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  1. Turner's Syndrome
    • XO genotype
    • hypogodnadism, primary amenorrhea early ovarian failure
    • short stature, webbed neck, prominent ears
    • dx with karyotyping
    • Tx estrogen/progesteron
  2. Klinefelter's syndrome
    • Males with XXY genotype
    • hypogodnadism small testies
    • tall stature small limbed
  3. Fragile X
    • x-linked genetic disorder MC gene related to autism
    • mitral valve prolapse in younger males
    • long narrow face, prominent forehead
  4. down syndrome trisomy 21
    • 3 copies of long arm of 21 chromosomelow-set small ears
    • transverse singular simian crease on palm
    • poor moro reflex
    • congenital heart disease--ASD/VSD
  5. Ehlers Danlos Syndrome
    • genetic disorder of collagen synthesis
    • ruptured aneurysms is morbidity
    • skin hyperextensibility
    • fragile connective tissue mitral prolapse
    • joint hypermobility
  6. Marfan Syndrome
    • systemic connective tissue disease
    • mitral valve prolapse, aortic dissection
    • tall stature, pectus carinatum
    • Occular--ectopia lentis
  7. Neural Tube Defects
    • maternal folate deficiency (methotrexate, valproic acid, phenytoin)
    • spinal bifida
    • myelomeningocele--spinal cord herniates through opening
  8. Barlow Maneuver
    posterior pressure on adducted flexed hip--positive if dislocated
  9. Ortolani Maneuver
    abduct flexed hips with palpation on greater trochanter feel for spasm or clunk
  10. Still's Murmur
    • MC innocent murmur
    • early to mid systolic musical vibratory high pitched, loudest in left lower sternal border--diminishes with valsalva
  11. Venous Hum
    • 2nd most common innocent murmur
    • harsh ejection mumur heard on upper left sternal border
    • valsalve accentuates murmur
  12. pulmonary ejection murmur
    best heard in 2nd left intercostal space
  13. Laryngeotracheitis (croup)
    • MC in 6mo-6yrs bc of viral infection (parainfluenza virus)
    • barking cough, seal like, stridor, hoarsness, dyspnea (worse at night)
    • Steeple sign on x-ray
    • Tx; humidified cool air, corticosteroids, nebulized epi in severe cases
  14. Acute epiglottitis
    • medical emergency
    • MC etiology haemophilus influenza (Hib)
    • 3 D's drooling, distress, dysphagia
    • Dx: laryngoscopy, thumbprint sign on lateral xray
    • Tx: airway management, ABX 2nd/3rd gen cephlosporins
  15. Pertussis
    • contagious infection from Bordetell pertussis
    • catarrheal phase--URI symptoms 1-2wks
    • paroxysmal phase--coughing fits 6 weeks
    • convalescent phase--resolving of cough
    • sequla--PMN
    • ABX decreases spreading but doesn't affect prognosis--erythromycin or Bactrim
  16. Cystic Fibrosis
    • deficiency of CL transport across cell membrane--water out of cells
    • thinck mucous in lungs
    • meconium ileus at birth
    • Dx: Chloride sweat test (lick the baby)
    • bronchiectasis, hyperinflation of lungs
    • pseudomonas
    • Tx: airway management, enzyme replacement
  17. Illeus meconium causes
    • CF
    • Hirshprung
    • Imperforate anus
  18. Kawasaki syndrome
    • MC vasculitis in children < 5yrs old
    • warm CREAM --> fever +
    • Conjunctivitis
    • Rash
    • Extremity changes--Beu's lines (transverse nail grooves)
    • Adenopathy
    • Mucous membrane--strawberry tongue
    • Complications --> MI
    • Tx: IVIG
  19. Coxsackie virus
    • Hand, foot mouth disease
    • rash on palms, vesicular lesions on erythematous base, stomatitis on soft palte
    • pleuritic chest pain with B type and pericarditis is MC sequala
    • Tx: supportive fluids
  20. DDx for rashes on soles, palms
    Coxsackie, RMSF, Syphilis, Kawasaki, Rubeola (Measles), Toxic Shock Syndrome
  21. Vaccine Contraindications
    • Hep b -- yeast "baker's yeast"
    • Eggs--influenza
    • Gelatin--varicella influenza
    • Pregnancy--ok to give diphtheria, tetanus, flu, HBV
  22. Acetaminophen OD
    • hepatic necrosis, RUQ pain, jaundice
    • Dx: LFTs, PT/PTT/INR, UA ECG
    • Tx: N-acetylcysteine and activated charcol
  23. Salicylates OD
    • respiratory alkalosis-->metabolic acidosis
    • hypokalemia
    • Tx: activated charcol
  24. Bases toxicity
    • respiratory distress
    • Dx: EGD to asses damage
    • Tx: emesis prevention, small water or milk
  25. Hydrocarbons toxicity
    • aspiration pneumonitis
    • Dx: UA, ECG, CXR (effusion)
    • Tx: Abx if PNA, supportive, emesis prevention
  26. Anticholinergics toxicity
    • hyperthermia, tachycardia, hot flushed dry skin, mydriasis
    • Dx: wide QRS, prolonged QT, Na channel clocking
    • Tx: activated charcoal, physiostigmine, sodium bicarbonate
  27. Cholinergic toxicity
    • salivation, lacrimation, diarrhea, emesis, miosis
    • Dx: RBC cholinesterase levels, serum glucose
    • Tx: atropine + prlidoxime
  28. Iron toxicity
    • NV abd pain
    • Dx: UA, LFTs, RBC, metabolic acidosis
    • Tx: emesis & gastric lavage, Desferoxamine
  29. Lead poisoning
    • acquired sideroblastic anemia MC in children
    • Dx: microcytic hypochromic anemia w/ basophilic stippling & ringed sideroblasts in bone marrow x-ray--lead lines and line in gums
