Peds 2 Flashcards
Esophageal Atresia
Blind esophageal pouch w/ out w/out fistulous connection between proximal or distal esophagus and trachea
Autism spectrum disorder
Includes autism, Asperger syndrome, pervasive developmental disorder
Lack of interest in others, delayed language, resistant to change, behavior disturbances
Red flags of Autism spectrum disorder
Parental concerns of: deficits in social/language/behavior skills, frequent tantrums, intolerance to change
Not meeting milestones (not babbling/knowing words etc)
Loss of language or social skills at any age
Social Attention vs Joint Attention
Social: absent/limited interest, no eye contact/spacial awareness
Joint: don’t show/bring things to parents, can play alone
Universal screening for ASD
18 and 24 months, or earlier if needed: MCHAT-R/F testing (identifies at risk, not a diagnosis, NO’s are significant) score over 8 refer
ASD Treatment
Early intervention; meds for targeted symptoms (anxiety, oct, etc), vitamins, diets, hyperbaric oxygen
Behavioral and educational interventions
Asperger Syndrome
Symptoms not including significant language or intellectual impairment “high functioning” autism
Treat with symptom reduction
ADD/ADHD categories (2)
Hyperactive/impulsive: apparent by 4, peak by 7-8, hyperactive wanes after 8 but impulsivity persists
Inattention: apparent around 8-9, persists into adulthood
ADHD Hyperactivity Symptoms
Fidgety, “perpetual motion”, excessive talking, interruption, acts without considering consequences, difficulty staying seated
ADHD Inattention Symptoms
Reduced ability to focus, decreased speed of cognitive processing (daydream, “off task”)
Common in premies
Seems to not listen, difficulty organizing, loses thing, forgetful, easily distracted
ADHD Diagnosis (DSM5)
At least 6 symptoms for 6 months that must impair function academically, socially or occupationally
Symptoms present before 12 years and don’t occur during psychosis
No exclusion criteria for pts with ASD
ADHD Assessment Tools
Conners comprehensive behavior rating
ADHD rating scale
Vanderbilt assessment scales (only >4 years)
ADHD Management (not medications)
Eating and sleeping patterns, cardiac exam (BP, HR, auscultation, Marfan check) BEFORE meds
<6: behavioral therapy +/- meds
>6: meds +/- behavioral therapy
ADHD Medications
First line: stimulants
Second line: atomoxetine (strattera), alpha-2-adrenergic agonists
Oppositional Defiant Disorder Categories (3)
1-angry/irritable mood
2- argumentative/defiant behavior
3-vindictiveness
Oppositional Defiant Disorder Diagnosis
At least 4 symptoms from any category occurs for at least 6 months, exhibited during interaction with at least one person thats NOT a sibling
Interferes with social or academic functioning, doesn’t occur during psychotic episode
Oppositional Defiant Disorder Symptoms
Loses temper often, argues with adults, actively defies, deliberately annoys, blames other for mistakes/behavior, angry, resentful, spiteful, vindictive
Oppositional Defiant Disorder Management
Refer to psych for psychometric testing
CBT, psychotherapy, family therapy, anger management, etc
Conduct Disorder Categories (4)
Aggressive (harm others)
Property loss/damage
Deceitful or theft
Violation of rule/laws
Conduct disorder Diagnosis
At least 3 occur in last year with one in last 6 months
Changes to antisocial anxiety disorder if >18
Conduct Disorder Management
Refer to psych
Psychotherapy, CBT, fam therapy, anger management
treat other disorders
Esophageal Atresia Presentation
Only symptomatic within hours of birth (excess saliva, choking, cyanosis and respiratory distress)
Presents slower with tracheoesophageal fistulas
Esophageal Atresia Diagnostics
Prenatal US>MRI
Post-natal: NG tube and chest xray-tube in blind pouch, if gas is present theres a TE fistula distal o esophagus
Esophageal Atresia Treatment
NG tube in proximal pouch w/ low suction
Elevate head of bed
IV glucose, fluids, O2
Surgery
Coin Ingestion Diagnostics/Treatment
see round coin if in esophagus, just edge if in trachea
Retrieve if button battery (emergency), multiple magnets, or if it doesn’t move to stomach
GER
if no secondary symptoms just GER, resolves spontaneously; supportive care, avoid overfeeding
GERD
