UWORLD Pediatrics

Differential diagnosis of stridor in infants & children Distinguishing Features Most common from age 6 months to 6 years Associated with “barky” cough, fever, rhinorrhea & congestion Stridor most severe at age 4-8 months Persistent stridor that worsens in supine position & improves in prone position Stridor caused by laryngotracheal foreign bodies has acute onset Associated with moderate-to-severe respiratory distress Presents before age 1 year Persistent stridor that improves with neck extension Associated with cardiac abnormalities (50%)

Diagnosis Croup (Laryngotracheobronchitis) Laryngomalacia Foreign body aspiration Vascular Ring

Croup (laryngotracheitis) Parainfluenza viral infection – inflammation of larynx & trachea Age 6 months to 3 years Fall, early winter Inspiratory stridor “Barky” seal-like cough Hoarse voice Mild (no stridor at rest: corticosteroids) Moderate/severe (stridor at rest): corticosteroids + nebulized epinephrine

Pathogenesis Epidemiology Clinical Features

Treatment

Diagnosis Laryngotracheitis (croup)

Key respiratory tract infection in children Classic pathogen Parainfluenza virus -

Epiglottitis

-

Haemophilus influenza

-

Bronchiolitis

-

Respiratory Syncytial Virus

-

Presentation Age 6 months to 3 years “Barky” coughing, stridor, hoarse voice Unvaccinated children Sore throat, dysphagia, drooling, “tripod position” Age 5 minutes Reassurance/education Normal development/intelligence ~30% Risk of Recurrence 40.5 (105F) within 2 days epilepsy, infantile spasms) Hypotonic hyporesponsive episode within 2 days Encephalopathy within a Inconsolable, persistent crying within 2 days week of previous vaccine does 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 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



Arm Position

-

Shoulder Dislocation Anterior Shoulder Dislocations External rotation and slight abduction

Neurovascular compromise Classic Scenario

-

Axillary artery & nerve at risk

-

Physical Exam

-

Blow to abducted, externally rotated extended arm (blocking a basketball shot) Prominent acromion (if thin patient hand loss of shoulder roundness)





-

Posterior Shoulder Dislocation Internal rotation and adduction Unable to externally rotate Unusual Blow to anterior shoulder Seizure and electrocution Posterior prominence and anterior shoulder is flat

19

MSK Injuries Fall on outstretched arm à snuffbox tenderness Anterior shoulder dislocation th

Fracture of the 5 metacarpal neck Humerus Fracture Hip Fracture Femur fracture Tibial fracture Pelvic Fracture

-

AVN (scaphoid) Axillary nerve injury

-

Abscess from bite wound Radial nerve injury DVT Avascular necrosis Severe blood loss Fat embolus Compartment Syndrome Hypovolemic Shock

Screening tests for patients at average risk* Age

Disease Breast Cancer Cervical Cancer

Women 50—75 Women 21-65

-

Test & Interval

Mammogram every 2 years 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

Familial hyperchylomicronemia (Type 1)

LPL APO C2

Familial hypercholesterolemia (Type 2a)

LDL Receptor Apo B100

Familial dysbetalipoteinemia (Type 3)

Apo E

Familial hypertriglyceridemia (Type 4)

Apo A-V

Elevated Lipoproteins

Major Manifestations Chylomicrons Acute Pancreatitis Lipemia retinalis Eruptive skin xanthomas Hepatosplenmegaly LDL Premature coronary artery disease Corneal arcus Tendon xanthomas Xanthelasmas Chylomicron and VLDL Premature coronary remnant artery disease & Peripheral vascular disease Tuboeruptive palmar xanthomas VLDL Increased pancreatitis risk Associated with obesity and insulin resistance



20

Epidemiology

-

Pathogenesis Clinical Features

Diagnosis

Treatment

Minimal Change Disease MCC of nephrotic syndrome in children Median age 2-3; 85% of cases occur before 10 years of age T-Cell mediated injury to podocytes causes increased molecular permeability to albumin Majority of cases are idiopathic Edema Fatigue No hematuria Proteinuria Hypoalbuminemia Renal biopsy without microscopic changes Corticosteroids

Pathogenesis Clinical manifestation

Laboratory Findings Diagnosis Treatment

Henoch-Schonlein purpura IgA-mediated leukocytoclasic vasculitis Boys, fall and winter months, may present with testicular pain*** 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 Normal platelet count & coagulation studies Normal to Increased Creatinine Hematuria +/- RBC Casts +/= proteinuria Renal biopsy will demonstrate deposition of IgA in the mesangium 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) Abnormal findings

Treatment options

Complications

-

Strabismus (Ocular misalignment) 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 Personalization therapy: Cycloplegic drops to blur normal eye Occlusion therapy: Patch normal eye Prescription eyeglasses Surgery Amblyopia Diplopia



21

Epidemiology

Clinical Presentation Treatment

Prognosis

Wilms Tumor (Nephroblastoma) à Abdominal Ultrasonography à, Contrast enhanced CT of abdomen (ID Pulm Mets) 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 Asymptomatic, firm, smooth, abdominal mass that does not cross midline** Tumor excision or nephrectomy Chemotherapy +/- Radiation therapy 5-year survival rate with treatment: 90%

