Goldstien peds 2 Flashcards

1
Q

Disorders associated with enzymatic gene defect (8)

A
  • Hurler’s syndrome
  • Hunter’s syndrome
  • Morquio’s syndrome
  • Sanfilippo’s syndrome
  • Diastrophic dysplasia
  • Homocysteinuria
  • Osteopetrosis
  • Gaucher’s disease
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2
Q

X-linked recessive disorders (5)

A
  • Hunter’s syndrome
  • Spondyloepiphyseal dysplasia tarda
  • Hemophilia
  • Duchenne’s muscular dystrophy
  • Becker’s muscular dystrophy
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3
Q

X-linked dominant disorders (1)

A
  • Hypophosphatemic rickets
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4
Q

Differential diagnosis of short limb disproportionate dwarfism (4)

A
  • Chondrodysplasia
  • Hypochondroplasia
  • Achondroplasia
  • Pseudoachondroplasia
  • Metatropic dysplasia
  • Ellis Van Creveld disease
  • Diastrophic dysplasia
  • (C.H.A.P.M.E.D.)
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5
Q

Classification of Gaucher’s disease

A
  • Type 1: adult
  • Type 2: infantile
  • Type 3: juvenile
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6
Q

Differential diagnosis of Erlenmeyer flask femurs (11)

A
  • Fibrous dysplasia
  • Gaucher’s disease
  • Lead poisoning
  • Multiple hereditary exostoses
  • Niemann-Pick disease
  • Osteopetrosis (Albers-Schonberg disease)
  • Osteogenesis imperfecta
  • Porphyria
  • Sickle cell anemia
  • Systemic macrocytosis
  • Thalassemia
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7
Q

Findings of Marfan’s syndrome (14)

A

- Non-skeletal findings:

o Superior lens dislocation

o Mitral valve prolapsed

o Aortic aneurysms/dissection

o Dural ectasia/meningocele

- Skeletal findings

o Scoliosis

o Kyphosis

o Arm-span > height (> 1.05)

o Wrist hypermobility (Steinberg sign)

o MCP hypermobility (Walker’s sign)

o Arachnodactyly

o Acetabular protrusio

o Genu valgum

o Patellar dislocation

o Pes planovalgus

  • (Proximal → distal)
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8
Q

Diagnostic criteria for juvenile idiopathic arthritis (3)

A
  • Persistent, non-infectious arthritis lasting 6-12 weeks
  • All other possible causes ruled out
  • One of:

o Tenosynovitis

o Rash

o Rheumatoid factor (+)

o Iridocyclitis

o Intermittent fever

o Cervical spine involvement

o Pericarditis

o Morning stiffness

o (T.R.R.I.I.C.P.M.)

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9
Q

Definition of an active joint in juvenile idiopathic arthritis (1 of 2)

A
  • Swelling/effusion
  • ≥ 2 of:

o Decreased mobility

o Stress pain

o Warmth

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10
Q

Types of presentations of juvenile idiopathic arthritis (3)

A
  • Systemic (Still’s disease) (least common, poorest prognosis)
  • Oligoarticular (≤ 4 joints) (most common, best prognosis)
  • Polyarticular (≥ 5 joints) (middle)
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11
Q

Findings of Still’s disease (8)

A
  • Rash
  • Fever
  • Anemia
  • Elevated WBC
  • Serositis
  • Pericarditis
  • Hepatosplenomegaly
  • Lymphadenopathy
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12
Q

Findings of juvenile idiopathic arthritis (8)

A
  • Iritis/uveitis
  • Atlantoaxial instability
  • Cervical kyphosis
  • Flexed/ulnar deviated wrists
  • Extended/radially deviated fingers
  • Acetabular protrusio
  • Valgus knees
  • Equinovarus feet
  • (Proximal → distal)
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13
Q

Order of joint involvement in juvenile idiopathic arthritis (5)

A
  • Knee
  • Hand/wrist
  • Ankle
  • Hip
  • C-spine
  • (Most common → least common)
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14
Q

XR findings of juvenile idiopathic arthritis (3)

A
  • Symmetric joint space narrowing
  • Periarticular erosions
  • Osteopenia
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15
Q

Components of treatment for juvenile idiopathic arthritis (12)

A
  • Ophthalmologic evaluation(s)
  • Occupational therapy
  • Physical therapy
  • NSAIDs/rheumatologic medications
  • Intraarticular steroid injections
  • Tenotomies
  • Tendon lengthening
  • Synovectomy
  • Corrective osteotomy
  • Epiphysiodesis
  • Arthroplasty
  • Arthrodesis
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16
Q

Risk factors for requiring surgery with JIA (3)

A
  • Positive rheumatoid factor with Polyarticular disease
  • Rapidly progressing systemic onset
  • Progression from pauciarticular to polyarticular
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17
Q

Indications for synovectomy in JIA (6)

A
  • Involvement of one or a few joints
  • Severe synovitis
  • Failure of nonsurgical treatment
  • No radiographic evidence of articular cartilage destruction
  • Severe pain
  • Significant decrease in ROM/contracture
18
Q

Clinical presentation of ankylosing spondylitis (4)

A
  • Asymmetrical lower extremity large joint arthritis
  • Heel pain
  • Uveitis (40%)
  • Hip/back pain (later)
19
Q