If failure to thrive, pneumonia, GI bleed, etc is GERD, usually resolves by 12 months, can thicken food with cereal or milk free for 2 weeks
PPIs but can increase infection risk
Nissen fundoplication
Eosinophilic Esophagitis Symptoms and complications
Feeding dysfunction similar to Gerd, long meal times, avoidance of textured food, no response to Gerd treatment
Causes esophageal food impactions and strictures
Eosinophilic Esophagitis Diagnosis
EGD: esophagus sprinkled w/ pinpoint white exudates (eosinophils) like candida
thickening, mucosal fissures, strictures and rings
Eosinophilic Esophagitis Treatment
Elimination of food allergens
Steroids (2 puffs of fluticasone BID 30 mins before food, without rinsing after)
Pica
Eating feces, clay, dirt, hair, ice, etc for at least 1 month
Zinc and iron deficiencies, ^lead
Treat with behavioral therapy and address deficiencies/possible lead poisoning
Rumination
Repeated regurg and rechewing of food for at least 1 month, MC in young kids
Causes cavities, malnutrition, weight loss, failure to thrive
Malabsorption associated with cystic fibrosis
Carbs (lactase deficiency), fat and protein (milk protein allergy)
Presentation of malabsorption
weight loss, malnutrition, diarrhea/steatorrhea, N/V, abdominal pain
Diagnostics of malbsorption
stool sample, dietary testing (removals), celiac and cystic fibrosis workups
Phenylketonuria (PKU)
most common inborn error of amino acid metabolism, decreased activity of phenylalanine hydroxylase
PKU Presentation
Intellectual disability (MC), fair hair and skin, atopic dermatitis, hyperactive, seizures, musty/mousy body and urine odor, epilepsy
PKU Diagnosis and Treatment
Newborn screening
Dietary restriction of phenylalanine (<6mg/dL/day) and aspartame
(restrict starches, proteins; supplements aminos, vitamins and minerals)
Common food allergies
Cow milk, fruit (citrus, strawberry), veggies (tomato), egg, fish, nuts, cereals
Presentation of food allergies
urticaria and angioedema MC
Rhinitis, swelling, asthma, anaphylaxis, N/V, abdominal pain, cramping, diarrhea
Food allergy diagnosis and treatment
IgE testing
epinephrine and H1 blockers
Celiac Disease
malabsorption of gluten causing abd pain, diarrhea, vomiting, bloating, constipattion
associated w/ diabetes, thyroiditis, downs, turner syndrome
Non-GI Celiac disease manifestations
delayed puberty, short stature, iron deficiency anemia
Celiac disease diagnosis/treatment
serology, duodenal biopsy (villous atrophy)
Gluten restriction improves intestinal mucosa within 6-12 months
Gastroschisis and Omphalocele
Abdominal wall defect causing GERD, volvulus, malabsorption
Discovered prenatally on US and elevated alpha-veto protein
Delivered c-section with surgical correction
Omphalacele
Membrane covered herniation of abdominal contents into base of umbilical cord
Gastroschisis
Uncovered intestine through small abdominal wall defect to right of umbilical cord
Increasing incidence bc of meth, coke, young mothers and ibuprofen use
Diaphragmatic Hernia
usually left sided, diagnosed on prenatal ultrasound around 8-10weeks
Can be associated with chromosomal abnormalities and dysmorphisms (craniofacial and extremity)
Diaphragmatic hernia presentation
Respiratory distress in first minutes-hours of life, may require aggressive resuscitation; scaphoid abdomen, barrel-shaped chest, bowel loops in chest with mediastinal shift on xray
signs of pneumothorax with decreased breath sounds
Diaphragmatic hernia treatment/complications
mechanical ventilation and decompression of GI tract with OG tube or surgical reduction
Can cause pulmonary hypertension, GERD, behavior problems
Indirect inguinal hernia
Most common in kids, more common than direct
passes lateral to epigastric vessels through inguinal canal (into testicle)
M>F, mostly right sided
Direct inguinal hernia
Passes medial and inferior to epigastric vessels, goes through Hesselbach triangle (not inguinal canal)
More common in older men
Hesselbach Triangle Borders
Fascia surrounded by: rectus abdominis muscle, inferior epigastric artery and inguinal ligament
Femoral inguinal hernia
follows tract below inguinal ligament through femora canal, medial femoral vein lateral to lacunar ligament
Often incarcerated or strangulated
F>M