Gonococcal Conjunctivitis (Opthhalmia Neonatorum) Copious exudates and eyelid swelling typically age 2-5 days 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

Clinical Presentation Diagnosis

Causes of Secondary Enuresis Associated Symptoms

Etiology Psychological stress Urinary tract infection Diabetes mellitus Diabetes insipidus Obstructive Sleep Apnea

-

Behavior regression, mood lability Dysuria, hesitancy, urgency, abdominal pain Polyuria, polydipsia, polyphagia, weight loss, lethargy, candidiasis Polyuria, polydipsia Snoring, dry mouth, fatigue, hyperactivity

Condition CD40L Deficiency (hyper-igM Syndrome) CVIS Job Syndrome (Hyper IgE Syndrome) Selective IgA Deficiency X-Linked Agammaglobulinemia



Humoral Immunodeficiency Syndromes B Cell count IgG IgA Normal ↓ ↓

IgM ↑

IgE ↓

Normal Normal

↓ Normal

↓ Normal

↓ Normal

↓ ↑

Normal ↓

Normal ↓

↓ ↓

Normal ↓

Normal ↓



22

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

-



Epidemiology

Clinical Features

Diagnosis Treatment

Acute lymphoblastic leukemia MC childhood cancer Peak age: 2-5 years Make > female Nonspecific systemic symptoms Bone pain Lymphadenopathy Hepatosplenomegaly Pallor (from anemia) Petechiae (from thrombocytopenia) BM Biopsy with > 25% lymphoblast Multi-drug chemotherapy

Grade I II

-

III

-

IV V -

-

Vesicoureteral Reflux Description Into a non-dilated ureter Into the pelvis & calyces without dilation

Mild to moderate dilation of ureter, renal pelvis & calyces, with minimal blunting Moderate ureteral tortuosity & dilation of the pelvis & calyces 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.

Risk Factors

Clinical Presentation

Complications

Treatment

Constipation in Children à Oral laxative therapy - Initiation of solid food & cow’s milk (transition from breast milk) - Toilet training - School entry - Recurrent cystitis*** - Straining with passage of hard stools - Crampy abdominal pain - < or equal to 2 defecation/week - Anal fissures - Hemorrhoids - Encoporesis - Enuresis/UTI - Vomiting - Increase dietary fiber - Limit cow’s milk intake to < 24 oz - Laxative - +/- Suppositories, enema



23

Microbiology Clinical Features

-

Management

Epiglottitis Haemophilus influenza type b Distress (“tripod position,” stridor) à hyperextended neck Dysphagia Drooling “Thumbprint sign” (enlarged epiglottis) on x-ray 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)

Signs and Symptoms

Physical exam findings

Radiographic findings

Clinical manifestations of foreign body aspiration à Immediate bronchoscopy History of choking (80-90% of cases) Coughing Sudden-onset respiratory illness Altered mental status Focal monophasic wheezing on affected side Diminished aeration on affected side Generalized wheezing Inspiratory stridor Hoarseness Respiratory distress Hyperinflation or atelectasis of affected side of foreign body Visualization

Etiology

Clinical Manifestations Laboratory Findings

Treatment



-

Anemia of Prematurity Impaired erythropoietin production Short red blood cell life span Iatrogenic blood sampling Usually asymptomatic Tachycardia, apnea, poor weight gain Low hemoglobin & hematocrit Low reticulocyte count Normocytic, normochromic RBCs Minimize blood draws Iron Supplementation Transfusion

24

Risk factors

HIV in infancy High maternal viral load Breastfeeding by infected mother FTT Chronic diarrhea Lymphadenopathy Pneumocystis pneumonia SNA polymerase chain reaction testing Persistence of HIV antibody after age 18 months Immediate combination antiretroviral therapy

-

Clinical features

Diagnosis Treatment Diagnosis Impetigo

Infectious complications of atopic dermatitis Pathogen Presentation Staphylococcus aureus Painful, non-pruritic pustules with honeyStreptococcus pyogenes crusted adherent coating HSV-1 Painful vesicular rash with “punched out” erosions & hemorrhagic crusting Poxvirus Flesh-colored papules with central umbilication Trichophyton rubrum Pruritic circular patch with central clearing & raised, scaly border

-

Eczema herpeticum Molluscum contagiosum Tinea corporis

-

HEMATOLOGY AND ONCOLOGY HEMATOLOGY Bullous Impetigo – Exfoliatoxin producing Staph Aureus Intraosseus cannulation – proximal tibia

AND ONCOLOGY—PHYSIOLOGY

SEC TION III

383

Hemoglobin electrophoresis Origin

Hb C trait

↑

AC

Sickle cell disease

↑

SS

Sickle cell trait

↑

AS

Normal newborn

↑

AF

Normal adult

↑

AA

Hb C disease

SC

Hb SC disease

↑

CC

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.

