Inborn Errors of Metabolism

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Transcript Inborn Errors of Metabolism

Board Review 2/1/2013
We are going to do Adolescent for the next two
board reviews….yay! Who likes adolescents?
A. I do! They are amazing!
B. A 17 yr old female with abdominal pain is my
worst nightmare
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Sports participation is increasing.
The benefit of playing sports is multi-factorial
 Children involved in sports learn leadership and
cooperative skills.
 Organized sports can be a source of needed physical
activity.
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Pre-participation evaluation (PPE)
 Utility has been questioned, as it likely does little to
prevent morbidity and mortality in screened athletes
 However…the AAP endorses these exams because it
allows for establishment of a medical home and more
effective well child care!
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The PPE is required before practice and play by
most sporting organizations
 Typically required every 1-2 years (for middle and high
school athletes)
 To shield the organization from liability
 To ensure that the athlete can participate safely in sports
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Should be scheduled at least 6 weeks in advance to
allow time for appropriate follow-up if warranted
Various formats
 Office-based with the pediatrician
 Station-based at the school
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Similar to typical history obtained at WCC
 PMH, PSH, social history, developmental history
 ALWAYS important to get the parent’s input, as there are
often inconsistencies
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Medications: Review all medications and determine if
any are banned substances, which may require a
therapeutic use exemption (TUE)
Musculoskeletal: current injuries; any history of injury
requiring evaluation, casting, bracing, surgery, or missed
practice/play
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>90% sensitive at identifying musculoskeletal injuries
Pulmonary: Baseline lung disease, exercise induced
asthma, vocal cord dysfunction, etc.
Neurologic: any history of concussion, “stingers”,
cervical cord damage/symptoms
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Dermatologic: ask about skin wounds/infections and
ensure proper resolution before return to play
(especially contact)
Ophthalmologic: Patients may require appropriate
lenses for a specific sport (ie. contacts only for wrestling,
boxing, and rugby).
If best corrected vision is worse than 20/40 in one eye
(“functionally one-eyed”), must wear approved eyewear!
ID: Mononucleosis precludes from sports for 3-4 weeks,
HIV/hepatitis or other blood-borne illness does not
preclude…universal precautions
Heat illness: past diagnosis increases future risks
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Genitourinary:
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Few components of the GU history will disqualify an athlete or
require modified participation.
 Solitary or horseshoe kidney require individual assessment
for contact or collision sports
 Protective equipment
 Risks v. benefit
Pain in inguinal canal region suggesting hernia
Female athlete triad:
 Disordered eating
 Amenorrhea
 Osteoporosis
Psychological: Eating disorders (especially in weight
restricted sports and aesthetic sports), depression/anxiety,
ADHD (meds)…
Which of the following would NOT require referral
to a cardiologist before clearing your patient for
sports participation?
A. Known congenital heart disease
B. Marfan Syndrome
C. A 2/6 systolic vibratory/musical quality murmur
at the left lower sternal border
D. Family history of prolonged QT syndrome
E. Cardiomyopathy
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Component of the
PPE that receives the
most attention
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The AHA
recommends
particular
components of the
cardiovascular history
and exam prior to
sports participation.
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Red flags that need investigation by cardiology!
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Known congenital heart disease
Channelopathies (long QT or Brugada Syndrome)
History of myocarditis or coronary anomalies (ie.
Kawasaki disease)
Family history of sudden cardiac death
Marfan syndrome
Cardiomyopathy
Must be worked up by PCP or Cardiology…
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Syncope, near-syncope
Chest pain, palpitations, excessive SOB or fatigue with
exertion
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ALL patients with syncope should have an EKG, with
further testing as indicated.
Post-exertional syncope
Common
 Benign condition that should be differentiated from
exercise-associated collapse
Exercise-associated collapse
 Occurs DURING exertion
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An ominous sign of hemodynamically significant
cardiovascular disease or ventricular
tachyarrhythmias
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Vital Signs: often different than non-athlete…low HR,
wide pulse pressure, low resting RR
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BP should be normal, and any elevation requires
evaluation and treatment
Mild-moderate HTN (>95%): encourage sports
 Severe HTN (>5mmHg over the 99%): disqualify from
sports with high static demand, heavy weights and
powerlifting
HEENT: Visual acuity (special protection if not better than 20/40),
auricular cartilage, nasal septum…ENT referral if damaged
Neurologic: Any past history should prompt a thorough exam
Musculoskeletal: the PE adds little diagnostic value to the
history, cursory evaluate strength and ROM if no complaints
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Genitourinary: not necessary in female unless complaints;
for males…
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Bilateral testicles? If only one testicle…protective cup.
Inguinal hernia exam in patients history of groin pain.
Cardiovascular:
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Any cardiac abnormality that is not clearly benign should be
FULLY evaluated by a cardiologist before sports participation.
Screening echo and EKG are NOT part of the PPE.
As the sports physician for the local high school
football team, you are asked to lecture some
coaches on safe sports participation. Which of
these do you counsel them is an ABSOLUTE
contraindication to playing football?
A. Seizure disorder
B. Diabetes mellitis
C. HIV
D. Febrile illness
E. Sickle cell disease
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Any condition that cannot be well-controlled and puts the
athlete at risk of significant injury or death OR endangers the
health of teammates or competitors requires further
evaluation and disqualification from a sport.
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The PCP’s first responsibility is to ensure the safety of the
patient
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BUT…the physical and psychological benefits of exercise and
sports participation should also factor into the decision to
restrict sports participation for a patient.
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IF a physician disqualifies an athlete from one sport, he/she
should attempt to direct them to another sport!
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ABSOLUTE contraindication to both sports practice
and competition!
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Puts athlete at risk
 Acute heat illness
