Pediatrics Flashcards
(108 cards)
1
Q
Weight trends
A
infant loses up to 10% birth weight, regained by 2 weeks
birth weight doubled by 4 mo, tripled by 12 mo, quadrupled by 24 mo
Age 2-13 annual wt gain 5 pounds
Inadequate wt gain:
poor intact - feeding techniques, neglect
Vomiting - pyloric stenosis, reflux
Malabsorption
neoplasma
infection
congenital diseases - cardiac or endocrine
Failure to thrive - less than 2nd percentile or consistently low weight
2
Q
Height trends
A
increases 50% at 1 yr, doubles by 4 y, triples by 13
Annual increase of 2 in from age 2-adolescence
Greater than normal height: familial tall stature precocious puberty gigantism - excessive GH hyperthyroidism Klinefelter syndrome, Marfan syndrome obesity
Lower than normal height: familial short stature constitutional growth delay neglect Turner syndrome chronic renal failure asthma, CF IBD immunologic disease GH deficiency hypothyroidism glucocorticoid excess skeletal dysplasias neoplasm
3
Q
causes of macrocephaly
A
cerebral metabolic disease - Tay-Sachs, maple syrup urine disease
neurocutaneous syndromes - neurofibromatosis, tuberous sclerosis
hydrocephalus
increased ICP
Skeletal dysplasia
acromegaly
Intracranial hemorrhage
4
Q
causes of microcephaly
A
fetal toxin exposure - fetal alcohol syndrome chromosomal trisomies congenital infection cranial anatomic abnormalities metabolic disorders neural tube defects
5
Q
Car seats
A
under 2 - rear facing, middle back seat
2-5 - forward facing, harness as long as possible
5-12 - booster until seat belt fits properly - 4’9” between 8-12
Younger than 13 - back seat
6
Q
APGAR score
A
Appearance: 0 blue, 1 acrocyanosis, 2 pink all over
Pulse: 0 absent, 1 less than 100, 2 over 100
Grimace: 0 absent, 1 grimace, 2 strong cry
Activity: 0 absent, 1 some movement, 2, vigorous movement
Respiration: 0 absent, 1 irregular, 2 regular
normal 7-10
abnormal - resuscitate
7
Q
Calorie content per ounce of breastmilk vs formula
A
20 kcal/oz each
8
Q
Caloric needs in infant less than 6 mo
A
100-120 kcal/kg/day
9
Q
Single umbilical artery
A
get renal u/s - check for abnomalies
10
Q
Anterior fontanelle closure
A
normal by 24 mo
Delayed consider: downs, achondroplasia, rickets, congenital hypothyroidism, increased ICP
Early - monitor head circumference for craniosynostosis
11
Q
Craniotabes
A
soft occipital bone - like ping-pong ball
3-12 mo
highly suspicious for rickets
12
Q
Signs of dehydration in child - mild
Skin turgor mucous membranes Tears Fontanelle CNS HR Capillary refill Urine output
A
Infant - 5%; 50 ml/kg
Skin turgor - normal mucous membranes - moist Tears - present Fontanelle - flat CNS - consolable HR - normal Capillary refill - less than 2 sec Urine output - normal
13
Q
Signs of dehydration in child - moderate
Skin turgor mucous membranes Tears Fontanelle CNS HR Capillary refill Urine output
A
infant - 10%, 100 ml/kg
Skin turgor - tenting mucous membranes - dry Tears - reduced Fontanelle - soft CNS - irritable HR - mild increase Capillary refill - about 2 sec Urine output - decreased
14
Q
Signs of dehydration in child - severe
Skin turgor mucous membranes Tears Fontanelle CNS HR Capillary refill Urine output
A
Infant - 15%, 150 ml/kg
Skin turgor - none mucous membranes - parched/cracked Tears - none Fontanelle - sunken CNS - lethargic HR - increased Capillary refill - >3 sec Urine output - anuric
15
Q
Failure to thrive in under 2 yo
A
2nd percentile in weight or less on more than 1 measurement
weight less than 80% of ideal weight for sex and age
Weight crosses 2 major percentiles downward on growth chart over time
weight for length ratio less than 10th percentile
Rate of daily weight gain less than expected for age
16
Q
tanner stages for penile/testicular development
A
(pubic hair in gyn lecture)
1- prepubertal
2 - testicular and scrotal growth with skin coarsening
3- penile enlargement and further testicular growth
4- further growth glans, and darkening of scrotal skin
5 -adult genitalia
17
Q
Early adolescence (10-13) psychosocial development
A
concrete thinking and early independent behavior
18
Q
Middle adolescence (14-16) psychosocial development
A