Cathode

S



A Anode

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)

Coagulation and kinin pathways Contact activation (intrinsic) pathway Tissue factor (extrinsic) pathway

F

VII

Tissue factor

*

ANTICOAGULANTS: factor Xa - LMWH (greatest efficacy)

↑

C

A Fat Santa Claus

Collagen, basement membrane, activated platelets

HMWK

Bradykinin XII

XIIa XI

Kinin cascade

IX

*

↑ Permeability ↑ Pain

XIa IXa

VIII with vWF)

* VIIIa VIIa

↑ Vasodilation

Kallikrein

X

Xa – II

*

Va

V IIa

–

ANTICOAGULANTS: IIa (thrombin) - heparin (greatest efficacy) - LMWH (dalteparin, enoxaparin) - direct thrombin inhibitors (argatroban, bivalirudin, dabigatran)

25

Etiology

Clinical Features

Treatment

Wiskott-Aldrich Syndrome X-linked recessive gene defect in WAS protein gene Impaired cytoskeleton changes in leukocytes, platelets Eczema Microthrombocytopenia (small platelets, low platelet count) Recurrent infection Stem cell transplant

Type Clotting Defect

Bleeding Disorders Symptoms Examples Hemarthrosis Hemophilia A Deep tissue Hemophilia B hematomas Easy or prolonged vW Disease mucosal bleeding Bernard-Soulier Syndrome Ecchymoses Petechiae ITP Leukemia

-

Platelet aggregation defect

-

Thrombocytopenia

Laboratory Results ↑aPTT -

-

Abnormal platelet function testing ↓Platelet count

Neonatal polycythemia Definition Causes

Clinical presentation

Treatment

-

HCT > 65% in term infants Increased erythropoiesis from intrauterine hypoxia Maternal diabetes Maternal HTN Smoking IUGR Erythrocyte transfusion Delayed cord clamping Twin-twin transfusion Ruddy skin Hypoglycemia Respiratory distress Cyanosis Apnea, irritability, jitteriness Abdominal distension Partial exchange transfusion (remove blood, infuse normal saline)

Acquired Aplastic Anemia Drugs (NSAIDS, Sulfonamides) Benzene, glue Idiopathic Viral (HIV, EBV) Immune Disorders

Clinical Manifestations of Fancon’s Anemia Bone Marrow

-

Aplastic anemia, and progressive BM failure

Appearance Skin

-

Eyes/Ears

-

Short Stature, microcephaly, abnormal thumbs, and hypogonadism Hypopigmented/hyperpigmented areas, cause au lait spots, and large freckles Strabismus, low set ears, and middle ear abnormalities (eg, hemorrhage, incomplete development, chronic infection, deafness)

Thymoma

26

-

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)

Pathology Clinical Features

Treatment

• • -

Coarctation of the Aorta Thickening of tunica media of aortic arch near the ductus arteriosus 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) Surgical Repair



Pertussis treatment & post-exposure prophylaxis for all close contact Age< 1 month Azithromycin x 5 days Azithromycin x 5 days OR Age > 1 month Clarithromycin x 7 days OR Erythromycin x 14 day



Cause Withdrawal of estrogen

Trauma

Malignancy (eg, rhabdomyosarcoma)

Prepubertal vaginal bleeding Fey Features Presents in neonatal period Lasts < 1 week Examination otherwise normal Usually unintentional from fall Can be sign of sexual abuse Genital examination may show laceration/abrasion Rare Presents age 50% of cases hypothermia 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 History of hydrocephalus or neurosurgical procedure imaging prior to LP 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

34

Acute Cervical Adenitis in Children Pathogen

Location Unilateral

Staphylococcoal aureus Streptococcus pyogenes Anaerobic bacteria (eg, Prevotella buccae) Bartonella Henslae Mycobacterium avium Adenovirus ABV/CMV

Bilateral

Additional Features

-

Pronounced erythema, tenderness

-

Dental caries, periodontal disease

-

Papular nodular at side of cat scratch or bite Gradual onset, non-tender Phayngoconjunctivitis Mononucleosis

Type Microbiology

Clinical Features

Treatment

-

Impetigo Non-Bullous Staphylococcus aureus Group A Streptococcus (S Pyogenes) Painless non-pruritic pustules Honey crusted lesions

Bullous -

S aureus

-

Rapidly enlarging flaccid bullae with yellow fluid Collarets of scale at periphery of lesion Limited Skin Involvement: Topical antibiotics (eg, mupirocin) Extensive skin involvement: Oral antibiotics (eg, cephalexin, dicloxacillin, clindamycin)

Epidemiology Clinical Features

Late Sequelae Prevention

Acute Rheumatic Fever Peak incidence: Age 5-15 Twice as common in girls Major Joints (migratory arthritis) (Carditis) Nodules (subcutaneous) Erythema marginatum Sydenham Chorea Minor Fever Arthralgias ↑ESR/CRP Prolonged PR Interval Mitral regurgitation/stenosis Penicillin for group A streptococcal (Streptococcus pyogenes) pharyngitis

Clinical Findings of congenital infection IUGR Hepatosplenomegaly Jaundice Blueberry muffin spots Cytomegalovirus Periventricular calcification Toxoplasmosis Diffused intracerebral calcification Severe choioretintis Syphilis Rhinorrhea Abnormally long-bone radiographs Desquamating or bullous rash Rubella Cataracts Heart defects (eg, PDA) All



