Pediatrics Flashcards
Weight trends
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
Height trends
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
causes of macrocephaly
cerebral metabolic disease - Tay-Sachs, maple syrup urine disease
neurocutaneous syndromes - neurofibromatosis, tuberous sclerosis
hydrocephalus
increased ICP
Skeletal dysplasia
acromegaly
Intracranial hemorrhage
causes of microcephaly
fetal toxin exposure - fetal alcohol syndrome chromosomal trisomies congenital infection cranial anatomic abnormalities metabolic disorders neural tube defects
Car seats
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
APGAR score
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
Calorie content per ounce of breastmilk vs formula
20 kcal/oz each
Caloric needs in infant less than 6 mo
100-120 kcal/kg/day
Single umbilical artery
get renal u/s - check for abnomalies
Anterior fontanelle closure
normal by 24 mo
Delayed consider: downs, achondroplasia, rickets, congenital hypothyroidism, increased ICP
Early - monitor head circumference for craniosynostosis
Craniotabes
soft occipital bone - like ping-pong ball
3-12 mo
highly suspicious for rickets
Signs of dehydration in child - mild
Skin turgor mucous membranes Tears Fontanelle CNS HR Capillary refill Urine output
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
Signs of dehydration in child - moderate
Skin turgor mucous membranes Tears Fontanelle CNS HR Capillary refill Urine output
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
Signs of dehydration in child - severe
Skin turgor mucous membranes Tears Fontanelle CNS HR Capillary refill Urine output
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
Failure to thrive in under 2 yo
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
tanner stages for penile/testicular development
(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
Early adolescence (10-13) psychosocial development
concrete thinking and early independent behavior
Middle adolescence (14-16) psychosocial development
emergency of sexuality - identity, beginnings of sexual activity
increased desire for independence (conflict with parents, need for guidance, self absorption)
development of abstract thought
Late adolescence (17-21) psychosocial development
increased self-awareness, increased confidence in own abilities, more open relationship with parents, and cognitive maturity
Klinefelter syndrome
47, XXY Tall thin body Gynecomastia Testicular atrophy Infertility Mild retardation Psychosocial adjustment abilities
Turner syndrome
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
Down syndrome
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”
Edward syndrome
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
Williams syndrome
Elfen type face - upward turn nose, Long philtrum
Mild retardation
Cheerful
Cardiac defects
Velocardiofacial Syndrome
del 22q11
DiGeorge Sn - T cell deficiency, hypocalcemia Cleft palate Truncus arteriosus, Tetralogy of Fallot Mild retardation Overbite Speech disorder
Patau syndrome
Trisomy 13
Severe intellectual disability Cleft lip and palate Rounded nose Polydactyly Cardiac and CNS defects
Angelman syndrome
mom Ch15
MR Seizures Ataxia Inappropriate laughter "happy puppet"
Prater Willi syndrome
dad Ch15
Hyperphagia -> obesity Short MR Tantrums, skin picking, OCD Hypogonadotropic hypogonadism Incomplete sexual development Osteoporosis - Child Delayed menarche
Cri-du-chat syndrome
Small head
Low birth weight
MR
FTT
High-pitched cat like cry
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
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
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
Branchial cleft cyst
Lateral neck
Does not move with swallowing
Thyroglossal duct cyst
Midline neck
Moves with swallowing
Most common neck cyst
Associated with ectopic thyroid tissue
Blood shunting in fetus
Ductus venosis
Foraman ovale
ductus arteriosis
path of highest O2 blood in fetus
umbilical v -> ductus venosis -> IVC -> right atrium
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
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
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
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
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
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
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
Tricuspid atresia
Tricuspid valve does not develop
- RV often hypoplastic
- incompatible without ASD and VSD
ECHO
Tx:
Prostaglandin E
Surgical repair
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
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
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
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
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
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
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
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
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
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
CXR in respiratory distress of newborn
low long volumes
Diffuse groundglass appearance with air bronchograms
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
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
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
FB aspiration
6mo-4 y
Stridor
Coins usually esophagus
Right main stem bronchus - more vertical
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
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
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
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
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)
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
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
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
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
Desquamation of hands and feet - ddx
Scarlet fever
kawasaki disease
Toxic shock syndrome
acrodyna of mercury poisoning
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
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
Acute and unilateral cervical LAD in child
usually bacterial
S. aureus, group A strep > anaerobes, group B strep
Chronic and unilateral cervical LAD in child
Bartonella henseale - cat scratch fever
Toxoplasmosis
TB -> scrofula
Actinomyces israelii -> sinus tracts drain pus
cervical LAD in child without infectious cause
Kawasaki disease
Hodgkin lymphoma
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
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
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
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
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
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
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
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
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
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
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
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
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)
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
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
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
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
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
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
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
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
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
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
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
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
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
Beckwith-Weidman Syndrome
hemihypertrophy
abdominal wall hernias
new born hypoglycemia
risk wilms tumor
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
WAGR syndrome
Wilms tumor
Aniridia
GU abnormalities
Retardation - mental
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
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
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
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
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
