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656 Cards in this Set
- Front
- Back
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croup
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bug --> parainfluenza
presentation --> barking cough, hoarseness, inspiratory stridor diagnosis --> clinical treatment --> warm moist, nebulized epi, corticosteroids complications --> hypoxia |
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epiglotitis
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bug --> strep pyogenes, strep neumoniae, staph, mycoplasma
medical emergency presentation --> sudden onset high fever, difficulty swalloing, drooling, toxic-appearance, stridor diagnosis --> clinical looking cherry-red swollen epiglotis treatment --> consult ENT and intubate + antibiotics complications --> death |
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bacterial tracheitis
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bug --> staph
presentation --> brassy cough, high fever, respiratory distress, no drooling or dysphagia diagnosis --> clinical + laryngoscopy complicaions --> airway obstruction |
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spasmodic croup
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bug --> viral
presentation --> coryza and hoarseness + sudden onset afebrile croup-like; improves within hours, lasts 2-3 days diagnosis --> clinical treatment --> supportive |
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acute infecitous laryngitis
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bug --> diptheria
presentation --> hoarseness and loss of voice out of proportion to systemic findings, sore throat |
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differential diagnosis of upper airway obstruction
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croup
epiglotitis bacterial tracheitis spasmodic croup acute infectious laryngitis foreign body aspiration retropharyngeal abscess extrinsic compression angioedema |
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laryngomalacia
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congenital anomaly presents with stridor at 2 weeks of life
MCC of stridor clinical suspicion confirmed with laryngoscopy treat with surgery |
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congenital subglottic stenosis
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recurrent persistent croup
2nd MCC of stridor initial test --> x-ray confirm --> laryngoscopy surgery |
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vocal cord paralysis
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associated with meningomyelocele, Chiari, hydrocephalus or acquired
bilateral --> airway obstruction unilateral --> aspiration, cough, choking, weak cry diagnosis --> flexible brnchoscopy resolves in 6-12 months; may require temporal tracheostomy |
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airway foreign body
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presentation --> acute choking, coughing, wheezing, respiratory distress, decreased breath sounds
diagnosis --> chest x-ray reveals air trapping; confirm with bronchoscopy therapy --> removal by bronchoscopy |
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acute bronchitis
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presentation --> dry hacking persistent cough may be purulent; coarse and fine crackles
differential --> exclude pneumonia treatment --> supportive |
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bronchiolitis
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bug --> RSV (50%), parainfluenza, adenovirus, mycoplasma
presentation --> paroxysmal wheezy cough, dyspnea, tachypnea, apnea, fine crackles; most common in <2y/o diagnosis --> clinical; chest x-ray shows patchy atelectasis treatment --> supportive care +- beta2-agonist; no steroids |
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small airway diseases
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bronchiolitis
acute bronchitis |
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stridor differential diagnosis
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laryngomalacia
congenital subglottic stenosis vocal cord paralysis croup |
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upper respiratory infection diffferenatial
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croup
acute infectious laryngitis acute bronchitis bronchiolitis |
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pneumonia etiology
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0-28 days --> GBS, gram-, listeria
3 wk- 3 mo --> C. trachomatis, RSV, parainfluenza 4 mo-4 y --> viruses; RSV; parainfluenza, influenza, adenovirus >5 y/o --> bacteria; mycoplasma, pneumocococcus, C. pneumoniae |
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viral Vs bacterial pneumonia
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onset --> acute in bacterial; several days of URI in viral
temperature --> very high in bacterial URI --> present in viral toxicity --> bacterial rales --> scattered in viral; localized in bacterial WBC --> increased in bacterial chest x-ray --> streaking in viral; lobar in bacterial |
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pneumonia diagnosis
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clinical + x-ray + WBC
definitive --> isolation of virus or antigens in respiratory secretions for viruses; blood culture, pleural fluid or lung for bacteria (not sputum) |
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x-ray in pneumonia
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viral --> hyperinflation with bilateral interstitial infiltrates and peribronchial cuffing
pneumococus --> lobar consolidation mycoplasma or chlamydia pneumoniae --> unilateral lower-lobe interstitial pneumonia looks worse than presentation |
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chlamydia trachomatis pneumonia
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1-3 months
no fever or wheezing staccato cough eosinophilia |
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pneumonia treatment
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empiric amoxicillin for outpatient mild cases
empiric parenteral cefuroxime for hospitalized if viral --> withold treatment if mild; if worsens add antibiotics for mycoplasma of chlamydia --> erythromycin |
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cystic fibrosis pathogenesis
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mutation of CFTR gene renders epithelial cells incapable of secreting chloride with failure to clar mucous secretions produced
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systems mostly affected by cystic fibrosis
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respiratory tract
pancreas intestical glands genitourinary tract |
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intestinal manifestations of cystic fibrosis
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meconium ileus --> in 15-20% of newborns (dilated loops with air fluid levels and ground glass on x-ray)
pancreatic insufficiency --> malabsorption with failure to thrive, frequent bulky greasy stools, ADEK deficiency, DM, pancreatitis hepatobilliary --> obstruction leads to icterus, ascites hepatomegaly rectal prolapse |
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respiratory manifestations of cystic fibrosis
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presentation --> cough and purulent mucus (bronchiectasis), PFT abnormalities, cor pulmonale, death
exam --> increased A-P diameterhyperresonance, rales, clubbing, expiratory wheezing |
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genitourinary presentation of cystic fibrosis
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delayed sexual development
azoospermia, hernias, hydrocele, cryptorchidia secondary amenorrhea, cervicitis, infertility |
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cystic fibrosis diagnosis
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best test --> two sweat tests > 60mEq/L
pancreatic tests --> 72-hour fecal fat collection, trypsin in stools PFT --> obstructive by 5 years then restrictive micro --> staph and pseudomonas in sputum genetic testing newborn screen |
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newborn screen for cystic fibrosis
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1) immunoreactive trypsinogen in blood
2) confirmation with sweat or DNA testing |
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cystic fibrosis management
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clear airways --> salbutamol saline aerosol + human recombinant DNAse (mucolytic); chest physical therapy
antibiotics --> tobramycin (outpatient); tobramycin + piperacillin (inpatient) ibuprofen slows disease; no steroids nutritional --> pancreatic enzymes + ADEK vitamins |
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sudden infant death syndrome definition
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sudden death unexplained by autopsy, forensics or medical history
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sudden infant death syndrome differential diagnosis
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infections
congenital anomaly unintentional injury trumatic child abuse intentional suffocation |
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sudden infant death syndrome reduction of risk
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supine while sleep
cribs with safety standards no soft surfaces or bedding avoid overheating |
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asthma presentation
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diffuese wheezing, expiratory then inspiratory
prolonged expiratory phase decreased breath sounds accesory muscles tachypnea rales/bronchi increased work of breathing |
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asthma diagnosis
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clinical diagnosis in children
lab tests and provocation tests are not required but may be used to follow patient LFT --> gold standard; FEV1/FVC <0.8 with improved FEV1 after beta agonist images --> hyperinflation and flattening of diaphragms; peribronchial thickening |
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mild intermittent asthma
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daytime --> <2x/week
nightime --> >2x/month PFT --> FEV1 >= 80% treatment --> short-acting beta agonist (albuterol, levalbuterol) |
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mild persistent asthma
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daytime >= 2x/week
nightime >= 2x/month PFT --> FEV1 >= 80% treatment --> inhaled steroids + beta agonist for breakthrough |
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moderate persistent asthma
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daytime --> daily
nightime --> >1x/week PFT --> FEV1 60-80% treatment --> inhaled steroids + long-acting beta agonist (salmeterol) +- short-acting beta agonist for breakthrough |
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severe persistent asthma
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daytime --> continually; limited activities
nightime --> frequent LFT --> <= 60% treatment --> high-dose inhaled steroid + salmeterol (long-acting) + albuterol + systemic steroids |
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asthma rapid-onset medications
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beta 2 agonists --> albuterol, levalbuterol (inhaled)
anticholinergics --> ipratropium (less potent than beta 2; use as add-on) |
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long-term asthma medications
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NSAID --> cromolyn; mild-moderate asthma; alternative
long-acting beta agonists --> salmeterol; used in ICS inhaled corticosteroids --> 1st gen: beclomethasone, flunisolide, triamcinolone; 2nd gen: budesonide, fluticasone, mometasone leukotrienes --> inhibitors: zileuton; antagonists: montelukast, zafirlukast systemic steroids --> prednisone, prednisolone |
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emergency management of asthma
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O2
inhaled albuterol +- ipratropium +- corticosteroids PO/IV go home if sustained improvement, SaO2 > 92% after 4 hours in room air if no improvement --> hospitalize and add IV steroids |
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blood culture+
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0-3 years --> developmental dysplasia of hip
4-12 years --> Legg-Clave-Pethers disease >12 years --> slipped capital femoral epiphysis |
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developmental dysplasia of the hip presentation
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Barlow sign --> dislocates hip in neonate
Ortolani sign --> Galeazzi sign --> |
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developmental dysplasia of the hip diagnosis
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dynamic ultrasound of hips is best test
after 4 months --> frog lateral x-ray |
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developmental dysplasia of the hip treatment
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Pavlik harness for 1-2 months then surgery
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Legg-Calve-Perthes disease
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idiopathic avascular necrosis of capital femoral epiphysis in 4-12 y/o
presentation --> mild intermittent pain in anterior thigh with painless limp and decreased range of motion diagnosis --> AP and frog lateral x-rays shows compression, collapse and deformity of femoral head treatment --> casts, bedrest or surgical correction |
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slipped capital femoral epiphysis
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obese with delayed skeletal maturation or thin with recent growth spurt
mild antalgic gait with external rotation sudden onset of pain and cannot stand or walk knee pain also diagnosis --> AP and frog-lateral x-ray shows femoral neck rotated anteriorly with head in acetabulum treatment --> close the epiphysis by pinning |
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transient synovitis
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7-14 days after URI
acute pain with limp pain in groin, anterior thigh and knee diagnosis --> small effusion, increased ESR, normal x-ray treatment --> bedrest |
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metatarsus adductus
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forefoot is adducted from flexible to rigid; can place foot flat on exam
treat with serial plaster casts, orthoses and corrective shoes surgery if still significant by 4 years |
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talipes euinovarus
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hindfoot equinus, hindfoot and midfoot varus, forefoot adduction
can't get heel flat on exam treatment --> serial casting, orthoses, corrective shoes by 3 months; else surgery |
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internal femoral torsion
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femoral anteversion
secondary to abnormal sitting habits entire leg rotated inwardly at hip during gait surgery if significant after 10y/o |