 Reduced maximal exercise capacity
 Hypotension
 Decreased PVR
 Possible dehydration
You are seeing a 5 yo male with Down Syndrome.
He is participating in the Special Olympics in a
few months. Which test do you want to order
before clearing him for participation?
A. Echocardiogram
B. EKG
C. Pulmonary function tests
D. MRI of the neck
E. Cervical spine X-rays
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Children with Down Syndrome often require
interdisciplinary care to maximize their health outcomes
and quality of life.
Cervical Spine Instability
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Primarily atlantoaxial but also occipitoatlantal
Reported in up to 30% of patients
MUST get radiographic evaluation of the cervical spine
before sports participation!
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NO collision sports, even if normal films
Abnormal x-rays: disqualify from “neck stressing” sports
(diving, butterfly stroke, gymnastics, high jump, soccer)
Other medical conditions should be evaluated, too
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Well-controlled seizures
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Should NOT be disqualified from sports participation.
Think of “return to driving” laws and necessary seizurefree interval!
Poorly controlled seizures
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Individual assessments should be made to determine
suitability for contact/collision sports
AVOID
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Archery, riflery
Power lifting, weight lifting, weight training
Swimming
Sports involving heights (parachuting, hang-gliding)
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Patients are allowed to participate in sports without
restriction.
Monitoring and treatment often becomes more
complex with the varying demands of organized sports!
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Careful evaluation and monitoring are essential
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Blood glucose
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Check more frequently
Q30 minutes during continuous exercise, 15 minutes after
completion, and at bedtime
Diet
Insulin dose and type
Hydration status
Which of the following patients with a known
medical condition is NOT disqualified from
sports participation?
A. Cardiomyopathy
B. Hypermobility Ehlers-Danlos syndrome
C. Acute Kawasaki disease
D. Severe aortic stenosis
E. Severe aortic regurgitation
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Conditions that DISQUALIFY from sports participation
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Pulmonary vascular disease with cyanosis or significant rightto-left shunt
Severe pulmonary stenosis (untreated)
Severe aortic stenosis or regurgitation (untreated)
Severe Mitral stenosis or regurgitation (untreated)
ANY cardiomyopathy
Vascular Ehlers-Danlos syndrome
Coronary anomalies (especially anomalous origin)
Catecholaminergic polymorphic V-tach
Acute pericarditis, myocarditis, or Kawasaki disease
**ANY CV disease should be thoroughly evaluated and
treated by a pediatric cardiologist to ensure safe
participation in sports!
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NO contact sports
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Splenomegaly
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Mono or mono-like illness: risk of splenic rupture
 Any athlete with this illness should be disqualified from sports
with risk of abdominal trauma for 3-4 weeks after symptoms
start
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Acute hepatomegaly
Contagious skin lesions (until treated and resolved)
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Single organs
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Kidney (single or horseshoe)
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Avoid high contact sports
Individual assessment required for other contact/collision sports
(weigh risk v. benefit)
Others
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Appropriate protective gear.
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Caused by an inability to maintain a normal body
temperature
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Excess heat production
Decreased heat transfer to the environment
Normal heat transfer mechanisms are overwhelmed and
central thermoregulatory control is ineffective
Heat stroke = MEDICAL EMERGENCY
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Arises when cellular injury is caused by the excess body
temperature
Core temp > 105.8 (41C) for more than a short time =
thermal injury
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Proteins denatured
Injured cells undergo apoptosis or necrosis
Which of the following clinical findings typically
distinguishes heat exhaustion from heat stroke?
A. Severe neurologic dysfunction
B. An elevated core temperature
C. Signs of dehydration
D. Nausea and vomiting
E. Confusion
 Heat stress
 Discomfort and physiologic strain from exposure to a hot environment
 Core temperature remains within the normal range
 Decreased exercise performance but usually no other symptoms
 Heat Exhaustion
 Elevation of core body temperature (100.4-104) after strenuous
exercise OR exposure to high temperatures
 Mild dehydration, +/- sodium abnormalities
 Intense discomfort, confusion, thirst, nausea, and vomiting
 NO severe neurologic symptoms
 Heat Stroke
 Elevation of core body temperature >104
 Neurologic dysfunction
 Symptoms: dry skin, dizziness, confusion, syncope
 The incidence of heat stroke is greater during periods of
unusually high temperatures.
 This is compounded for young children and infants
because they have less tolerance to exercise than adults
when air temperature is greater than body temperature!
 Risk factors
 Prolonged exertion in a warm, humid environment
 Dehydration
 Infants and young children: over-bundling or left in cars
during the summer
 Disabled patients and elderly (can’t remove themselves
from environment
 Should be considered in any patient with significant core
temperature elevation (>104) and mental status changes.
 Multi-system illness
 Elevated temperature
 CNS dysfunction: delirium, coma, seizures
 Severe damage not observed until the rectal temp >
105.8
 Hypotensive shock
 Initially due to peripheral vasodilation
 Later because of cardiac damage
 GI: swelling, hemorrhage, and hepatic damage
 Renal failure
 Prerenal azotemia with BUN:Cr ratio >20
 Hematologic abnormalities: anemia, thrombocytopenia,
coagulopathy
What is the MOST important FIRST step in treating
your patient with heat illness?
A. Volume resuscitation with IVF boluses
B. Immersion in ice water to drop temperature
C. Removal from heat and cessation of exercise
D. FFP and platelets
E. Immediate intubation even if the patient is
breathing adequately initially
 Phase 1: Immediate removal from the heat source,
cessation of exercise, and hydration
 Phase 2: Cool the patient to < 104 as rapidly as possible
to prevent ongoing injury
 Immersion in ice water may be most effective
 If not practical…simple evaporative cooling
 May be as effective as some active cooling
measures
 Less uncomfortable for the patient
 Phase 3: Supportive Care
 Shock
 IV rehydration for all heat stroke and MOST heat exhaustion
(can use chilled IVF if temp > 104)
 Vaspressors
 Hematologic and coagulation abnormalities
 Monitor CBCs and coags
 FFP and platelets if bleeding occurs
 Neuro changes
 Anti-seizure meds: phenytoin often used
 Close Na control to decrease risk of cerebral edema
 Respiratory failure is usually central, and minimal vent