Findings of psoriatic arthritis (4)

A
  • Characteristic skin rash (silvery plaques on extensor surfaces)
  • “Pencil-in-cup” deformity of phalanges
  • Nail pitting
  • Dactylitis
20
Q

Findings of Reiter’s syndrome (reactive arthritis) (5)

A
  • Arthritis
  • Conjunctivitis
  • Hand/foot rash
  • Oral ulcers
  • Urethritis
  • (A.C.H.O.U.)
21
Q

Infections that can trigger Reiter’s syndrome (5)

A
  • Salmonella
  • Shigella
  • Campylobacter
  • Chlamydia
  • Yersinia
22
Q

Differential diagnosis of idiopathic juvenile osteoporosis (4)

A
  • Osteogenesis imperfecta
  • Malignancy
  • Cushing’s disease
  • Homocystinuria
23
Q

Differential diagnosis of hemihypertrophy (5)

A
  • Idiopathic congenital
  • Familial
  • Chronic hyperaemia
  • Lymphatic disorders
  • Vascular disorders
  • Lipomatosis
  • Bone dysplasias (McCune Albright syndrome)
  • Dysmorphic syndromes

o Proteus syndrome

o Klippel-Trenaunay-Weber syndrome

o Beckwith-Wiedeman syndrome

o Epidermal naevus syndrome

o Hemi-3 syndrome

o Russell-Silver syndrome

  • Neurofibromatosis
24
Q

Tumours associated with hemihypertrophy (3)

A
  • Wilm’s tumour (#1)
  • Adrenal carcinoma
  • Hepatoblastoma
25
Q

Order of carpal bone ossification (first → last) (8)

A
  • Capitate
  • Hamate
  • Triquetrum
  • Lunate
  • Scaphoid
  • Trapezium
  • Trapezoid
  • Pisiform
  • (start at capitate and go counter-clockwise, with pisiform last)
26
Q

Causes of septic arthritis (3)

A
  • Hematogenous seeding of the joint
  • Direct inoculation through trauma/surgery
  • Contiguous spread from adjacent osteomyelitis
27
Q

Predictors of septic hip (4)

A
  • Elevated CRP (> 2.0)
  • Elevated ESR (> 40)
  • Elevated WBC (> 12)
  • Fever (> 101.5° F; > 38.5°C in AAOS criteria)

o 5/5 = 98% chance of septic hip

o 4/5 = 93% chance of septic hip

o 3/5 = 83% chance of septic hip

  • Inability to weight bear

o 4/4 of ESR, WBC, WB status and fever = 60-99.6% diagnostic (AAOS)

28
Q

Complications of septic arthritis (8)

A
  • Joint destruction
  • Joint contracture
  • Dislocation
  • Limb length discrepancy
  • Angular deformity
  • Gait disturbance
  • Osteonecrosis
  • Meningitis (H. Flu)
  • Post-infectious arthritis
29
Q

Risk factors for neonatal infections in the ICU (5)

A
  • Phlebotomy
  • Indwelling catheters
  • Invasive monitoring
  • Peripheral alimentation
  • IV drug administration
30
Q

Signs of neonatal MSK infections (8)

A
  • Pain with motion
  • Decreased extremity use
  • Pseudoparalysis
  • Feeding difficulty
  • Temperature instability
  • Tenderness
  • Swelling
  • Erythema
31
Q

Indications for surgical intervention in shoe puncture injuries (4)

A
  • Foreign body
  • Abscess
  • Septic arthritis
  • Infection despite appropriate non-operative management
32
Q

Clinical findings in pediatric discitis (6)

A
  • Low grade fever
  • Limp
  • Abdominal pain (toddlers)
  • Back pain (adolescents)
  • Refusal to walk/bear weight
  • Refusal to move the spine
33
Q

Indications for surgical treatment of discitis (3)

A
  • Paraspinal abscess
  • Neurologic deficits
  • Failure of non-operative treatment
34
Q

Complications of pediatric discitis (3)

A
  • Disc degeneration
  • Spontaneous fusion
  • Back pain
35
Q

Clinical findings of pyogenic sacroiliac infections (5)

A
  • Fever
  • Limp
  • Pain
  • Tenderness to palpation
  • Positive FABER test
36
Q

Risk factors for MSK infections in sickle cell disease (3)

A
  • Bone infarcts
  • Sluggish circulation (increased blood viscosity)
  • Decreased bacterial opsonization
37
Q

Laboratory studies for tuberculous MSK infection (4)

A
  • WBC (normal)
  • ESR (elevated)
  • Positive PPD (purified protein derivative) test
  • Positive stain/culture for acid fast bacilli
38
Q

Indications for surgical intervention in spinal tuberculosis 94)

A
  • Neurologic deficit
  • Increasing kyphosis
  • Instability
  • Failure of medical management
39
Q

Clinical presentation of Lyme disease (5)

A
  • Erythema migrans (“bull’s eye” rash)
  • Intermittent reactive arthritis
  • Neuropathy
  • Cardiac arrhythmias
  • Occasionally an acute arthritis
40
Q

Laboratory findings in Lyme disease (4)

A
  • Elevated ESR/CRP
  • Equivocal WBC count
  • Positive B. burgdorferi serology
  • Positive rapid Lyme immunoassay