Umbilical Hernias
More common in full term black babies, regress spontaneously; repaired if still there at 4 years old
Pyloric Stenosis*
Postnatal muscular hypertrophy of pylorus causing progressive gastric outlet obstruction
M>F, common in first born kids, whites
Pyloric Stenosis Symptoms
Projectile postprandial vomiting, Olive mass in RUQ is hallmark* (esp after vomiting)
upper abdominal distention, visible gastric peristaltic waves
Usually starts at 3-6 weeks
Pyloric stenosis diagnosis
Pyloric ultrasound: hypo echoic muscle ring >4mm thick w/ hyper dense center and >15mm pyloric channel length
Barium swallow: String sign in long pyloric channel
Pyloric stenosis treatment
Surgical repair (pyloromyotomy), high risk of chronic abdominal pain in childhood
Duodenal Atresia
Associated with trisomy 21
Blind pouch or stenosis
“double-bubble sign” on abdominal xray (dilated stomach and proximal duodenum)
Bilious (green) vomiting hours after birth
Surgically corrected
Short bowel syndrome
reduced intestinal absorptive surface typically after resection of intestine
Leads to alternation in intestinal function
Symptoms of short bowel syndrome
Diarrhea, dehydration, electrolyte/micronutrient deficiency, excessive gas, foul smelling stool
Treatment of short bowel status
Diet, TPN (total parenteral nutrition), enteral nutrition (g-tube), antacids, PPIs, antibiotics, surgery
last resort-intestine transplant
Intussusception
Most common bowel obstruction in first 2 years of life, most commonly proximal to ileocecal valve
M>F
Causes of intussusception
85% idiopathic
viral (rotavirus), carcinoma (lymphoma MC >6), henoch-schonlein purpura
Symptoms of intussusception
Red currant jelly stools* (pathognomonic), healthy baby develops recurrent severe, crampy belly pain, vomiting, diarrhea
Palpable right-sided sausage shaped mass
Intussusception diagnostics
Barium + air enema-diagnostic and therapeutic
Ultrasound most sensitive/specific
Xray: target sign
Intussusception Treatment
Air enema is best if stable
Non-operative (contrast enema, hydrostatic or pneumatic pressure)
Successful reduction likelihood decreases after 24 hours
Hirschsprung Disease
Congenital aganglionic megacolon- no neurons in anal sphincter causing functional obstruction>dilation with gas and feces
MC chromosomal abnormality associated with hirschsprung disease?
Down syndrome
Presentation of Hirschsprung disease
Usually in infants: Failure to pass meconium followed by vomiting, abdominal distention and reluctance to feed, bilious emesis
Explosive expulsion of gas and stool after DRE
Hirschsprung disease in older kids
Constipation alone-foul smelling ribbonlike stools, no visible stool on anal and rectal exam
Hirschsprung diagnosis
Rectal biopsy: lack of neurons
X-ray-dilated proximal colon w/out gas in pelvic colon
Barium enema: dilated colon, narrow distal segment with sharp transition to normal colon
Hirschsprung treatment
Surgical removal of aganglionic bowel, reconstruction
Leads to fecal incontinence, retention, constipation and enterocolitis
Meckel’s Diverticulum
Bulge in small intestine containing cells from stomach and pancreas
rule of 2’s: 2 inches long, 2 feet from ileocecal valve, occurs after 2 years old
Whats the most common congenital anomaly of the GI tract?
Meckels diverticulum
Presentation of Meckels diverticulum
Usually asymptomatic
PAINLESS lower GI bleed, can mimic appendicitis, recurrent/atypical intussusception, obstruction
Diagnosis/treatment of Meckel’s Diverticulum
CT angio or arteriography
Meckel’s scan (radionuclide)
Surgical resection IF symptomatic
Newborn Jaundice complications/treatment
Brain injury if high bili persists (kernicterus)
Treat with phototherapy, may need transfusion
Gilbert’s Syndrome
Autosomal dominant hyperbilirubinemia
Jaundice without increased bili levels (usually <3-6), normal biopsy and LFTs
Diagnosis/Treatment of Gilberts syndrome
Increase of 1.4mg unconj bili after 2 day fast
No treatment
What 4 areas does cystic fibrosis affect?
Lung, pancreas, intestine and liver
Symptoms of cystic fibrosis
Pancreas: fat soluble vitamin deficiency, diarrhea, steatorrhea
Intestine: intussusception, carb intolerance
Liver: steatosis, cirrhosis, neonatal jaundice
When to suspect cystic fibrosis?