support is usually required
 Hepatic damage typically resolves spontaneously; liver
transplant is a last resort
What is the most likely long-term outcome that
you will see in a patient who has suffered from a
moderate-to-severe heat stroke?
A. Chronic renal failure
B. Hepatic dysfunction requiring liver transplant
C. Persistent anemia and thrombocytopenia
D. Death
E. Behavioral changes and poor coordination
 Mild heat stroke: generally recover uneventfully with
normal neurologic function when tested several months
later
 Moderate-to-severe heat stroke:
 Risk of sequelae is higher, especially if core temp > 107.6
 Generally recover from hepatic and renal injury
 Neurologic injury is often permanent
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Behavior changes
Impaired memory
Ataxic gait, poor coordination
Dysarthria, decreased visual acuity
 Up to 1/3 with spasticity and pan-cerebellar syndrome
 Mortality for severe cases = 10%
 Risk assessment with the heat index chart 
 Recognizing signs of heat illness…excessive fatigue,
confusion, muscle cramps at onset
 Proper hydration during ALL practices and competition!!
 Significant amounts of sodium are lost in sweat, so
electrolyte replacement is essential
 Encourage liquids containing electrolyte solutions (sports
drinks)
 Adults: 500mL within 2h prior to exercise, 250mL q20
minutes during exercise
 Acclimation to warm conditions 3-4 days before
competing
 Light colored, loose fitting clothes
 Some sports place an emphasis on weight and body
mass…either a lean image or a more muscular
appearance.
 Youth often resort to unhealthy, pathologic dieting and
exercise practices, supplement use, and drug ingestion to
reach a desired weight.
 Healthy weight changes
 Weight loss: should not exceed 1.5% of total body
weight/week or 1-2 pounds/week
 Weight loss beyond these guidelines causes breakdown of
muscle, resulting in muscle weakness
 Appropriate diet for most athletes = minimum of 2000
kcal/day
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Preventative conditioning should include both aerobic
conditioning and strength training.
The most significant risks to athletes involve strength
training, but this can be minimized
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High repetition with low resistance
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1st teach proper technique with no weight
Add small weight increments as strength increases
20-30 minute sessions, 2-3 days per week
Power lifting programs should NOT be undertaken by
preadolescents (middle school) because of the risk of
injury…immature skeletal system
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Muscle strain
Epiphyseal injury to the wrist
Apophyseal injury
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Quadriceps
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Trauma can be associated with a significant amount of
blood lost into a deep hematoma of the thigh
Rarely enough to cause hypovolemia or VS changes
Complications
 Myositis ossificans (up to 9%)
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Bone formation in injured muscle 3-4 weeks later
Firm, nontender swelling
Peripheral calcification on plain radiograph
Typically resolves over months; may rarely require
surgical excision
Treat any hematoma with ice, compression, NSAIDs,
and early mobilization!
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Closed head injury is a common medical problem
in young athletes
 Yet majority of concussive episodes are not reported
 Incidence is unknown but roughly 300,000 cases per
year in the US
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High and medium-contact sports carry a greater
risk for head injury compared to noncontact
sports
Which of the following is NOT characteristic of a
concussion?
A. Impairment of neurologic function resolves with
aggressive cognitive reconditioning
B. Pathophysiology involves traumatic biomechanical
forces
C. Neuropathologic changes are more indicative of
functional derangement rather than structural
injury
D. Neuroimaging typically is grossly normal
E. Symptoms can include confusion, amnesia, and
insomnia
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Significant head injury
which causes an alteration
in consciousness
 Confusion, amnesia, visual or
hearing impairment,
irritability and mood changes,
difficulties with balance,
headache, lethargy, insomnia,
memory impairment, n/v
 Neurologic impairment is
rapid onset, short-lived, and
tends to resolve
spontaneously
 Neuroimaging is grossly
normal
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Multiple tools available to
grade the severity
Which of the following statements regarding the
understanding and management of a head injury is
FALSE?
A. A sequential progression of activity is a critical aspect
of return to play criteria after a concussion
B. A history of previous concussion is irrelevant to the
management of a current concussion
C. Postconcussive syndrome can happen even after a
minor concussion
D. Patients with persistent signs and symptoms of
concussion should be referred for neuropsychological
assessment
E. Second impact syndrome is associated with a mortality
rate of 70-80%
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For patients with persistent signs and symptoms
or for symptoms that recur with exertion 
 Neuropsychological assessment
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Postconcussive Syndrome
 Residual symptoms from a concussion
 Can exists after ANY grade of concussion
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Second Impact Syndrome
 A second closed head injury while the patient is still
symptomatic from the first injury
 Rapid and progressive brain injury
 70-80% mortality
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When player’s symptoms have resolved AND
when he/she has demonstrated the ability to
progress stepwise through several levels of
activity without recurrence of symptoms
Advancement between steps ONLY if there are
NO symptoms
 If symptoms do recur, the athlete should rest for 2448hrs before trying to progress again
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Each regimen should be individualized to each
athlete and progress monitored by those with
appropriate training
Complete rest; mental and physical
Light (low-intensity) aerobic exercise such as
walking; NO resistance
Activity specific to the sport such as running
or skating; may add minimal resistance
Training drills without contact, followed by
mental status testing
Full-contact training after clearance by
medical personnel
Which of the following sports accounts for
the greatest percentage of cervical spine
injuries in the youth in United States?
A. Synchronized diving
B. Wrestling
C. Soccer
D. Boxing
E. Football
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C-spine injuries occur most often in medium and
high-contact sports
 Typically occur through a ‘head-first’ mechanism
 In the US: football poses greatest risk for injury
 50% of ALL c-spine injuries
 **don’t forget about water sports!!**
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Preparation:
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On-site emergency personnel (or ability to access EMS)
Discussion with a certified athletic trainer
Immobilization equipment available
Understanding of the steps required to manage an acute
cervical spine injury
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Initial Management
 ABCs!!
 Remove face mask to assess airway
 Do NOT remove helmet or shoulder pads
 These help ensure neutral alignment of the c-spine