emergency of sexuality - identity, beginnings of sexual activity
increased desire for independence (conflict with parents, need for guidance, self absorption)
development of abstract thought
19
Q
Late adolescence (17-21) psychosocial development
A
increased self-awareness, increased confidence in own abilities, more open relationship with parents, and cognitive maturity
20
Q
Klinefelter syndrome
A
47, XXY Tall thin body Gynecomastia Testicular atrophy Infertility Mild retardation Psychosocial adjustment abilities
21
Q
Turner syndrome
A
45, XO Web neck Low occipital hairline Short stature Infertile Streak ovaries Coarctation of aorta Horseshoe kidney
Most end in spontaneous abortion
Can have mosaicism (45, XO/46, XX)
Most common cause of primary amenorrhea
Tx:
Estrogen and progesterone
Growth hormone
Cardiac monitoring
22
Q
Down syndrome
A
Trisomy 21
First trimester ultrasound: increased nuchal translucency
Quad screening: low AFP, high b-hCG, low Estriol, high inhibin A
Features:
Intellectual disability
Small ears, Flatnose, protruding tongue
Transverse Palmar crease - simian crease
Cervical spine instability
Increase space between first and second toes
Vision and hearing loss
duodenal atresia, Hirschsprung disease, annular pancreas, celiac disease
Alzheimer’s disease 3rd decade
Endocardial cushion defect, Tetralogy of Fallot, PDA
Associated with ALL “ALL fall DOWN”
23
Q
Edward syndrome
A
Trisomy 18
Quad screening: low AFB, low b-hCG, low Estriol
Features: Severe intellectual disability hypertonia Micrognathia - small mouth, small jaw Overlapping flex fingers, rocker bottom feet PDA, VSD omphalocele, Meckel diverticulum
Usually miscarry in first trimester
Die within 2 weeks of life, possible to survive 1st year
24
Q
Williams syndrome
A
Elfen type face - upward turn nose, Long philtrum
Mild retardation
Cheerful
Cardiac defects
25
Velocardiofacial Syndrome
del 22q11
```
DiGeorge Sn - T cell deficiency, hypocalcemia
Cleft palate
Truncus arteriosus, Tetralogy of Fallot
Mild retardation
Overbite
Speech disorder
```
26
Patau syndrome
Trisomy 13
```
Severe intellectual disability
Cleft lip and palate
Rounded nose
Polydactyly
Cardiac and CNS defects
```
27
Angelman syndrome
mom Ch15
```
MR
Seizures
Ataxia
Inappropriate laughter
"happy puppet"
```
28
Prater Willi syndrome
dad Ch15
```
Hyperphagia -> obesity
Short
MR
Tantrums, skin picking, OCD
Hypogonadotropic hypogonadism
Incomplete sexual development
Osteoporosis - Child
Delayed menarche
```
29
Cri-du-chat syndrome
Small head
Low birth weight
MR
FTT
High-pitched cat like cry
30
Fragile X syndrome
Trinucleotide repeat
MC cause of MR in men
```
MR
Hyperactivity
Seizures
Large faced with prominent jaw
Large ears
Mild hand and foot abnormalities
macroochidism
```
31
Tuberous sclerosis
Distinctive brown, fibrous plaque on the forehead in infancy
Ashleaf spots - wood's lamp
Shagreen patch - leathery cutaneous thickening usually on the lower trunk
Facial angiofibromas - adenoma sebaceum
seizures
MR
Subependymal nodules in brain - distinguishes from neurofibromatosis
32
Fetal alcohol syndrome
short palpebral fissures
thin upper lip
Smooth philtrum
Flattened midface
Structural brain abnormalities
10th percentile or less for head circumference
Abnormal neurologic exam
Variable MR
10 percentile or less for height and weight
FTT despite adequate intake
Disproportionately low weight to height ratio
33
Branchial cleft cyst
Lateral neck
| Does not move with swallowing
34
Thyroglossal duct cyst
Midline neck
Moves with swallowing
Most common neck cyst
Associated with ectopic thyroid tissue
35
Blood shunting in fetus
Ductus venosis
Foraman ovale
ductus arteriosis
36
path of highest O2 blood in fetus
umbilical v -> ductus venosis -> IVC -> right atrium
37
Patent ductus arteriosus
```
Risk factors:
F>M
Prematurity
Congenital rebel infection
Trisomy 21
```
Features:
May lead to heart failure ( tachypnea, respiratory distress, Poor feeding)
Continuous machinery like murmur
Wide pulse pressure and bounding pulses
Dx:
CXR: cardiomegaly
ECHO: shows defect, enlarged LA and LV
Tx:
Indomethacin
Surgical ligation
38
Atrial septal defect
left to right shunt
Risk factors:
Trisomy 21