35

Clinical triad

-

Diagnosis Prevention

Congenital Rubella Syndrome Cataracts or glaucoma Sensorineural hearing loss Congenital heart disease (eg, Patent ductus Arteriosus) Rubella IgM Polymerase chain reaction testing Maternal immunization with live attenuated rubella vaccine prior to conception

Non-Bullous Impetigo Staph aureus Group A beta hemolytic streptococcus (S Pyogenes) Painful non itchy pustules & honey crusted lesions Topical antibiotics (eg, mupirocin) Post-streptococcal glomerulonephritis

Microbiology

Clinical Features Treatment Complications

Cat-scratch Disease Bartonella henslae Papule at scratch/bite site Regional adenopathy +/- Fever pf Unknown Origin (FUO) Usually clinical +/- Serology Azithromycin

Etiology Clinical Manifestation Diagnosis Treatment

Cat bites Microbiology Management

-

Pasteuella Multocida Anaerobic infection Copious irrigation Prophylactic amoxicillin/clavulanate Tetanus booster as indication Avoid closure

Features of Septic Arthritis in Children Clinical Manifestation

Physical Examination

Laboratory Findings

Treatment

-

Acute onset off fever and pain Fatigue or malaise Refusal to bear weight due to pain Erythema of the overlying skin Warmth and swelling of the joint Pain with active and passive range of motion Elevated WBC Elevated ESR and CRP Synovial fluid > 50,000 cells/uL Birth to 3 months Organisms – Staphylococcus, GBS, & Gram – Bacilli Antibiotics – Anti staphylococcal agent (Nafcillin or Vancomycin), PLUS gentamicin or cefotaxime Older than 3 months



36

Features of Lymph Nodes Normal -

Soft Mobile 2 cm Systemic symptoms (eg, fever, night sweats, weight loss)

Antibiotic prophylaxis for Rheumatic Fever The preferred antibiotic for prophylaxis is intramuscular benzathine penicillin G every 4 weeks. Associated condition Duration of antibiotic therapy Rheumatic fever without carditis 5 years or until 21 years old (whichever is longer) Rheumatic fever with carditis nut no residual heart or 10 years or until 21 years old (whichever is longer) valvular disease by clinical or echocardiographic criteria Rheumatic fever with carditis & persistent heart or 10 years or until 40 years old (whichever is longer) valvular disease Causes of Congenital QT Prolongation Electrolyte Hypocalcemia Derangements Hypokalemia Hypomagnesmia Macrolide Antibiotics Fluoroquinolones Medication- Psychotropic medications: Antipsychotics, TCAs, SSRIs Induced Opioids: Methadone, Oxycodone Antiemetics: Ondansetron, Granisetron Anti-arrhythmics: Quinidine, Procainamide, Flecainide, Amiodarone, Sotalol Jerel-Lange-Nielsen syndrome (AR) Romano-Ward syndrome (Autosomal Dominant) Pathology: Lengthening of the QT Interval by a net reduction in outward repolarizing K+ current

Acquired

Inherited



Clinical Presentation

Physical Examination Chest X Ray Management

-

-

Tetralogy of Fallot Severe obstruction (eg, pulmonary atresia: Profound cyanosis & hypoxemia in the neonatal period Moderate obstruction: Hypercyanotic “Tet” spells in infancy Minimal Obstruction: Heart failure in childhood or adult hood Harsh, systolic ejection murmur at Left Upper Sternal Border Single S2 “Boot-shaped” heart Hypercyanotic “tet” spell: Knee-chest positioning (Increase systemic vascular resistance), Inhaled oxygen (to stimulate pulmonary vasodilation and systemic vasoconstriction) à These maneuvers stimulate right ventricular blood flow into the pulmonary artery instead of the aorta Surgery before age 6 months



37

Orthopedic Disorders HIP Legg-Calve’s Perthe Disease

-

Slipped Capital Femoral Epiphysis

-

KNEE Osgood-Schlatter Disease

-

Idiopathic avascular necrosis of the capital femoral epiphysis in immature, growing child, MC in males, bilateral sometimes after trauma Presentation: Mild intermittent pain in anterior thigh with painless limp with restriction fo motion Diagnosis: AP and Frog Leg latera x-ray shows compression, collapse, and deformity of the femoral head MC adolescent hip disorder Either obese or with delayed skeletal maturation or think with recent growth spurt, can occur with underlying endocrine disorder Clinical Presentation: Pre-slip stable: exam normal; mild limp external rotation Unstable slip: sudden onset extreme pain; cannot stand or walk complain of knee pain with decreased hip rotation Traction apophysitis of tibial tubercle (overuse injury Look for active adolescent (running, or jumping) Swelling tenderness; increased prominence of tibial tubercle Treatment: Rest, restriction of activities, knee immobilization

Congenital Heart Disease Cause L à R Shunting

R à L Shunting

-

Clinical Features Tachypnea Poor weight gain Sweating with feeds Cyanosis

Interrupted left ventricular output

-

Pallor or shock Severe acidosis

-

Examples VSD ASD Isolated patent ductus arteriosus Transposition of the Great Vessels TOF Tricuspid Atresia Anomalous Pulmonary venous return Truncus arteriosus

