Peds Flashcards
Newborn respiratory distress ddx w/ path, presentation, dx, tx
Transient tachypnea:
Mild edema
Tachypnea through first 2 days
XR: bilateral perihilar streaking
Respiratory distress syndrome: Surfactant insufficiency 2/2 premature birth & maternal diabetes* Severe cyanosis, grunting, flaring XR: diffuse opacities Antenatal glucocorticoids
Pulmonary HTN:
Resulting in R-L shunting
Severe cyanosis
XR: clear
Meconium aspiration:
Non-clear amniotic fluid, usually term or post-term
Torticollis path, presentation, dx
Twisting neck to L or R
2/2: respiratory infection, retropharyngeal abscess, or neck trauma
Neck XR: to rule out C-spine fx or dislocation
Hirschprung’s disease path, association, presentation, dx, tx
Failure of neural crest migration ==> aganglionic colon ==> failure to relax
Down’s syndrome
Failure to pass stool for 24+ hours post birth
XR: obstruction
Squirt sign: rectal exam produces stool EXPLOSION
Barium enema: narrow distal colon with proximal dilation
Biopsy: REQUIRED ==> showing no ganglion
Surgical
Meconium ileum path, association, presentation, dx, tx
Thickened meconium (usually 2/2 CF) causes impaction in ileum
Failure to pass stool for 24+ hours post birth
No squirt sign More proximal (ileum) transition point
Pyoric stenosis path, presentation, dx, tx
Pyloric stenosis
Non-bilous vomiting
3-5 weeks post birth
Palpable “olive” mass in RUQ
Visible peristaltic wave
Hypochloremic, hypokalemic metabolic alkalosis 2/2 vomit
Ultrasound: long, thick pylorus
CORRECT METABOLIC DERANGEMENTS*==> surgical repair
Foreign body aspiration anatomy, presentation, dx, tx*
Airway anterior to esophagus ==> usually lands in R mainstem bronchus
Airway: stridor, wheeze, cough, hyperinflation ==> rigid bronchoscopy (*XR may not show foreign body if radiolucent)
Esophagus: vomiting, cough, dysphagia, feeding refusal ==> flexible endoscopy*
Distal to esophagus: observe patient until it passes spontaneously*
Child abuse presentation, management
History: vague, implausible, sibling implicated, mental handicapped children
PE: injury to genitals, hands, back, buttocks; late-healing wounds; spiral fractures of humerus and femur; epiphyseal-metaphyseal “bucket” fractures; posterior rib fractures; retinal hemorrhage 2/2 “shaken baby syndrome” (non-con head CT too); Mongolian spots are NOT abuse
Caregiver: argumentative, late-presenting
- Full body examination
- CBC and X-rays
- CPS if concerned
Parent refusing vaccines approach*
Provide recommendation
*Document risk vs benefits discussion in chart
No further workup needed because HERD IMMUNITY still exists
Selective mutism dx*, ddx
Total refusal to engage others in specific setting despite normal behavior at home
Stranger anxiety: stops at age 3
Separation anxiety: 3+ signs of extreme distress when separated from loved one
When to get a court order*
Parents refusing treatment for non-emergent but potentially fatal condition (e.g. ALL)
Congenital heart disease ddx, associated risk factors/diseases
Cyanotic R-L shunts
Acyanotic L-R shunts
PDA: rubella Coarctation: Turner's Coronary aneurysm: Kawasaki's Heart block: lupus Supravalvular aortic stenosis: william's Ebstein's RV malformation: lithium Heart failure: neonatal thyrotoxicosis Septal hypertrophy: maternal DM Transposition: maternal DM
Cyanotic heart defects path, ddx, presentations, dx, tx
5T's Truncus arteriosus Transposition: severe cyanosis @ birth (only one) Tricuspid atresia Tetralogy of fallot Total anomalous pulmonary venous return
Noncyanotic heart defects ddx, path, presentations, dx, tx
3D’s ==> L-R shunt
- VSD:
Down’s/fetal alcohol/TORCH etc.