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popliteal cyst
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Baker cyst
distension of bursa by synovial fluid behind knee ultrasound for aspiration surgery if symptomatic or enlargement |
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Osgood-Schlatter disease
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traction apophysitis of tibial tubercle (overuse injury) in active adoloescent
swelling, tenderness, increased prominence of tubercle treatment is rest and immobilization |
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scoliosis
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more common in adolescent females
PA and lateral x-rays of entire spine braces if < 40 degrees; surgery if > 45 degrees or brace failure |
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osteomyelitis etiology
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staph MC overall
GBS in neonates pseudomonas in puncture wounds salmonella in sickle cell disease septic arthritis |
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osteomyelitis presentation
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pain with movements
fever edema erythema limp or refusal to walk |
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osteomyelitis diagnosis
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blood culture, CBC, ESR, CRP
x-rays --> to exclude trauma foreign body or tumor; are normal until after 10-14 days ultrasound --> joint effusion best is MRI definitive diagnosis --> bone biopsy for culture and sensitivity |
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osteomyelitis treatment
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always cover for staph initially
4-6 weeks |
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osteogenesis impefecta
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fragile bones, blue sclera and early deafness
diagnosis --> rule out child abuse; confrim with collagen studies using cultured fibroblasts from biopsy |
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osteogenic sarcoma
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more common after 10 y/o
predisposes to retinoblastoma x-ray --> sclerotic destruction seen as sunburst |
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osteogenic sarcoma Vs. Ewing sarcoma x-rays
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osteogenic --> sclerotic destruction seen as sunburst lesion
Ewing --> lytic lesion with laminar periosteal elevation seen as onion skin lesion |
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cystitis presentation
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dysuria, urgency, frequency, suprapubic pain, no fever
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pyelonephritis presentation
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abdominal or flank pain, fever, malaise, nausea, vomit, diarrhea
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asymptomatic bacteriuria presentation
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positive urine culture without signs or symptoms
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urinary tract infection diagnosis
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urine culture from midstream collection shows >100,000 colonies or >10,000 if symptomatic
if not toilet trained then suprapubic or catheter collection |
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urinary tract infection treatment
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cystitis --> amoxi, TMP-SMX or nitrafurantoin
pyelonephritis --> IV ceftriaxone OR ampicillin + gentamicin |
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urinary tract infection follow-up
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urine culture 1 week after stopping antibiotics
ultrasound if there was fever for anatomy, abscess or hydronephrosis obtain voiding cystourethrogram |
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vesicoureteral reflux etiology
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abnormal backflow of urine from bladder to kidney when submucosal tunnel between mucosa and detrusor is absent
predisposes to pyelonephritis --> scarring --> reflux nephropathy --> proteinuria --> hypertension --> ESRD |
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vesicoureteral reflux diagnosis
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VCUG for diagnosis and grading
renal scan for size and scanning; if scar --> follow creatinine |
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vesicoureteral reflux treatment
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continous antibiotic prophylaxis
surgery if breakthrough UTI, new scars, failure to resolve |
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obstructive uropathy presentation
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hydronephrosis
upper abdominal or flank pain pyelonephritis failure to thrive |
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obstructive uropathy diagnosis
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palpable abdominal mass in newborn --> hydronephrosis or PCKD
can be diagnosed prenatally with ultrasound obtain VCUG in all cases of congenital hydronephrosis |
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obstructive uropathy treatment
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void bladder with catheter
IV antibiotics surgical correction |
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acute poststrep GN presentation
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1-2 weeks after GAS throat infection or 3-6 weeks after GAS skin infection
edema hematuria hypertension proteinuria flank pain |
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poststrep GN diagnosis
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urinalysis --> RBC casts, proteinuria
low C3 best single test is anti-DNAse antigen OR positive throat culture OR increasing antibody titter |
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poststrep GN treatment
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penicillin X 10 days
sodium restriction and diuresis fluids control hypertension with CCB, or ACEI complete recovery in 95% |
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IgA nephropathy
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most common chronic glomerular disease worldwide
hematuria + URI + proteinuria + hypertension normal C3 treat blood pressure most importatnly |
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Alport syndrome
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X-linked dominant nephritis
intermittent gross hematuria 1-2 days after URI hearing deficits ocular abnormalities (protrusion of lens into anterior chamber) |
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hemolytic uremic syndrome presentation
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bloody diarrhea 5-10 days after infection
oliguria hematuria microangiopathic hemolytic anemia thrombocytopenia uremia |
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hemolytic uremic syndrome treatment
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manage fluids and electrolytes
treat hypertension total parenteral nutrition early peritoneal dialysis if O157:H7 is suspected NO ANTIBIOTICS |
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infantile polycystic kidney disease presentation
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autosomal recessive
bilateral kidney enlargement with multiple cysts may have Potter sequence hypertension oliguria renal failure |
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infantile polycystic kidney disease diagnosis
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bilateral flank masses in ultrasound in infant with pulmonary hypoplasia
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diseases with nephrotic syndrome
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minimal change disease
membranous nephropathy membranoproliferative nephropathy |
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nephrotic syndrome
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massive proteinuria
hypoalbuminemia edema hyperlipidemia |
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minimal change disease diagnosis
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proteinuria
hypoalbuminemia <2.5 g/dL hyperlipidemia biopsy if hematuria, hypertension, heart failure or no response to treatment after 8 weeks |
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minimal change disease treatment
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prednisone 4-6 weeks than taper out for 2-3 months
if severe --> albumin infusion + diuretic |
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minimal change disease complications
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infections to pneumococcus and varicella
spontaneous bacterial peritonitis |
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undescended testes
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should descend by 6 months
surgical correction to avoid seminoma |
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testicular torsion
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acute testicular pain and swelling with tenderness to palpation
diagnosis --> Doppler treatment --> emergency surgery |
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undescended testes Vs. refractile testes
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refractile --> brisk cremasteric reflex in 1 y/o but can manipulate back into scrotum
undescended usually in the inguinal canal |
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torsion of appendix testes
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gradual onset testicular pain in 2-11 y/o which naturally resolves in 3-10 days
diagnosis --> blue dot seen through scrotal skin; ultrasound if uncertain |
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epididymitis
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ascending retrograde urethral infection with acute scrotal pain and swelling in adolescents
diagnosis --> pyuria in urinalysis treat with bedrest and antibiotics |
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varicocele
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abnormal dilation of pampiniform plexus presents with painless paratesticular mass
surgery if significant difference in size of testes, pain or if contralateral testis is diseased or absent |
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testicular tumors
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palpable painless mass that does not transilluminate; 65% malignant
diagnosis --> ultrasound, serum AFP and beta-hCG treatment --> radical orchiectomy |
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apgar score
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heart rate
respiration color tone reflex irritability |
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routine newborn care
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cleanse and rinse
bacterocidal agent to cord 1% silver nitrate or 0.5% erythromycin for eyes 1mg vitamin K IM |
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birth injuries
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subconjunctival hemorrhage
skull fracture brachial palsy clavicular fracture facial nerve palsy caput succedaneum cephalohematoma subcutaneous fat necrosis |
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subconjunctival hemorrhage
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from sudden increase in intrathoracic pressure passing through canal; resolves spontaneously
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skull fractures of newborn
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linear --> most common; no symptoms nor treatment needed
depressed --> elevate to prevent cortical injuries basilar --> fatal |
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brachial palsy
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Erb-Duchene --> C5-C6; no sholder abduction, external rotation or supination of arm
Klumpke --> C7/C8 +- T1; paralyzed hand +- Horner syndrome most will recover |
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clavicular fracture
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from shoulder dystocia in vertex position and arm in extension in breech; palpable callus within a week; immobilization
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facial nerve palsy
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from forceps or pressure during delivery; improves over week or neuroplasty
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caput succedaneum
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diffuse edematous swelling of scalp which crosses suture lines; spontaneously dissapears
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cephalohematoma
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diffuse edematous swelling of scalp which does not cross suture lines; spontaneously dissapears
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subcutaneous fat necrosis
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difficult labor/delivery, perinatal asphixia, prolonged hypothermia; hypocalcemia
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cutis marmorata
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lacy, reticulated vascular pattern over skin on most of the body; improves but may be associated with syndromes
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milia
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firm white papules, inclusion cyst and Epstein pearls on palate midlines; resolves
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salmon patch
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nevus simplex; pale pink vascular macules usually symmetric; facial ones dissapear
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mongolian spots
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blue to slate-gray macules on presacral, back or posterior thighs; improves; differentiate from child abuse
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erythema toxicum
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firm yellow-white papules/pustules with erythematous base; self-limited; differentiate from SSSS
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port-wine stain
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vascular malformation, permanent, unilateral; rule out Sturge-Weber; laser treatment
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hemangioma
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superficial --> bright red protuberant sharply demarcated; involutes in years
deep --> bluish hue firm cystic; may persist; check internal organs; laser therapy |
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neonatal acne
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erythematous papules on face from high maternal androgens; no treatment
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preauricular tags/pits
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may indicate hearing loss and GU anomalies
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nevus sebaceous
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area of alopecia with nodular orange skin; possible malignancy; remove before adolescence
