orthopedic pathology (pediatric pathologies) Flashcards
Valgus/Varus Deformity
Describes distal bone relative to proximal joint
Valgus
Deviation away from midline of distal bone
Varus
Deviation towards the midline of distal bone
Coxa Vara
Aka coxa adducta, coxa flexa
Angle between NECK of femur and SHAFT is less than 120 degrees
Coxa Vara etiology
Etiology
Congenital/developmental or acquired
Developmental usually appears b/w ages 2 and 6.
acquired Coxa Vara associated with
SCFE, OI, infection (TB), trauma (rare)
SCFE = slipped capital femoral epiphysis
Coxa Vara female vs male
Female=male
diagnosis
Xray
Relative elongation of greater trochanter
Appears enlarged and “beaked”
Coxa Vara symptoms
Can be asymptomatic
Mild shortening of limb
Limited abduction
Delay and difficulty in walking
Painless Trendelenburg (lurching) limp
—> I.e. gait problems
Coxa Vara treatment
Treatment – none or surgery
Coxa Valga
Femoral neck-shaft angle is greater than 135 degrees
Less common than Coxa Vara
Most commonly associated with neuromuscular disease such as Cerebral Palsy
—> Causes a lack of mechanical stimulation to growth plate and muscular imbalances.
WHAT IS COXA VALGA COMMONLY ASSOCIATED WITH
commonly associated with neuromuscular disease such as Cerebral Palsy
Genu Valgum
Aka knock knees
Knees touching, but ankles are apart (more than 3 inches apart)
Normal in children 2-3 years, should straighten out 5-6 years
Due to hypermobility of knee joint
—> Valgus deformity can result
which age is genu valgum common/normal
Normal in children 2-3 years, should straighten out 5-6 years
how much farther apart are ankles when knees touching?
ankles are apart (more than 3 inches apart)
MORE THAN THREE INCHES
Genu Varum
Aka bow legs
Ankles are touching, but knees are not when standing
Normal in infants – grow out of it in childhood
when is genu varum normal?
normal in infants
varus deformity and skeletal dysplasias / metabolic bone diseases
Varus deformity can be caused by skeletal dysplasias and metabolic bone diseases
E.g. osteogenesis imperfecta
what disease is related to varus deformity
Osteogenesis imperfecta
“Symptoms of more severe forms of OI may include: Bowed legs and arms.”
Torsion:
Femoral anteversion (internal torsion)
inward twisting of the femur causing the knee and foot to turn inward (pigeon toed).
Most obvious at age 5-6.
The condition usually normalizes by age 8-9
when is femoral anteversion most obvious?
When does it generally resolve on its own?
Most obvious at age 5-6.
The condition usually normalizes by age 8-9
what is treatment if femoral anteversion does not resolve on its own?
Treatment is surgery if it doesn’t self-correct
Typically only needed in cases of neuromuscular disease.
note about femoral torsion (E.g. anteversion)
this is rotation of the bone itself, not at the joint
Femoral Retroversion (External torsion)
external twisting of the femur causing the knee and foot to turn outward (flared feet).
Much less common than femoral anteversion.
Usually due to abnormal positioning in utero and will spontaneously correct by age 8
Treatment is surgery.
which is most common
femoral anteversion (leading to pigeon toes)
what is common cause of femoral retroversion?
abnormal positioning in utero and will spontaneously correct by age 8
Tibial torsion (internal)
Torsion is usually internal/medial
Internal tibial torsion will cause a toeing-in, which becomes more obvious as child begins to walk.
Internal tibial torsion will typically correct itself as they continue to grow and walk.
tibial torsion (external)
External tibial torsion has a poorer prognosis, because the tibia continues to externally rotate with growth.
This leads to deformity that worsens through late childhood and adolescents
which tibial torsion is usually worse
external tibial torsion
poorer prognosis, because the tibia continues to externally rotate with growth.
deformity that worsens through late childhood and adolescence
treatment for external torsion of tibia?
surgery (?)
tibial torsion
“Tibial torsion is the twisting of a child’s shinbone, also known as the tibia. In most cases, tibial torsion causes a toddler’s legs and feet to turn inward (internal tibial torsion), giving them a pigeon-toed appearance. Less often, the legs turn outward (external tibial torsion).”