Any child with meconium ileus, cholestasis, recurrent URI/lung disease or malabsorption
Diagnosis/treatment of cystic fibrosis
Newborn screening, sweat chloride test
Oral supplement of pancreatic enzymes, ours for cholestasis
Biliary/choledochal cysts (presentation, diagnosis, treatment)
Recurrent RUQ pain, fever, vomiting, obstructive jaundice, pancreatitis or R abdominal mass
US or MRI to diagnose
Surgery once stable
Biliary atresia
Progressive fibroinflammatory obliteration of lumen of extra hepatic biliary tree
Presentation of biliary atresia
Urine stains diaper and stools pale yellow, gray or echoic
Firm hepatomegaly common
failure to thrive by 6 months
Asians, blacks, premies in 1st 3 months
Diagnosis and treatment of biliary atresia
Ultrasound to rule out choledochal cyst Kasai procedure (hepatoportoenterostomy)
Imperforate anus
Congenital defect when opening of anus is absent or blocked
develops within 5-7 weeks of pregnancy
Presentation and treatment of imperforate anus
Infant fails to pass meconium, greenish bulging membrane obstructing anal aperture
Surgery
Pilonidal Cyst risk factors/treatment
overweight, deep cleft
Surgical opening and draining of sinus, sitz bath
Enterobiasis (pinworms)
intense ana pruritis
Scotch tape test
Pyrantel pamoate for whole family
Encopresis
repeated pooping in inappropriate places for 3 months >4 years of age
Behavioral-educational therapy
If meds needed, miralax, laxatives
Causes of chronic constipation
dehydration, excessive milk intake, lack of fiber
meds (antihistamines, narcotics)
thyroid disease, cerebral palsy
Treat with P fruits, miralax
UTI Presentation
Newborns/infants: high fever, vomiting, jaundice, cloudy foul smelling urine
preschool kids: abd/flank pain, vomiting, fever, frequency, dysuria, enuresis; CVA tenderness unusual
School aged: frequency, dysuria and urgency; pyelonephritis with fever, vomiting, flank pain, CVA tenderness
UTI Diagnosis
Urine culture of midstream clean catch, may need catheter
UTI Treatment
<3 months, dehydrated or septic: admit for IV antibiotics
Older: empiric amoxicillin, bactrim, reflex for 7-10 days
Vesicoureteral reflux
reflux of urine from bladder into upper urinary tract
common in kids with febrile UTI <2 years old
Short ureters is MC form, then blockage
Diagnosis of vesicoureteral reflux
hydronephrosis on prenatal US-repeat at 1 week; if bilateral also do VCUG
Postnatal: Renal/bladder US, if febrile-VCUG
VCUG Reflux grades
Grade I – reflux into the ureter no dilation
Grade II – Reflux to the kidneys
Grade III – Reflux to the kidneys w/ dilation of ureter only
Grade IV – Reflux w/ dilation of ureter and mild blunting of renal calyces
Grade V –Reflux w/ dilation of ureter & blunting of reflux calyces
VUR Treatment
Monitor grades 1/2, consider antibiotics
Grades 3-5: bactrim or nitro regardless of age
Posterior urethral valve (PUV)
MC etiology of urinary tract obstruction in newborn male
Diagnosis of PUV
prenatal US: bilateral hydronephrosis, distended thickened bladder; possible oligohydramnios
Post natal: VCUG
PUV Treatment
Prenatal surgery-vesicoamniotic shunt
Postnatal: correct electrolyte abnormalities, foley cath, transurethral catheter ablation
Enuresis
urinating in clothes >5 at least 2x/week for 3 months
secondary: after at least 6 moths of dryness
Nocturnal enuresis
Associated with constipation, sleepapnea
limit liquids before bed, bedwetting alarms
meds: desmopressin acetate (limit fluids to avoid hyponatremia) or imipramine
Diurnal (daytime) enuresis
accident 1 every 2 weeks
more common in females, UTI, encopresis, nocturnal enuresis
Urinary incontinence causes
overactive bladder, voiding postponement, underachieve bladder, dysfunctional voiding
Exstrophy of bladder
open, inside-out bladder
M>F, more common in first born whites
Presentation of exstrophy of bladder
open bladder, exposed urethra, low bellybutton, anterior anus, outward rotation of pelvic bones, genital defects (esp in males)
diagnosis/treatment of exstrophy of bladder
prenatal US, confirmed with MRI, otherwise at birth
Treatment: induced delivery/planned c-section, surgery within 72 hours
Imperforate hymen
one of MC obstructive lesions of female GU tract
treated surgically
Presentation of imperforate hymen
neonate: bulging introitus at birth/asymptomatic
Adolescent: amenorrhea, cyclic abdominal or pelvic pain, hematocolpos (bluish color of hymen membrane)
Hypospadias
Ventral placement of urethral opening
Associated with cryptorchidism
DO NOT CIRCUMSIZE!
Hypospadias treatment
repair before 18 months
With cryptorchidism: pelvic US, karyotype, serum electrolytes
Cryptorchidism
hidden/undescended testes (by 4 months)
risk of infertility and testicular malignancy
surgery (orchiopexy) if descent hasn’t happened by 6 months
MC congenital abnormality of GU tract?
