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97 Cards in this Set
- Front
- Back
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What is the Osteogenesis triad?
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Blue sclera
Early deafness Fragile bones |
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What is the most common genetic cause of osteoporosis?
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Osteogenesis imperfecta
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What is the underlying problem with osteogenesis imperfecta?
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Type I collagen formation is immature and abnormally cross-linked
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What age is osteogenesis most problematic?
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Lethal in perinatal forms
More mild forms in adults |
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Does osteogenesis imperfecta only affect the bones?
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No. It affects all connective tissue in the body, primarily manifests in the skeleton because of structural demands
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Which type of Osteogenesis Imperfecta (OI) is most prevalent?
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Type I
60-80% of cases Autosomal D Blue sclera omnipresent - degree varies |
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What would a radiograph of OI Type I reveal?
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mild to moderate gerneralized osteoporosis w/ cortical thinning
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When would you expect to see the first fracture in OI type I?
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Preschool period - up to 25% may have fractures at birth
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What are incidental findings w/ OI type I?
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Lax ligaments
Hypermobility Bowed femurs/tibias Valgus knees, pes planus Conductive hearing loss frequent |
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Where do you expect to see bruising in a normal child?
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Shins from bumps/bruises
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What is the Osteogenesis triad?
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Blue sclera
Early deafness Fragile bones |
|
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What is the most common genetic cause of osteoporosis?
|
Osteogenesis imperfecta
|
|
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What is the underlying problem with osteogenesis imperfecta?
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Type I collagen formation is immature and abnormally cross-linked
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What age is osteogenesis most problematic?
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Lethal in perinatal forms
More mild forms in adults |
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Does osteogenesis imperfecta only affect the bones?
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No. It affects all connective tissue in the body, primarily manifests in the skeleton because of structural demands
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Which type of Osteogenesis Imperfecta (OI) is most prevalent?
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Type I
60-80% of cases Autosomal D Blue sclera omnipresent - degree varies |
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What would a radiograph of OI Type I reveal?
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mild to moderate gerneralized osteoporosis w/ cortical thinning
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When would you expect to see the first fracture in OI type I?
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Preschool period - up to 25% may have fractures at birth
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What are incidental findings w/ OI type I?
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Lax ligaments
Hypermobility Bowed femurs/tibias Valgus knees, pes planus Conductive hearing loss frequent |
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Where do you expect to see bruising in a normal child?
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Shins from bumps/bruises
OI type I - 75% of children are easily bruised (deep) |
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What is the Osteogenesis triad?
|
Blue sclera
Early deafness Fragile bones |
|
|
What is the most common genetic cause of osteoporosis?
|
Osteogenesis imperfecta
|
|
|
What is the underlying problem with osteogenesis imperfecta?
|
Type I collagen formation is immature and abnormally cross-linked
|
|
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What age is osteogenesis most problematic?
|
Lethal in perinatal forms
More mild forms in adults |
|
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Does osteogenesis imperfecta only affect the bones?
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No. It affects all connective tissue in the body, primarily manifests in the skeleton because of structural demands
|
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Which type of Osteogenesis Imperfecta (OI) is most prevalent?
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Type I
60-80% of cases Autosomal D Blue sclera omnipresent - degree varies |
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What would a radiograph of OI Type I reveal?
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mild to moderate gerneralized osteoporosis w/ cortical thinning
|
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When would you expect to see the first fracture in OI type I?
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Preschool period - up to 25% may have fractures at birth
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What are incidental findings w/ OI type I?
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Lax ligaments
Hypermobility Bowed femurs/tibias Valgus knees, pes planus Conductive hearing loss frequent |
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Where do you expect to see bruising in a normal child?
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Shins from bumps/bruises
OI type I - 75% of children are easily bruised (deep) |
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Prognosis of OI type I?
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Stature - normal / mildly short
Fractures heal with normal callus formation Fracture frequency decreases after puberty |
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OI type II?
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< 10%
Extremely severe - stillborn or die w/in 1st year Small chest - die of respiratory insufficiency in 1st week Severe IUGR Born w/multiple fractures, severe deformities |
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OI type III?
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Most severe non-lethal form
Progressive Results in extreme disability |
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OI Type IV?
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Rare
Mild |
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OI type V?
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All patients have dislocation of radial head and ossification of interosseous membranes of forearm
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What is the progression of ankylosing spondylitis?
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Long term inflammation leads to fusion of the vertebral column
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Juvenile ankylosing spondylitis is typically seen in what population?
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Older boys, adolescents and young adults
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Histocompatability antigen HLA-B27 is strongly associated with disease?
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Juvenile ankylosing spondylitis (>90%)
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Characterization of Juvenile Ankylosing Spondylitis?
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Oligoarthritis
Enthesitis - inflammation at sites of attachements of ligs, tendons, fascias, and capsules to bone. May progress to calcification of ligs and fusion of joints. |
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UE or LE more affected?