Small: harsh holosystolic @ LLSB
Large: respiratory infection, CHF; softer holosystolic
Dx: echo
Tx: small ones close; surgery for severe or non-resolving - ASD
Fetal alcohol, Down’s
Usually asymptomatic; sometimes respiratory infections
Ostium primum: presents early in childhood
WIDE, FIXED, SPLIT S2
Dx: echo
Tx: small ones close; surgery for severe - PDA
L-R shunt from aorta to pulmonary artery 2/2 rubella, prematurity
Machine murmur @ 2nd L intercostal; wide/bounding pulses
Dx: echo
Tx: Indomethacin ==> surgery if >6 months
Eisenmanger’s path, presentation, dx, tx
Reversal of L-R shunt 2/2 pulmonary HTN
Coarctation of aorta path, presentation, dx, tx
Constriction of aorta, usually proximal to PDA in infants
2/2 Turner’s
Often w/ bicuspid aorta
UE systolic > LE
Murmur over scapulae
3 sign: CXR showing pre & post dilation (looks like a 3)
Rib notching 2/2 collateral circulation
Dx: echo
Infants: MAINTAIN PDA!!! ==> prostaglandin E1
Transposition of great vessels path, association, presentation, dx, tx
Aorta:RV & PA:LV ==> incompatible with life without ASD, VSD, or PDA
Often 2/2 diabetic mothers
Severe cyanosis (@ birth! earliest presenter)
CXR: egg shaped silhouette
Dx: echo
Prostaglandin E1
Balloon atrial septostomy and/or sugery
DiGeorge syndrome path, presentation, dx, tx
Congenital…
"CATCH-22" Cardiac: transposition of great vessels Abnormal facies Thymic aplasia ==>virus, fungi, PCP infection ==>XR absent thymic shadow ==>bone marrow transplant + IVIG Cleft palate Hypocalcemia ==> tetany at birth 22q11 deletion
Tetralogy of fallot path, associations, presentation, dx, tx
4 things: pulmonary stenosis, VSD, RVH, “overriding aorta” (receives RV and LV blood) ==> cyanotic R-L shunt
Often 2/2 DiGeorge, maternal PKU
Cyanosis within 2 years of life
“Tet spells”: squatting for relief to increase SVR
CXR: boot-shaped heart
Dx: echo
PGE-1 ==> surgery
Milestones: motor, language, social
2 months: social smile
4 months: rolls front-back; laughs
6 months: sits; babbles; stranger anxiety
12 months: walks; 1 word; separation anxiety
2 years: walks stairs; 2 word phrases
3 years: tricycle; 3 word sentences
Infant weight patterns through 2 years; failure to thrive (FTT) ddx
May lose 10% at birth
Should return to birthweight by 2 weeks
Double birthweight by 6 months
Quadruple birthweight by 2 years
Organic: underlying medical condition
Inorganic: maternal depression, neglect abuse
Precocious / delayed puberty ages; gender growth phases
Girls: 13
Boys: 14
Girls: thelarche (boobs) ==> pubarche ==> growth spurt ==> menarche
Boys: gonadarche (nuts) ==> pubarche ==> adrenarche (hair) ==> growth spurt
Down’s path, associated diseases*, presentation
Nondisjunction (95%), Robertsonian (4%)
GI: duodenal atresia, Hirschprung’s
Cardiac: AV canal; ASD, VSD, PDA
ALL & Alzheimers
MSK: atlantoaxial instability ==> cord compression causing upper motor neuron dysfunction*
Upslanted eyes; simian crease; hypotonia
Edward’s syndrome path, presentation, prognosis
Trisomy 18
Severe retardation Micrognathia (small jaw) Rocker-bottom feet* Clenched hands w/ overlapping 4/5 digits* Heart disease (VSD*) Horseshoe kidney
Death by 12 months
Patau’s syndrome path, presentation
Trisomy 13
Micropthalmia (small eyes)
Microcephaly
Holosprocencephaly (single undivided brain lobe)
Polydactyly
Death by 12 months
Kleinfelter’s path, presentation, tx
47 XXY (Barr body X)
Testicular atrophy
Tall, lanky
Gynecomastia (gay Jay Murphy)
Testosterone
Turner’s syndrome path, presentation
45 XO
Ovarian dysgenesis (primary amenorrhea)
Coarctation / bicuspid aortic valve
Hand/foot lymphedema
47 XYY
Tall acne prisonmates
Phenylketonuria path, presentation, tx
Autosomal recessive enzyme deficiency ==> phenylalanine buildup ==> tyrosine becomes essential to diet
Retard with blond hair and blue eyes
Increase tyrosine and decrease phenylalanine in diet
Fragile X syndrome path, presentation
X-linked dominant
Mental retardation
Large jaw, testes, ears
Autistic
Fabry’s disease path, presentation
X-linked recessive alpha-galactosidase A deficiency ==> ceramide trihexoside accumulation in heart, brain, kidneys
Severe limb pain
Telangiectasias
Renal failure
Thromboembolic risk
Krabbe’s disease path, presentation
Autosomal recessive enzyme defiency ==> galactocerebroside accumulation in brain
CNS degeneration ==> death by 3
Gaucher’s disease path, presentation, dx
Autosomal recessive glucocerebrosidase defiency ==> glucocerebroside accumulation in brain, liver, spleen, bone
Anemia
Thrombocytopenia
“Crinkled paper cells”
Niemann-Pick path, presentation
Autosomal recessive sphingomyelinase deficiency ==> sphingomyelin accumulation
Cherry-red spot
Hepatosplenomegaly
Tay-Sach’s path, presentation
Absent hexosaminidase ==> GM2 ganglioside accumulation
Jews
Cherry red spot without hepatosplenomegaly
Regression beginning at 3 months ==> weakness and death by age 3
Metachromatic leukodystrophy path, presentation
Autosomal recessive aryl-sulfataste A deficiency ==> sulfatide accumulation in brain ==> demyelination
Ataxia and dementia
Hurler’s syndrome path, presentation
Autosomal recessive alpha-iduronidase deficiency
Corneal clouding
Gargoylism
Mental retardation