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coloboma of iris
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cleft at six-o-clock position; most have other eye anomalies; CHARGE association
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aniridia
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hypoplasia of iris; associated with Wilms tumor
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brachial cleft cyst
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mass on lateral neck; infections are common; surgical removal
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thyroglosal duct cyst
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mass on neck midline; moves with swallowing
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congenital torticollis
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knotted-up sternocleidomastoid; treat with passive ROM exercises
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breast hypertrophy
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common; should be symmetric; otherwise may be absecess or mastitis
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suppernumerary nipples
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usually along mammary gland; associated with renal and cardiovascular anomalies
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Poland syndrome
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amastia, pectoralis muscle aplasia, rib deformities, webbed fingers, radial nerve aplasia
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pectus excavatum/carinatum
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usually benign; correction for cosmetic reasons
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diaphramagmatic hernia
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scaphoid abdomen and bowel sounds in chest
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omphalocele
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sac covered protrusion through umbilicus; associated with malformations and chromosome disorders
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umbilical hernia
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most close spontaneously; consider congenital hypothyroidism
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gastroschisis
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uncovered protrusion lateral to abdominal midline; may have intestinal atresia
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abdominal masses in newborn
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polycystic kidney disease, hydronephrosis, enlarged bladder
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hydrocele
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transitory; palpation and illumination of testes diffrentiated from inguinal hernia
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hypospadia
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urethral opening on ventral surface of penis
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epispadia
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urethral opening on dorsal surface
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undescended testes
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usually in inguinal canal; differentiate from retractile testes; if not descended by one year then surgical removal to avoid sterility and malignancy
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hernias in newborn
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usually inguinal and indirect; surgical treatment
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syndactyly
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fusion of fingers or toes; get x-ray first for surgical planning
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polydactyly
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> 5 fingers; no treatment needed if good blood supply
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newborn screening
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do before discharge or fourth day
more realiable after 48 hours examples: phenylketonuria, galactosemia, hypothyroidism |
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phenylketonuria
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phenylalanine hydroxylase deficiency with excess phe; mental retardation, vomiting, abnormal movements, fair hari skin blue eyes, normal at birth; treatment is phenylalanine restriction for life
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galactosemia
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G-1-P uridyltransferase deficiency; jaundice, hypoglycemia, catarracts, mental retardation, e. coli sepsis; restric lactose
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intrauterine growth restriction
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symmetric --> genetic syndromes, chromosomal abnormalities, congenital infections, teratogens
assymetric --> uteroplacental insufficiency due to maternal diseases; placental dysfunction |
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infants of diabetic mothers
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fetal hyperinsulinemia --> hypoglycemia
large for gestational age and plethoric hyperbilirubinemia tachypnea cardiomegaly - assymetric septal hypertrophy birth trauma - macrosomia polycythemia renal vein thrombosis |
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causes of respiratory distress in newborn
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respiratory distress syndrome
transient tachypnea of the newborn meconium aspiration diaphragmatic hernia |
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respiratory distress syndrome of newborn presentation
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due to surfactant deficiency in premature
tachypnea, nasal flaring, grunting hypoxemia, hypercabia and respiratory acidosis |
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respiratory distress syndrome of newborn diagnosis
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initial diagnostic test --> chest x-ray (ground glass appearance, atelectasis, air bronchograms)
most accurate test --> L/S ratio (done on amniotic fluid prior to birth) |
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respiratory distress syndrome of newborn treatment
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best initial treatment --> oxygen + nasal continuous positive airway pressure
most effective treatment --> exogenous surfactant administration prevention --> avoid prematurity with tocolysis antenatal betamethasone |
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transient tachypnea of newborn
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due to slow absorption of lung fluid with increased dead space
presents with tachypnea after birth do chest x-ray (air trapping, fluid in fissures, perihilar streaking improves within hours to days |
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meconium aspiration presentation
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meconium passes as result of fetal hypoxia and distress
severe respiratory distress hypoxemia barrel chest |
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meconium aspiration diagnosis
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chest x-ray --> patchy infiltrates, increased AP diameter, flattening of diaphragm
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meconium aspiration complications
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pneumothorax
aspiration pneumonitis pulmonary artery hypertension |
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meconium aspiration treatment and prevention
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treatment --> positive pressure ventilation, high frequency ventilation, nitric oxide, extracorporeal membrane oxygenation
prevention --> endotracheal intubation and airway suction of depressed infants with thick meconium |
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diaphragmatic hernia
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abdominal content into thorax causes pulmonary hypoplasia
respiratory distress scaphoid abdomen bowel sounds in chest bowel in chest seen in x-ray diagnosis --> prenatal ultrasound treatment --> immediate intubation and surgical correction |
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meconium plugs
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seen in IODM, Hirchsprung, cystic fibrosis, maternal drug abuse
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meconium ileus
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mostly in cystic fibrosis
abdominal distention, vomitting, perforation, no passage of meconium within 24-48 hours first test --> abdominal x-ray shows distention of bowel loops treatment --> high gastrografin enemas |
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tracheoesophageal fistula
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coughing choking or gagging with first feeding
respiratory distress aspiration pneumonia mostly proximal esophageal atresia and distal fistula with air in stomach |
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necrotizing enterocolitis
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transmural intestinal necrosis associated with prematurity
bloody stools, apnea, lethargy, abdominal distention pneumatosis intestinalis on abdominal x-ray is pathognomonic |
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Hirchsprung disease
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initial test --> barium enema shws megaacolon proximal to aganglionic segment
best test --> rectal biopsy shows absent ganglionic cells |
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duodenal atresia
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bilious vomiting from first feeding
abdominal x-ray shows double bubble sign surgical correction |
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kernicterus
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unconjugated bilirubin in basal ganglia and brain stem nuclei
hypotonia seizures opisthotonos delayed motor skills choreoathetosis sensorineural hearing loss |
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physiologic Vs. pathologic jaundice
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physiologic --> 2-3 day of life, dissapears by 5th, peak bilirubin 10-12mg/dL, rate of rise <5mg/dL/day
pathologic --> appears in 1st 24 hours, variable dissapearance, unlimited bilirubin, rate of rise > 5mg/dL/day |
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jaundice work-up in newborn
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1) determine if it's physiologic or pathologic
2) determine if it's direct or indirect 3) if indirect --> Coombs test; if negative --> 4) determine hemoglobin levels |
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indirect hyperbilirubinemia, Coombs test +
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Rh/ABO incompatibility
thalassemia minor |
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indirect hyperbilirubinemia, Coombs test -, high hb
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polycythemia
twin-twin transfusion maternal-fetal transfusion delayed cord IUGR infant of diabetic mother |
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indirect hyperbilirubinemia, Coombs test -, low hb
|
spherocytosis
eliptocytosis G6PD deficiency pyruvate kinase |
|
|
direct hyperbilirubinemia causes
|
sepsis
TORCH total parenteral nutrition hypothyroidism galactosemia tyrosinemia cystic fibrosis choledochal cyst |
|
|
treatment of hyperbilirubinemia
|
phototherapy (complications are loose stools, rash, overheating, dehydration, bronze baby)
if phototherapy is not enough --> double volume exchange transfusion |
|
|
Crigler-Najjar type I
|
glucoronyl transferase deficiency leads to unconjugated hyperbilirubinemia
rapid rise in indirect bilirubin >20mg/dL, no hemolysis, kernicterus Dx --> closed liver bipsy to measure glucoronyl transferase Tx --> intensive phototherapy and exchange transfusions |
|
|
Crigler-Najjar type II
|
partial glucoronyl transferase deficiency leads to unconjugated hyperbilirubinemia
milder than type I with no kernicterus Tx --> phenobarbital |
|
|
Gilbert syndrome
|
unconjugated hyperbilirubinemia
low glucoronyl transferase levels benign, no treatment necessary |
|
|
Dubin-Johnson
|
conjugated bilirubin cant get out of liver
mild disease detected in adolescence |
|
|
Rotor syndrome
|
conjugated bilirubin can't get out of liver
mild disease detected in adolescence |
|
|
neonatal sepsis presentation
|
irritability
poor feeding fever grunting bulging fontanel delayed capillary filling |
|
|
neonatal sepsis risk factors
|
prematurity
chorioamnionitis intrapartum fever maternal leukocytosis prolonged rupture of membranes |
|
|
neonatal sepsis bugs
|
group B strep
E. coli listeria |
|
|
neonatal sepsis work-up and diagnosis
|
CBC
blood culture urinalysis urine culture chest x-ray if meningitis is suspected --> lumbar puncture |
|
|
neonatal sepsis treatment
|
if no meningitis --> ampicillin + aminoglycoside
if meningitis --> ampicillin + 3rd gen ceph (except ceftriaxone) |
|
|
TORCH
|
Toxoplasmosis
Other Rubella Cytomegalovirus Herpes |
|
|
toxoplasmosis congenital infection
|
usually in cat feces or undercooked raw meat
chorioretinitis hydrocephalus generalized intracranial calcifications seizures visual impairments treat mother with spiramycin treat baby with sulfonamide for 6 months |
|
|
congenital rubella
|
blueberry muffin spots
PDA pulmonary artery stenosis cataracts congenital hearing loss |
|
|
cytomegalovirus neonatal infection
|
periventricular calcifications
microcephaly chorioretinitis sensorineural hearing loss |
|
|
neonatal herpes
|
disseminated --> pneumonia, shock, hepatitis
skin, eyes, mouth --> keratoconjunctivits CNS --> meningitis, lethargy, seizures outcomes --> deafness, blindness, microcephaly, seizures diagnosis --> PCR + Tzanck smear culture treatment acyclovir |
|
|
congenital syphilis
|
before 2 --> fever, anemia, rash, jaundice, anemia
after 2 --> Hutchinson teeth, Clutton joints, saber shins, saddle nose, osteochondritis, rhagades diagnosis --> radiographic bone changes, treponema in scrapings from lesions; most specific --> FTA-ABS treatment --> penicillin |
|
|
TORCH work-up if suspected
|
total cord IgM
urine CMV culture --> if negative, excludes CMV IgM --> toxoplasmosis, rubella maternal rubella status --> if positive, excludes it PCR --> for herpes |
|
|
neonatal seizures causes
|
hypoxic ischemic encephalopathy --> cerebral palsy
intraventricular hemorrhage --> preterm metabolic --> IODM, inborn errors of metabolism, DiGeorge infection --> TORCH, maternal fever, sepsis/meningitis |
|
|
neonatal seizures work-up
|
EEG --> may be normal
CBC, electrolytes, glucose if meningitis --> lumbar puncture if infection --> blood and urine cultures if preterm --> ultrasound of the head for intraventricular hemorrhage |
|
|
neonatal seizures presentation
|
chewing, tongue thrusting, apnea, staring, blinking, color changes, desaturation
|
|
|
live atttenuated vaccines
|
viral --> MMR, varicella, yellow fever, nasal influenza
bacterial --> BCG, oral typhoid, smallpox |
|
|
killed virus vaccines
|
polio, rabies, hepatitis A
|
|
|
subunit vaccines
|
hepatitis B
parenteral influenza acellular pertussis |
|
|
toxoids
|
diptheria
tetanus |
|
|
polysacchride vaccines
|