Spina Bifida
Is a developmental congenital disorder caused by the incomplete closing of the embryonic neural tube
Some of the vertebrae overlying the spinal cord are not fully formed and remain unfused and open (neural tube defect)
Spina Bifida linked with…
Neural Tube Defects
Folate (B9) deficiency during pregnancy
what is the MOST COMMON congenital abnormality of the SPINE
Spina Bifida
2/1000
“bifida”
“bifid”
bifida = split
where does Spina Bifida most commonly affect?
m/c @ lumbosacral region
Spina Bifida etiology
Multifactorial
Genetic
Deficient maternal folic acid intake
Maternal diabetes or drug use
how is spina bifida detected?
Prenatal screening:
—> Alpha-fetoprotein (?)
—> Ultrasound (95%)
(??)
Spina Bifida, severity –> mild to severe
mild can have few/no symptoms
severe can lead to paraplegia
(Spina Bifida Occulta vs Spina Bifida Manifesta)
paraplegia etymology
“paralysis of the legs and lower body, typically caused by spinal injury or disease.”
para = beside
plegia = to strike
“to strike at side”
Spina Bifida Occulta vs Spina Bifida Manifesta
..
Spina Bifida Occulta
Results in only a bony defect
the spinal cord, meninges and spinal fluid remain intact
Spina Bifida Manifesta
Bony defects are found
also involves nervous tissue damage/displacement
meningocele (manifesta)
meningocele etymology
meninges
cele = Suffix meaning swelling, hernia, or tumor
Meningocele = meninges protrude from bifid end of vertebra (where SP is missing) (?)
myelomeningocele
not just meninges protrude, but also spinal cord
Myelo- = “Myelo- is a combining form used like a prefix meaning “marrow” or “of the spinal cord.””
medical management of spina bifida (Dx)
Diagnosis
Ultrasound
Blood test
Amniocentesis
amniocentesis define
“the sampling of amniotic fluid using a hollow needle inserted into the uterus, to screen for developmental abnormalities in a fetus.”
miscarriage risk of about 0.25 - 0.5 % (some studies say 1%)
amnio- = amnion
centesis- = pricking
spina bifida treatment
Pre or post-natal surgery, C-section (often breech birth)
fetal surgery
“Your surgeon first makes an incision in your abdomen to reach your uterus. Then, they make an incision in your uterus to reach the fetus. They keep the fetus inside your uterus while they operate. Then they close up your uterus and abdomen and let the pregnancy proceed to as close to term as possible.”
Klippel-Feil Syndrome
Failure of vertebral segmentation of C-spine
Congenital fusion (synostosis) between varying number of vertebrae
Can be any two or more of the 7 cervical segments
Etiology unknown possibly genetic
Very rare (less than 1%)
Klippel-Feil Syndrome features
Neck is short, stiff, webbed
Posterior hairline is low and transverse
Head tilted/high scapula
May be associated with a variety of other conditions including scoliosis, heart defects, spina bifida, etc.
Treatment – cosmetic surgery
what are some conditions associated with Klippel-Feil Syndrome
scoliosis,
heart defects,
spina bifida,
etc.
Hemivertebrae
Congenital triangular deformity of the body of the vertebrae
Usually co-exists with other vertebral anomalies
Usually occurs in upper lumbar and lower thoracic
Can lead to structural scoliosis
Can lead to neurological problems
where do hemivertebrae usually occur
lower thoracic and upper lumbar region
what are some complications of hemivertebrae
Can lead to structural scoliosis
Can lead to neurological problems
(Usually co-exists with other vertebral anomalies)
cause / risk factor for hemivertebrae formation
Lack of blood supply causing part of the vertebrae to not form
Clubfoot
Aka congenital talipes equinovarus (CETV)
Common congenital condition in which the foot is malformed in a specific position
congenital talipes equinovarus
talipes comes from TALUS and PES
ankle-foot
equinovarus:
equino comes from equine
“congenital ankle-foot horse varus”
why equino (?)
comes from limited dorsiflexion of foot
clubfoot severity, rate, gender ratio
Mild, moderate, severe
1/1000 live births
50% bilateral
Boys>girls (2:1)
can clubfoot (CTEV) be unilateral?