 If found prone, log roll to supine position
 One person at head; two at body
 Head turns at same speed as the body
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Improper handling of a neck injury increases the
risk for neurologic deficiency**
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In all patients with suspected c-spine injury
 Keep neck immobilized until bony injury can be ruled
out
 Xrays of the c-spine: 5 views
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AP
Lateral
Flexion
Extension
Odontoid
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Return to play criteria after suspected c-spine
injury with NORMAL radiographic findings:
 No pain with motion of the cervical spine
 No pain with palpation of the cervical spine
 No report of radicular symptoms emanating from the
cervical spine
 Results of all neurologic examinations and associated
tests are normal
 **Must be evaluated by a physician prior to return to
play**
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First step in diagnosis:
an accurate history
 Most common
mechanism is inversion
 Eversion injury
associated with more
severe injury
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Most common reason
for ankle injury is
incomplete healing of
previous injury
Which of the following injuries is the most
likely in an athlete with open growth plates
who has inverted their ankle during play?
A. Fracture of the 5th metatarsal
B. Rupture of the achilles tendon
C. Sprain of the posterior talofibular
ligament
D. Fracture of the fibular physis
E. Dislocation of the ankle
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Physical exam:
 Observation and inspection
 Watching the patient walk can help differentiate
between a ligament injury or a more serious fracture
 Ankle exam
 Inversion mechanism: injury to lateral portion of foot
and ankle
 Anterior and posterior talofibular ligaments
 Proximal 5th metatarsal
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Inverted ankle injury in a patient with OPEN growth
plates 
 Fracture of the fibular physis (growth plate)**
 MOST LIKELY injury in this type of patient
 MORE common than a sprain in this age group!!
 On exam: pain on palpation of lateral ankle
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X-rays must be obtained for any suspected bony
injury
 Ankle: 3 views
 Foot: 3views
 if 5th metatarsal fracture is suspected
Which of the following is NOT part of the management
for uncomplicated ankle injury (no bone specific
tenderness; normal xrays)
A. Rest, Ice, Compression, and Elevation for the first
5-7 days
B. A process of ankle mobilization over time that
begins with range of motion movements of the
ankle
C. Progressive strengthening of the ankle using a
device such as an elastic band
D. Referral to physical therapy if the pain persists for
more than 2-3 weeks
E. Allowing complete healing of the ankle injury prior
to returning to play
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Management of uncomplicated ankle injury
(No bone-specific tenderness)
 RICE (rest, ice, compression, elevation) for the first
48hrs
 Progressive ankle mobilization
 Start with ankle movement
 Trace alphabet with first toe
 Strengthening exercises
 Elastic band to flex against resistance
 3 sets of 15 repetitions; daily for 6 weeks
 If ankle injury persists after a few weeks  refer to
physical therapy
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Answer must be NO to all questions:
 Is there any limitation of normal athletic function with
the injury?
 Is there any ongoing swelling or loss of motion in the
affected joint?
 Has the proper preventative strategy been employed?
 i.e. Ankle strengthening for ankle injuries
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Applies to any injury to shoulder, knee, stress
fracture, shin splints, as well
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Free of pain and swelling before and after
exercise
Full range of motion, flexibility, and stability
95% of normal strength
Recommend a stepwise return to competition
 Gradual increases in duration and intensity of practice
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Pediatric and adolescent athletes who have
sustained knee injuries often present initially to
their primary care doctor
Damage to the bone, ligaments, or cartilaginous
structures may occur, depending on the
mechanism of injury
Which of the following clinical tests would be most
appropriate in diagnosing an MCL tear?
A. Inspection and range of motion
B. Lachman test
C. Anterior drawer test
D. McMurray test
E. Valgus stress test
Age /
Gender
Mechanism of
injury/ Sport
Exam findings
Imaging
Treatment
Refer?
Tibial tubercle fracture
M>F
14-16 yrs
Tubercle growth plate
weak during puberty;
sudden deceleration
or quadriceps
contraction 
fracture
Knee held in
flexion, point
tenderness+/swelling
Lateral xray of
knee shows
fracture
Immobilize,
non-weight
bearing; Refer
to ortho
Yes
Osgood-Schlatter
M>F
9-14yrs
Chronic excessive
force on tibial
tubercle; rapidly
growing adolescents;
jumping and squatting
Tenderness and
swelling over
tibial tubercle
Lateral knee
xray can show
swelling and
fragmentation
of tibial
tubercle
Rest, ice,
NSAIDs
Self-limited
Resolves once
growth plates
close
If conservative
management
fails
ACL tear
F>M
Sudden deceleration
and twisting of the
knee (cutting and
pivoting)
+Lachman
+anterior drawer
Early: Inability to
bear weight,
effusion,
Late: knee
instability
Xray: avulsion
fx of lateral
tibial plateau
Immobilizer,
non-weight
bearing
Elective
outpatient
referral in 710days
+Valgus stress
testing shows
laxity of MCL
MRI for
equivocal cases
Rest, ice,
NSAIDs,
crutches
Hinged kneebrace acutely,
followed by
early
mobilization
and PT
If conservative
management
fails
MCL tear
M=F
Valgus force on the
knee with foot
planted; often during
collision or awkward
fall
Medial knee pain
MRI
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Anterior drawer test
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Leg at 90 degrees
Foot stabilized
Grasp proximal tibia
Pull leg forward
Lachman test
 Flex knee to 15-30 degrees
 Pull tibia forward with one
hand
 Hold femur stationary
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Excessive anterior tibial
forward motion on either
test signifies ACL injury
Age /
Gender
Mechanism of
injury/ Sport
Exam findings
Imaging
Treatment
Refer?
Tibial tubercle fracture
M>F
14-16 yrs
Tubercle growth plate
weak during puberty;
sudden deceleration
or quadriceps
contraction 
fracture
Knee held in
flexion, point
tenderness+/swelling
Lateral xray of
knee shows
fracture
Immobilize,
non-weight
bearing; Refer
to ortho
Yes
Osgood-Schlatter
M>F
9-14yrs
Chronic excessive
force on tibial
tubercle; rapidly
growing adolescents;
jumping and squatting
Tenderness and
swelling over
tibial tubercle
Lateral knee
xray can show
swelling and
fragmentation
of tibial
tubercle
Rest, ice,
NSAIDs
Self-limited
Resolves once
growth plates
close
If conservative
management
fails
ACL tear
F>M
Sudden deceleration
and twisting of the
knee (cutting and
pivoting)
+Lachman
+anterior drawer
Early: Inability to
bear weight,
effusion,
Late: knee
instability
Xray: avulsion
fx of lateral
tibial plateau
Immobilizer,
non-weight
bearing
Elective
outpatient
referral in 710days
+Valgus stress
testing shows
laxity of MCL
MRI for
equivocal cases
Rest, ice,
NSAIDs,
crutches
Hinged kneebrace acutely,
followed by
early
mobilization
and PT
If conservative
management
fails
MCL tear
M=F
Valgus force on the
knee with foot
planted; often during
collision or awkward
fall
Medial knee pain
MRI