Hib, pneumococcal, meningococcal
|
|
|
unknown immunization status
|
when in doubt, initiate immunizations
need formal immunizations record to be documented |
|
|
active immunization if recently given gammaglobulin
|
live virus vaccines have decreased immunogenicity when given shortly after Ig
wait 3 months |
|
|
vaccine safety evidence
|
MMR vaccine does not cause autism or IBD
multiple immunizations don’t increase risk of diabetes or immune dysfunction no causal relationship between hepB vaccine and demyelinating disorders no relationship between meningococcal vaccine and Guillain-Barre |
|
|
misconceptions about vaccine contraindications
|
immunize in spite of:
fever <105 with reaction to previous DPT mild acute illness concurrent antibacterials prematurity family history of seizures family history of infant death syndrome |
|
|
vaccines in immunocompromised
|
do not give live vaccines
|
|
|
preterm infant vaccinations
|
immunize at chronological age
do not reduce dosage |
|
|
precautions to vaccinations
|
if fever is moderate to severe --> vaccinate later
egg allergy is not contraindication to MMR egg allergy may rarely produce type I reaction after influenza vacccine (contains egg proteins) |
|
|
hypersensitivity reactions with vaccines
|
influenza --> egg hypersensitivity
IPV and MMR --> neomycin and streptomycin |
|
|
postexposure measles immunization
|
if 0-6 months --> do nothing unless mother is not immune (give Ig only)
if 6-12 months --> Ig + vaccine if >12 months --> vaccine only within 72 hours of exposure |
|
|
postexposure varicella immunization
|
give vaccine and Ig to unvaccinated contacts
|
|
|
postexposure hepatitis B immunization
|
hepB Ig + vaccine
repeat vaccine at 1 and 6 months |
|
|
hepatitis B vaccination
|
birth
1-2 months 6-18 months catch up 1 dose --> 19 months - 4-6 years |
|
|
vaccines given at 2, 4, 6 months
|
rotavirus
DPT Hib PCV IPV |
|
|
boosters at 15-18 months
|
DTP
|
|
|
vaccines at 12 months
|
MMR
varicella PCV Hib Hepatitis A |
|
|
boosters at 4-6 years
|
DTP
IPV MMR varicella |
|
|
influenza vaccine
|
given from 6 months through ages 4-6
|
|
|
bossters at 15 years
|
MCV4
|
|
|
vaccines given at 11-12 years
|
DPT booster
HPV (3 doses) MCV4 |
|
|
rotavirus vaccine
|
2, 4, 6 months
|
|
|
DPT vaccine
|
5 doses
2, 4, 6 months; 15-18 months; 11-12 years |
|
|
Hib vaccine
|
2, 4, 6 months; 12-15 months
give 1 catch up dose if not vaccinated and < 5 years old |
|
|
PCV vaccine
|
2, 4, 6 months; 12-15 months
if high risk group --> give 23-valent from 2-18 years |
|
|
IPV vaccine
|
2, 4 and 6-18 months
booster at 4-6 years catch up series up to 18 years old |
|
|
MMR vaccine
|
12-15 months
4-6 years catch up series 7-18 years |
|
|
varicella vaccine
|
12-15 months
4-6 years catch up series 7-18 years |
|
|
HPV vaccine
|
3 doses between 11-12 years
catch up up to 18 years old |
|
|
MCV4 vaccine
|
11-12 years
|
|
|
body weight in infants and children
|
newborn looses 10% of BW in 1st week
newborn regains or surpasses BW in two weeks 30g/d first month 20g/d at 3-4 months BW is doubled by 6 months and triples by 1 year between 6-12 - 3-6 growth spurts; myelination complete by 7 |
|
|
breast feeding contraindications
|
HIV
CMV, HSV (if lesions on breast) HBV (before vaccination) acute maternal disease breast cancer substance abuse not contraindicated in mastitis |
|
|
absolute drug contraindications for breast feeding
|
antineoplastics
radiopharmaceuticals ergot alkaloids iodine atropine lithium chloramphenicol cyclosporin nicotine alcohol |
|
|
relative drug contraindications for breast feeding
|
neuroleptics
sedatives tranquilizers metronidazole tetracycline sulfonamides steroids |
|
|
formula feeding
|
do not give cow milk before 1 year
can develop iron deficiency anemia with cow milk |
|
|
solid foods in infant
|
2 months --> breast or formula milk
4-6mo --> iron fortified cereals 6-7mo --> strained vegetables and fruits, unsweetened fruit juice, avoid orange juice 6-8mo --> plain yogurst, cottage cheese, egg yolk, strained meats 7-9mo --> soft meats, poultry, mashed fruits and vegetables, cheese, cereals 8-10mo --> soft finger foods 9-12mo --> regular table foods 12mo --> whole eggs, orange juice, cow milk |
|
|
foods to avoid in first year
|
egg whites
nuts wheat products chocolate citrus fish honey |
|
|
CA = BA
|
normal --> ideal, genetic short stature
abnormal --> genetic, chromosomal, endocrine related |
|
|
CA > BA
|
normal --> constitutional delay
abnormal --> chronic systemic disease, endocrine related |
|
|
CA < BA
|
normal --> obesity
abnormal --> precosious puberty, congenital adrenal hyperplasia, hyperthyroidism |
|
|
pathologic short stature
|
start out in normal range but then abnormal
suspect Turner if female suspect cranipharyngioma if vision problems also hypopituitarism, hypothyroidism |
|
|
failure to thrive
|
malnutrition --> malabsorption (infection, celiac, CF, protein-loosing enteropathy); allergies; immunodeficiency; chronic disease
initial tests --> CBC, urinalysis, liver function tests, serum protein, sweat chloride, stool for ova, document caloric intake |
|
|
nonorganic failure to thrive presentation
|
thin extremities, prominent ribs
neglect of hygine delays in social and speech development avoidance of eye contact, expressionless, no cuddling response feeding aversions |
|
|
nonorganic failure to thrive causes
|
not fed adequeately
emotional and maternal deprivation psychosocial deprivation is most common cause retarded or emotionally disturbed parents, poverty |
|
|
nonorganic failure to thrive diagnosis
|
feed under supervision (hospitalization if necessary) for 1 week
should gain >2oz/day monitor or videotape mother |
|
|
nonorganic failure to thrive management
|
underfeeding from maternal neglect --> must report to CPS
infants discharged need intensive long-term intervention |
|
|
obesity in children risk factors
|
predisposition
parental obesity inactivity overfeeding baby |
|
|
obesity in children presentation
|
tall stature
abdominal striae early puberty increased adipose in mammary in boys |
|
|
obesity in children diagnosis
|
obesity --> BMI > 95% (BMI > 30)
overweight --> BMI 85-95% (BMI 25-30) |
|
|
obesity in children complications
|
increased risk of obesity in adulthood
hypertension hypercholesterolemia hyperinsulinism slipped capital femoral epithesis sleep panea type 2 diabetes |
|
|
obesity in children treatment
|
exercise and balanced diet
no medications |
|
|
protein/energy malnutrition
|
formerly Kwashiorkor
inadequeate caloric intake + severe protein deficiency edema dermatitis sparse hair decreased subcutaneous tissue decreased muscle tone |
|
|
Kwashiorkor Vs marasmus
|
Kwashiorkor --> generalized edema
marasmus --> distended abdomen |
|
|
vitamin A
|
function --> retinal pigments, bone and teeth, epithelial maturation
manifestations --> ocular lesions, dry scaly skin, anemia, retardation, growth retardation |
|
|
B1
|
thiamine
coencyme in carbs metabolism, generates NADP manifestations --> beriberi, peripheral neuritis, CHF, ptosis, ataxia, nerve paralysis |
|
|
riboflavin
|
functions --> energy production, general growth, tissue maintenance
manifestations --> glositis, keratitis, conjunctivits, photophobia, seborrhea |
|
|
niacin
|
functions --> glycolysis, electron transport
manifestations --> pellagra (dermatitis, diarrhea, dementia), depression |
|
|
B6
|
pyridoxine
functions --> CNS function, amino acid metabolism manifestations --> convulsionsipheral neuritis, dermatitis, anemia |
|
|
vitamin C
|
functions --> enzymatic reactions, collagen synthesis
manifestations --> scurvy, costochondral rosary |
|
|
vitamin D
|
deficiency --> rickets (osteomalacia, tetany)
|
|
|
alpha tocopherol
|
functions --> nucleic acid metabolism
manifestations --> creatinuria, striated muscle necrosis |
|
|
vitamin K
|
functions --> oxydative phosphorylation, clotting factors
manifestations --> hemorrhage |
|
|
skill areas in development
|
visual-motor
language motor social adaptive |
|
|
mental retardation definition
|
IQ <70-75 + related limitation in at least two adaptive skills
|
|
|
pica
|
predisposed by --> retardation, lack of care and neglect
more common in autism and low socioeconomic status leads to lead poisoning, iron deficiency and parasites |
|
|
enuresis
|
bedwetting after 5 years
primary -->no significant dry period due to hyposecretion of ADH and very deep sleep secondary --> after a period of >6 monts dry due to disease; may need urinalysis and ultrasonography |
|
|
encopresis
|
2/3 of cases are retentive
diagnose with hard stool on rectal; if negative --> abdominal x-ray first step --> clear impacted feces; short term mineral oil and laxatives; behavioral changes and therapy |
|
|
sleep walking and terrors
|
during first third of night in slow-wave sleep
no daytime sleepiness or recall common family history treat with reassurance and take safety precautions |
|
|
nightmares
|
during last third of night in REM sleep
daytime sleepiness and vivid recall if recurrent --> investigate possible abuse or anxiety disorder |
|
|
autistic disorder
|
qualitative impairment in verbal and nonverbal communication and social interactions
failure to attach as infant delayed/absent social smile failure to anticipate interactions echolalia outbursts of anger solitary play possible retardation diagnosis --> clinical treatment --> behavioral therapy and specialized education |
|
|
asperger disorder
|
impairment in social interactions
repetitive behaviors obsessional idiosyncratic interests no language impairment as in autism treatment --> group social skills trainning |
|
|
Rett syndrome
|
X-linked dominant, affects mostly girls
normal development until age 1-2 then regression of language and motor skills microcephaly loss of purposeful hand movements ataxia excessive sighing autistic behavior sudden death from status epilepticus |
|
|
ADHD
|
inattention
poor impulse control motor overactivity symptoms interfere with child's functioning in two or more settings symptoms present before 7 years old diagnosis of exclusion --> chronic illness, substance abuse, sleep disorders, adjustment disorder behavioral scales are good but not enough for diagnosis treatment --> 1st stimulants +- clonidine; 2nd bupropion; atomoxetine |
|
|
types of abuse
|
physical --> intentional injuries, fractures, bruises, burns
psychological --> terrorizing, putting down, comparing, insulting |
|
|
types of neglect
|
physical --> food, clothing, schooling, medical care, safety
psychological --> love, support, stimulation, recognition |
|
|
most common cause of underweight infant
|
nutritional neglect; 50% of all cases of failure to thrive
|
|
|
when to suspect physical abuse
|
injury is unexplained or implausable
injury is incompatible with the history or development of child delay in seeking medical care |
|
|
how to document suspected physical abuse
|
take photographs
include color chart include scale |
|
|
battered child syndrome
|
bruises, scars, internal organ damage and fractures
|
|
|
bruises in physical abuse
|
usually in buttocks, genitals, back, back of hands, thoraco-abdominal
symmetrical or geometrical shape bruises in different stages are incompatible with single event |
|
|
fractures in physical abuse
|
highly specific --> rib fracures in infants, fractures at different stages, bilateral, complex skull fractures
|
|
|
burns in physical abuse
|
cigarette burns --> circular, punched-out of uniform size
immersion burns --> glove-stocking pattern of extremity, demarcation is uniform, no splash burns |
|
|
haed trauma in physical abuse
|
consider when infant presents with coma, convulsions, apnea or increased ICP
subdural hematoma with no scalp marks or skull fracture retinal hemorrhages obtain head CT and eye exam |
|
|
lab studies if physical abuse is suspected
|
PT, PTT, platelets, bleeding time
skeletal survey if <2y/o if severely injured --> head CT +- MRI + opthalmic exam if abdominal trauma --> urine and stool for blood, liver and pancreatic enzymes, abdominal CT |
|
|
physical abuse first step in management
|
prompt medical, surgical or psychological treatment
|
|
|
reporting to CPS
|
report any child suspected of abuse or neglect
meet with case worker law enforcement forensics and criminal prosecution initial phone report then written report within 48 hours |
|
|
when to hospitalize physical abused child
|
medical condition requests it
diagnosis is unclear no alternative safe place if parents refuse hospitalization or treatment --> get emergency court order |
|
|
what to explain to parents of abused child
|
why an inflicted wound is suspected
that physician is obligated to report report is to protect the child the family will be provided services that a CPS worker and law enforcement officer will be involved |
|
|
Munchausen syndrome by proxy definition
|
parent fabricates or induces illness in child
usually a healthcare worker or model parent |
|
|
Munchausen syndrome by proxy presentation
|
symptoms not compatible with any specific disease
presentation varies --> diarrhea/laxatives; rash/caustic substances; seizures/insulin |
|
|
Munchausen syndrome by proxy diagnosis
|
if high suspicion --> don’t perform any tests
examine all specimens review old medical records including siblings if necessary, hidden camera |
|
|
Munchausen syndrome by proxy management
|
confront parent after confirmation and offer help
report to CPS protect siblings |
|
|
Down syndrome
|
trisomy 21
upward slanting palpebral fissures speckled iris (Brushfeld spots) inner epicantal fold simian crese ECD > VSD > PDA duodenal atresia increased cardiovascular disease, ALL, early Alzheimer |
|
|
Edwards syndrome
|
low-set malformed ears
clenched fists rocker-bottom feet omphalocele VSD, ASD, PDA most die in first year |
|
|
Patau syndrome
|
trisomy 13
holoprsencephaly + CNS defects microcephaly microphthalmia cleft lip/palate scalp defects polydactyly |
|
|
WAGR
|
deletion of 11p13
Wilms tumor + aniridia + GU anomalies + retardation |
|
|
Klinefelter
|
XXY
retardation decreased upper:lower segment ratio with long limbs eunochoid hypogonadism gynecomastia |
|
|
Turner
|
X0
small stature female gonadal dysgenesis (not evident in childhood) low IQ congenital lymphedema broad chest and widely spaced nipples webbed neck horseshoe kidney bicuspid aortic valve coarctation |
|
|
fragile X syndrome
|
CGG repeat on chromosome X
mild o profound mental retardation macrocephaly large ears macroorchidism |
|
|
Beckwith-Wiedemann syndrome
|
macrosomia
macroglosia pancreatic beta cell hyperplasia --> hypoglycemia fetal adrenocortical cytomegaly omphalocele hemihypertrophy linear fissures in lobule of external ear management --> ultrasound and serum AFP every 6 months until 6y/o looking for WIlms tumor and hepatoblastoma |
|
|
Prader-Willi syndrome
|
paternal 15q deletion
obesity hypogonadism hypotonia retardation food-related behavioral problems small hands and feet |
|
|
Angelman
|
maternal 15q deletion
severe retardation inappropriate laughter absent speech puppet gait (ataxia, jerky arm movements) |
|
|
Robin sequence
|
micrognathia
glossoptosis cleft soft palate watch out for airway obstruction |
|
|
Waardenburg syndrome
|
lateral displacement of inner canthi with short palpebral fissures
partial albinism deafness |
|
|
achondroplasia
|
AD 90% from new gene mutation for fibroblast growth factor receptor 3
short stature megalocephaly, small foramen magnum (hydrocephalus), short cranial base and prominent forehead lumbar lordosis normal intelligence small eustachian tube with otitis media and hearing loss |
|
|
marfan
|
AD mutation in fibrillin gene with variability