```
Presentation:
+/- heart failure - SOB, FTT, cyanosis
Eisenmenger syndrome -> cyanosis
Fixed splitting of S2
+/- midsystolic pulmonary flow murmur
```
Dx:
ECHO - shows defect, enlarged RA and RB
Tx:
Small: monitor for sxs
Large or HF/cyanosis - surgical repair
39
Ventricular septal defect
Left to right shunt
Risk factors:
Trisomy 21
presentation:
+/- heart failure - tachypnea, poor feeding, failure to thrive
Eisenmenger Sn -> cyanosis
Holosystolic murmur along LLSB
Dx: ECHO shows defect
Tx:
Diuretic (furosemide) +/- inotropic drug (dopamine)
large defect - repair
40
Eisenmenger sequence of events
left to right shunt
Pulmonary hypertension
RV hypertrophy
Right heart pressure exceeds left heart pressure -> reverse workflow across the defect
Deoxygenated blood enters the systemic circulation
-> cyanosis, dyspnea, digital clubbing
41
Coarctation of the aorta
Usually near the ductus arteriosus
Risk: Turner syndrome
Presentation:
high BP in the arms and low BP In the legs
Neonates may develop heart failure and shock when the ductus arteriosus closes
Dx:
CXR - notching of ribs
ECHO shows defect
Tx:
Prostaglandin E keeps the ductus open - avoid heart failure and cardiogenic shock
Surgical correction
42
Truncus arteriosus
Failure of truncus arteriosus to divide into the aorta and pulmonary trunk
-associated with a VSD
Features:
Neonatal cyanosis (immediately), tachypnea, respiratory distress
Poor feeding, FTT
Harsh systolic murmur at the LLSB (due to VSD)
DX: ECHO
Tx: repair
43
Transposition of the great vessels
RV empties into the aorta and the LV empties into the pulmonary trunk
-incompatible with life without ASD or VSD
Features:
Neonatal cyanosis and tachypnea
Murmur if VSD
ECHO
Tx:
Prostaglandin E - keeps ductus arteriosus patent
Balloon atrial septoplasty
Surgical repair
44
Tricuspid atresia
Tricuspid valve does not develop
- RV often hypoplastic
- incompatible without ASD and VSD
ECHO
Tx:
Prostaglandin E
Surgical repair
45
Ebstein anomaly
Tricuspid leaflets displaced into RV
Hypoplastic RV
Tricuspid valvular regurgitation or stenosis
PFO with right to left shunt
Associated with maternal lithium use
```
Features:
Sinuses and heart failure
Increased risk of SVT and WPW
Widely split S2
murmur - tricuspid regurgitation (holosystolic, LLSB)
```
ECHO
```
Tx:
Prostaglandin E
Diuretic +/- digoxin
Radiofrequency ablation for arrhythmias
Surgical repair or replacement of tricuspid valve
```
46
Tetralogy of Fallot
```
MC
'IHOP'
Interventricular septal defect - VSD
Hypertrophy of RV
Overriding aorta
Pulmonic stenosis
```
Risk factors:
Trisomy 21
DiGeorge Sn
Features:
Episodes of cyanosis, dyspnea, and fatigue - 'tet spells'
-relieved by squatting
Pulmonic stenosis murmur - systolic at LUSB
CXR: RVH - Boot shaped heart
ECHO
Tx:
Acute cyanotic spells - knees to chest, O2, morphine, propranolol
Neonates: prostaglandin E
Surgical repair
47
Total anomalous pulmonary venous return
Pulmonary veins empty into the systemic venous circulation - SVC, coronary sinus, RA
Features:
cyanosis and tachypnea
ECHO
Tx:
Prostaglandin E
Repair
48
Tracheoesophageal fistula
Blind upper esophageal pouch
Lower esophagus attached to trachea
Features:
Coughing and cyanosis during feedings
Abdominal distention
Aspiration pneumonia
CXR with NG tube
Tx: surgery
49
Pyloric stenosis
Hypertrophy of the pyloric sphincter causes obstruction of the gastric outlet
Presentation:
Non-bilious projectile vomiting
Palpable epigastric olive sized mass
Lab: hyperchloremic, hypokalemic metabolic alkalosis
Rad: barium show string sign
US Study of choice
Tx: pyloromyotomy
50
Necrotizing enterocolitis
Risk factors:
Preterm
Low birth weight
```
Presentation:
Bilious vomiting
Lethargy
Poor feeding
Diarrhea
hematochezia
Abdominal distention
Abdominal tenderness
Shock
Metabolic acidosis
Hyponatremia
```
Rad: bowel distention, pneumatosis intestinalis, free air
```
Tx:
TPN
IV broad spectrum abx
NG suction - decompress bowel
Resect affected bowel
```
51
Hirschsprung disease
```
Features:
Vomiting
Obstipation
Failure to pass meconium/stool
Abdominal distention
FTT
"blast sign" - DRE -> bowel movement
```
Bx: absence of ganglia
XR: dilated bowel
