiogenic shock (infants) - Palpable pulsations of intercostal vessels (adults) Treatment - Surgical Repair Pertussis treatment & post-exposure prophylaxis for all close contact Age< 1 month - Azithromycin x 5 days Age > 1 month - Azithromycin x 5 days - OR - Clarithromycin x 7 days - OR - Erythromycin x 14 day Prepubertal vaginal bleeding Cause Fey Features Withdrawal of estrogen - Presents in neonatal period - Lasts < 1 week - Examination otherwise normal Trauma - Usually unintentional from fall - Can be sign of sexual abuse - Genital examination may show laceration/abrasion Malignancy (eg,
rhabdomyosarcoma) - - Rare Presents age <3
- May visualize protruding vaginal nodules Causes of neonatal bacterial sepsis & association GBS and E.coli - MCC of early- & late-onset sepsis Staph Aureus - Associated with skin, bone, or joint infections Listeria monocytogenes - Causes early-onset sepsis during outbreak of listerosis Enterococcus - Causes sepsis in preterm infants Coagulase-negative staphylococcus - Affects infants with indwelling intravascular catheters Other Gram-negative bacteria
(eg, Klebsiella, Enterobacter, Psudomonas aeurginosa) - Causes late onset sepsis especially in infants in intensive care units
Focal seizure Definition - Originates from 1 cerebral hemisphere - +/- LOC Types - Motor: Jacksonian march, turning of eyes/head/trunk - Sensory: Paresthesia, vertigo, visual phenomena - Autonomic: Sweating, epigastric “rising” sensation - Psychic: “Deja vu” affective changes (eg, fear) Absence Seizures Clinical Features - Sudden impairment of consciousness (“staring spells”) - Preserved muscle tone - Unresponsive to tactile/verbal stimulation - Short duration (<20 seconds) - Simple automatisms frequently present - Easily provoked by hyperventilation Diagnosis - EEG: 3-Hz spike-wave discharges during episodes Comorbidities - ADHD - Anxiety Treatment - Ethosuximide Strep Throat Clinical Features: Sore throat, dysphagia, odynophagia, pharyngeal/tonsillar erythema (small anterior cervical lymph nodes are palpated) Presence of viral symptoms: (eg, cough, rhinorrhea, conjunctivitis, oral ulcers) Presence of exudates, edema, palatal petechiae, absence of viral symptoms ↓ ↓ ↓ ↓ Rapid antigen test ↓ Negative ↓ ↓ ↓ Positive ↓ Throat Culture ↓ ↓ ↓ ↓ Viral Pharyngitis ←←←Negative Streptococcal Pharyngitis ↓ ↓ Symptomatic treatment only Oral penicillin OR amoxicillin Rapid streptococcal antigen testing (RSAT) or throat culture. Although RSAT is quick, widely available and highly specific, it has limited sensitivity (70%-90%). Therefore, although positive RSAT testing is sufficient for diagnosis, all negative RSAT results in children must be confirmed will follow-up throat culture. Throat culture is the gold standard due to its high sensitivity (90%-95%). Penicillin and amoxicillin are the antibiotics of choice for GAS pharyngitis as they hasten recovery, prevent transmission, and reduce the risk of rheumatic fever. Adults who meet all Centor Criteria can receive empiric antibiotic treatment without testing. However, Centor criteria are not reliable in preadolescents.
Evaluation & Management of Pharyngitis Centor Criteria: - Fever by history - Tender anterior cervical lymphadenopathy - Tonsillar exudates - Absence of cough
0-1 Present 2-3 Present 4 Present
↓ ↓ ↓
O testing/treatment for streptococcal
infection Rapid Streptococcal antigen test Empiric or oral penicillin or amoxicillin or RAST
↓ Oral Penicillin or Amoxicillin for positive results Differential features of Hirschprung disease and meconium ileus Hirschprung disease Mecnoium Ileus (CF)
Associated Disorder Down Syndrome Cystic Fibrosis
Typical level of Obstruction Rectosigmoidal Ileum
Meconium Consistency Normal Insipissated
“Squirt Sign” Positive Negative
- Nearly all patients with CF develop chronic rhinosinusitis Traumatic Carotid Injuries Mechanism - Penetrating trauma (tearing of tunica intima) - Fall with object in mouth (eg, toothbrush, pencil) - Neck strain/manipulation (eg, yoga/sports) Presentation - Gradual onset hemiplegia - Aphasia - Neck=pain - “Thunderclap headache-” Diagnosis - CT or MR angiogram Tinea Capitis – Dermatophyte MC in US is Black Dot TC (BDTC) - Clinical Features - Due to Tricophyton tonsurans - Scaly erythematous patch on scalp - Hair loss with residual black dot - Possible lymphadenopathy (occipital or postauricular) - Human-human or fomite (eg, shared combs) transmission Diagnosis and
Treatment - - KOH examination oh fair shaft to confirm diagnosis Treatment: Oral Terbinafine, Griseofulvin, Itraconazole or Fluconazole