tall stature, long limbs arachnodactyly joint laxity with kyphoscoliosis lens subluxation (suspensory ligament) ascending aortic dilation with or without aneurysm |
|
|
Ehlers-Danlos syndrome
|
droopy ears
hyperextensible skin with easy bruisability, poor wound healing joint hyperlaxity (dislocations) aortic root dilation aneurysms (aortic, cranial) blue sclera ectopia lentis |
|
|
osteogenesis imperfecta
|
decreased synthesis of procollagen
growth deficiency hypoplasia of dentin and pulp --> translucent teeth blue sclera bowing of limbs scoliosis, kyphosis fractures hyperextensible joints hearing impairment secondary to otosclerosis |
|
|
fetal alcohol syndrome
|
growth deficiency
retardation hyperactivity behavioral abnormalities joint abnormalities VSD > ASD |
|
|
fetal hydantoin syndrome
|
similar to carbamazepine
hirsutism cupid's bow lips |
|
|
fetal valproate syndrome
|
midface hypoplasia
cardiac defects meningomyelocele cleft lip |
|
|
retinoic acid embryopathy
|
bilateral anotia
facial nerve paralysis truncal malformations CNS malformations |
|
|
females on isotretinoin
|
pregnancy screening
one definitive method of birth control back-up method of birth control counseling |
|
|
Potter sequence
|
renal agenesis --> oligohydramnios --> fetal compression --> pulmonary hypoplasia
Potter facies death from respiratory insufficiency screen parents with ultrasound because 9% have asymptomatic malformations |
|
|
Williams syndrome
|
friendly, talkative personality
hoarse voice elfin facies with prominent lips and open mouth supravalvular aortis stenosis renal artery stenosis with hypertension hypercalcemia |
|
|
Noonan syndrome
|
short stature
retardation short webbed neck pectus excavatum pulmonary valvular stenosis cryptorchidism |
|
|
VACTERL association
|
Vertebral defects
Anal atresia Cardiac defects (VSD) TE fistula esophageal atresia renal defects limb defetcs |
|
|
CHARGE association
|
Coloboma
Heart defects (TOF, PDA) Atresia choanae Retardation of growth Genital hypoplasia Ear abnormalities/deafness |
|
|
prune belly syndrome
|
95% males
GU defects absence of anterior abdominal wall muscles cryptorchidism |
|
|
Peutz-Jeghers
|
AD, 50% spontaneous mutations
pigmentation and polyps colored spots on lips, oral mucous membranes and periorally polyps in jejunum, nasopharynx and bladder clubbing of fingers |
|
|
multiple lentigines syndrome
|
LEOPARD
Lentigines EKG abnormalities Ocular hypertelorism Pulmonary stenosis Abnormalities of genitalia (hypogonadism, cryptorchidism) Retardation of growth Deafness |
|
|
fluorosis
|
white patches of brown discoloration from high fluoride content of water, swallowed toothpaste, tetracyclines if given from 7 months gestation to 7 years
|
|
|
delayed eruption of primary teeth
|
hypothyroidism, hypopituitarism, trisomy 21, rickets
|
|
|
acute causes of diarrhea
|
in infants, children and adolescents MCC are gastroenteritisand systemic infection
|
|
|
chronic causes of diarrhea in infants
|
postinfectious lactase deficiency
milk/soy intolerance chronic diarrhea of infancy celiac disease cystic fibrosis |
|
|
chronic causes of diarrhea in children
|
postinfectious lactase deficiency
irritable bowel syndrome Celiac disease lactose intolerance giardiasis IBD |
|
|
chronic causes of diarrhea in adolescents
|
irritable bowel syndrome
IBD lactose intolerance giardiasis laxatives |
|
|
bacterial causes of diarrhea
|
campylobacter
enteroinvasive E. coli salmonella shigella yersinia E. coli 0157:H7 |
|
|
viral causes of diarrhea
|
rotavirus
adenovirus astrovirus calicivirus Norwalk agent |
|
|
parasitic causes of diarrhea
|
giardia
entamoeba histolytica |
|
|
acute diarrhea presentation
|
diarrhea, vomiting, abdominal cramps, nausea, fever
|
|
|
management of acute diarrhea
|
proper hydration
antidiarrheals are never used in children |
|
|
acute diarrhea diagnosis
|
stool exam
mucus, blood, leukocytes --> colitis if blood and leukocytes or suspected HUS --> stool culture if recent antibiotics --> C. difficile ova and parasites immunoassays for viruses |
|
|
presentation of chronic diarrhea
|
weight, height and nutritional status is normal
if carbs present in diarrhea --> carb malabsorbtion if fat present in stools and weight loss --> fat malabsorption |
|
|
workup for chronic diarrhea
|
hyistory and physical
stool --> pH, reducing substances, fat, leukocytes, toxin, ova, parasites blood studies --> CBC, differential, ESR, electrolytes, glucose, BUN, creatinine sweat test + 72-hour fecal fat |
|
|
diarrhea management
|
most need supportive therapy only
if HUS suspected --> no antibiotics for entamoeba and giardia --> metronidazole |
|
|
Schwachman-Diamond syndrome
|
pancreatic insuficiency
neutropenia malabsorption |
|
|
intestinal lymphagiectasia
|
lymph fluid leaks into bowel lumen
steatorrhea protein-loosing enteropathy |
|
|
disaccaridase deficiency
|
osmotic diarrhea
acidic stools |
|
|
abetalipoproteinemia
|
severe fat malasbsorption from birth
acanthocytes very low to absent plasma cholesterol and triglycerides |
|
|
fat malabsorption screening
|
most common in pancreatic insuficiency and CF
fat in stools with Sudan stain confirm with 72-hour fecal fat in stools if positive --> sweat test serum trypsinogen is also good screen |
|
|
carbohydrate malabsorption screening
|
measure reducing substances in stools
breath hydrogen test after carb load |
|
|
protein loss malabsorption screening
|
spot stool alpha-1-antitrypsin levels
serum Fe, folate, Ca, Zn, Mg, B12, D, A |
|
|
differential diagnosis of malabsorption
|
giardiasis
HIV or congenital T/B cell deficiencies small bowel --> gluten enteropathy, abetalipoproteinemia, lymphangiectasia pancreatic insuficiency CF malrotation short bowel |
|
|
celiac disease presentation
|
diarrhea
failure to thrive growth retardation vomiting anorexia ataxia all from hypersensitivity to gluten, rye, wheat, barley |
|
|
celiac disease diagnosis and treatment
|
antiendomysial and antigliadin antibodies
biopsy to confirm is mandatory treat with gluten-free diet |
|
|
VACTERL association
|
Vertebral anomalies
Anal atresia Cardiac defects TracheoEsophageal fistula Renal anomalies Limb anomalies |
|
|
tracheoesopahgeal fistula presentation
|
cough, cyanosis, respiratory distress, bubbling, regurgitation and aspiration in first feed
|
|
|
tracheoesophageal fistula diagnosis
|
inability to pass nasogastric tube
x-ray shows tube coiled with air-distended stomach for isolated TE fistula --> esophagogram with contrast media or endoscopy |
|
|
GERD presentation
|
postprandial regurgitation
esophagitis feeding aversion obstructive apnea, cough, wheezing |
|
|
GERD diagnosis
|
most by history and physical
best test --> lowes esophagus pH barium esophagogram and upper GI studies endoscopy if erosive |
|
|
GERD treatment
|
conservative
prokinetic agents have no efficacy in children first line drugs --> H2 antagonists (ranitidine) second line --> proton pump inhibitors surgery if refractory |
|
|
GERD differential diagnosis
|
milk/food allergy
pyloric stenosis intestinal obstruction infection TEF |
|
|
pyloric stenosis presentation
|
nonbilous projectile vomitingbefore 5 months of life
palpation of firm 2cm nonmovable olive-shpaed mass in epigastrium |
|
|
pyloric stenosis diagnosis and treatment
|
best test is ultrasound
treat with liquid and electrolyte correction then surgery |
|
|
duodenal atresia presentation
|
bilous vomiting without abdominal distention on first day of life (there's distention in ileal or jejunal atresia)
polyhydramnios prenatally jaundice |
|
|
duodenal atresia diagnosis and treatment
|
x-ray --> double bubble with no distal bowel gas
do x-ray of spine and ultrasound for other associated anomalies treat with nasogastric decompression, IV fluids, surgery |
|
|
malrotation and volvulus presentation
|
acute or chronic obstruction with bilous emesis and recurrent abdominal pain in first year of life
|
|
|
malrotation and volvulus diagnosis
|
ultrasound or contrast x-ray
|
|
|
Meckel diverticulum
|
acid-secreting mucosa causes intermittent painless rectal bleeding; may have anemia, obstruction or diverticulitis
diagnosis --> Meckel radionucleotide scan treat with surgery |
|
|
intussusception presentation
|
sudden onset of severe paroxysmal colicky abdominal pain
progressive weakness shock and fever bile vomit hematochezia |
|
|
intussusception diagnosis
|
x-ray --> increased density; look for perforation
air enema is diagnostic and curative |
|
|
intussusception treatment
|
emergent reduction with fluoroscopy
if shock or peritoneal signs --> surgery |
|
|
causes of GI bleeding
|
Meckel
intussusception anal fissure accidental swalloing of maternal blood peptic ulcer disease |
|
|
Crohn disease presentation
|
persistent fever of unknown origin
arthritis weight loss, growth retardation episodes of abdominal pain and bloody diarrhea anywhere in GI tract perianal abscess and fistulas |
|
|
Crohn diagnosis
|
high ESR
small bowel obstruction on x-ray string sign and skip lesions on upper GI study cobblestoning of mucosa fistulas gold standard is colonoscopy and biopsy |
|
|
Crohn treatment
|
steroids
azathioprine and metronidazole for fistulas infliximab and anti-TNF drugs surgery if drug failure |
|
|
Crohn differential diagnosis
|
infectious enteropathy
recurrent abdominal pain arthritis leukemia |
|
|
ulcerative colitis presentation
|
involves only colon
bloody diarrhea with mucus abdominal pain and tenesmus anemia, leukocytosis, fever and tachycardia vary according to severity |
|
|
ulcerative colitis diagnosis
|
diagnosis of exclusion with symptoms present at least 3-4 weeks
endoscopy with biopsy is best test |
|
|
ulcerative colitis treatment
|
symptomatic relief
aminosalicylates and sulfasalazine steroids anti-TNF agents (infliximab) surgery if medical failure |
|
|
ulcerative colitis complications
|
higher risk of colon cancer
toxic megacolon with perforation |
|
|
Crohn Vs. UC
|
Crohn --> perinanal disease, mouth ulcers, strictures, fissures, fistulas,skip lesions, transmural, granulomas
UC --> bloody diarrhea, toxic megacolon, crypt abscess |
|
|
Hirchsprung
|
full-term infant with delay in passage of meconium > 48 hours
diagnosis --> rectal manometry + biopsy treatment --> surgery |
|
|
functional constipation Vs. Hirchsprung
|
functional constipation --> after 2 years, no abdominal distention, stool in ampulla, relaxation of sphincter in manometry
Hirchsprung --> at birth, abdominal distention, no stool in ampulla, no relaxation of internal sphincter in manometry |
|
|
WAGR
|
Wilms tumor
Aniridia GU malformations Retardation |
|
|
abnormalities of pupils and iris
|
aniridia
myopia hyperopia coloboma of iris --> keyhole appearance of iris; cleft lid leukocoria --> retinoblastoma, cataract, retinopathy and detachment |
|
|
cataracts etiology
|
prematurity
AD inheritance TORCH (especially rubella but also measles, polio, influenza, varicella_ galactosemia chromosomal |
|
|
ectopia lentis
|
instability or displacement of lens
differential --> trauma, uveitis, congenital galucoma, cataract, aniridia, tumor systemic causes --> Marfan, homocystinuria, Ehlers-Danlos |
|
|
strabismus
|
diagnosis --> Hircschberg corneal light reflex
physiologic up to 4 months of age |
|
|
opthalmia neonatorum presentation
|
redness, chemosis, edema of eyelids, purulent discharge
|
|
|
opthalmia neonatorum causes
|
chemical --> first 24 hours from silver nitrate or erythromycin
gonorrhea --> 1st week; complications are corneal ulceration, perforation chlamydia --> 1st 2 weeks; MCC; cornea rarely affected |
|
|
opthalmia noenatorum diagnosis
|
gram stain and culture
tarsal scraping for Giemsa stain PCR for chlamydia |
|
|
opthalmia neonatorum treatment
|
gonorrhea --> IM ceftriaxone + saline irrigation
chlamydia --> erythromycin PO X 2 weeks + irrigation |
|
|
congenital nasolacrimal duct obstruction
|
excessive tears, mucoid material, erythema
treatment --> nasolacrimal massage; resolves in 1 year |
|
|
red eye differential diagnosis
|
bacterial (with mucopurulent discharge) pneumococcus, H. influenza, staph, strep
viral --> watery bilateral discharge with URI; adenovirus, enterovirus allergic chemical keratitis foreign bodies anterior uveitis periorbital Vs. orbital celulitis dacrocystitis Vs. dacroadenitis |
|
|
retinopathy of prematurity
|
prematurity, hyperoxia, vasoproliferative scarring, retinal detachment
treatment --> cryosurgery or laser photocoagulation |
|
|
retinoblastoma
|
leukocoria, strabismus
diagnosis --> confirm with CT; no biopsy treatment --> consider enucleation; also radiation, chemo, laser, cryo |
|
|
corneal abrasions
|
pain, tearing, photophobia, decreased vision
diagnosis --> anesthesia + fluorescein and Wood's lamp treatment --> pain relief and topical antibiotics |
|
|
periorbital celulitis
|
lids and periorbital tissue inflammation due to trauma, infected wound, absecess, URI, bacteremia, sinusitis
presents with erythema, edema, intact ocular movements treatment --> oral or IV antibiotics |
|
|
orbital celulitis
|
erythema, edema + opthalmoplegia due to trauma, infected wound, absecess, URI, bacteremia, sinusitis
diagnosis --> CT scan of head treatment --> IV antibiotics +- drainage |
|
|
otitis externa
|
normal flora --> pseudomonas, staph
presents with pain, conductive hearinng loss, edema, erythema, thick otorrhea treatment --> topical otic preparations (cipro, neomycin) if malignant --> invasion of bones, facial paralysis, vertigo; immediate culture, IV antibiotics + CT +- surgery |
|
|
otitis media
|
etiology --> pneumococus, nontypable H influenza, moraxella
presentation --> ear pain, fever, otorrhea, changes in tympanic membrane treatment --> first line amoxicillin; alternative azythromycin; 2nd line amoxi/clavulanic, cefuroxime, IM ceftriaxone; else tympanoscentesis |
|
|
otitis media with effusion
|
fullness is absent or TM is retracted with little erythema
antibiotics not recommended treatment --> tympanostomy |
|
|
acute mastoiditis
|
complicationof otitis media with effusion
displacement of pinna and pain on percussion of mastoid process CT scan myringotomy + IV antibiotics |
|
|
acquired cholesteatoma
|
complication of otitis media with effusion or chronic otitis media
bonr resorption intracrannially is life threatening CT scan of temporal bone tympanomastoid surgery |
|
|
sign: purulent otorrhea
|
otitis externa
otitis media with perforation drainage from tympanostomy |
|
|
sign: bulging tympanic membrane
|
otitis media
|
|
|
sign: tympanic membrane retraction
|
otitis media with effusion
|
|
|
sign: bubbles or air-fluid level behind tympanic membrane
|
otitis media with effusion
|
|
|
choanal atresia presentation
|
unilateral or bilateral bony or membranous septum between nose and pharynx
associated with CHARGE (50%) unilateral --> asymtomatic until first URI then persistent nasal discharge with obstruction bilateral --> cyanosis while trying to breathe through nose then pink with crying |
|
|
choanal atresia diagnosis and treatment
|
inability to pass catheter 3-4cm into nasopharynx
fiberoptic rhinoscopy CT scan treat --> airway (possible intubation) + transnasal stents |
|
|
CHARGE association
|
Coloboma
Heart defects Atresia choana Retarded growth and development Genital anomalies Ear anomalies |
|
|
nasal foreign body
|
unilateral purulent, malodorous bloody discharge
diagnosis with speculum, otoscope or lateral x-ray |
|
|
epistaxis differential diagnosis
|
digital trauma
dry air allergy inflammation nasal steroid sprays clotting disorders |
|
|
epistaxis treatment
|
1) compression; else -->
2) local oxymetazolone or phenylephrine; else --> 3) anterior or posterior nasal packing; else --> 4) cautery |