cryptorchidism
Cryptorchidism testing
LH, FSH, inhibit B and testosterone to make sure testes are present
Testicular torsion
Twisted cord
“bell clapper” deformity, abrupt onset of severe pain, N/V, swelling, absent cremasteric reflex, negative phren sign
Doppler
Detorsion/fixation ASAP (4-6 hours)
Hydrocele
Fluid filled sac between parietal and visceral layers of tunica vaginalis, NO pain
common in newborns
resolve spontaneously by 1 year-surgery if not
Communicating vs non-communicating hydrocele
communicating: failure of vaginalis to close, fluid is peritoneal fluid, comes and goes
non-communicating: fluid comes from mesothelial lining, stays same size, needs further workup
Varicocele
dilated veins surrounding spermatic cord, more common on the left
may be asymptomatic, dull ache
“Bag of worms”
Manage conservatively- tight underwear
Androgen Insensitivity
Male resistant to androgens showing physical traits of a woman
Complete-looks like a girl at birth but no uterus, breasts but infertile and no menses
Partial- male and female characteristics; vagina with no cervix or uterus, inguinal hernia w/ testes
Varus vs Valgus
Valgus knock knees (aka genu valgum)
varus is bowed legs (aka gene varum)
Salter Harris 1
transverse physical fracture with widening
Salter Harris 2
Fracture through metaphysis and physis
Salter Harris 3
Fracture through physis and epiphysis
Salter Harris 4
Fracture through metaphysis, physis, and epiphysis
Salter Harris 5
Physical compression or crush fracture
what are the three most common fractures in kids?
Bowing, torus/buckle, greenstick
What ages do elbow bones present? (critoe)
Capitellum 1 year radial head 3 years internal/medial epicondyle 5 years Trochlea 7 years Olecranon 9 years External/lateral epicondyle 11 years
What is the most common pediatric elbow fracture?
Supracondylar fracture
Supracondylar fracture (MOI and diagnostics)
FOOSH from height with hyperextension
swelling and deformity
CHECK MEDIAN NERVE!
AP, lateral (90*) and oblique xrays
Supracondylar fracture management
Type1/2 posterior splint with wrap, sling, ibuprofen, elevation
Type 3 emergent ortho consult, NV concerns
Lateral Condylar Fracture presentation and diagnostics
Soft tissue swelling only laterally, tender to palpation on lat condyle
Xray AP, lateral oblique, MRI if needed
Lateral condylar management
Emergent referral if displaced >2mm
Splint, sling, NSAIDs, cast vs surgery
Lateral condyle complications
Nonunion, fish tail deformity, cubits valgus/varus deformities
Medial epicondyle fracture of distal humerus
Pitchers, dislocations
Xray: ap, lat, oblique
rule out incarceration of fragment joint
Medial epicondyl fracture of distal humerus Management
Emergent if entrapped fragment present
Splint including wrist, sling, NSAIDs, short term immobilization vs open fixation
Medial epicondyl fracture of distal humerus complications
ulnar nerve palsy, nonunion, angular deformity, decreased ROM
Radial neck fracture MOI and presentation
FOOSH w/ valgus stress, dislocation/relocation of elbow
TTP over radial head/neck, pain with supination/pronation, wrist pain in young kids
Radial neck fracture diagnostics and management
Xray: AP, lat, external oblique
Immobilize to wrist, Sling, NSAIDs, Cast vs surgery
Radial neck fracture complications
loss of ROM, nonunion, premature physeal closure
Nursemaids elbow
Subluxation of radial head, mostly from 1-3 years from sudden pull of pronated arm (swing while walking)
Nursemaids elbow presentation
Arm fully extended or slightly flexed/pronated, refusal to move arm (may use fingers), pain over radial head, increases with supination
No imaging required
Nursemaids elbow management
reduction by hyperpronation w/ radial head pressure or supination/flexion with radial head pressure
lollipop test to check if it worked
Capitellar osteochondrosis “panner disease” presentation
irregular articular surface of capitellum
Males 5-10, throwing arm, baseball, gymnastics
rapid onset of deep lateral pain, limited extension and no locking
NOT TTP, pain/gaurding with passive extension, lateral pain with values stress
Capitellar osteochondrosis management
Ice, NSAIDs, rest
+/-PT with gradual return to play
avoid elbow stress until symptom free, unremarkable exam, xray healing
Monteggia fracture
Ulnar (or radial + ulnar) shaft fracture WITH dislocation of radial head
Xray of arm and elbow to rule out isolated ulnar fx
Wrist Fracture causes
Direct fall/FOOSH, direct trauma
Common types/presentation of wrist fractures
Distal radius typically at metaphysis, +/- ulnar involvement
Point tenderness, swelling, ecchymosis
Wrist fracture management
emergent with significant deformity/NV compromise
Splint and NSAIDs
Cast, +/- reduction vs surgery
What do we need to rule out in femur fractures?
Child abuse! esp <1 year
Femur fracture presentation
Pain in groin/buttock, unable to bear weight
leg slightly adducted with external rotation if proximal
Femur fracture diagnostics and management
MUST XRAY ENTIRE FEMUR!