Niemann-Pick Disease versus Tay-Sachs disease
Diagnosis Niemann-Pick disease Tay-Sachs disease
Pathology Sphingomyelinase deficiency β-hexominidase A deficiency
Epidemiology - AR inheritance - Ashkenazi Jewish heritage Onset - Age 2-6 months Clinical Features - Loss of motor milestones - Hypotonia - Feeding Difficulties - Cherry Red Macula - Hepatosplenomegaly - Areflexia - Loss of motor milestones - Hypotonia - Feeding difficulties - “Cherry-red macula” - Hyperreflexia
Hypersensitivity Reaction
Immunology Examples
Type 1
(Immediate) - IgE-Mediated - - Anaphylaxis Uticaria Type 2 (Cytotoxic) - IgG & IgM autoantibody-mediated - AIHA - Goodpastures Disease Type 3 (Immune Complex) - Antibody-antigen complex
deposition - - Serum Sickness Post streptococcal nephritis - Lupus nephritis Type 4 (Delayed Type) - T cell- & Macrophage mediated - Contact dermatitis - Tuberculin skin test X-Linked Agammaglobulinemia Clinical Manifestations - Recurrent sinopulmonary & GI infections after age 6 months - Absence of lymphoid tissue on examination (eg, tonsils, lymph nodes) Diagnosis - Immunoglobulin & B-Cells - Normal T cell concentration - No response to vaccinations, absence of IgA leads to Giardiasis Treatment - Immunoglobulin replacement therapy - Prophylactic antibiotics if severe Severe Combined Immunodeficiency Question: CD3+ = T-cell, CD19+ = B-Cell Etiology - Gene defect leading to failure of T-cell development - B-Cell dysfunction due to absent T-Cells (IL-12 à Th1) Inheritance - X-linked Recessive - Autosomal Recessive Clinical Features - Recurrent, severe, viral, fungal, or opportunistic (ie, Pneumocystis) infections - Failure to thrive - Chronic diarrhea Treatment - Stem cell transplant (Performed as early as possible) Replacement of defective immature T cells with normal hematopoietic cells allows the development of a function immune system. SCID is usually fatal in early childhood unless transplantation is performed. Atopic Dermatitis (Eczema) Risk Factors - Low humidity - Relatives with eczema, allergies, or asthma Clinical Features - Infant: Itchy, red, scaly, crusted lesions on extensor surfaces, trunk, cheeks, & scalp - Child/adult: Lichenified plaques in flexural in flexural creased Treatment - Topical emollients +/- steroid involvement Complication - Eczema herpeticum - Cellulitis/abscess - Discomfort interfering with daily activities & sleep Selective IgA Deficiency Epidemiology - MC Primary immune deficiency Clinical
Features - - Usually asymptomatic Recurrent sinopulmonary & GI infections
- Associated with autoimmune disease (eg, celiac) & atopy (eg, asthma, eczema) - Anaphylaxis during drug transfusion
Diagnosis - Low or absent IgA
- Normal IgG, IgM levels, B-cell Treatment - Supportive care
Angioedema Pathology - The pathology in both forms can involve Cq inhibitor deficiency, dysfunction, or destruction. A defect of C1 inhibitor leads to elevated levels of the edema-producing factors C2b and bradykinin Clinical
Presentation - - Non-inflammatory edema of the the face limbs, and genitalia Laryngeal edema can be kife0threeatening - Edema of the intestines resulting in colicky abdominal pain
C4 levels are depressed in all forms of angioedema Hereditary Acquired - C1 inhibitor deficiency presents in late childhood. Episodes usually follow an infection, dental procedure, or trauma. C1q levels are normal in hereditary angioedema and depressed in acquired forms, which usually present much later in life. - Angiotensin-converting enzyme inhibitor use à elevated levels of bradykinin Sunburn Prevention - Remain indoors between 10AM 4PM - Wear protective clothing - à Hats, pants, long sleeved shirts - àTightly woven, thick, or dark-colored fabrics - Avoid tanning bed - Apply sunscreen SPF 15-30 or higher 30 minutes before sun exposure - Patients should be informed that cloud coverage does not block UV rays and that UV rays can reflected off water, sand, snow, and concrete. Treatment Mild to moderate: - Topical: Cool compresses, calamine lotion, aloe cera - Oral: NSAID’s Severe sunburn: Hospitalization - IV fluids - Wound care Complications Cancer - Melanoma - Basal cell carcinoma - Squamous cell carcinoma Photoaging Tinea versicolor (Pityriasis versicolor) Pathogenesis - Malassezia globose sin flora grows in exposure to hot and humid weather Clinical Features - Hypopigmented, hyperpigmented, or mildly erythematous lesions (face in children, trunk & upper extremities in adolescents & adults) - +/- Fine scale - +/- Pruritus Diagnosis - KOH preparation shows hyphae & yeast cells in a “spaghetti & meatballs” pattern Treatment - Topical ketoconazole, terbinafine, or selenium sulfide