Medial-sided knee pain
Varying degree of
tenderness to palpation
Effusion and local
ecchymosis may be
present
ROM is normal
MCL integrity tested by
valgus stress testing in
full extension AND at 30
degrees of flexion

text
At extension: knee remains stable
as long as the cruciate ligaments
and posterior capsule are intact
At 30 degrees: MCL is primary
stabilizer
Which of the following is an indication to refer a
patient with prepatellar bursitis to an orthopedic
surgeon?
A. Swelling superficial to the patella that extends
outward > 1cm
B. Negative findings on an xray
C. Patients with significant erythema, tenderness,
and swelling with a fever of 103.20F
D. Pain despite treatment with tylenol x 1 day
E. The biggest game of the season is tomorrow
and they really really want to play
Age /
Gender
Mechanism of
injury/ Sport
Exam findings
Imaging
Treatment
Refer?
Discoid meniscus
M=F
4-9yrs
Abnormally shaped
meniscus
No history of trauma
Symptoms
exacerbated by
physical activity
‘snapping’ or
‘popping’ of knee
+McMurray test
Xrays normal
MRI shows
‘bow-tie’
shape of
meniscus
Supportive; refer
if pain prevents
physical or daily
activity
Yes if pain
prevents
physical or
daily activity
Osteochondritis
dissecans
M>F
10-13yrs
Unknown cause;
Destruction of
subchondral bone on
undersurface of
normal articular
cartilage 
Necrosis of articular
surface of joint 
Separation of
overlying cartilage
Can result in
fragmentation of the
affected bone
Stable: Joint pain
aggravated by
activity;
Unstable: Have
feeling of joint
instability but
none found on
exam; +/- point
tenderness,
+/- effusion
Xrays to
evaluate joint
surfaces and
patella
MRI (test of
choice) shows
extent of
lesion
Stable lesion:
activity
modification,
NSAIDs
Unstable: refer
for surgery
For unstable
lesions or
failure of
conservative
management
Prepatellar bursitis
M>F
Repeated kneeling
(baseball catcher,
wrestler) leads to
inflammation of the
prepatellar bursa
Swelling,
tenderness,
erythema of
prepatella
Pain with knee
flexion
Not useful
Rest, ice,
compressive
dressing
Large fluid
collection can be
aspirated
For septic
bursitis or
failure of
conservative
management