-

Coarctation of o Aorta Hypoplastic Left Heart Syndrome



Exam

-

Complete Atrioventricular Septal Defect Failure of endocardial cushions to merge – Neural Crest Loud S2 due to pulmonary hypertension Systolic ejection murmur from increased flow across the pulmonary valve from the left to right shunt across the ASD Holosystolic murmur of VSD that may be soft or absent if the defect is large





38





-

Major Cause of Sudden Cardiac Death Coronary Artery Disease Cardiomyopathy (eg, hypertrophic cardiomyopathy (AD, peaks during puberty, and exertion can precipitate acute LVOTO à VFib)) Arrhythmia (eg, long QT syndrome) Congenital heart defect

-

Trisomy 18 (Edward’s Syndrome) Prominent Occiput Micrognathia Low-set ears Heart defects: VSD (Holosystolic murmur, LLSB) Clenched hands with overlapping fingers Renal defects Limited hip abduction Rocker Bottom Feet

-





Diagnostic Criteria

Treatment Complications

Kawasaki Disease Fever >5 days plus plus >4 of the following findings: Bilateral non-exudative conjunctivitis Mucositis (injected or fissured lips, injected pharynx, or strawberry tongue) Cervical lymphadenopathy with at least one lymph node being >1.5 cm in diameter Erythematous polymorphous rash Extremity changes (edema & erythema) Aspirin plus IVIg Coronary artery aneurysms Myocardial infarction & ischemia





39









40







Evaluation of head trauma in children age 2-18 Clinical Scenario Recommendation Any of the following: Focal neurologic findings Skull fracture, especially sign of basilar skull fracture Head CT without contrast Seizure Persistent altered mental status (eg, agitation, lethargy, slow response) Prolonged LOC GCS – 15 with any of the following Clinical preference: Vomiting Observation for 4-6 hours Headache OR Questionable or brief LOC Head CT without contrast Injury caused by high risk mechanism of injury Severe mechanism of injury Minor head trauma (GCS = 15 with severe mechanism No head CT & no vomiting, headache, loss of consciousness, or signs of fracture) Triggers

Clinical Features

Generalized Seizure Fever Hypoglycemia Sleep Deprivation +/- preceding aura LOC and tone, tonic clonic convulsion Post-ictal state -

-

-

Vasovagal syncope Prolonged standing Physical emotional/ stress Presyncope (eg, lightheadedness, pallor, diaphoresis) Immediate return to baseline after event

-

Cardiogenic Syncope Exertion Dehydration Sudden LOC without prodrome Immediate return of baseline after event



41

Diagnosis Gene Mutation Location of mutated gene Main clinical features Symptomatic à MRI of brain and orbits

Neurofibromatosis Type 1 and Type 2 NF1 (von Recklinghouse disease) NF1 tumor suppressor gene; Codes the protein neurofibromin Chromosome 17 Café-au lait spots Multiple Neurofibromas (benign peripheral nerve sheath tumors) Lisch-nodules (iris hamartomas) Risk of optic pathway gliomas

-

NF2 (Central Neurofibromatosis) NF2 tumor suppressor gene; codes for protein merlin Chromosome 22 Bilateral acoustic neuromas

History

Examination

Caregiver behavior

Features of non-accidental trauma Vague or changing details Injury inconsistent with child’s development stage Sibling described as responsible Injury inconsistent with history Multiple fracture or bruises in different healing stages Likely inflicted injuries (eg, cigarette burn) Poorly kempt child Cruises on neck, abdomen, or unusual sites Injury to genitalia, hands, back, or buttocks Argumentative or violent Lack of emotional interaction with child Inappropriate response to child’s injury Inappropriate delate in seeking medical care Partial confession in causing injury

Cerebral Palsy 1. Spastic: Spastic diplegia is the MC form seen in premature infants: Hypertonia, hyperreflexia that involve predominantly the lower extremities with both feet pointing down and inward, equinovarus deformity. Resistance to passive muscle movement increased with more rapid movement of the affected extremity (“clasp knife”) 2. Dyskinetic 3. Ataxic Risk Factors Prematurity IUGR Intrauterine infection Antepartum hemorrhage Placenta pathology Multiple gestation Maternal EtOH consumption Maternal tobacco use Management Physical, occupation & speech therapies Baclofen & botulinum toxin for spasticity Comorbidities Intellectual disability Epilepsy Strabismus Scoliosis

42

Manifestations of CNS Tumors by location

Supratentorial Posterior fossa

-

Brainstem

-

Spinal Cord

-

↑ICP, seizures ↑ICP (morning headache, vomiting, papilledema, macrocephaly), ataxia, clumsiness Ataxia, clumsiness, cranial nerve palsies Back pain, weakness, abnormal gait



Pathophysiology

-

Clinical Features

-

Diagnosis

-

Treatment

-

Phenylketonuria AR mutation in phenylalanine hydroxylase Failure to convert phenylalanine into tyrosine resulting hyperphenylalaninemia & neurologic injury Severe intellectual disability Seizures Musty body odor Hypopigmentation involving, skin, hair, eyes, & brain nuclei Newborn screening (tandem mass spectrometry) Quantitative amino acid analysis (phenylalanine level) Dietary restriction of phenylalanine