Barium enema: proximal distention with distal narrowing
Tx: colostomy and resection of effected area
52
Intussusception
MC cause of bowel obstruction the first 2 years of life
Telescoping of bowel into itself
```
Risk factors:
Meckel diverticulum
Henoch-Schonlein purpura
Adenovirus - inflamed peyers patches
CF
```
```
Presentation:
Sudden abdominal pain (less than 1 min)
pallor
Sweating
Vomiting
"current jelly stool" - bloody mucus in stool
```
CT: target
Tx: barium enema, surgery
Complication: bowel ischemia
53
Meckel diverticulum
Remnant of vitelline duct
```
2's:
2 inches long
2 ft from ileocecal valve
2% of population
first 2 years of life
2 types of epithelium - pancreatic, gastric -> painless lower GI bleed
```
Scintigraphy - ectopic gastric mucosa
Risk factor for intussusception
54
Respiratory distress syndrome in newborn
surfactant deficiency - type II pneumocytes immature
a lecithin/shpingomyeline ratio greater than 2 = maturity
```
S/S:
Tachypnea - RR >60
Nasal flaring
Expiratory grunting
intercostal retractions
hypoxia
```
Lung exam: crackles, areas of decreased breath sounds
Give IM corticosteroids for labor prior to 34 weeks
CPAP for all babies
If weak respiratory drive or FiO2>0.4 then intubate and give exogenous surfactant via ET tube
55
CXR in respiratory distress of newborn
low long volumes
| Diffuse groundglass appearance with air bronchograms
56
CXR in transient tachypnea of the newborn
Increased lung volumes with flattening of the diaphragm
Prominent vascular markings from the hilum - sunburst pattern
Fluid streaking in interlobular fissures +/- pleural effusions
57
Meconium aspriation syndrome
Risk: postterm infants and in fetal distress during labor (intestinal contractions in neonate)
Presentation:
Meconium staining of skin
Respiratory distress
CXR: streaky linear densities, hyper inflated, Flat diaphragms
No intrapartum suction
No suction on vigorous infant
Suction on non-vigorous infants - depressed respiration, decrease tone, HR less than 100
O2 as needed
Intubation for respiratory distress
Enteric antibiotics for pneumonia or sepsis
Short-term complications:
PTX, pulmonary hypertension
Reactive airway disease, asthma
58
Cystic fibrosis
CFTR mutation
Sweat chloride >60 on 2 occasions
```
Features:
meconium Ileus at first
FTT
Pancreatic insufficiency
Steatorrhea
Chronic productive cough
Hyper inflated lungs
PFTs - obstructive lung disease
Recurrent infections: S. aureus, nontype H flu, pseudomonas
Chronic rhinosinusitis
```
Tx:
CFTR modulators -ivacaftor, lumacaftor - improve function of CFTR protein
B2- agonist - albuterol, salmeterol, formoterol
Deoxyribonuclease (DNase, dornase alfa) - decrease sputum viscosity
Hypertonic saline for chronic cough
Physiotherapy - aerobic exercise - increased mucus clearance - percussion vests
Azithromycin liberally when lung function decreases - slow decline in lung function, treat any pseudomonas
Fluoroquinolones used in children with CF
Pancreatic enzyme supplements
ADEK supplements
59
FB aspiration
6mo-4 y
Stridor
Coins usually esophagus
Right main stem bronchus - more vertical
60
Croup
parainfluenza virus 1/2
-less common: RSV, influenza, adenovirus, Mycoplasma
3m-3 yr, fall or early winter
```
Presentation:
Nasal congestion
+/- fever
Barky seal like cough
Inspiratory stridor
"steeple sign" on CXR
```
Tx:
Cool mist humidifier, steam from hot shower, cold night air, popsicle
Mild: dexamethasone IM/PO x1
Moderate to severe: keep patient calm, dexamethasone Im/PO x1, nebulized (racemic) epi, humidified oxygen
Severe with respiratory compromise - intubate
61
Epiglottitis
HIB, Staph, strep, nontypable H flu
2-7 yo
Acute onset high fever, poor oral intake, Drooling, severe sore throat, dysphasia, toxic appearance, respiratory distress, stridor, hypoxia
"hot potato voice"
"tripoding"
Lateral neck XR: thumb sign
CBC: leukocytosis with bandemia
Tx:
Minimize stress/anxiety
Intubate or tracheostomy ASAP
Cx and sensitivity from blood and epiglottis surface
Vancomycin or clindamycin + ceftriaxone or cefotaxime
62
Pertussis
under 4 mo risk respiratory failure
Incubation 7-10 days
Catarrhal stage 7-10 d - mild URI symptoms