Yes
50% bilateral
clubfoot most common for boys or girls
boys (2:1)
ctev etiology
Idiopathic
Possibly genetic
Deformity develops early in embryo
Muscles of posterior and medial leg are unduly short
Fibrous capsules
thick and contracted
which muscles shortened (contractures)
posterior/medial leg
(Note contractures of calcaneal tendon)
(also contracture of Posterior talofibular lig)
fibrous capsules?
Thick and contracted (contractures)
(fibrous capsules of joints, including tibiotalar capsule (of talocrural), and talocalcaneal capsule)
appearance of clubfoot (CTEV)
Forefoot adduction and supination through the midtarsal joint
Heel varus through the subtalar joint
Equinus through the ankle joint (TIGHT CALCNEAL TENDON – contractures) –> limited dorsiflexion
Medial deviation of the foot relative to the knee
Equinus
When the ankle joint lacks flexibility and upward, toes-to-shin movement of the foot (dorsiflexion) is limited
congenital or acquired
clubfoot (CTEV) treatment
Performed early
Plaster casts
Splints
Orthotics
Surgery
Can take years to correct
Osgood-Schlatter’s disease
Common cause of knee pain in children and young adults usually between the ages of 10 and 15years
Occurs during a period of rapid growth combined with a high level of sporting activity
This results in pulling by the patella tendon on the tibial tuberosity resulting in the area becoming inflamed, painful and swollen
OS Sx
Pain at tibial tuberosity
Inflammation, tenderness
Pain with quadricep activity
Bony lump
OS Tx
Rest
Stretching of quadriceps
Knee support
massage
Sever’s Disease
(Aka calcaneal apophysitis)
Common heel injury
Common heel injury
Occurs is children who are physcially active, during a growth spurt
Sever’s disease (calcaneal apophysitis)
Sx
Pain and tenderness in one or both heels
Difficulty walking
Discomfort or stiffness in the feet upon awaking
Sever’s (calcaneal apophysitis)
Dx, Tx
Dx
physical exam, xray, MRI, bone scan
Tx
Rest
PT
NSAIDS
Legg–Calve Perthes disease
Associated with inadequate blood supply to part of the hip joint
Typically affects one hip
(UNILATERAL)
m/c among boys ages 4 to 10 years
Younger the diagnosis, better the prognosis
most common gender/age for Legg-Calve Perthes
m/c among boys ages 4 to 10 years
etiology
Inadequate blood flow to the femoral head
Causes deterioration, unstable joint
risk factors (Legg-Calve Perthes disease)
Risk Factors:
Caucasian
Boys>girls
Physically active children
Legg-Calve Perthes Symptoms
Limping
Pain and stiffness in the hip or knee
Limited ROM
Shortened leg on the affected side
complications
Complications:
Permanent hip deformity
Increased chance of OA
Dx, Tx
Physical exam, x-ray, MRI, bone scan
TX
Protect the hip from further stress and injury
Anti-inflammatories
PT
Crutches
Braces
Surgery
Chandler’s disease
Avascular necrosis of femoral head in adults
Associated with micro-emboli in the femoral head or trauma to the hip
embolus:
An embolus is anything that moves through the blood vessels until it reaches a vessel that is too small to let it pass. When this happens, the blood flow is stopped by the embolus
CHandler’s disease … characteristics
Severe pain and progressive stiffening of hip
Collapse of femoral head
CHandler’s disease treatment
Treatment – hip replacement
SCFE
Slipped capital femoral epiphysis
Idiopathic
Occurs in adolescents (boys>girls)
Epiphysis slips off femur
Bilateral (30%)
SCFE unilateral or bilateral
Bilateral (30%)
Most commonly unilateral
SCFE, characeristics/manifestations
Discomfort in hip
Slight limp
Lurching or waddling gait
Externally rotated limb
Short leg
Unable to bear weight on the affected side
Often associated with obesity
Achondroplasia
Characterized by limbs proportionately shorter than trunk, larger than average head and characteristic facial features
Autosomal dominant disease
Failure of longitudinal growth in the cartilage of the epiphyseal plate
Total height averages just over 4 feet
Radiographically bones are thick
average height achondroplasia