Differential diagnosis of flaccid paralysis Infant Botulism Foodborne Botulism Ingestion of Clostridium Ingestion of preformed C botulinum spore from botulinum toxin environmental dust Descending flaccid paralysis Descending flaccid paralysis Human-derived botulism Equine derived botulism immune globulin antitoxin

Diagnosis Pathogenesis

Presentation Treatment

Guillan—Barre Syndrome Autoimmune peripheral nerve demyelination Ascending flaccid paralysis Pooled human immune globulin



Cause Seizure

Intracranial hemorrhage Ischemic stroke Hemiplegic migraine

Acute causes of Hemiplegia in Children Features -

History of generalized limb jerking or LOC Presence of post-ictal confusion or Todd paralysis Symptoms self resolve History of trauma &/or bleeding disorder (eg, hemophilia) Signs of increased intracranial pressure (eg, vomiting, bradycardia) History of prothrombotic disorder (eg, Antithrombin III deficiency) or cardiac disease (Patent foramen ovale) Onset in adolescence & often positive family history History of headache & visual aura Symptoms self-resolve 43



Respiratory

Gastrointestinal

Reproductive MSK

Clinical Features of Cystic Fibrosis (AR) Obstructive lung disease Recurrent pneumonia Chronic rhinosinusitis Obstruction Meconium ileus Distal intestinal obstruction syndrome Pancreatic Disease Exocrine Pancreatic insufficiency à Inability to absorb fats and A,D,E and K, leading to steatorrhea (greasy, foul-smelling stools), FTT, and vitamin deficiencies. Vit K Deficiency à Prolonged PT with easy mucosal bleeding (epistaxis) and bruising. CF-related diabetes Biliary Cirrhosis Infertility (>95% men, ~20% women) Osteopenia à Fractures Kyphoscoliosis Digital Clubbing

Epidemiology

Clinical Presentation

Diagnosis Treatment

Meckel’s Diverticulum Rule of 2’s 2% Prevalence 2:1 male-to-female ratio 2% are symptomatic at age 2 Located within 2 feet of the ileocecal valve Asymptomatic incidental finding Painless hematochezia Intussusception Intestinal obstruction Volvulus Technetium 99m Pertechnetate scan Surgery for symptomatic patients

Clinical Features

Diagnosis

Treatment



Biliary Atresia Initially well-appearing, followed by development of the following over 1-8 weeks: Jaundice Acholic (pale) Stools or dark urine Hepatomegaly Conjugated hyperbilirubinemia Mild elevation in transaminases Ultrasound: absent or abnormal gallbladder Hepatobiliary scintigraphy: failure of tracer excretion Liver Biopsy: expanded port tract with duct obstruction & proliferation; portal tract edema, fibrosis & inflammation Intraoperative cholangiogram (gold standard): Biliary obstruction Hepatoportoenterostomy (Kasai procedure) Liver transplant

44

Infantile hypertrophic pyloric stenosis Risk factors First- born boy Erythromycin Formula feeding Clinical Presentation Projective non-bilious emesis Poor weight gain Dehydration “Olive shaped” abdominal mass Laboratory findings Hypochloremic metabolic alkalosis Diagnostic studies Abdominal ultrasound: thickened and elongated pylorus Treatment Intravenous rehydration Pylormyotomy Diagnosis Colic

-

GERD

-

Corneal abrasion Hair tourniquet Milk protein allergy Normal infant crying

Differential diagnosis for crying infant Clinical Features Crying that occurs in an otherwise healthy infant for >3 hours daily (usually evening), >3 times a week & for a duration of >3 weeks Arching of the back during or after feeding (Sandifer syndrome) Frequent spit-ups or vomiting Poor weight gain Positive fluorescein examination Presence of hair that is accidently tied or wrapped around an extremity or digit Blood-streaked, mucous, loose stools or severe constipation Intermittent crying that resolves with usual consoling methods Curation < 2 hours a day

Risk Factors

Clinical Presentation

Diagnosis Treatment

-

Intussusception Recent viral illness or rotavirus vaccination Pathological lead points: à Meckel’s Diverticulum àHSP à Celiac Disease à Intestinal tumor à Polyps Sudden Episodic, crampy excruciating abdominal pain “Currant jelly” stools Sausage-shaped abdominal mass “Target sign” on ultrasound/Technetium-99m pertechnetate scanning Enema (air or water soluble contrast) Surgical removal of lead point (if present)

Features of Primary Ciliary Dyskinesia Pathophysiology (AR) Mutations in ciliary dynein arms leads to absent or dysmotile cilia & poor mucociliary clearance Clinical Recurrent sinopulmonary infections Manifestations Bronchiectasis +/- Situs invertus (Kartagener syndrome) Diagnosis Low nasal nitric oxide levels Bronchoscopy & electron microscopy visualization of ciliary abnormalities Genetic testing