paroxysmal stage 2-8 wks: paroxysms of cough with inspiratory whoop - worse at night, often with post-tussive emesis and exhaustion
-often confused with acute bronchitis
Convalescent stage 2-3 weeks - waning sxs
Dx: clinical
Nasopharyngeal swab for PCR
Tx:
Azithromycin x5 d, TMP-SMX x 14 d
ppx close contacts - azithromycin
Isolation from school/day car x5 days of abx or 3 weeks after onset of sxs in untreated pt
```
Hospital admit:
Respiratory distress
Pneumonia
Inability to feed
Cyanosis or apnea - with or without coughing
seizures
```
63
RSV bronchiolitis
RSV (MC), flue, parainfluenza type 3, adenovirus, metapneumovirus
Presentation
1-3 days of mild URI: copious rhinorrhea, mild cough, mild fever, Poor feeding
Cough with tachypnea, expiratory wheezing, crackles and hyper resonance from air trapping
Possible respiratory distress with nasal flaring, tachypnea, retractions, grunting
Possible apnea in neonates
CXR: hyperinflation, patchy perihilar infiltrates
Tx:
supportive, O2 and IVF prn
Steroids NOT effective
Abx and ribavirin NOT USED
ppx: palivizumab in premies to decrease risk of hospitalization
64
Rubeola - measles
Prodrome 2-3 days: fever (persists), malaise, anorexia, 3 C's (cough, coryza, conjunctivitis)
Koplik spots - white-gray spots with red base on buccal mucosa - 48 hours before rash
Rash 5 days after prodrome onset: erythematous, maculopapular rash, Head and spread to feet, last 4 to 5 days, resolves from head down - darkens and coalesces
```
Tx:
Supportive
Risk superinfections - treat PNA or OM
Vitamin A
Ribavirin (not standard of car, harms measles virus in vitro)
```
65
Rubella virus - German measles
Low-grade fever, LAD, rash
Prodrome: malaise, fever, anorexia 1-5 days before rash
LAD: suboccipital and posterior cervical nodes
Rash: erythematous, tender, maculopapular, starts on face then generalizes - lasts 5 days, does not darken or coalesce like measles
Fever mild, only day 1
Polyarthritis up to 1 mo in women and adolescents
66
Erythema infectiosus (fifth disease)
Parvovirus B19
Prodrome: sore throat, headache, cough, coryza, diarrhea x2-5 days
Slap cheek rash -> trunk and extremities - area around lips spared
Rash resolves within two weeks
Sickle cell - risk aplastic anemia
Pregnant - hydrops fetalis and intrauterin fetal death
67
Roseola infantum (sixth disease)
HHV-6
Sudden high fever >102 x3-4 days - no other s/s
Rash appears as fever dissipates - starts on trunk then spreads over body, lasts 24 hrs
Erythematous papules on soft palate and uvula, mild cervical LAD, edematous eyelids, bulging anterior fontanelle in infants
Commonly misdiagnosed as acute OM and subsequent antibiotic allergy
Tx: antipyretics as needed
68
Scarlet fever
S. pyogenes
Rash:
-"sandpaper like" - erythematous and blanching "sunburn-like"
-Starts on trunk then generalizes - spares palms and soles
-prominent in creases of axilla and groin - Pastia's lines/sign
Strawberry tongue, beefy-red pharnyx, cervical LAD
Fever/chills
later desquamation of hands and feet
Positive throat cx or rapid strep test
69
Desquamation of hands and feet - ddx
Scarlet fever
kawasaki disease
Toxic shock syndrome
acrodyna of mercury poisoning
70
Coxsackie - hand, foot, mouth disease
Constitutional fever and anorexia
Oral vesicles on buccal mucosa and tongue - rupture -> shallow ulcers
Small, tender, maculopapular/vesicular rash on the hands and feet, sometimes buttocks
duration 3-5 days without complications
71
acute and bilateral cervical LAD in child
usually viral
URI: rhinovirus, adenovirus, influenza, group A strep
Mono - EBV or CMV or Mycoplasma
Other: HIV, HSV
72
Acute and unilateral cervical LAD in child
usually bacterial
| S. aureus, group A strep > anaerobes, group B strep
73
Chronic and unilateral cervical LAD in child
Bartonella henseale - cat scratch fever
Toxoplasmosis
TB -> scrofula
Actinomyces israelii -> sinus tracts drain pus
74
cervical LAD in child without infectious cause
Kawasaki disease
| Hodgkin lymphoma
75
PFAPA syndrome
Periodic fever, aphthous ulcers, pharyngitis, and adenitis
-occurs monthly
2-5 yo
Benign, self limited
lasts 4-8 yrs
Tx: glucocorticoids relieve sxs in hours