McMurray test
 Usually positive with
meniscal abnormalities
 Hip flexed to 90 degrees
and knee maximally flexed
 Knee extended gradually
while applying valgus
force and external rotation
of tibia
 Provides axial load and
rotational force to the
meniscus  painful
Age /
Gender
Mechanism of
injury/ Sport
Exam findings
Imaging
Treatment
Refer?
Discoid meniscus
M=F
4-9yrs
Abnormally shaped
meniscus
No history of trauma
Symptoms
exacerbated by
physical activity
‘snapping’ or
‘popping’ of knee
+McMurray test
Xrays normal
MRI shows
‘bow-tie’
shape of
meniscus
Supportive; refer
if pain prevents
physical or daily
activity
Yes if pain
prevents
physical or
daily activity
Osteochondritis
dissecans
M>F
10-13yrs
Unknown cause;
Destruction of
subchondral bone on
undersurface of
normal articular
cartilage 
Necrosis of articular
surface of joint 
Separation of
overlying cartilage
Can result in
fragmentation of the
affected bone
Stable: Joint pain
aggravated by
activity;
Unstable: Have
feeling of joint
instability but
none found on
exam; +/- point
tenderness,
+/- effusion
Xrays to
evaluate joint
surfaces and
patella
MRI (test of
choice) shows
extent of
lesion
Stable lesion:
activity
modification,
NSAIDs
Unstable: refer
for surgery
For unstable
lesions or
failure of
conservative
management
Prepatellar bursitis
M>F
Repeated kneeling
(baseball catcher,
wrestler) leads to
inflammation of the
prepatellar bursa
Swelling,
tenderness,
erythema of
prepatella
Pain with knee
flexion
Not useful
Rest, ice,
compressive
dressing
Large fluid
collection can be
aspirated
For septic
bursitis or
failure of
conservative
management