Hip spica cast vs surgery
Can cause shortening/lengthening or angulation
Patellar sleeve fracture
MC patella fracture <13
Caused by forced extension with knee flexed, happens at superior or inferior poles
Knee mobilizer, non-weight bearing, elevation, NSAIDs
Toddler’s fracture
Commonly kid falling while running/twisting, diagnosed clinically or xray
Splint or boot, non-weight bearing, elevate
Ankle fracture xrays
AP, mortise, lateral, internal and external oblique
Triplane Fracture of ankle
Often caused by external rotation
Salter Harris 3 on AP and 2 on lateral view>SH4
Must get CT to assess displacement
Surgical fixation vs closed reduction
Torticollis
Sternocleidomastoid contracted and shortened causing head tilt with chin rotation; rule out plagiocephaly
Stretch, PT
Scoliosis imaging and treatment
Cobb angle, AP/PA standing X-rays TLSO brace (boston, Milwaukee,charleston bending), 25* Surgery with internal rod fixation if 45*
Osteochondritis Dissecans (OCD)
Idiopathic osteonecrosis of subchondral bone, 10-20 years, usually from repetitive trauma/stress, vascular disruption, ischemia, genetics
OCD Locations
Elbow (chronic valgus stress, teens, throwing, gymnastics)
Knee (repetitive axial loading, preteens; MC LOCATION)
Other more likely in adults
OCD Presentation
Gradual onset poorly localized pain (lateral w/ decreased ROM in elbow)
swelling
Popping, locking, catching
OCD Diagnostics
flattened articular surface on xray, MRI if needed
Elbow: guarding, knee: gait disturbance
OCD Treatment
Stages 1-3 avoid running/jumping, may need immobilization, +/- PT
Surgery if loose intra-articular body (stage 4) or skeletally mature patients-drilling (for vascularity) and fixation
Septic Hip vs Transient synovitis*
Present similar- leg flexed, abducted and ext rotated, refusal to bear weight
Septic often febrile and ill appearing, transient often after viral illness
Kocher Criteria*
Diagnostic of septic hip WBC>12,000 ESR>40 Fever >101.3 Nonweight bearing on affected side 2/4=joint aspiration 4/4=septic
Management of septic/transient Hip
High dose NSAIDs, rest-if they help its transient!
Septic: admit to hospital with emergent ortho referal-drainage and IV antibiotics
Leg-calve-perthes disease
Idiopathic avascular necrosis of femoral head
MC in thin, active white boys 4-8
Presentation of Leg-calve-perthes disease
Limp by end of day, occasional pain in knee/hip, limped internal rotation/abduction of hip
Diagnosis/treatment of Leg-calve-perthes disease
May be diagnosed clinically, confirm with xray
Observation, PT for ROM, surgical realignment if needed
Slipped capital femoral epiphysis (SCFE) presentation
Obesity is significant risk factor, minorities 10-16
Limp or non-weight bearing w/ dull/achy hip or knee pain
Restricted abduction and internal rotation
Slipped capital femoral epiphysis (SCFE) Diagnostics/treatment
Xray: AP pelvis an frog lat both hips, MRI if negative xrays
URGENT surgical consult for screw fixation
if non weight bearing>admit to hospital
Developmental hip dysplasia risk factors
first born female/twins, breech pregnancy, fam history
What is the most common orthopedic condition in newborns?
developmental hip dysplasia
Exams for hip dysplasia
Galeazzi: limb length difference w/ supine and legs at 90
Barlow: flex, adduct and push back
Ortolani: flex, abduct, push back/out to lift trochanter
Management of hip dysplasia
Pavlik harness (95% success if started by 6 weeks) avoid swaddling/tight clothes
Osgood-Schlatters disease
Inflammation and irritation of patellar tendon insertion on tibia tubercle, traction at tibial tubercle apophysis
Common in jumpers (flares in girls 10-11, boys 13-14)
Osgood-schlatters presentation
Enlargement or bony protrusion of tibial tubercle with focal tenderness
Diagnostics and management of osgood-schlatters disease
Lateral xrays to rule out avulsion
rest, ice, NSAIDs
quad/hammy exercises
Chopat strap
Calcaneal apophysitis “Sever’s disease”
Irritation and inflammation of calcanea apophysis; overuse syndrome, pull of achilles
kids 6-12
Treated with stretching, ice, NSAIDs
Clubfoot (congenital talipes equinovarus)
CAVE: mid foot caves, forefoot adducts, hind foot varus and equinus
Smaller foot and calf with shortened tibia
Clubfoot risk factors and treatment
maternal smoking, fam history Ponsetti method (takes years) or casting (weeks) both multiple stages
Adolescent age range
starts 10-12 ends 18-21
Period of physical, social and emotional development
Top 5 causes of teen deaths
accidents (cars) #1, homicide, suicide, cancer, heart disease
Puberty
biologic process of child turning not adult (reproductive, adult size)
Girls usually done 11.5-12 years, boys 13.5-14 years
Early adolescence
10-13 years
Cognitive :interested in NOW, deeper moral thinking, abstract thought
social emotional: awkward about self/body, increased conflict with parents, desire for independence, want privacy, moody
Middle adolescence
14-16 years
Cognitive: greater capacity for goal setting, meaning of life
Social emotional: self-involved, drive for independence, love and passion (safe sex talk), worries about being normal
Late adolescence
> 17 years
cognitive: ability to think ideas through, increased concern for the future
Social emotional: firmer sense of self identity, develop more serious relationships
Menarche
2-2.5 years after pubarche (during stages 3-4)
first period often only from effect of estradiol, not ovulation
first year usually irregular
When is the first visible sign of puberty in boys?