Juvenile Ankylosing Spondylitis |
UE
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Prognosis of OI type I?
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Stature - normal / mildly short
Fractures heal with normal callus formation Fracture frequency decreases after puberty |
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OI type II?
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< 10%
Extremely severe - stillborn or die w/in 1st year Small chest - die of respiratory insufficiency in 1st week Severe IUGR Born w/multiple fractures, severe deformities |
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OI type III?
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Most severe non-lethal form
Progressive Results in extreme disability |
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OI Type IV?
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Rare
Mild |
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OI type V?
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All patients have dislocation of radial head and ossification of interosseous membranes of forearm
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What is the progression of ankylosing spondylitis?
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Long term inflammation leads to fusion of the vertebral column
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Juvenile ankylosing spondylitis is typically seen in what population?
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Older boys, adolescents and young adults
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Histocompatability antigen HLA-B27 is strongly associated with disease?
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Juvenile ankylosing spondylitis (>90%)
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Characterization of Juvenile Ankylosing Spondylitis?
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Oligoarthritis
Enthesitis - inflammation at sites of attachements of ligs, tendons, fascias, and capsules to bone. May progress to calcification of ligs and fusion of joints. |
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UE or LE more affected?
Juvenile Ankylosing Spondylitis |
UE
Early hip joint arthritis is particularly suggestive of JAS |
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If a pt with JAS has a low-grade fever and weight loss what should you start thinking?
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Possible occult inflammatory bowel disease
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When do abnormalities of axial skeleton and SI joints appear in JAS?
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usually absent until later in the disease
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When you see an older child (esp. boy) with lower extremity oligoarthritis along with enthesitis
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Highly suggestive of JAS
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What radiographic finding is confirmatory for JAS
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evidence of sacroiliitis
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Diagnosing JAS
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LE oligoarthritis w/enthesitis
Sacroiliitis Systemic inflammation (increased ESR, WBC, platelet count) Rheum Factor absent ANA absent HLA-B27 usually present Advanced JAS will cause squaring of the corners of vertebral bodies on X-ray shows bamboo spine |
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Complications of JAS?
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25% pts have ant. uveitis
Aortic valve insufficiency may occur but rare Atlantoaxial subluxation has been reported (common in downs) |
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Juvenile Idiopathic Arthritis (JIA)?
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Idiopathic synovitis of peripheral joints associated with soft tissue swelling and effusion
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JIA is a category of diseases with 3 principal types of onset, what are they?
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1. Oligoarthritis, or pauciarticular disease - 1-4 joints
2. Polyarthritis - 5+ joints 3. Systemic-onset disease - rash, fever |
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What two events are necessary to contract JIA?
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Immunogenic susceptibility
External, presumably environmental, trigger: Certain viruses (parvovirus, B19, EBV...) Host hyperactivity to self antigen (eg type II collagen) |
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JIA Pathogenesis
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Synovitis w/villous hyperplasia/trophy
Hyperplasia w/hyperemia and edema of subsynovial tissues Vascular endothelial hyperplasia Pannus formation in advanced or uncontrolled disease |
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Morning stiffness
Easy fatigability, particularly after school Joint pain later in the day Joint swelling Joint is warm, lacks full ROM, motion is painful, lacks erythema |
Clinical manifestations of JIA
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JIA clinical manifestations of oligoarthritis (pauciarticular disease)
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Predominantly effects joints of LEs
Hip involvement is almost never a presenting sign but may occur later as first sign of deteriorating course |
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JIA polyarthritis (polyarticular disease)
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5 or more joints required for diagnosis, as many as 20-40 separate joints often affected in both UE and LE
Rheumatoid nodules over elbows and achilles are associated w/severe course (seen more in adults) Cervical spine often involved w/risk of atlantoaxial subluxation |
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JIA systemic-onset disease?
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Arthritis and prominent visceral involvement - hepatosplenomegaly, lymphadenopathy, serositis
Quotidian fever for 2 wks (at least 39 degrees) along w/salmon colored rash over trunk and proximal extremities Koebner phenomenon is suggestive |
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JIA diagnosis criteria
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Onset <16 yrs
Arthritis in 1+ joints Duration 6 wks + Type defined by involvement in first 6 months: Polyarthritis 5+ joints Oligoarthritis <5 joints Systemic - arthritis w/characterisitic fever Exclusion of other forms of juvenile arthritis |
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JIA labs?
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Increased: WBCs, Platelets, ESR, CRP
ANA (unusual in systemic but + in some w/ poly or oligo JIA) R factor (only 8% + w/poly) Decreased hemoglobin |
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JIA prognosis?
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Depends on subtype and clinical manifestations
45% have active disease persisting into adulthood w/severe limitations of physical function Risk of developing chronic uveitis or Ant. uveitis (iridocyclitis) Comorbid condition is macrophage activation syndrome - life threatening, suggested by anemia, thrombocytopenia or leukopenia, fever, lymphadenopathy, HSM |
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Osteosarcoma
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Malignant bone tumor
Most common primary malignant bone tumor of children/adolescents |
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Where are osteosarcomas most commonly found?