Tonsillectomy may be beneficial
76
Fanconi anemia
```
Presentation:
Pancytopenia
Short stature
Hyperpigmented spots and café au lait spots
Abnormality of the thumbs - dangling
Microcephaly or hydrocephaly
Developmental delay
```
Labs:
Pancytopenia
Increased AFP
Bone marrow: hypocellularity, increased chromosome of breakage in lymphocytes
Tx: hematopoietic cell transplantation
Complications:
Death from bone marrow failure
Increased risk of cancer- leukemia, head and neck
77
Diamond-Blackfan anemia
ribosome mutation
```
Presentation:
RBC anemias
Craniofacial abnormalities
Ophthalmologic abnormalities
Neck anomalies
Cardiac anomalies
Thumb anomalies
GU malformations
Pre and postnatal growth failure
```
labs:
Macrocytic anemia, decreased reticulocytes
Normal WBC and platelets
BM: normal cellularity, decreased or absent erythroid precursors
Tx: corticosteroid, blood transfusion
Increased risk of cancer
78
Neuroblastoma
MC adrenal tumor (or sympathetic ganglion) and children
```
Presentation:
Abdominal distention and pain
Weight loss
Malaise
Bone pain
Diarrhea
Abdominal mass
Hypertension
Horner syndrome
Proptosis
movement disorders
hepatomegaly
Fever
periorbital bruising
```
Labs:
increased vanillylmandelic acid (VMA) and homovanillic acid in 24 hr urine
Dx: CT
Tx: surgery
No episodic hypertension, diaphoresis like pheo
79
Rhabdomyosarcoma
MC soft tissue sarcoma in kids - striated muscle
Majority - extremities - 50% thigh, buttock, groin
Presentation:
Gradually enlarging painless mass
Hematogenous spread to lung
Dx: MRI and bx
Tx: chemo, rad, surgery
75% at 5 yr if localized
80
Developmental dysplasia of hip
Risk factors:
Female - breech, FHx
Male - breech
Displacement of femoral head from acetabulum
Hip click on Barlow and Ortolani
Asymmetric skin folds/ creases
On equal leg length - glotsy sign
Trendelenburg gait
Dx: hip u/s, XR after 4 mo
Tx:
Pavlik harness - maintain hip in abduction - until 6 mo
dx after 6 mo - closed (or open) reduction and spica casting
After 2 yr uncorrected - open reduction
after 8 yo - no attempt to correct
81
Slipped capital femoral epiphysis (SCFE)
Early adolescent
Separation of femoral epiphysis from the metaphysis
Presentation:
Overweight or athletic teen boy
Limp, pain on hip movement
limited internal rotation and abduction of hip
Dx: XR - ice cream falling off cone
Tx: operative stabilization - avoid weight bearing
Complications: avascular necrosis, premature OA
82
Legg-Clave-Perthes disease
3-8 yo
Avascular necrosis of capital femoral epiphysis - unknown cause
Gradually worsening limp, decreased range of motion
Dx: XR - icecream melting
Tx: non-weight bearing, usually no surgery
50% recovery fully
increased risk of OA and early hip replacement
83
Osgood-Schlatter disease
Inflammation of the insertion of the patellar tendon at the tibial tuberosity
MC sxs: anterior knee pain, increases over time and and worsened by quadriceps contraction (running, jumping)
Signs:
tibial tuberosity - soft tissue swelling, palpable bony mass and/or pain upon quadriceps flexion
```
Tx:
can continue sports despite pain
Rehab - stretch hamstrings and quads, strengthening quads
protective pad over tibial tuberosity
ICE after activities
NSAIDs for pain
```
DO NOT USE knee immobilizers
84
Nursemaid's elbow - radial head subluxation
Subluxation of radial head out of the annular ligament
ages 1-4
Pulling or traction on outstretched arm - lifting child by arm
young child holding arm pronated and partially flexed or extended at elbow
Dx: XR
Tx: supination/flexion or hyperpronation
85
Duchenne muscular dystrophy
Becker MD - less severe, slower progression
X linked - dystrophin gene
Presentation:
2-3 yrs old
Progressive proximal muscle weakness, clumsy, difficulty with getting up from seated position (Gower sign)
Braces by 10, wheelchair by 12
Skeletal abnormalities - curvature of spine
Dilated cardiomyopathy, conduction abnormalities - extensive fibrosis of LV wall
Pseudohypertrophy of calg - fibro-fatty infiltrate
Shortening of the Achilles tendon
Waddling gait
Hyporeflexia or areflexia
Dx:
Elevated CK before sxs (like polymyositis)