9-10; enlarged scrotum, pink and altered texture (tanner stage 2)
When is first sperm production (spermarche)?
14-15, stage 4-5
What is the MC reasons adolescents don’t seek care?
don’t want to tell parents
When can minors consent without parent? (in AZ)
emancipated, married, homeless
Care relates to: STI, alcoholism, HIV testing
if 12+: rape, substance abuse (parents notified once admitted for treatment)
adolescent pregnancy consent
If considered “mature minor” can consent
in Az: can consent for Childs care but not her own
Mental Health adolescent consent
Inpatient treatment requires parental consent unless emergent situation, outpatient requires consent
Minor consent on abortion
Minors can not consent unless: emancipated, judicial bypass, pregnancy result of incest, pregnancy harmful to patient
When is disclosure required by law?
Abuse, suicidal ideation, homicidal ideation, reportable STIs
When do we start dyslipidemia screening?
19-21, earlier (11-14) if risk factors like high BMI, fam history
Whats the largest preventable and most costly public health problem in US?
Adolescent substance abuse (alcohol most common, then cigarettes, then marijuana)
What regions of brain are impacted by adolescent substance use?
Judgment, attention, memory, reward seeking
Adolescent presentation of depression
boredom, hopeless, weight changes substance use, suicide attempts
parents report irritability
Adolescent depression treatment
refer to pets behavioral health
meds: fluoxetine (prozac) only one approved in kids 8+ for a min of 8 months
monitor for suicidality (combination with psychotherapy is most effective)
3rd MC chronic illness in adolescent girls?
eating disorder (obesity and asthma 1 and 2) F>M 10:1
Presentation of anorexia nervosa
Decreased body temp, bradycardia, dizzy, decreased peripheral circulation, thin hair/nails, dry skin, early satiety, depression
Bulimia nervosa presentation
abdominal pain, early satiety, diarrhea/constipation, depression, dehydration, orthostatic hypotension, enamel loss, cavities, bruising/thickening of finger joints, parotid pain/enlargement
Usually average height weight or overweight
Diabulimia
Diabetic patients skipping insulin dose to lose weight
Binge eating
eating more rapidly than normal, until uncomfortably full
1/week for 3 months with no compensatory behaviors
50% are obese
What are the types of genetic testing?
fetal (ultrasound, amniocentesis, carrier screening)
newborn screen
chromosome test (karyotype, FISH, genomic hybridization)
Specific gene or enzyme testing
Fragile X syndrome
X-linked, M>F, many meet autism criteria
Decreased/absent “fragile x mental retardation protein FMPR” due to loss of function of FMR1 gene (200->1000 repeats of CGG)
Female carriers exhibits mild-severe symtoms
Most common inherited cause of intellectual disability?