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Metaphysis of long bones
distal femurs, proximal tibia, humerus |
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How do osteosarcomas usually present?
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Children/adolescents present w/limp, local pain and swelling
Often a history of injury (pain lingers) |
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You see a X-ray showing sclerotic destruction (sunburst) ?
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Osteosarcoma
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Ewing sarcoma
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Malignant bone tumor
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where are ewing sarcomas generally found?
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Diaphysis of long bones and flat bones (femur and pelvis)
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How does a ewing sarcoma present?
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Local pain and swelling accompanied by fever and weight loss
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Primarily lytic lesion with multilaminar periosteal reaction (onion skinning) on X-ray?
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Ewing sarcoma
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Osteoid osteoma?
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Small, benign bone tumor
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Patient presents with unremitting pain that gradually increases. Pt mentions that it often increases at night but that taking aspirin relieves the pain
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Osteoid Osteoma
Palpation and ROM don't alter pain |
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Where do you find osteoid osteomas?
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Usually in the femur or tibia but any bone can be involved
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Round or oval lucency in metaphysis or diaphysis on X-ray?
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Osteoid osteoma
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Duchenne muscular dystrophies
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most common muscular dystrophy
X-linked recessive |
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Becker muscular dystrophy
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fundamentally same as duchenne with defect at same locus
follows milder and more protracted course |
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Clinical manifestations of Duchenne muscular dystrophy
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Mildly hypertonic at birth
Slight delay in early gross motor skills Walking occurs at normal age Proximal muscle weakness presents at 2 yrs old Lordotic posture Trendelenburg gait |
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What is the Gower sign?
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Use of hands and arms to "walk" up legs/body to upright positon
Seen in duchenne muscular dystrophy |
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Duchenne muscular dystrophy clinical manifestations cont...
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Arm weakness - 6 yrs
Confined to wheelchair - 12 yrs Scoliosis progresses rapidly once confined to wheelchair Respiratory muscle weakness leads to ineffective cough, pulmonary infections, and decreasing respiratory reserve Distal muscles are usually well preserved Pseudohypertrophy of calf muscles with thigh wasting is classic |
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Duchenne clinical manifestations cont... 2
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Cardiomyopathy
Learning disabilities Death usually at 18 yrs: Respiratory failure in sleep, intractable HF, Pneumonia, Aspiration and airway obstruction |
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Duchenne Muscular Dystrophy Lab Results
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Increased creatine phosphokinase
Increased lysosomal enzymes from muscle (aldolase and aspartate aminotransferase) Electromyography (EMG) shows characteristic myopathic features |
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Duchenne Muscular Dystrophy diagnosis
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DNA analysis (by PCR) from peripheral blood for dystrophin gene mutation
Muscle biopsy shows muscle fiber degeneration and regeneration |
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Duchenne muscular dystrophy Tx
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Supportive care
Multidisciplinary approach |
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Marfan Syndrome
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AD
Abnormal biosynthesis of fibrillin-1 (locus on chromosome 15) Mutations in FBN1 account for 25% of cases, >200 mutations identified |
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What 3 systems are involved with marfans?
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Cardiac
Opthalmologic Skeletal |
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Clinical manifestations of Marfans?
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Tall thin body
Spider-like fingers and toes Sternum abnormalities Diminished SQ fat Hypotonia and lig laxity Lens dislocation/cataracts |
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Clinical manifestations of Marfans cont...
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Mitral valve prolapse with regurgitation
Aortic insufficiency/aortic dissection Arm span > height Thumb overlaps pinky when encircling the wrist |
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Marfans diagnostic criteria?
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Based on clinical criteria
Two major and one minor manifestations must be met to diagnose marfans One major criteria for diagnosis with affected first degree relative |
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What labs do you use to diagnose marfans?
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none, labs used to rule-out other disorders, not to diagnose marfans.
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Arthrogryposis
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Congenital anomaly in newborn
Involves multiple curved joints Descriptive term not a diagnosis Nonprogressive muscular disorder failure of development of or degeneration of muscular structures Multifactorial etiology May be confined to one or a few limbs |
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3 main groups of arthrogryposis
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Classic - limbs are primarily involved and the muscles are deficient or absent (amyoplasia)
Association w/neurology - brain, spinal cord, anterior horn cell, or peripheral nerve Association with other major anomalies/specific syndromes: osteogenesis imperfecta, trisomy 18 |
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Manifestations of arthrogryposis?
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Short, tight muscles
Absence of muscles or fibrosis of muscles Joint contractures Deformities - clubfoot, dislocated hips, contractures of knees, elbows, wrists and hands X-rays show relatively normal appearing bones and joints - fat noted in areas where muscles normally seen |