muscle bx: muscle degeneration, isolated opaque hypertrophic fibers, replacement of muscle with fat and connective tissue
EMG: poly phasic potentials, increased fiber recruitment
Dystrophin analysis - decreased on immunoblots
Genetic analysis - definitive
Tx:
Prednisone at 5
ECHO q1 yr starting at 10
86
Osteogenesis imperfecta
Type 1 collagen disorder
```
Presentation:
Leg deformities - fractures in utero
Blue sclera
Pliable skin and joint hypermobility
Teeth deformities
Deafness or hearing loss - fractures of ossicles
```
Tx:
No contact sports, restrict activity
Bisphosphonates
87
Rickets
Open growth plate
Deficient mineralization of the growth plate
Calcipenic - calcium deficiency due to vitamin D deficiency MC
Phosphopenic - due to phosphate wasting in kidneys
Risk: exclusively breast fed, dark skin and pigmentation, living in extreme North or South
Presentation:
Delayed closure of the fontanelles
Parietal and frontal bossing - softened skull bones
Enlargement of the costochondral junction with beading - rachitic rosary
Widening of the wrists, bowing of the distal radius and ulna
Lateral bowing of the femur and tibia
Bone pain
Delayed walking
kyphoscoliosis
Limb weakness
Decreased height
Tx: vit D supplements
Infants 400 IU/d (32 oz formula)
88
Scoliosis
Curvature of the spine in the coronal plane, rotation of spinal column
Adolescent idiopathic scoliosis - after 10, most asx
Dx: plain XR - Cobb angle >10 degrees
Tx: observation (most), bracing, surgery
89
Spondylolisthesis
MC L5-S1
Anterior slip of vertebrae -> palpable step off
Subacute back pain, worse with exertion or hyper extension
Knee flexed, hip flexed gait
Neurologic dysfunction - rare urinary incontinence
90
Juvenile idiopathic arthritis
```
Late childhood, early teens
Nonmigratory arthropathy (1+ joint) for more than 3 mo
```
Subtypes:
Pauciarticular - few joints - 3-4, never hip
Polyarticular - many
Systemic onset - spiking fevers, maculopapular rash, HSM, LAD, elevated WBC, anemia (looks like leukemia) - sxs start first
Tx:
NSAIDs -> corticosteroids, anakinra, canakinumab, methotrexate, cyclosporine, tacrolimus
F/u - ophtho eval for uveitis
91
Childhood hydrocephalus
Noncommunicating: obstruction of the CSF in the fourth ventricle
Communicating: dysfunction of the subarachnoid cisterns or arachnoid granulation (problem with reabsorbing CSF)
```
Presentation:
bulging fontanelles
Increased Head growth
Dilated scalp veins
Lethargy, vomiting, Poor appetite, Irritability
Headache
Diplopia, papilledema
poor skull suture fusion (older)
```
Dx:
LP - measure pressure
US, CT, MRI - expanded ventricles
Tx: acetazolamide or furosemide temporarily
Shunting
Complications:
Increased risk of epilepsy, bacterial infection with shunt
50% mortality before 3 if untreated
92
Arnold-chiari malformation
Downward displacement of the cerebellar tonsils and medulla through the foramen magnum
Type I: MC and often asx
-headaches and/or cerebellar symptoms - 18 yo
Type II (of IV severity)
- other neuro anomalies - myelomeningocele
- detected at birth
- dysphasia, arm weakness
- stridor, apneic speels
- paralysis below myelomeningocele
93
Cerebral palsy
```
Risk:
Preemie
IUGR
Birth trauma
Neonatal seizure
Cerebral hemorrhage
Intrapartum hypoxia
Multiple births
Intrauterine infection - chorioamnionitis
```
Types:
Spastic - pyramidal tracts
dyskinetic - extrapyramidal
Features:
Encephalopathy - lethargy, decreased spontaneous movement, hypotonia, suppressed primitive reflexes
Spastic features: spastic paresis of any or all limbs, clonus present
Athetosis features: slow, writing movements in distal muscles
Choreiform features: rapid, irregular, unpredictable contractions of muscles in face or extremities
Dystonic features: uncontrollable jerking, writhing, or posturing
Persistence of primitive reflexes
Involuntary grimacing
Tendency to drool
Delayed psychomotor development
Atonic features: severe hypotonia at birth - no future ability to walk or stand
Associated disorders: MR, epilepsy, impaired speech, hearing, vision
```
Tx:
Muscle relaxation: botox, dantrolene, baclofen, benzos
PT
Surgery
Speech therapy - dysarthria
Special ed
Social and psych support
```
94
Tay-Sachs disease