|
|
polyps
|
benign pedunculated tumors from chronically inflamed mucosa
MCC is cystic fibrosis; suspect in any child <12 with polyp even in absence of other symptoms presents with obstruction, hyponasal speech, mucopurulent rinorrhea treatment --> intranasal steroids +- surgical removal |
|
|
viral Vs. bacterial pharyngitis
|
age --> <5, >10 viral; 5-10 bacterial
onset --> viral is gradual, bacterial is acute URI --> viral has it; bacterial doesn't rash and exudate --> bacterial is common; viral uncommon ulcers --> common in viral culture --> positive in bacterial conjunctivitis --> in viral petechiae --> bacterial |
|
|
GAS pharyngitis presentation
|
rapid onset severe sore throat and fever
red pharynx tonsilar enlargement with exudate palatal petechia strawberry tongue red swollen uvula large and tender anterior cervical nodes |
|
|
scarlet fever presentation
|
GAS pharyngitis + sandpaper rash
|
|
|
viral pharyngitis presentation
|
adenovirus --> pharyngoconjunctival fever
coxsackie --> herpangina (vesicles and ulcers on posterior pharynx), hand-foot-mouth disease (vesicles) |
|
|
GAS pharingytis diagnosis and treatment
|
initial test --> rapid strep test; if negative --> culture if high suspicion
treatment --> prevents rheumatic fever if within 9 days; penicillin or if allergic erythromycin |
|
|
GAS pharyngitis complications
|
retropharyngeal absecess (bulging of posterior or lateral pharyngeal wall with neck stiffness and pain); surgical drainage
peritonsilar absecess (asymetric tonsilar bulge with displacement of uvula); needle aspiration, drainage, tonsillectomy |
|
|
causes of cervical lymphadenitis
|
infections --> viral/bacterial pharyngitis, cat scratch disease, TB, mumps, thyroglossal duct cyst, brachial cleft cyst
cystic hygroma tumors |
|
|
indications of tonsillectomy
|
increasing frequency of infections
5/year for 2 years 3/year for 3 years unilateral enlarged tonsil |
|
|
indications for adenoidectomy
|
chronic nasal/sinus infection
recurrent/chronic otitis media nasal obstruction with chronic mouth-breathing and loud snoring |
|
|
obstructive sleep apnea presentation
|
mouth breathing and snoring
restlessness frequent awakenings daytome somnolence poor school performance |
|
|
obstructive sleep apnea diagnosis
|
lateral soft-tissue x-ray
polysomnography polycythemia, compensated chronic respiratory acidosis |
|
|
obstructive sleep apnea treatment
|
depends on etiology
weight loss for obesity adenotonsillectomy if upper airway obstruction continuous positive airway obstruction surgery |
|
|
hypopituitarism etiology
|
congenital
acquired --> radiation therapy (ALL), hypothalamic pituitary stalk or anterior pituitary lesions (craniopharymgioma), other tumors, TB, sarcoidosis, trauma, anoxia |
|
|
congenital hypopituitarism presentation
|
normal size and weight at birth followed by severe growth failure in first year
neonatal emergencies (apnea, hypoglycemic seizures) dysmorphic features and pudgy appearance |
|
|
acquired hypopituitarism presentation
|
gradual and progressive
weight loss cold sensitivity mental stupor no sexual maturation amenorrhea hypoglycemia decreased growth diabetes insipidus |
|
|
hypopituitarism diagnosis
|
screening --> low IGF-1 and IGF-BP3
definitive --> GH stimulation test MRI --> indicated in all patients with hypopituitarism other tests --> TSH/T4, ACTH, cortisol DHEA-S, gonadotropins x-ray --> destructive lesions are seen as erosions and calcifications bone age --> skeletal maturation markedly delayed (75% of CA) |
|
|
hypopituitarism differential diagnosis
|
systemic conditions
constitutional delay genetic short stature primary hypothyroidism emotional deprivation |
|
|
hypopituitarism treatment
|
if classic GH deficiency --> weekly recombinant GH
need periodic thyroid evaluation |
|
|
indications of growth hormone therapy
|
documented GH deficiency
Turner end-stage renal disease before transplant Prader-Willi IUGR without catch-up growth by 2 years |
|
|
tall stature differential diagnosis
|
familial tall stature (MCC)
fetal overgrowth --> infant of diabetic mother, Beckwith-Wiedmann, cerebral gigantism postnatal --> exogenous obesity, excess GH, precocious puberty, Marfan, hyperthyroidism |
|
|
hyperpituitarism etiology
|
primary --> adenomas (rare)
secondary --> deficiencies of target organ, excessive prolactin (MCC) and GH secretion |
|
|
hyperpituitarism diagnosis
|
screening --> IGF-1 and IGF-BP3
confirmation --> glucose suppression test all patients need MRI of pituitary chromosome testing for XXY and fragile X thyroid tests |
|
|
hyperpituitarism management
|
treat only if prediction of adult height > 3 SD above mean or evidence of severe psychosocial impairment
trial of sex steroids to accelerate puberty and closure of epiphyseal plates |
|
|
precocious puberty definition
|
girls --> sexual development before 8
boys --> sexual development before 9 |
|
|
precocious puberty presentation
|
advanced height, weight and bone age with early epiphyseal closure
|
|
|
precocious puberty diagnosis
|
screening --> significant increase in LH
definitive --> GnRH stimulation test (IV GnRH with increase in LH) if positive --> MRI |
|
|
congenital hypothyroidism etiology
|
most are primary
thyroid dysgenesis defect in thyroid hormone synthesis transient neonatal hypothyroidism (resolves by 3 months) transplacental passage of maternal thyrotropin central hypopituitarism exposure to radioiodine, iodine, antithyroid drugs |
|
|
congenital hypothyroidism presentation
|
prolonged jaundice
macroglosia umbilical hernia edema mental retardation developmental retardation wide anterior and posterior fontanels open mouth hypotonia |
|
|
congenital hypothyroidism diagnosis and treatment
|
diagnosis --> low T4 with high TSH
treat --> sodium thyroxine |
|
|
acquired hypothyroidism etiology
|
Hashimoto
Down Turner Klinefelter iatrogenic --> medications, radiation, surgery) systemic diseases --> cystinosis, histiocytosis |
|
|
acquired hypothyroidism presentation
|
usually in adolescence
deceleration of growth myxedema constipation cold intolerance incresed sleep delayed puberty |
|
|
acquired hypothyroidism diagnosis and treatment
|
diagnosis --> low T4 with high TSH
treat --> sodium thyroxine |
|
|
autoimmune polyglandular disease type I
|
hypoparathyroidism
Addison mucocutaneous candidiasis autoimmune thyroiditis |
|
|
autoimmune polyglandular disease type II
|
Schmidt syndrome
Addison + type I diabetes +- thyroiditis |
|
|
hyperthyroidism presentation
|
gradual onset of:
exopthalmus (lymphocytic infiltration of retro-orbital tissue lymphadenopathy and splenomegaly thymic hyperplasia emotional lability and motor hyperactivity decreased school performance tremors increased apetitie with weight loss tachycardia, arrhythmias, palpitations thyroid storm --> acute onset hyperthermia, severe tachycardia, restlessness to coma |
|
|
hyperthyroidism diagnosis
|
high T4 + low TSH
anti-peroxidase antibodies anti-TSH receptor antibodies |
|
|
hyperthyroidism treatment
|
PTU or methimazole
beta blocker for acute symptoms if medical treatment fails --> radioablation or surgery + thyroid replacement |
|
|
hypoparathyroidism etiology
|
parathyroid aplasia or hypoplasia --> DiGeorge
X-linked recessive --> embryogenesis defect AD --> mutation in calcium-sensing recptor thyroid surgery polyglandular disease idiopathic |
|
|
hypoparathyroidism presentation
|
muscle pain, cramps, numbness
laryngeal and carpopedal spasm hypocalcemic seizures |
|
|
hypoparathyroidism diagnosis
|
low serum calcium
increased serum phosphorus low alkaline phosphatase low calcitriol low PTH QT prolongation |
|
|
hypoparathyroidsm treatment
|
emergency for neonatal tetany --> IV 10% calcium gluconate + 1,25OH D3
maintainance treatment --> calcitriol + adequate calcium intake |
|
|
hypoparathyroidism differential diagnosis
|
magnesium deficiency
inorganic phosphorus poisoning ALL chemo |
|
|
21 hydroxylase deficiency presentation
|
hypoglycemia
hyponatremia hyperkalemia weakness hypotension weight loss in females --> masculinization (high androgens) |
|
|
21 hydroxylase deficiency diagnosis
|
increased 17-OH progesterone
hyponatremia hypoglycemia hyperkalemia high renin low aldosterone definitive test --> 17-OH progesterone measurement after ACTH bolus (ACTH stimulation test) |
|
|
21 hydroxylase deficiency treatment
|
hydrocortisone + fludrocortisone
corrective surgery for females |
|
|
congenital adrenal hyperplasia causes
|
21 hydroxylase deficiency
11 beta hydroxylase deficiency 17 alpha hydroxylase deficiency 3 beta hydroxysteroid deficiency |
|
|
3 beta hydroxysteroid deficiency
|
salt-wasting
male and female pseudohermaphroditism postnatal virilization precocious pubarche increased 17-OH pregnenolone and DHEA |
|
|
11-beta-hydroxylase deficiency
|
female pseudohermaphroditism
postnatal virilization hypertension from high corticosterone high androgens hypokalemia |
|
|
17-OH deficiency
|
male pseudohermaphroditism
hypertension from high deoxycorticosterone hypokalemia |
|
|
Cushing syndrome etiology
|
exogenous glucocorticoid administration (MCC)
adrenocortical tumor pituitary adenoma --> Cushing disease |
|
|
Cushing syndrome presentation
|
moon facies
truncal obesity impaired growth striae delayed puberty and amenorrhea hyperglycemia hypertension osteoporosis with pathologic fractures |
|
|
Cushing syndrome diagnosis
|
initial test: 1mg overnight dexamethasone suppression test; if abnormal or false+ -->
24-hour urine free cortisol; if normal, exclude Cushing, if abnormal Cushing syndrome diagnosis etiology high dose dexamethasone suppression --> if supression to <50% of control then pituitary adenoma if no response --> ACTH-producing tumor or adrenal hyperplasia --> ACTH level if high, then it's ACTH-producing tumor (do chest CT) if low it's adrenal hyperplasia --> urinary 17KS, DHEA-S, abdominal CT if high and >4cm mass then its adrenal CA if normal or <4cm mass then adrenal adenoma |
|
|
Cushing syndrome treatment
|
remove tumor or adrenals
|
|
|
type I diabetes etiology
|
T-cell mediated destruction of islet cells, insulin autoantibodies, glutamic acid decarboxylase
|
|
|
type I diabetes pathophysiology
|
hyperglycemia --> osmotic diuresis and glycosuria
loss of fluids, electrolytes and calories accelerated lipolysis --> increased fatty acids --> ketone bodies --> metabolic acidosis and Kusmaul respiration --> coma |
|
|
type I diabetes presenattion
|
polyuria
polydipsia polyphagia weight loss 20-40% present with diabetic ketoacidosis |
|
|
type I diabetes diagnosis
|
impaired glucose test --> fasting glucose > 110-126mg/dL OR glucose 125-200mg/dL after 2 hours on glucose tolerance test
diabetes --> symptoms + 2 fasting glucose > 126mg/dL OR 2-hour OGTT > 200mg/dL diabetic ketoacidosis --> hyperglycemia, ketonuria, increased anion gap metabolic acidosis, hyperosmolarity |
|
|
type I diabetes treatment
|
insulin + diet modification + exercise
|
|
|
type 2 diabetes
|
most common cause is childhood obesity
insidious onset of weight gain, fatigue, glycosuria and acanthosis nigrans |
|
|
innocent murmurs
|
are physiologic from 3-7 years
2/6 grade never diastolic lower left sternum |
|
|
diseases associated with VSDs
|
Down
Edward Patau Aperts |
|
|
Eisenmenger syndrome
|
any untreated left to right shunt becomes right to left
cyanosis results from high pulmonary blood flow with hypertrophy of pulmonary vessels and increased pulmonary resistance |
|
|
VSD presentation
|
if large --> dyspnea, feeding difficulties, poor growth, sweating, pulmonary infection, heart failure, harsh holosystolic murmur
|
|
|
VSD diagnosis
|
chest x-ray
ECG echocardiogram is definitive |
|
|
VSD treatment
|
small muscular more likely to close in 1-2 years than membranous
if larger --> medical treatment for heart failure indications for surgery in 1st year --> failure to thrive or failed medical treatment; pulmonary artery hypertension |
|
|
ASD presentation
|
loud S1
wide fixed splitting of S2 systolic ejection murmur along left mid to upper sternum |
|
|
ASD diagnosis
|
chest x-ray --> right enlargement, increased pulmonary vessel markings, edema
ECG --> right axis deviation and minor right ventricular conduction delays echo is definitive |
|
|
ASD treatment
|
most close spontaneously
symptoms do not appear until third decade surgery or transcatheter device closure for all symptomatic patients or 2:1 shunt |
|
|
endocardial cushion defects pathophsysiology
|
ASD and VSD are contiguous with abnormal AV valves
|
|
|
endocardial cushion defects presentation
|
heart failure early in infancy (hepatomegaly and failure to thrive)
Eisenmenger early heart hypertrophy loud S1, widely fixed split S2 pulmonary systolic ejection murmurand low-pitched diastolic rumble at left sternal border and apex |
|
|
endocardial cushion defects diagnosis
|
chest x-ray --> cardiomegaly
ECG --> biventricular hypertrophy, right atrial enlargement, superior QRS axis echo is definitive |
|
|
endocardial cushion defects treatment
|
perform surgical correction in infancy
|
|
|
PDA presentation
|
small --> asymptomatic
large --> heart failure, wide pulse pressure, bounding arterial pulses, machinery murmur |
|
|
PDA diagnosis
|
chest x-ray --> increased pulmonary artery and cardiomegaly
ECG --> left ventricular and biventricular hypertrophy echo --> increased left atrium to aortic root |
|
|
PDA treatment
|
indomethacin or surgery
|
|
|
syndromes with pulmonic stenosis
|
Noonan syndrome --> AD; Turner phenotype + pulmonic stenosis
Alagille syndrome --> arteriohepatic dysplasia |
|
|
pulmonic stenosis presentation
|
heart failure in severe cases in first month of life
right ventricular failure (hepatomegaly, peripheral edema, exercise intolerance) pulmonary ejection click after S1; this is heard less with increasing severity |
|
|
pulmonic stenosis diagnosis
|
ECG --> right ventricular hypertrophy with tall spiked P waves
chest x-ray --> poststenotic dilation of pulmonary artery echo --> best test |
|
|
pulmonic stenosis treatment
|
balloon valvuloplasty
emergent surgery |
|
|
aortic stenosis presentation
|
if severe --> left ventricular failure and decreased cardiac output
early systolic ejection murmur at apex; the more severe can hear it less increasing severity --> decreased pulses, cardiomegaly, left ventricular apical thrust |
|
|
aortic stenosis diagnosis
|
ECG --> left ventricular hypertrophy
chest x-ray --> prominent ascending aorta echo |
|
|
aortic stenosis treatment
|
balloon valvuloplasty
valve surgery valve replacement |
|
|
cardiac associations in Turner
|
preductal coarctation of the aorta and bicuspid aortic valve
|
|
|
adult-type coarctation of the aorta presentation
|
left ventricular hypertrophy
hypertension decreased blood pressure and pulses below constriction (femoral pulses weak or absent) rib notching due to collateral circulation |
|
|
infantile-type coarctation of the aorta presentation
|
PDA allows blood shunted to descending aorta
differential cyanosis of upper and lower body acidosis severe heart failure if PDA closes |
|
|
coarctation of the aorta diagnosis
|
chest x-ray --> infantile: cardiomegaly; adult: rib notching, poststenotic dilation of ascending aorta
ECG --> left ventricular hypertrophy in older children; right ventricular hypertrophy in neonates |
|
|
coarctation of the aorta treatment
|
PGE1 to maintain PDA then surgeryin infantile type
treat heart failure and hypertension then surgery in adult-type |
|
|
postoperative mesenteric arteritis
|
acute hypertension and abdominal pain with or without anorexia, vomitting, hemorrhage, bowel necrosis