Fragile x syndrome
Presentation of fragile X syndrome
Intellectual disability, oblong facies, large ears/testicles, hyper mobile joints, mitral valve prolapse
+/- macrocephaly
Diagnosis of fragile X
Direct DNA analysis: abnormal DNA amplification
Test in developmental delay, mental retardation, autism diagnosis
Management of fragile X
Speech/language therapy, occupational therapy, behavioral psychologist
meds for ADHD, aggression, anxiety, mood instability
Angelman syndrome cause
Inactivation or deletion of UBE3A gene on maternal chromosome 15
very rare
Angelman syndrome presentation
Happy, excitable, frequently smile/laugh
Microcephaly, seizures, tongue thrusting, autism, intellectual disability, poor language development
Angelman syndrome management
No cure; epilepsy drugs, PT, speech therapy
Most develop <10 words in lifetime
Prader-willi syndrome
Characterized by childhood obesity due to hyperphagia
Lack of expression of genes on paternal chromosome 15 with inactive copy on maternal chromosome 15
Loss of OCA2 gene in some>light skin and hair
Presentation of Prader-willi
Hypotonia in infancy (feeding tube)
Insatiable appetite leading to obsessive chronic hyperphagia
almond shaped eyes, strabismus, sleep apnea, short, small hands/feet, hypogonadism
Diagnosis and treatment of prader-willi
Genetic testing recommended in newborns with hypotonia
Treat: GH injections, speech therapy, PT, OT
Congenital adrenal hyperplasia
Autosomal recessive disorder of CYP21A2 gene causing 21-hydroxylase enzyme deficiency causing virilization (too many androgens), increased ACTH secretion (impaired cortisol synthesis) and salt loss (impaired aldosterone synthesis)
Congenital adrenal hyperplasia Presentation
Females: ambiguous genitalia, adrenal insufficiency in 2-3rd week of life, early pubic hair (age 2), excessive acne/pigmentation, deep voice, short
Males: normal at birth, salt loss in 2-4 weeks of life, enlarged penis, hyperpigmentation
Diagnosis and treatment of congenital adrenal hyperplasia
Newborn screen Hormone studies (elevated 17-hydroxyprogesterone) Treat with steroid replacement (small dose of glucocorticoid and mineralocorticoid) genital reconstruction for females
Maple syrup urine disease
Psychomotor retardation, feeding problems, maple syrup odor in urine
Autosomal recessive amino acid disorder-deficiency of enzyme that breaks down leucine, isoleucine and valine (milk, eggs, meat) resulting in elevated keto acids
Maple syrup urine disease presentation
Normal at birth
by 1 week: poor feeding, vomiting, lethargy; results in seizures, coma, encephalopathy, death if untreated
Maple syrup urine disease Diagnosis and treatment
Newborn screening panel, amino acid analysis
Dietary restriction of eggs, meat and milk, fluids and diuresis in episodes of decomposition
If started in first 10 days can develop/grow normally
Osteogenesis Imperfecta
Rare genetic connective tissue disease, “brittle bone”
Mutation of type 1 collagen (COL1A1), most due to spontaneous mutation
Type 1 Osteogenesis Imperfecta
mildest- bone fragility without deformity and blue sclera
Type 2 Osteogenesis Imperfecta
lethal, usually stillbirth, intrauterine fractures
Type 3 Osteogenesis Imperfecta
Moderately severe, bony deformities due to multiple fractures, blue sclera, extremely short, lung disease, wheelchair by teens
Type 4 Osteogenesis Imperfecta
mild, increased fractures after birth, bowing of long bones
Presentation of Osteogenesis Imperfecta
Accessory skull bones (wormian bones), blue sclera, hypo plastic/deformed teeth, thin skin, hearing loss
Diagnosis/treatment of Osteogenesis Imperfecta
Clinical
biochem tests (collagen biopsy), DNA analysis
No cure; bisphosphonates! swimming for exercise, hearing checks
Prognosis in Osteogenesis Imperfecta
respiratory failure is most common cause of death in adults
Tay-sachs disease
autosomal recessive, neurogenerative disease
Enzyme deficiency causing buildup of glycolipid in lysosomes (“storage disease”)
Common in European (Ashkenazi) jews
1/25!
Tay-sachs presentation
Normal until 2-6 months>progressive weakness, loss of motor skills (hypotonia/reflexia), cherry red macula, hyperacusis (exaggerated startle response), intellectual disability, seizures, vision loss
Long, narrow head, broad ribs, hook-shaped vertebrae, enlarged sella turcica
Diagnosis/treatment of Tay-sachs
Enzyme assay
Feeding tubes, enzyme infusions, death usually by 4 years
Trisomy 21
Prenatal testing: quad screen, nuchal translucency
3 copies of chromosome 21
Cardiac defects, hearing loss, visual problems, characteristic facies, GI defects
Most common chromosomal abnormality in live births?
trisomy 21/down syndrome
Trisomy 18/Edward syndrome
3 copies of 18 or translocation
Many die before birth-1 month
Club foot/rocker bottom, low set ears, small jaw, clenched hand, kidney/heart defects
Trisomy 13/Patau Syndrome
3 copies of chromosome 13
Cleft lip/palate, polydactyly, secures, small jaw, heart defects, brain/spinal cord abnormalities
Many die within first days-weeks
Cri-du-chat syndrome
Deletion of part of short arm of chromosome 5
Cat-like cry, wide set eyes
Turner Syndrome
45X, affects female development
Short, broad chest, webbed neck, amenorrhea, infertility (nonfunctional ovaries), CV abnormalities
Klinefelter syndrome
Extra X, 47XXY
Affects male development
Hypogonadism, infertility, gynecomastia, reduced hair
Many first trimester losses
Fetal alcohol syndrome
growth retardation, CNS dysfunction, facial dysmorphology (small eyes, smooth philtrum, thin upper lip)
heart and joint defects, failure to thrive, mental deficiency, ADHD, sensory impairment, cerebral palsy, epilepsy
Fetal alcohol syndrome management
Assess family for addiction
Learning support, social/employment skills programs, OT, PT, ST, etc