Celiac Disease Risk Factors - 1st degree relative with celiac disease - Autoimmune thyroiditis - Type 1 DM - Down Syndrome - Selective IgA Deficiency Symptoms Gastrointestinal - Abdominal pain - Nausea &/ vomiting - Diarrhea (rarely, constipation) - Flatulence and Bloating Extraintestinal - Shirt stature - Iron Deficiency Anemia - Dermatitis Herpetiformis Diagnosis - ↑Tissue transglutaminase IgA - ↑Anti-endomysial antibodies - Duodenal biopsy showing intraepithelial lymphocytes & flattened villi Reye Syndrome Pathophysiology - Microvesicular fatty infiltration & hepatic mitochondrial dysfunction - Aspirin metabolites ↓ β- oxidation by reversible inhibition of mitochondrial enzyme Cause - Pediatric aspirin use in the setting of influenza B or varicella infection Complication - Acute liver failure - Encephalopathy Labs - ↑Transaminases - ↑PT, INR, PTT - ↑Ammonia à Cerebral Edema Clinical Manifestation of Neonatal Sepsis (including meningitis) Present in
> 50% of cases - Temperature instability (fever >38 [100.4] or hypothermia <36 C [96.8F]) - Poor feeding
- Irritability or lethargy Present in
25-50% of case - - Respiratory distress Vomiting - Seizures
- Jaundice Present in
<25% of cases - - Apnea Cyanosis
- Bulging Fontanelle - Management: Bacterial cultures and Antibiotics
Osteomyelitis in Children Age/condition Most Common Organisms < 2 months - GBS - E. Coli 2 months- 4 months - Kingella kingae > 4 years - Staphylococcus aureus Sickle cell disease - Samonella spp. - Staphylococcus aureus Enterobious vermicularis (pinworm) Symptoms - Perianal pruritus, especially at night Diagnosis - Eggs on tape test - Albendazole OR pyrantel pamoate for patient & all household contacts Human rabies Pathogenesis - Transmission of rabies virus by bite from infected mammal Reservoirs - United states: Bats (most common), raccoons, skunks, foxes - Developing world: Dogs Clinical
Features Encephalic - - Hydrophobia Aerophobia
- Pharyngeal spasm, spastic paralysis - Agitation
Paralytic - Ascending flaccid paralysis Post-exposure
prophylaxis - Rabies Immune globulin & rabies vaccine immediately after exposure to high-risk wild animals Prognosis - Coma, respiratory failure, & death within weeks
Malaria Pathogenesis - Transmission of Plasmodium falciparum, P. Vivax, P. ovale or P malariae parasites by the bite of an infected Anopheles mosquto Clinical Features Fever and splenomegaly - Plasmodium vivax – MC cause of malaria worldwide (Simple tertian fever, q48 hours) - à Duffy (Fy antigen on RBC’s is the binding site for the parasite (Fy antigen often absent in blacks, which provides a modicum of protection) - Plasmodium falciparum (malignant tertian malaria) - à Most lethal type of malaria - à Quotidian (malignant tertian) fever pattern (dally spike with no pattern) - Plasmodium malariae - à Association with nephrotic syndrome - Simple quartan fever pattern (q72 hours) Nonspecific malaise, headache, nausea, vomiting, abdominal pain, diarrhea, myalgia, pallor, jaundice, petechiae, hepatosplenomegaly Complications - Children: Seizure, coma, hypoglycemia, metabolic acidosis - Adults: Jaundice, acute renal failure, acute pulmonary edema Diagnosis - Think & thick peripheral blood spears Protection - Hemoglobinopathies (Hb S, Hb C, Thalassemia) - Partial immunity from previous malarial illness Prevention Antimalarial Drugs - Atovaquone - proguanil - Doxycycline - Mefloquin - Chloroquine - Hydroxychloroquine Insecticide-treated nets Household insecticide residual spraying Diagnostic features of acute bacterial rhinosinusitis - Persistent symptoms >10 days without improvement - OR - Severe symptoms, fever > 39 (102F), purulent nasal discharge, or face pain >3 days - OR - Worsening symptoms > days after initially improving viral URI. S. Pneumoniae, Haemophilus influenza, and Moraxella catarrhalis are the most commonly implicated organisms. Bacterial meningitis in children age > 1 month Clinical Features - Fever - Continuing/poor feeding - Seizures - Altered mental status (lethargy, irritability) - Nuchal rigidity, Kerning & Brudzinski sign - Bulging anterior fontanelle Workup - CBC & electrolytes - Blood cultures - LP & CSF studies Indication for imaging prior to LP - History of hydrocephalus or neurosurgical procedure - History of head trauma - Coma or focal neurologic findings Treatment - Intravenous vancomycin & Ceftriaxone OR Cefotazime - Dexamethasone for Haemophilus influenza type b meningitis Answer: LP followed by antibiotics