45

Iron Poisoning Clinical Within 20 minutes to 4 days: Features Abdominal pain Vomiting (Hematemesis) Diarrhea (melena) Hypotensive Shock Metabolic acidosis Diagnostic Anion gap metabolic acidosis Findings Deferoxamine Treatment Whole bowel irrigation Deferoxamine Supportive car for circulation, airway and breathing Bronchiolitis Epidemiology Clinical Presentation Treatment Prevention

Complications

Age < 2years RSV most common cause Antecedent nasal congestion/discharge & cough Wheezing/crackles & respiratory distress (eg, tachypnea, retractions, nasal flaring) Supportive care Palivizumab for infants with the following conditions: Preterm birth or equal to 1 mm, corneal asymmetry, ptosis or other lesions obstruction the visual axis, and nystagmus are additional indication for referral. Proteinuria: (Repeat dipstick testing on two subsequent occasions) Urine dipstick can be positive in up to 10% of schoolaged children Transient (intermittent): MCC of proteinuria and can be caused by fever, exercise, seizures, stress, or volume deletion Orthostatic: Very common in adolescent boys and is defined by increase protein when the patient is an an upright position that returns to normal when the patient is recumbent. Persistent: Choanal Atresia: should be suspected in a newborn with cyanosis that is aggravated by feeding and relieved by crying. The congenital nasal malformation is caused by failure of the posterior nasal passage to canalize completely, leaving either a bony (90%) or membranous (10%) obstruction. The condition may be isolated or part of a CHARGE Syndrome: Coloboma, Heart Defects, Atresia Choanae, Retardation of growth/development, Genito-urinary anomalies, and Ear abnormalities/deafness. a. The clinical severity depends on whether the infant’s ability to breathe through the mouth and whether one of both choanae is/are obstructed. B/L obstruction classically presents with cyclic cyanosis that worsens when infants cannot breathe through the mouth (eg, during feeding) and recovers when they do (eg, crying). U/L choanae atresia may not be diagnosed until the development of a first URI. b. Failure to pass a catheter through the nares into the oropharynx is suggestive of choanae atresia. The diagnosis is confirmed by CT scan. IN contrast to infants with a patents choanae, infants with choanal atresia have narrowing at the of the pterygoid plate in the posterior nasal cavity. In severe cases air fluid level may develop at the obstruction site. The first step in management consists of placing an oropharyngeal airway and orogastric tube feeding. a. Definitive treatment involves repairing obstruction with surgery or endoscopy. A patient’s history of cyanotic congenital heart disease and recurrent sinusitis place him at significant risk for brain abscesses. Bacteria can spread directly from the sinuses in to the frontal lobe. Cyanotic congenital heart disease, such as Tetralogy of Fallot, also increased the risk for Hematogenous spread of infection to the brain. The right to left shunt of venous blood in heart, through a VSD, bypasses the pulmonary circulation, where bacteria in the bloodstream are typically filtered and removed by phagocytosis. The patients have poor perfusion to the brain due to chronic hypoxemia, metabolic acidosis, and increase blood viscosity from secondary polycythemia. This results in a tendency for bacterial seeding at the gray-white matter junction. Fever, severe headaches (nocturnal or morning), and focal neurologic changes make up the classis triad of brain abscess. Seizure can be in the initial manifestation in 25% of patients. Brain imaging should be performed in the next step of diagnostic workup. Meningococcal meningitis is the most common cause of bacterial meningitis in children and young adults. It typically presents with fever, headache, neck stiffness, altered mental status, and petechial or purpuric rash. Prompt diagnosis and treatment are critical give that it has a high morbidity and mortality rate even with appropriate treatment. Chediak-Hagashi Syndrome: (AR) Defect in lysosomal trafficking regulator gene (LYST) Microtubule dysfunction in phagosome-lysosome fusion. Recurrent pyogenic infection by staphylococci and streptococci, partial albinism, peripheral neuropathy, progressive neurodegeneration, infiltrative lymphohistiocytosis, Giant granules in granulocytes and platelets, pancytopenia, Mild coagulation defects Chronic Granulomatous Disease: Clinical Features: Majority of cases are X-linked Recessive, Recurrent pulmonary & cutaneous infection. Catalase-positive pathogens (eg, Staphylococcus aureus, Serration, Burkholderia, Aspergillui). Streptococcus Catalase Positive –ingested but not killed, Catalase Negative ingested and killed. Antimicrobial prophylaxis with trimethoprim-sulfamethoxazole and Itraconazole. Nitroblue tetrazolium testing: The classic screening test for CGD is the Nitroblue tetrazolium dye test (NBT Test) In this test, leukocytes are incubated with a colorless NBT dye., which is converted to a blue color if the respiratory burst is intact. Hep B Vaccination reduces risk of cancer Posterior vermis syndrome (Caudal vermis Syndrome): Often results from medulloblastomas. Damage to the Flocculonodular lobe results in vestibular problems. Symptoms are difficulty in maintaining posture of the trunk and neck, and staggering gait. Anterior vermis syndrome (Rostral vermis syndrome): Degeneration of anterior portion of vermis. Symptoms include general incoordination, gait difficulties, leg ataxia. Results from malnutrition associated with alcoholism. Periventricular leukomalacia: White matter infarcts occurring during hypotensive episodes in premature infants. Usually bilateral, can often result in diplegia or quadriplegia. One potential cause of cerebral palsy. Anencephaly: Absence of skull and cerebral hemispheres. Results from lack of closure of anterior Neuropore. 51