Common cause of
chronic anterior knee
pain
 Athletes who engage in
running, jumping, squatting**

Females> males
 Wider pelvis  higher Q
angle  more susceptible
to PFS

Q angle
 Angle between a line from
the anterior superior iliac
spine (ASIS) to the patella
and a line from the patella
to the tibial tubercle
Of the following, which is not an initial
treatment for Patellofemoral Syndrome?
A. Knee bracing and patellar taping
B. NSAIDs
C. Outpatient referral to orthopedics in 7-10
days
D. Physical therapy
E. Core strengthening

Present with vague anterior knee pain
 Worse with activities that require knee flexion with weight
bearing
 Stairs, deep squatting, crawling

Diagnosis/ Imaging
 History and physical exam
 Imaging only useful to exclude other conditions
 Treatment: Goal to improve patellar tracking
 Knee bracing, patellar taping
 PT: iliotibial band stretching, medial quad strengthening
 Core strengthening to improve pelvic control and minimize
medial knee deviation

Refer to Ortho
 If 4-6 months of PT do not provide relief




Overuse injuries
Eye injuries
Protective equipment
Shoulder, Elbow, Wrist injuries



Overuse injuries are common in child athletes
Characterized by repetitive microtrauma to bone
and tendon
Gymnasts sustain foot and hand injuries due to
frequent load bearing during handstands, etc
 Overuse injury of the radius is common
 Major concern is radial epiphysitis which may result in
impaired linear growth of the affected bone**
 Necrosis of the navicular bone is seen with fracture
(usually occult)
 May also cause impaired growth of the wrist in children and
limit movement
 Watch for Salter Harris fractures

Treatment:
 Rest, ice, and anti-inflammatory medications
 Exercise that does not aggravate the injury but
preserves conditioning may be continued
during recovery
 Can be prescribed for the athlete by the coach and
trainer, often in consultation with a sports medicine
specialist