AR - hexosaminidase A def
Progressive deterioration of nerve cells
Risk:
Ashkenazi Jew, Cajun, French Canadian
```
Presentation:
Normal development for first 6 months
Blindness
Deafness
Dysphasia
Muscle weakness
Paralysis
Death before 4
Cherry red macula
```
Dx: decreased hexosaminidase activity, DNA analysis
Tx: supportive
95
Retinoblastoma
MC intraocular tumor in kids, less than 2 yo
Rb gene - risk osteosarcoma
Presentation:
Decreased vision
eye inflammation
leukocoria - white reflex
```
Dx:
Chalky light gray retinal mass on dilated eye exam
-soft friable consistency
No CT - risk 2nd hit
MRI
```
Tx: enucleation, chemo, rad, cryotherapy, laserphotoablation
94% at 5 yr
96
When is a renal or bladder US (RBUS) indicated
child under 2 with febrile UTI
any age with recurrent febrile UTIs
any age with FHx of urologic disease, poor growth, or HTN
UTI does not respond to abx
97
when is a voiding cystourethrogram (VCUG) indicated
any age with 2 or more febrile UTIs
| any age with first febrile UTI + anomalies on US or temp over 39C and pathogen other than E. coli or poor growth or htn
98
posterior urethral valves
MC obstructive lesion
Abnormal tissue folds in the distal prostatic urethra
Thickened bladder wall, b/l hydronephrosis, megaureter
Suspected in utero with distended bladder and hydronephrosis (b/l) +/- oligohydramnios
Dx: VCUG
Tx: cystoscopic ablation of valves
99
Urethral displacement
Episadias - open on dorsum (top), associated with extrophy of bladder
Hypospadias - opening on ventrum (bottom)
Decreased foreskin ventrally - partial circumcision
DO NOT circumcise
Tx: surgical repair
100
Enuresis
after 5, treat after 7
Motivational thearpy
Restrict fluids before bed - increase daytime fluids
Enuresis alarm for classic conditioning - most effective
Oral desmopressin DDAVP
Secondary - psychologic or infection
101
Beckwith-Weidman Syndrome
hemihypertrophy
abdominal wall hernias
new born hypoglycemia
risk wilms tumor
102
Wilms Tumor
```
MC 2-4 yo
Palpable flank mass
Abdominal pain
Hematuria
Hypertension
```
Dx: renal fx
CBC
CT scan - abd for mets
CXR - mets
Tx: resect/nephrectomy
Chemo
10% B/L
103
WAGR syndrome
Wilms tumor
Aniridia
GU abnormalities
Retardation - mental
104
Autism spectrum disorder
Clinical features:
Deficits in communication and social interaction
-lack of responsiveness to others
-delayed language skills, difficulty with nonverbal communication, Poor eye contact, absence of social smile
Restricted or repetitive patterns of behavior:
- peculiar repetitive motor behaviors - rocking, spinning, hand flapping
- insistence on sameness, inflexible adherence to routine
- fixation or fascination with specific interests or objects
- hyperactivity or hyporeactivity to sensory input
Tx:
Behavioral therapy
Speech therapy
Social psychotherapy with peers and family
105
ADHD
Clinical features:
Attention deficit - decreased attention span, inability to complete tasks, forgetfulness
Hyperactivity - increased energy and impulsiveness, excessive talking, excessive motor activity
Diagnosis - six symptoms before 12, multiple settings
Tx: stimulants, SNRIs, alpha 2 agonists
106
Conduct disorder
```
Features:
Persistent pattern and behaviors that violate social norms and the rights of others
Aggressive behavior
Violence
Threatening/bullying
Destruction of property
Deceitfulness
Theft
Risk of drug use
```
Diagnosed in patients under 18
Tx:
Psychotherapy
Moods stabilizers
107
Oppositional defiant disorder
Clinical features:
Persistent pattern of disobeying authority and hostile behavior
No serious violations of social norms
No disregard for the rights of others
No aggression or violence
No illegal activity
No destruction of property or cruelty to animals
Tx:
Strict clear-cut rules and consequences
Well defined boundaries
108
Tourette's syndrome
Features:
Vocal tics
Motor tics
Tics occur daily and are worsened by stress
Present for at least one year
Diagnosed 10-11 yo, usually resolves by 18
Tx:
Behavioral therapy
Pharmacotherapy - alpha2 agonists (clonidine), Neuroleptics (fluphenazine or pimozide)
If refractory - deep brain stimulation of the globus pallidus, thalamus, or other subcortical targets