    • Tx: chelation therapy and remove lead exposure
  30. Jaundice
    • yellowing of skin and scalera
    • Crigler Najjar syndrome--requires phototherapy
    • Dx: increased indirect billi with normal LFTs
  31. ASD
    • MC in ostium secundum
    • asymptomatic
    • systolic crescendo-decrescendo murmur in pumonic area with widely splitting S2
    • dx: ekg incomplete RBBB
    • Tx: surgery or spontaneous correction
  32. PDA
    • communication between aorta and pulmonic artery
    • asymptomatic
    • Eisenmenger's syndrome--Pl HTN causes R-->L shunt-->hypoxia
    • Continious machinery murmur loudest in pulmonic
    • wide pulse pressue and bounding peripheral pulses
    • Tx: indomethacin if preterm
  33. Coarctation of aorta
    • 2ndary HTN, claudication, failure to thrive
    • systolic murmur that radiates to back/scapula
    • increased BP in upper extremities
    • delayed femoral pulse
    • Dx: angiogram is gold standard
    • CXR--rib notching 3 sign
    • Tx: ballon angioplasty
  34. ToF
    • pulmonary HTN
    • RVH
    • VSD
    • overriding aorta
    • R-->L shunting
    • Tet spells--cyanotic episodes--resolve with squatting
    • Harsh holosystolic murmur at left sternal border
    • CXR--boot shaped heart
    • Tx: surgery
  35. Acute bronchiolitis
    • MC cause is RSV, lower respiratory tract infection
    • infants and smoking are risk factors
    • fever, URI--> respiratory distress and wheezing
    • dx: peribronchial cuffing, pulse Ox in children < 96%
    • Tx: supportive humidified O2 Corticosteroids if asthma, Ribavirin if immunocompromised
    • Complication is otitis media and strep pneumo
  36. Infant Respiratory Distress Syndrom
    • MC cause of death in 1st month of life
    • decrease in surfactant production
    • tachypnea, tachycardia, chestwall retractions, grunting and nasal flaring
    • CXR: bilateral diffuse ground-glass oapcities and air rbonchograms
    • Tx: exogenous surfactant and steroids
  37. Pyloric stenosis
    • hypertrophy of pylorus
    • MC cause of obstruction in infancy Mc in 3-12 weeks of life
    • vomitin/regurgitation
    • olive shaped mobile hard pyloris
    • Dx: US mc test, upper GI "string sign"
    • Tx: pyloromyotomy
  38. Hirschsprung's disease
    • congenital abscense of ganglion cells in distal colon
    • obstruction
    • Dx: abd x-ray shows obstruction, rectal biopsy is definitive
    • Tx: resection of affected bowel
  39. Erythem toxicum
    • immune activation see in 70% of neonates
    • erythematous papules pustules 3-5 days after birth--sparring palms and soles
    • Tx: resolves in 1-2 weeks
  40. Miliaria
    • bloackage of sweat glands causeing secreation into epidermis and dermis
    • crystalline
    • rubra
    • profunda
  41. Milia
    • white-yellow papules on cheeks, forehead, chin and nose
    • Tx: resolve after 1 month but can last up to 3
  42. Varicella
    • different stages simultanesouly
    • vesicles on erythematous base like dew drops on rose petal
    • not palms or soles
  43. Variola small pox
    • Same stage simultaneously
    • vesicles, pustules, scars
    • classically involves palms and soles
  44. Rubeola
    • measles
    • cough, coryza, conjunctivitis
    • brick red rash beginning at hairline and moving towards extremities
    • lasts 7 days
    • Koplik spots on buccal mucosa
    • otitis media Mc long term sequale
  45. Rubella
    • german measles
    • pink-light red rash spotted on face and extremities
    • lasts 3 days
    • photosensitivity, arthralgias
    • teratogenic ToARCH
  46. Roseola
    • 6th disease
    • child is well appearing with high fever
    • starts on trunk and "blooms" to extremities
    • association with HHV6 and HHV7
  47. Erythema Infectiosum
    • 5th disease
    • slapped cheek appearance on face lacy reticular rash on body
    • aplastic crisis with sickle cell
  48. Rocky Mountain Spotted Fever
    • Fever, headache, rash
    • red maculopapular rash on wrists and ankles
  49. Kawasaki
    • strawberry red tongue
    • rare dreaded complication is MI
  50. Scarlet fever
    • strawberry tongue and sandpaper rash facial flushing
    • Forchheimer spots-small red spots on soft palate
  51. Prader-Willi
    • prenatal hypotonia, postnatal growth delay, hypogodnadism
    • under expression of chromosome 15
    • floppy baby-->obesity b/c of craving for food
    • almond shaped eyes
    • Tx: growth hormone replacement, obesity control
  52. Neurofibromatosis I
    von Recklinhausen's disease
    • Mc form of NF
    • > 6 cafĂ© au lait spots
    • axillary freckling
    • optic pathyway gliomas
    • Dx: hyperweighted T2 signals on MRI
    • Tx: remove if complicaitons optic screening
  53. Neurofibromatosis II
    • autosomal dominant CNS tumors
    • Schawnomas, or vestibular neuromas
    • Tx: surgery or bevacizumab
  54. Tay-sachs disease
    • autosomal recessive disorder of Ashkenazi Jews, eastern European descent, canjuns in LA and French Canadians
    • premature neuron death
    • increased startle reflex-->death by age 3-4
    • cherry-red spots on retina
Card Set:
2015-10-21 22:58:51

peds illnesses
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