Total height averages just over 4 feet
etiology, achondroplasia
Genetic is 85% of cases
Often hypermobile/double jointed
complications of achondroplasia
frequent dislocations
Joint malalignment
achondroplasia life expectancy
Normal mental/intellectual capability and life expectancy
Diagnosis through examination at birth
—> Ultrasound for femur length
osteogenesis imperfecta
Aka “brittle bone disease”
A congenital genetic disease
Autosomal dominant inheritance
Gene mutation leads to errors in collagen production
8 different classifications
—> Each presenting slightly differently
OI symptoms/signs
Weak bones – susceptible to fractures
Below average height
characteristic signs:
—> Blue sclera
—> Multiple bone fractures
—> Early hearing loss (bones of inner ear)
characteristic sign of OI
blue sclera
other signs/symptoms
Hypermobility
Bowed legs and arms
Scoliosis/kyphosis
OI, Dx, Tx
Dx
Physical exam
Skin punch biopsy
DNA test
Tx
No cure
Focused on reducing pain and complications
Medications
Low impact exercises
Surgery
what is a test type used to diagnose OI
SKIN PUNCH BIOPSY test
Why?
since OI has to do with collagen production, same type of collagen can be evaluated in the skin to detect OI
what is mechanism of OI
Gene mutation leads to errors in collagen production
“They either don’t have enough collagen in their bones or the collagen doesn’t work as it should.”
“This makes their bones weaker and more brittle than normal bones. It also can lead to abnormally shaped bones.”
Radial head subluxation (Nursemaid’s elbow)
Aka pulled elbow, slipped elbow, toddler elbow
Common in children under 4 years old
Most common dislocation in kids
Radius slips out from under the annular ligament
Occurs when there is a sudden pulling or traction on the hand or forearm
what ages is radial head subluxation common?
children under 4 years old
what is a structural change that occurs in head of radius that reduces likelihood of radial head subluxation
end of head of radius flare out more, cause the annular ligament to have a tighter hold of head of radius
radial head subluxation signs/Sx
Immediate pain in the injured arm
Refusal or inability to move the injured arm
Instability upon inspection
Still’s disease (Systemic Juvenile Arthritis)
Form of juvenile idiopathic arthritis (JIA)
Characterized by high spiking fevers and transient rashes
Autoimmune
characteristic features
Characterized by high spiking fevers and transient rashes
Still’s (JIA) disease
SSx
Arthritis, often in more than one joint
Severe joint pain and joint damage
Intermittent fever
Rash – pale pink, blanching, lasting minutes to hours
Muscle pain
Anemia
Enlarged liver and/or spleen (immune activity)
Inflammation of the heart and/or lungs
All symptoms tend to wax and wane for periods of 2-6 weeks
which other organs are affected by Still’s disease (JIA)
heart
lungs
spleen
liver
what about blood related symptoms
anemia
what is the characteristic symptom of Still’s disease (JIA)
RASH
Severe joint pain and joint damage
Intermittent fever
Rash – pale pink, blanching, lasting minutes to hours
Still’s disease (JIA) Diagnosis
-onset at less than 16 years of age
-arthritis in one or more joints
-persistent for at least 6 weeks
-exclusion of other types of childhood arthritis
Still’s disease treatment
Medications – anti-inflammatory, corticosteroids
Physical therapy
Massage therapy
Chiro
-Focused on ROM, limit contractures, increase blood flow (not during acute flareups)
Surgery
Still’s disease prognosis
The fever and most of the other symptoms tend to run their course within several months.
Complete remission occurs in about 50% of cases.
However, the arthritis can become a long-term problem if joint damage occurs (OA)
what is the rate of remission for Still’s disease (JIA)
Complete remission occurs in about 50% of cases
how long does it take for intermittent fevers/rash to run their course?
The fever and most of the other symptoms tend to run their course within several months.
