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Pediatrics > MSK Disorders/Syndromes > Flashcards

MSK Disorders/Syndromes Flashcards

1
Q

Marfan inheritance and gene

A

AD

Fibrilin 1 gene - chromosome 15

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2
Q

3 non-ortho presentations of Marfans

A
  1. Cardiac - aortic root dilation, dissection, mitral valve prolapse (beta blockers). ECHO and cards consult
  2. Scoliosis, dural ectasia (widening of dural sac around cord) - MRI pre op
  3. Pectus - spontaneous PTX
  4. Superior lens dislocation (vs inf = homocystinuria)
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3
Q

Ortho treatments for Marfans

A

Brace -> long fusion scoliosis
- MRI pre op: dural ectasia (widening of dural sac around cord)
Close triradiate cartilage for progressive protrusio acetabuli
Brace vs surg for flat feet

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4
Q

OA vs RA - which joints in the hands are affected

A

OA: IP
RA: MCP, ulnar dev, extensor nodules

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5
Q

Classic XR findings RA

A

Symmetric jt space narrowing

Periarticular erosions

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6
Q

Pathophys OA

A

Chondrocytes release MMPs - breakdown ECM
Cytokines in joint fluid
Prostaglandin causes pain

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7
Q

Pathophys RA

A

T and B cells attack synovium -> macrophage and cytokine response breaks down cartilage
Only 50% ish have +RF

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8
Q

3 types of juvenile rheumatoid/idiopathic arthritis

A

RF+

  1. Systemic = Stills disease
    - Fever, acute presentation w/ high WBC
    - Worst long term prognosis
  2. Oligoarticular
    - <4 jts (“limp that improves during the day”)
    - Check for uveitis and LLD
  3. Polyarticular
    - >5jts, often small
    - Check uveitis
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9
Q

Name the 4 seroneg spondyloarthropathies

A 
Ank spond 
Psoriatic arthritis 
Reactive arthritis / Reiter's 
Enteropathic - Crohn's, IBD
Auto immune, ALL RF negative
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10
Q

Spine presentation of ank spond

A

Sacroiliitis - +FABER, bilateral ST joint erosions on XR
- “Morning stiffness and low back pain”
Marginal syndesmophytes - inflam annulus -> bridging osteophytes (bamboo spine) and squaring of vertebrae
Progressive kyphosis
**always get a CT in trauma setting - easy to miss frx, often unstable

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11
Q

What lab marker (besides RF) is often positive in ank spond

A

HLA B27

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12
Q

Non-ortho presentations ank spond

A

Uveitis
Cards: conduction, ascending aorta issues
Pulm: fibrosis (less chest wall expansion), Kleb pna
Aphthous mouth ulcers

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13
Q

Treat ank spon

A

PT and NSAIDs

By system PRN

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14
Q

Classic XR and presentation of psoriatic arthritis

A

Pencil in cup phalanx XR

Nail pitting, sausage digits

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15
Q

Bugs and pathophys of reactive arthritis

A

Chlamydia, Yersinia, Salmonella, Campy, Shigella

Immune complexes deposit into joints

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16
Q

Pathophys of Rickets

A

Defective osteoid mineralization

17
Q

Clinical presentation of Rickets

A

Genu varum (bow legs)

18
Q

Most common type of rickets - inheritance, labs, treat

A

HypoPO4
X-dom, PHEX gene
Low PO4, high alk phos
Trt: PO4 + vid D

19
Q

Pathophys, labs and treat nutritional rickets

A

Vit D deficiency
Low vit D -> low GI Ca2+ -> high PTH -> high alk phos
+vit D

20
Q

What is the diff between type 1 and 2 vit D dep rickets

A

Type 1 - low vit D
Type 2 - high vit D, also alopecia
Treat both with vit D supplement

21
Q

What is a maternal RF for Down syndrome

A

Advanced maternal age

22
Q

Spine concern and trt Downs

A

AA instability
- ADI > 5 + sx = fuse
- ADI > 10 + asx = fuse
Scoli more common - likely long fusion bc soft tissue laxity

23
Q

LE sx for Downs

A

Hip instability 2/2 lig laxity and hypotonia

Knee pain/patellar instability from alignment issues

24
Q

Describe the makeup of type 1 collage

A

2 alpha 1 chains
1 alpha 2 chains
Form triple helix b/c glycine at every 3rd amino acid

25
Q

Mutation and inheritance of OI

A

COL1A - type 1 collage - decreased osteoid
Can’t remodel bone (fractures)
AD = milder
AR = severe

26
Q

Clinical presentation OI

A

Saber shin tibia
Opalescent teeth
Hearing loss
Blue sclera

27
Q

Classic OI frx

A

Olecranon apophyseal avulsion fractures

28
Q

Trt OI: meds and surgery

A

Bisphosphonates - block ostoclasts
Intramedullary devices (load sharing) for frx or lengthening
Spinal fusion for progressive basilar invagination or scoli

29
Q

What 2 diseases has Erlenmeyer flask distal femurs

A

Osteopetrosis

Gaucher’s

30
Q

Inheritance and pathophys Gaucher

A

AR
Defect in beta glucocerbrosidase
Build up of GCS -> macrophages follow

31
Q

Dx and trt Gaucher

A

WBC enzyme activity profile

Trt: enzyme replacement therapy (doesn’t impact neuro sx) or early bone marrow trp

Pediatrics (3 decks)

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