treat with nitroprusside, esmolol or captopril with or without intestinal decompression |
|
|
tetralogy of Fallot presentation
|
pulmonary stenosis
VSD overriding aorta right ventricular hypertrophy dyspnea on exertion (squatting increases SVR and directs blood to lungs) paroxysmal cyanotic attacks with gasping, restlessness and syncope |
|
|
paroxysmal cyanotic attack treatment in TOF
|
lateral knee-chest position
O2 subcutaneous morphine beta blockers |
|
|
TOF physical exam
|
systolic thrill along 3-4 intercostal space on left sternal border
loud systolic ejection murmur at upper sternal border single S2 or soft pulmonic component |
|
|
tetrallogy of Fallot diagnosis
|
x-ray --> boot-shaped heart (apex is lifted from diaphragm)
ECG --> right axis deviation plus right ventricular hypertrophy echo is best test |
|
|
tetrallogy of Fallot treatment
|
PGE infusion to promote PDA
palliative systemic to pulmonary shunt then corrective surgery later |
|
|
tricuspid atresia pathophysiology
|
no tricuspid
blood passes to left heart via ASD then to right ventricle via VSD pulmonary blood flow depends on size of VSD |
|
|
tricuspid atresia presentation
|
severe cyanosis at birth
increased left ventricular impulse |
|
|
tricuspid atresia diagnosis
|
x-ray --> pulmonary undercirculation
ECG --> left axis deviation and left ventricular hypertrophy echo is best test |
|
|
tricuspid atresia treatment
|
PGE until aortopulmonary shunt can be performed
atrial balloon septostomy surgical correction later in infancy |
|
|
Ebstein anomaly presentation
|
from maternal lithium use
downward displacement of abnormal tricuspid into ventricle with large right atrium, small right ventricle and ASD with shunt can have severe cyanosis at birth, holosystolic murmur and cardiomegaly |
|
|
Ebstein anomaly diagnosis
|
x-ray --> cardiomegaly
ECG --> tall and broad P waves, RBBB, prolonged PR interval echo is gold standard |
|
|
Ebstein anomaly treatment
|
PGE1
systemic-pulmonary shunt corrective surgery later |
|
|
cyanotic cardiopathies with decreased pulmonary blood flow
|
tetrallogy of Fallot
tricuspid atresia Ebstein anomaly |
|
|
cyanotic cardiopathies with increased pulmonary blood flow
|
transposition of the great vessels
truncus arteriosus |
|
|
transposition of great vessels presentation
|
needs foramen ovale and PDA
cyanosis as PDA closes loud S2 |
|
|
transposition of great vessels diagnosis
|
x-ray --> cardiomegaly
ECG --> normal echo is gold standard |
|
|
transposition of great vessels treatment
|
PGE1
balloon atrial septostomy arterial switch surgery in first 2 weeks |
|
|
truncus arteriosus presentation
|
minimal cyanosis due to high volume of pulmonary flow but can develop Eisenmenger
heart failure |
|
|
truncus arteriosus diagnosis
|
x-ray --> cardiomegaly
ECG --> biventricular hypertrophy echo --> gold standard |
|
|
truncus arteriosus treatment
|
treat heart failure then surgery
|
|
|
total anomalous pulmonary venous return pathophysiology
|
drainage of pulmomary veins into systemic venous circulation
enlarged right atrium, right ventricle and pulmonary artery with small left heart |
|
|
total anomalous pulmonary venous return presentation
|
if obstruction --> severe pulmonary venous congestion, pulmonary hypertension low cardiac output and shock; emergency surgery
no obstruction --> total mixing with left-right shunt; mild cyanosis |
|
|
total anomalous pulmonary venous return diagnosis
|
chest x-ray --> snowman appearance
ECG --> right ventricular hypertrophy and tall spiked P waves echo is gold standard |
|
|
total anomalous pulmonary venous return treatment
|
PGE1 + surgery
|
|
|
hypoplastic left heart syndrome pathophysiology
|
atresia of mitral or aortic valves, left ventricle or ascending aorta --> right ventricle maintains pulmonary and systemic circulation --> pulmonary venous blood passes through ASD with systemic mixing --> ductus arteriosus supplies aorta and coronaries from retrograde flow
|
|
|
hypoplastic left heart syndrome presentation
|
cyanosis
heart failure +- shock cardiomegaly |
|
|
hypoplastic left heart syndrome diagnosis
|
x-ray --> cardiomegaly + increased pulmonary blood flow
ECG --> right ventricular hypertrophy and right atrial enlargement with decreased left-heart forces echo is gold standard |
|
|
hypoplastic left heart syndrome treatment
|
do nothing if associated malformations are incompatible with life or
surgical correction |
|
|
pulmonary insufficiency
|
decrescendo diastolic murmur
expected result of surgery from right ventricular outflow obstructions x-ray --> large pulmonary artery ECG --> normal echo is gold standard |
|
|
mitral insufficiency presentation
|
increased left atrium, left hypertrophy with dilation, increased pulmonary venous pressure
high-pitched holosystolic murmur at apex |
|
|
mitral insufficiency diagnosis
|
x-ray --> increased left atrial size
ECG --> left ventricular hypertrophy echo is gold standard |
|
|
mitral prolapse presentation
|
chest pain
palpitations arrhythmias apical late systolic murmur with pre-sistolic click associated with Marfan |
|
|
mitral prolapse diagnosis
|
x-ray --> normal
ECG --> may have biphasic T-waves echo is gold standard |
|
|
mitral prolapse treatment
|
no therapy necessary
if associated with mitral insuficiency --> endocarditis prophylaxis |
|
|
tricuspid insufficiency
|
associated with Ebstein anomaly
right ventricular dysfunction perinatal asphyxia in neonate |
|
|
infective endocarditis etiology
|
staph if not valve problems
strep viridians if valve problems or dental procedures group D strep after bowel or GU manipulation coagulase negative staph after indwelling catheters |
|
|
cardiac lesions that predispose to infective endocarditis
|
VSD, TOF, aortic stenosis, PDA
congenital bicuspid aortic valve, mitral prolapse valve replacement |
|
|
infective endocarditis presentation
|
prolonged intermittent fever
weight loss fatigue myalgia arthralgia new or changing murmur splenomegaly petechiae embolic stroke painful Osler nodes painless Janeway lesions splinter hemorrhages roth retinal exudates |
|
|
infective endocarditis diagnosis criteria
|
2 + 3 or 1 + 5
major --> positive blood culture (two separate); echocardiogram evidence minor --> predisposing condition, fever, emboli, immune complex disease, single positive blood culture |
|
|
endocarditis prophylaxis
|
dental/esophageal procedures --> amoxi
high risk GI or GU (prosthetic valves, previous endocarditis, heart disease, pulmonary shunts) --> ampi + gentamicin moderate risk GI or GU(acquired valve disease, hypertrophic subaortic stenosis, mitral prolapse with regurgitation) --> amoxi or ampi allergic --> clindamycin, ceph, macrolide |
|
|
prophylaxis not recommended for infective endocarditis
|
ASD isolated secundum
surgical repair of ASD, VSD, PDA coronary bypass mitral prolapse without regurgitation or thick valves Kawasaki theumatic fever without valve dysfunction pacemakers |
|
|
rheumatic fever presentation and diagnosis
|
microbiological or serologic evidence of GAS infection;
majora criteria --> carditis, migratory polyarthritis, erythema marginatum, Sydenhams chorea, subcutaneous nodules minor criteria --> fever, arthralgia, high ESR, prolonged PR |
|
|
rheumatic fever treatment
|
penicillin for GAS infection
antinflammatory --> once arthritis is confirmed to be migratory and no CHF give high dose aspirin if CHF --> prednisone then taper and aspirin + digoxin if chorea --> phenobarbital if carditis --> IM benzathine penicillin monthly for life prophylaxis |
|
|
causes of dilated cardiomyopathy
|
MCC idiopathic
nonviral infections hypothyroidism storage diseases connective tissue disease muscular dystrophies |
|
|
dilated cardiomyopathy presentation
|
heart failure signs
tachycardia decreased pulse pressure pale skin increased jugular venous pressure hepatomegaly edema rales cardiomegaly gallop rhythm AV valve insufficiency |
|
|
dilated cardiomyopathy diagnosis
|
x-ray --> cardiomegaly, pulmonary congestion
ECG --> atrial enlargement, left/right ventricular enlargement echo --> dilation |
|
|
dilated cardiomyopathy prognosis
|
progressive worsening with relapses, emboli, ventricular arrhythmias
|
|
|
dilated cardiomyopathy treatment
|
antiarrhythmics
implantable cardioverter/defibrillator systemic anticoagulation beta blocker trial of carnitine heart transplant referral |
|
|
hypertrophic cardiomyopathy presentation
|
weakness
dyspnea on exertion palpitations angina dizziness syncope |
|
|
hypertrophic cardiomyopathy diagnosis
|
x-ray --> mild cardiomegaly
ECG --> left ventricular hypertrophy +- ST depression and T wave inversion echo --> mostly septal left ventricular hypertrophy |
|
|
hypertrophic cardiomyopathy treatment
|
no sports or streneous exercise
digoxin and diuretics are contraindicated beta blockers or CCBs are indicated |
|
|
restrictive cardiomyopathy presentation
|
dyspnea
edema ascites hepatomegaly increased venous pressure pulmonary congestion cardiomegaly |
|
|
restrictive cardiomyopathy etiology
|
sarcoidosis
scleroderma amyloidosis mucopolysaccharidoses malignancy |
|
|
restrictive cardiomyopathy diagnosis
|
x-ray --> mild to moderate increase in heart size
ECG --> prominent P waves, low QRS voltage +- ST depression echo --> increased atrial size, abnormal filling by Doppler |
|
|
restrictive cardiomyopathy treatment
|
relieve heart failure
CCBs to increase filling antiarrhythmics ICD transplant |
|
|
myocarditis etiology
|
MCC is coxsackie B and adenovirus
diptheria, Rocky Mountain connective tissue disease granulomatous disease toxins idiopathic |
|
|
myocarditis presentation
|
left heart failure, arrhythmia, sudden death
fever, respiratory distress, shock, distant heart sounds mitral insuficiency, gallop fever + cardiomegaly + arrhythmia |
|
|
myocarditis diagnosis
|
supported by --> high ESR and CK-MB, may need biopsy during catheterizaation
x-ray --> cardiomegaly and pulmonary edema ECG --> sinus tachycardia, decreased QRS voltage echo --> poor ventricular function |
|
|
endocardial fibroelastosis
|
bright endocardial surface on echo due to fibroelastic thickening in left ventricle and valves
presents with variable congestive heart failure |
|
|
pericarditis etiology
|
MCC is viral: coxsackie B, adeno, influenza, echo
purulent --> bacteria acute rheumatic fever lupus uremia juvenile rheumatoid arthritis neoplasia - Hodgkin, leukemia |
|
|
cardiac tamponade
|
pulsus paradoxus (drop in BP > 20 during inspiration in child with pericarditis
|
|
|
pericarditis presentation
|
sharp stabbing precordial pain worsens in supine and better leaning forward
cough, dyspnea, abdominal pain, vomit friction rub, muffled heart sounds |
|
|
pericarditis diagnosis
|
x-ray --> water bottle appearance
ECG --> low voltage QRS, mildly elevated ST, generalized T-wave inversion echo --> echo-free space between epicardium and pericardium |
|
|
hypertension causes
|
most causes are renal
UTIs acute glomerulonephritis Henoch-Schonlein HUS acute tubular necrosis leukemia renal artery stenosis |
|
|
hypertension diagnosis
|
screen --> CBC, urinalysis, urine culture, electrolytes, glucose, BUN, creatinine, calcium, uric acid, lipids
echo to check if chronic (left hypertrophy) renal ultrasound angiography |
|
|
allergic rhinitis presentation
|
nasal congestion and pruritus
worse at night with snoring mouth breathing watery itchy eyes headache allergic shiners conjunctival injection and chemosis transverse nasal crease pale nasal mucosa |
|
|
allergic rhinitis differential diagnosis
|
nonallergic inflammatory rhinitis (no IgE)
vasomotor rhinitis (physical stimulus) nasal polyps (CF) overuse of topical vasoconstrictors |
|
|
differential diagnosis of eosinophilia
|
neoplasms
asthma allergy Addison vasculitis parasites |
|
|
allergic rhinitis diagnosis
|
peripheral and/or nasal/bronchial eosinophilia
high IgE radioallergosorbent testing (RAST) skin test |
|
|
allergic rhinitis treatment
|
most effective --> removal of allergens
first line drugs --> antihistamines 2nd line --> add intranasal steroids others --> cromolyn, phenylephrine, epinephrine immunotherapy --> desensitization |
|
|
allergic rhinitis complications
|
chronic sinusitis
asthma eustachian tube obstruction (middle ear infections) tonsil/adenoid hypertrophy |
|
|
ocular allergy
|
itchy eyes, bilateral chemosis
may have atopic dermatitis, asthma, rhinitis treatment --> first line: eyedrops, cold compress; 2nd line: antihistamine + vasoconstrictor combo |
|
|
insect venom presentation
|
local swelling, urticaria, angioedema, pruritus, anaphylaxis
delayed response --> serum sickness, nephrotic syndrome, vasculitis |
|
|
insect venom treatment
|
remove stingers by scraping
if anaphylaxis --> epi pen indication for venom immunotherapy --> severe reaction with + skin tests |
|
|
food allergy presentation
|
most common allergens --> egg, milk, peanuts, nuts, fish, soy, wheat
MCC of anaphylaxis skin --> urticaria, angioedema, atopic dermatitis GI --> vomit, diarrhea, pain, eosinophilic gastroenteritis respiratory --> wheezing, asthma CV --> hypotension |
|
|
food allergy diagnosis and treatment
|
establish food and amount eaten, timing and nature of reaction
RAST skin test for IgE allergies treatment --> elimination of food; epi pen for attack |
|
|
urticaria and angioedema presentation
|
IgE-mediated --> activation of skin mast cells by systemically absorbed allergen
non-IgE-mediated with stimulation of mast cells --> radiocontrast agents, viral agents hereditary angioedema --> AD, C1 esterase inhibitor deficiency, recurrent non-pitting edema |
|
|
urticaria and angioedema diagnosis and treatment
|
diagnosis --> clinical; skin tests and RAST may help
treatment --> avoidance of trigger; epi + steroid; H1 + H2 |
|
|
atopic dermatitis presentation
|
intense pruritus with scratching, lesions and excoriations
acute --> erythematous intensely pruritic excoriations with serous exudate subacute --> erythematous, excoriated, scaling papules chronic --> lichenification complication --> Kaposi varicelliform eruption |
|
|
atopic dermatitis treatment
|
eliminate causative factors
cutaneous hydration with hydrophilic ointments/emollient + topical steroids (don’t use high potency on face) topical immunomdulators --> tacrolimus (safe on face) systemic --> antihistamines, glucocorticoids, cyclosporine, interferon gamma |
|
|
contact dermatitis
|
type IV delayed reaction
diagnosis --> clinical treatment --> supportive |
|
|
initial screening for recurrent infections
|
CBC
manual differential platelet count smear |
|
|
screening for B-cell defects
|
Ig levels
isohemaglutinins (measures mostly IgM) tetanus and diptheria IgG levels (response to protein antigens) pneumococcus and H. Influenza IgG levels (response to polysacchride antigens) |
|
|
T-cell defect screening
|
absolute lymhpcyte count
candida albicans intradermal skin test - best test |
|
|
phagocytic defects screening
|
absolute neutrophil count
respiratory burst assay |
|
|
complement deficiency screening
|
CH50 (total hemolytic complement) - measures any complement consumption
individual complement assays |
|
|
associated infections to antibody deficiency
|
encapsulated bacteria
|
|
|
associated infections to phagocyte deficiency
|
recurrent catalase(+) infections (staph and others)
enteroviral infections to coxsackie A/B, echovirus |
|
|
associated indections to T-cell deficiency
|
opportunistic
failure to thrive bronchiectasis |
|
|
associated infections to killing defects
|
recurrent staph abscess
gram- infections |
|
|
definitive test for agammaglobulinemia
|
B-cell count by flow cytometry to CD19, CD20
|
|
|
definitive test for T-cell deficiency