33. Rachischisis results from non closure of the posterior end of the NEURAL TUBE!!! 34. Holoprosencephaly: Characterized by one large ventricle (instead of two lateral), and fusion of midline structures (thalamus, etc.). 35. Lissencephaly: Absence of Gyri th 36. Dandy Walker: Absent vermis. Enlargement of the 4 Ventricle. 37. Isolated VSD: Holosystolic murmur and LLSB, an apical “diastolic rumble” may be heard due to relatively increased flow across the mitral valve. 38. Brutons Agammaglobulinemia: underdeveloped lymphoid tissues (tonsils, lymph nodes) IvIG 39. Staphylococcus aureus: Cervical lymphadenopathy is common in children. Lymphadenitis is diagnosied when the lymph node becomes tender and erythematous in addition to being enlarged. Acute unilateral lymphadenitis is usually caused by bacterial infection. 40. The most common predisposing factor for acute bacterial sinusitis is viral upper respiratory infection. 41. The newborns of all mother with active hepatitis B should be passively immunized with Hepatitis B Immune Globulin (HBIG), followed by active immunization with recombinant HBV vaccine. a. HBsAg Positive b. IgM anti-HBcAg Positive c. HBeAg Positive 42. Layngomalacia is worse in the supine position 43. 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”) 44. PDA: Continuous flow murmur, continuous flow from the aorta to the pulmonary artery because aortic pressure is higher than pulmonary arterial pressure in both systole and diastole. Best heard at LLSB. 45. Turner Syndrome: MC: Bicuspid aortic valve, Coarctation of the aorta, and aortic root dilation with an increased risk of aortic dissection. 46. The clinical presentation in patients with TOF depends on the degree of right ventricular outflow obstruction. The murmur is typically a harsh, systolic ejection murmur of the mid-to left-upper sternal border and is due to the presence of RVO obstruction (subvalvular, pulmonary valve stenosis or supravalvular narrowing in the main pulmonary artery/ Squatting increases the peripheral systemic vascular resistance (afterload) and decreases the degree of right-to-left shunting across the VSD. This improves the cyanosis and increases the intensity of systolic murmur due to increased flow across the RVOT.) 47. Holosystolic murmur at the LLSB is characteristic of a VSD. VSD is the MC cause of congenital heart disease. Echocardiography should be performed to determine the location and size of the defect and to rule out other defects. The volume of the left-to-tight shunt through a small VSD remains low, even after the postnatal decline in pulmonary resistance. 48. PGE1 therapy is used to keep the ductus arteriosus open. Indomethacin closes it. 49. DiGeorge: Transposition of Great Vessels, Truncus Arteriosus 50. Sturge Weber Syndrome: Focal or generalized seizures, mental retardation, and a port wine stain or nevus flammeus along the territory of the trigeminal nerve which represents a congenital unilateral cavernous hemangioma. Seizures are the usual neurological presentation and may start at ay age. Other pertinent findings are hemianopsia, hemiparesis, hemisensory disturbance and ipsilateral glaucoma. Skull x-rays, taken after the age of 2 years, reveal gyriform intracranial calcification that resemble a tramline. Treatment is aimed at controlling the seizures and reducing intraocular pressure/ Argon laser therapy is successful in removing the skin lesions. 51. Esophageal coins in asymptomatic patients can be observed for up to 24 hours after ingestion. If the p[patient is symptomatic or the time of ingestion is unknown, the coin should be removed promptly by flexible endoscopy. 52. Intestinal obstruction: Water soluble contrast enema 53. Newborn have unconjugated hyperbilirubinemia à Physiologic jaundice of the newborn usually resolves on its own within 1-2 weeks. Sometimes phototherapy for kernicterus a. HCT: 50-60% à High hemoglobin turnover b. Bilirubin clearance is initially slow because hepatic uridine glucuronyltrasnferase (UGT) does not reach adult levels until age 2 weeks. Asian newborns have decreased UGT activity compared to other ethnicities. c. Enterohepatic recycling is increased as the sterile newborn gut cannot breakdown bilirubin to urobilinogen for fecal excretion. 54. Breast milk contains the protein whey > casein, more easily digested than casein and helps to improve gastric emptying. Human milk also contains Lactoferrin, lysozyme, and excretory IgA proteins that confer improved immunity to the infant. Calcium and phosphorus are lower in human milk compared to formula, and the main carbohydrate is both human milk

52

55.

56.

57. 58. 59. 60.

61. 62. 63.

64. 65. 66.

milk and formula is lactose. Breast milk has an inadequate supply of Vitamin D, and exclusively breast fed infants must receive supplemented vitamin D. Risk for jejunal atresia: “triple bubble” sign and gasless colon a. Vascular accident in utero Vasoconstrictive medication b. Cocaine and tobacco Midgut volvulus: Presents in a neonate (age