Evaluation of an eye injury must happen before return to
play**
Initial evaluation:
 Identification of the timing, mechanism, and location of the
injury
 Assessment of visual symptoms
 Change in vision?
 Flashing lights or floaters?
 Physical examination

Initial management directed at preventing any increase
in intraocular pressure**
 NO direct pressure to the eye
 Eye protection using an eye shield
 Patient positioning
 Recumbent positioning with the head of the bed at 45 degrees
 Avoid meds that increase IOP
 I.e. Ketamine

Eye examination:
 Inspect the face/lids for injury
 Lid contusions and lacerations should raise suspicion for globe or
orbital injury





Palpate rim of the orbit for deformities
EOM
Evert the lid to look for foreign material
Visual acuity with a Snellen chart
Evaluation of the globe:
 Inspection of the conjunctivae for foreign bodies and hemorrhage
 Cornea: assessed with a penlight and fluorescein stain/blue light for
abrasions or evidence of penetration
 Pupils: reaction and symmetry
 Abnormally shaped pupil strongly suggests the presence of an open globe**
 Anterior chamber/iris/lens should be inspected with a penlight and, if
possible, slitlamp
 Look for hyphema, uveitis, or lens dislocation
 Lastly, the fundus should be examined




Collection of blood in the anterior chamber of
the eye between the iris and the cornea
Visual disturbances, photophobia, eye pain
Nausea, vomiting, lethargy
Treatment






Goals: Prevent rebleeding and prevent increased IOP
Consult Ophtho (this is an emergency)
Protective eye SHIELD (not occlusive dressing)
Recumbent positioning – head at 30-45o
No medications into the eye
Avoid NSAIDs for potential effects of platelet function

Mouth injuries (along with other head injuries)
account for the majority (48%) of youth baseball
injuries
 Injuries generally are caused by contact with sports
equipment (eg, the bat, the ball, and the base)

Other injuries
 Leg, groin, and chest
 Testicular injury: less common
 Use of a protective cup in ALL sports is recommended to
prevent testicular injury


Even with the use of a helmet, mouth guards
protect further against injuries of teeth and oral
mucosa
The American Association of Orthodontists
recommends that mouth guards be used for the
following sports:
 baseball, football, soccer, basketball, wrestling,
softball, ice and field hockey, volleyball, and lacrosse


Most are sports related
Most involve anterior displacement of the humeral head
 Resulting from posteriorly directed force on an abducted,
extended arm
 Arm is held slightly abducted and external rotation
 Humoral head may be palpated inferiorly to the mid-clavicle on
the affected side
 Can compress the axillary nerve
 Numbness over the deltoid and inability to abduct or extend the
shoulder

Initial Management





Sling immobilization with a pillow or blanket
Analgesics
Xrays: AP, lateral , axillary views (axillary is most sensitive)
Should be reduced urgently under procedural anesthesia
Sling and swathed after reduction for 2-4 weeks

Posterior elbow dislocation is the most common
joint dislocation seen in children
 Fall onto outstretched hand with flexed elbow
 Elbow pain and olecranon prominence on exam
 Can cause nerve injury
 Most commonly affects the ulnar nerve (see in 10%)
 Decreased sensation over 5th finger, loss of wrist flexion and
finger abduction
 If seen  need urgent reduction
 Can cause brachial artery injury
 Decreased radial pulse, pallor, forarm paresthesias
 If seen  urgent reduction

Acute management:
 Arm splinted, analgesia, referred emergently to ortho

“Little League Elbow” = elbow pain in skeletally immature
athlete who participates in “overhead sports” (baseball, softball,
swimming, gymnastics)
 Apophysitis of the medial epicondyle
 Seen most commonly in 9-12yr old athletes


Swelling and tenderness on exam
Xrays are typically normal
 Can show hypertrophy or fragmentation of the medial epicondyle or
subtle apophyseal widening

Treatment




Rest for 4-6weeks
Ice, oral analgesics
Elbow brace for flexion contracture
Once pain resolved completely, can slowing increase throwing
activities under supervision
 Most athletes return to play after 12 weeks




Fall onto outstretched hand
Tenderness over anatomical snuff box
Initial xrays are often NORMAL
Treatment:




Thumb spica splint
Ice, analgesia
Follow up with ortho and repeat films in 7-10days
High risk of malunion, nonunion, avascular necrosis
 This type of fracture has a poor prognosis