|
T-cell count by flow cytometry to CD2, CD3, CD4, CD8
assess T-cell function with mitogen stimulation tests (measures cytokine production) |
|
|
definitive test for phagocytic defects
|
neutrophil respiratory burst has replaced nitroblue tetrazolium
|
|
|
associated infections in complement deficiency
|
recurrent neisseria infections
|
|
|
defects in antibody production diseases
|
Bruton agammaglobulinemia
common variable immunodeficiency selective IgA deficiency transient hypogammaglobulinemia of infancy IgG subclass deficiency |
|
|
Bruton agammaglobulinemia
|
X-linked deficiency of Bruton tyrosine kinase
recurrent pneomococcus, H. influenza, mycoplasma hepatitis and enterovirus infections after 6-9 months in baby boys lymphoid hypoplasia decreased Igs absence of circulating B-cells by flow cytometry treat with monthly IVIg and antibiotics |
|
|
common variable immunodeficiency
|
hypogammaglobulinemia with B-cells present
recurrent pneomococcus, H. influenza, mycoplasma hepatitis and enterovirus infections later in age in both sexes normal lymphoid tissue autoantibodies risk of lymphomas in 5th-6th decade |
|
|
selective IgA deficiency
|
recurrent URIs
hiher incidence of autimmune disease and malignancies serum antibodies to IgA (anphylactic reactions to IV IgA) |
|
|
transient hypogammaglobulinemia of infancy
|
low IgGs at 3-4 months - physiologic
if persists > 6 months has disease but most normalize at 11 months increased otitis media and sinusitis infections |
|
|
igG sublass deficiency
|
normal or increased total IgG but deficiency of 1 or more classes
no IVIg needed |
|
|
DiGeorge
|
no development of 3rd and 4th pharyngeal pouches
absent thymus (no T-cells), parathyroids (seizures and tetany), aortic and cardiomyopathies (ASD, VSD) widely spaced eyes, fish mouth, low set ears low absolute lymphcyte count opportunistic infections treatment --> thymic tissue transplant from MHC-compatible sibling |
|
|
CATCH-22 syndromes
|
chromosome 22 microdeletions
DiGeorge, velocardial-facial syndrome, conotruncal anomaly face syndrome Cardiac, Abnormal faces, Thymic hypoplasia, Cleft palate, Hypocalcemia |
|
|
severe combined immunodeficiency
|
X-linked or adenine deaminase defiency
diarrhea, pneumonia, otitis media, sepsis, cutaneous infections, wasting, opportunistic infections, lymphopenia, no mitogen response, no thymus or lymphoid tissue, no Igs treatment --> bone marrow transplant or death by 1 year |
|
|
Wiskott-Aldrich syndrome
|
low IgM
recurrent infections thrombocytopenia eczema X-linked T and B cell deficiencies prolonged bleeding from circumcision is first sign treat --> bone marrow transplant |
|
|
ataxia-telangiectasia
|
decreased CD3 and CD4
mask-like facies, tics, drooling, irregular eye movements progressive cerebellar ataxia from 6 months to wheelchair at 10-12 y/o telangiectasias recurrent URIs |
|
|
chronic granulomatous disease
|
X-linked and autosomal recessive
suspect if prolonged detachment of umbilical cord can't kill catalase(+) (staph, aspergillus, candida, salmonella) recurrent lymphadenitis, pneumonia, skin infections osteomyelitisnitroblue tetrazolium test replaced by flow cytometry treatment --> bone marrow transplant and daily TMP-SMZ |
|
|
leukocyte adhesion deficiency
|
recurrent infections with chronic ulcers and no pus formation
diagnosis --> flow cytometry of surface CD11b treatment --> bone marrow transplant |
|
|
Chediak-Higashi syndrome
|
recurrent infections, bleeding, albinism
progressive peripheral neuropathy lymphomas diagnosis --> large inclusions seen in all nucleated RBCs treatment --> high-dose ascorbate; cure --> bone marrow transplant |
|
|
juvenile rheumatoid arthritis presentation
|
morning stiffness
easy fatigability joint pain joint swelling warm joint but no redness <16 years old duration >= 6 weeks 3 types |
|
|
juvenile rheumatoid arthritis differential
|
SLE
rheumatic fever Lyme leukemia lymphoma juvenile dermatomyositis sarcoidosis scleroderma vasculitis psoriasis IBD |
|
|
types of juvenile rheumatoid arthritis
|
pauciarticular --> fewer than 5 joints
polyarticular --> >5 joints, resembles adult systemic --> hepatosplenomegaly, lymphadenopathy, serositis, iritis, temperature spikes, salmon-colored rash |
|
|
juvenile rheumatoid arthritis diagnosis and labs
|
diagnosis of exclusion
ANAs may be present RF(+) with polyarticular type |
|
|
juvenile rheumatoid arthritis treatment
|
pauciarticular --> NSAIDs +- methotrexate, sulfazalazine, azathioprine, cyclophosphamide
steroids if overwhelming inflammation and systemic illness opthalmologic follow-up |
|
|
juvenile rheumatoid arthritis prognosis
|
RF(+) --> poor prognosis
ANA(+) --> good/excellent prognosis |
|
|
pregnant woman with SLE
|
IgG are transferred transplacenta with permanent heart block in the fetus and other temporary findings
|
|
|
SLE presentation
|
usually after 8 years old
fever fatigue arthralgia malar rash anemia photosensitivity ANA(+) serositis discoid rash neurologic, hematologic, immunologic and renal disorders |
|
|
SLE labs
|
best screen --> ANA
best test --> anti-dsDNA (disease activity) most specific --> anti-Smith |
|
|
SLE treatment
|
NSAIDs if no renal disease
steroids for kidney disease hydroxychloroquine for mild disease cyclophosphamide for severe disease |
|
|
kawasaki diagnostic criteria
|
fever > 5 days plus 4 -->
bilateral conjunctivitis strawberry tongue erythema and swelling of hands and feet rash cervical lymphadenitis |
|
|
kawasaki work-up
|
upon suspicion --> echo for coronary artery aneurysms
reapeat echo at 2-3 weeks and if normal at 6-8 weeks CBC --> leukocytosis, thrombocytosis ESR PCR urinalysis --> sterile pyuria CSF pleocytosis |
|
|
kawasaki treatment
|
IV Ig
high-dose aspirin add warfarin if severe thrombocytosis |
|
|
henoch-schonlein purpura
|
low-grade fever
rash below waist --> maculopapular --> petechiae --> purpura GI pain, blood in stools, diarrhea, intuscuception glomerulonephritis increased IgA treatment --> symptomatic +- corticosteroids for GI +- aspirin APL antibodies |
|
|
neural tube defects
|
spina bifida
tethered cord meningocele myelomeningocele |
|
|
spina bifida occulta
|
no protrussionof neural tissue
asymptomatic overlying patch of hair, lipoma, dermal sinus |
|
|
meningocele
|
meninges herniate through defect in posterior vertebral arches
fluctuant midline mass covered with skin transilluminates MRI and then CT of head for hydrocephalus surgical correction |
|
|
myelomeningocele
|
sacral lesions --> bowel/bladder incontinence, perineal anesthesia, no motor impairment
lumbar lesions --> flaccid paralysis, thermoalgesic loss, urinary dribbling 80% associated with hydrocephalus; type I Chiari do MRI and CT of head for hydrocephalus surgical correction |
|
|
Chiari malformation
|
type I --> cerebral tonsils into cervical canal, no hydrocephalus, headache and neck pain, urinary frequency
type II --> progressive hydrocephalus + myelomeningocele |
|
|
Dandy-Walker
|
cystic expansion of fourth ventricle
agenesis of posterior cerebellar vermis increased head size, prominent occiput, cerebellar ataxia |
|
|
hydrocephalus
|
increased head circumference
bulging anterior fontanel headache papilledema sixth nerve palsy |
|
|
febrile seizures
|
when temperature increases rapidly >39 celsius
generalized tonic-clonic, ~10-15 minutes with brief postictal period work-up --> determine cause of fever and rule out meningitis no routine labs, no EEG, no neuroimaging treatment --> control fevers |
|
|
simple partial seizures
|
asynchronous tonic or clonic movements for 10-20 seconds; no postictal period
EEG --> spike and sharp waves or multifocal spikes treatment --> carbamazepine, phenytoin; levetiracetam |
|
|
partial complex seizures
|
tonic or clonic movements with impaired consciousness
automatisms --> lip-smacking, chewing, swallowing interictal EEG --> anterior temporal lobe --> sharp waves, focal spikes MRI --> abnormalities in temporal lobe treatment --> carbamazapine |
|
|
absence seizures
|
generalized; cessation of movement, speech and blank stare; no postictal period
EEG --> 3Hz spikes + generalized wave discharge treatment --> ethosuximide, valproic acid |
|
|
tonic clonic seizures
|
generalized; loss of consciousness, tongue bitting, relaxation of sphincters
postictal --> semicoma, disoriented, vomiting, headache treatment --> valproic acid, phenobarbital, phenytoin, carbamazepine |
|
|
neurofibromatosis 1
|
von Recklinghousen; chromosome 17
café-au-lait spots iris Lisch nodules neurofibromas axillary/inguinal freckles optic glioma |
|
|
neurofibromatosis 1 complications
|
gliomas
astrocytomas neurofibrosarcoma stroke seizures cognitive defects |
|
|
neurofibromatosis 2
|
chromosome 22
bilateral acoustic neuromas hearing loss headache associated neurofibroma, glioma, meningioma |
|
|
tuberous sclerosis
|
CNS tubers in cerebral convolutions seen on CT
calcifications --> ventricular cavities --> hydrocephalus infantile spasms skin lesions retinal lesions heart rhabdomyoma kidney hamartoma or polycystic kidneys treat seizures |
|
|
Sturge-Weber presentation
|
facial nevus
seizures contralateral hemiparesis intracranial calcifications mental retardation ipsilateral glaucoma |
|
|
Sturge-Weber diagnosis
|
skull x-ray --> occipital-parietal calcifications
CT --> unilateral cortical atrophy and hydrocephalus ex-vacuo increased intraocular pressure |
|
|
Friedrich ataxia
|
autosomal recessive
ataxia before 10 years no DTRs babinski loss of posterior columns dysarthria hypertrophic cardiomyopathy |
|
|
Marie-Charcot-Tooth presentation
|
disease of peroneal and tibial nerves with peroneal muscle atrophy
clumsyness falls foot drop atrophy of muscles of anterior leg compartment claw hand slowly progressive |
|
|
Marie-Charcot-Tooth diagnosis
|
decreased nerve conduction velocities
normal CPK sural nerve biopsy is cofirmation |
|
|
Marie-Charcot-Tooth treatment
|
stabilize ankles
surgical correction |
|
|
iron-deficiency anemia
|
due to consumption of cow milk and foods low in iron
pallor is most common sign plus general anemia signs treatment --> oral ferrous salts prevention --> iron-rich foods |
|
|
lead poisoning presentation
|
behavioral changes --> hyperactivity or aggresion
cognitive dysfunction GI --> anorexia, pain, constipation CNS --> cerebral edema, increased intracraneal pressure |
|
|
lead poisoning diagnosis and treatment
|
blood lead level at 12 and 24 months
x-rays --> dense lead lines in bones treatment --> iron chelators --> dimecarpol, EDTA |
|
|
congenital anemias
|
pure red cell --> Blackfan-Diamond --> triphalangeal thumbs --> low reticulocytes --> steroids --> stem cell transplant
pancytopenia --> Fanconi --> absent/hypoplastic thumbs --> bone-marrow aspiration/chromosome analysis --> steroids/transplant |
|
|
types of sickle cell crises
|
hand-foot syndrome
acute painful crisis --> head, chest, back, abdomen aplastic crisis --> parvoB19 --> absence of reticulocytes vaso-occlusive crisis --> skin ulcers, retinopathy, avascular necrosis of femoral head, splenic infarction, salmonella osteomyelitis, stroke, priapism |
|
|
immune thrombocytopenic purpura treatment
|
transfussion contraindicated
IV Ig if inadequate response --> prednisone if severe --> splenectomy |
|
|
ALL presentation
|
arthritis
bone pain marrow failure --> pallor, bruising, epistaxis, petechiae, lymphadenopathy, hepatosplenomegaly |
|
|
ALL diagnosis
|
best test --> marrow aspirate --> lymphoblasts
peripheral blood --> anemia, thrombocytopenia, atypical lymphocytes |
|
|
ALL treatment
|
remission induction --> vincristine, daunorubicin, prednisone
CNS --> methotrexate |
|
|
ALL complications
|
relapse --> increased intracraneal pressure or branial nerve palsies
testicular relapse tumor lysis syndrome --> hyperuricemia, hyperkalemia, hypophosphatemia, hypocalcemia |
|
|
wilms tumor
|
palpable mass, aniridia, GU anomalies
diagnosis --> abdominal CT; chest x-ray for lung involvement treatment --> surgery |
|
|
neuroblastoma
|
from neural crest cells --> abdominal, adrenal or retroperitoneal
firm painful palpable mass in flank or midline with calcifications or hemorrhage diagnosis --> x-ray/CT/MRI; high vanillylmandelic acid, homovanillic acid, no hypertension treatment --> surgery +- chemo +- radiation |
|
|
pheochromocytoma
|
adrenal medulla or along sympathetic chain
autosomal dominant associated with --> neurofibromatosis, MEN 2A, MEN 2B, tuberous sclerosis, Sturge-Weber presentation --> episodic hypertension, adrenergic signs, papilledema, hemorrhages diagnosis --> CT; vanillmandelic acid, metanephrines, catecholamines; MBIG scan treatment --> alpha/beta blockade + fluids --> surgery |
|
|
meningitis etiology by age
|
neonates --> GBS, e coli, listeria
2 months - 12 years --> pneumococus, meningococus, HiB (uncommon due to vaccine) |
|
|
meningitis presentation
|
fever, lethargy, irritability, anorexia, nausea
photophobia, neck pain and rigidity increased intracraneal pressure --> bulging fontannelles, CN III or VI palsy Kernig, Brudzinski |
|
|
meningitis diagnosis
|
lumbar puncture + blood culture
|
|
|
meningitis treatment
|
empiric --> vanco + ceftriaxone
pneumococus --> penicillin or 3rd gen ceph meningococus --> penicillin E. coli --> ceftriaxone IV dexamethasone |
|
|
pertussis
|
presentation --> paroxysmal cough with inspiratory whoop and facial petechiae
diagnosis --> clinical; unvaccinated; gold standard is culture or PCR; lymphocytosis treatment --> erythromycin; also treat all household members and contacts |
|
|
bartonella
|
cat-scratch disease
scratch + papules + chronic regional lymphadenitis + nonspecific signs diagnosis --> history, PCR, serology treatment --> self-limiting |
|
|
parinaud oculoglandular syndrome
|
unilateral conjunctivitis
preauricular lymphadenopathy cervical lymphadenopathy after rubbing eyes after touching pet |
|
|
measles
|
presentation --> cough, coryza, conjunctivitis, Koplik spots, rash, fever +- cervical lymphadenopathy
diagnosis --> clinical treatment --> supportive, vitamin A complications --> otitis media, pneumonia, encephalitis |
|
|
rubella
|
maculopapular rash + posterior cervical lymphadenopathy +- polyarthritis
diagnosis --> clinical with serology confirmation treatment --> supportive |
|
|
roseola
|
exanthema subitum due to HHV-6
high fever preceeding rash + rose-colored papules on trunk + occipital lymphadenopathy clinical diagnosis and supportive treatment |
|
|
mumps
|
presentation --> unilateral or bilateral salivary gland swelling, arthritis, orchitis with sterility
diagnosis --> clinical; IgG and IgM confirms; high amylase treatment --> supportive |
|
|
varicella
|
presentation --> pruritic rash in various stages with crops
clinical diagnosis with supportive treatment |
|
|
erythema infectiosum
|
parvoB19
presentation --> arthritis, slapped cheek rash, reticular rash clinical diagnosis with supportive treatment complications --> aplastic crisis; erythroblastosis fetalis in neonates |
|
|
EBV
|
presentation --> fatigue, pharyngitis, generalized adenopathy, nonspecific symptoms, Burkitt lymphoma, nasopharyngeal carcinoma
diagnosis --> atypical lymphocytosis, heterophile antibodies, IgM to capsid antigen treatment --> symptomatic +- steroids; no contact sports complications --> splenic rupture |
|
|
influenza
|
presentation --> coryza, conjunctivits, pharyngitis, dry cough, systemic signs
diagnosis --> rapid ELISA treatment --> symptomatic complications --> otitis media, pneumonia, secondary bacterial infection |
|
|
ascariasis
|
presentation --> asymptomatic or cough and blood-stained sputum
diagnosis --> fecal smear and eosinophilia treatment --> albendazole |
