Goldstien peds 2 Flashcards
Disorders associated with enzymatic gene defect (8)
- Hurler’s syndrome
- Hunter’s syndrome
- Morquio’s syndrome
- Sanfilippo’s syndrome
- Diastrophic dysplasia
- Homocysteinuria
- Osteopetrosis
- Gaucher’s disease
X-linked recessive disorders (5)
- Hunter’s syndrome
- Spondyloepiphyseal dysplasia tarda
- Hemophilia
- Duchenne’s muscular dystrophy
- Becker’s muscular dystrophy
X-linked dominant disorders (1)
- Hypophosphatemic rickets
Differential diagnosis of short limb disproportionate dwarfism (4)
- Chondrodysplasia
- Hypochondroplasia
- Achondroplasia
- Pseudoachondroplasia
- Metatropic dysplasia
- Ellis Van Creveld disease
- Diastrophic dysplasia
- (C.H.A.P.M.E.D.)
Classification of Gaucher’s disease
- Type 1: adult
- Type 2: infantile
- Type 3: juvenile
Differential diagnosis of Erlenmeyer flask femurs (11)
- 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
Findings of Marfan’s syndrome (14)
- 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)
Diagnostic criteria for juvenile idiopathic arthritis (3)
- 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.)
Definition of an active joint in juvenile idiopathic arthritis (1 of 2)
- Swelling/effusion
- ≥ 2 of:
o Decreased mobility
o Stress pain
o Warmth
Types of presentations of juvenile idiopathic arthritis (3)
- Systemic (Still’s disease) (least common, poorest prognosis)
- Oligoarticular (≤ 4 joints) (most common, best prognosis)
- Polyarticular (≥ 5 joints) (middle)
Findings of Still’s disease (8)
- Rash
- Fever
- Anemia
- Elevated WBC
- Serositis
- Pericarditis
- Hepatosplenomegaly
- Lymphadenopathy
Findings of juvenile idiopathic arthritis (8)
- Iritis/uveitis
- Atlantoaxial instability
- Cervical kyphosis
- Flexed/ulnar deviated wrists
- Extended/radially deviated fingers
- Acetabular protrusio
- Valgus knees
- Equinovarus feet
- (Proximal → distal)
Order of joint involvement in juvenile idiopathic arthritis (5)
- Knee
- Hand/wrist
- Ankle
- Hip
- C-spine
- (Most common → least common)
XR findings of juvenile idiopathic arthritis (3)
- Symmetric joint space narrowing
- Periarticular erosions
- Osteopenia
Components of treatment for juvenile idiopathic arthritis (12)
- Ophthalmologic evaluation(s)
- Occupational therapy
- Physical therapy
- NSAIDs/rheumatologic medications
- Intraarticular steroid injections
- Tenotomies
- Tendon lengthening
- Synovectomy
- Corrective osteotomy
- Epiphysiodesis
- Arthroplasty
- Arthrodesis
Risk factors for requiring surgery with JIA (3)
- Positive rheumatoid factor with Polyarticular disease
- Rapidly progressing systemic onset
- Progression from pauciarticular to polyarticular
Indications for synovectomy in JIA (6)
- 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
Clinical presentation of ankylosing spondylitis (4)
- Asymmetrical lower extremity large joint arthritis
- Heel pain
- Uveitis (40%)
- Hip/back pain (later)
Findings of psoriatic arthritis (4)
- Characteristic skin rash (silvery plaques on extensor surfaces)
- “Pencil-in-cup” deformity of phalanges
- Nail pitting
- Dactylitis
Findings of Reiter’s syndrome (reactive arthritis) (5)
- Arthritis
- Conjunctivitis
- Hand/foot rash
- Oral ulcers
- Urethritis
- (A.C.H.O.U.)
Infections that can trigger Reiter’s syndrome (5)
- Salmonella
- Shigella
- Campylobacter
- Chlamydia
- Yersinia
Differential diagnosis of idiopathic juvenile osteoporosis (4)
- Osteogenesis imperfecta
- Malignancy
- Cushing’s disease
- Homocystinuria
Differential diagnosis of hemihypertrophy (5)
- 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
Tumours associated with hemihypertrophy (3)
- Wilm’s tumour (#1)
- Adrenal carcinoma
- Hepatoblastoma
Order of carpal bone ossification (first → last) (8)
- Capitate
- Hamate
- Triquetrum
- Lunate
- Scaphoid
- Trapezium
- Trapezoid
- Pisiform
- (start at capitate and go counter-clockwise, with pisiform last)
Causes of septic arthritis (3)
- Hematogenous seeding of the joint
- Direct inoculation through trauma/surgery
- Contiguous spread from adjacent osteomyelitis
Predictors of septic hip (4)
- 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)
Complications of septic arthritis (8)
- Joint destruction
- Joint contracture
- Dislocation
- Limb length discrepancy
- Angular deformity
- Gait disturbance
- Osteonecrosis
- Meningitis (H. Flu)
- Post-infectious arthritis
Risk factors for neonatal infections in the ICU (5)
- Phlebotomy
- Indwelling catheters
- Invasive monitoring
- Peripheral alimentation
- IV drug administration
Signs of neonatal MSK infections (8)
- Pain with motion
- Decreased extremity use
- Pseudoparalysis
- Feeding difficulty
- Temperature instability
- Tenderness
- Swelling
- Erythema
Indications for surgical intervention in shoe puncture injuries (4)
- Foreign body
- Abscess
- Septic arthritis
- Infection despite appropriate non-operative management
Clinical findings in pediatric discitis (6)
- Low grade fever
- Limp
- Abdominal pain (toddlers)
- Back pain (adolescents)
- Refusal to walk/bear weight
- Refusal to move the spine
Indications for surgical treatment of discitis (3)
- Paraspinal abscess
- Neurologic deficits
- Failure of non-operative treatment
Complications of pediatric discitis (3)
- Disc degeneration
- Spontaneous fusion
- Back pain
Clinical findings of pyogenic sacroiliac infections (5)
- Fever
- Limp
- Pain
- Tenderness to palpation
- Positive FABER test
Risk factors for MSK infections in sickle cell disease (3)
- Bone infarcts
- Sluggish circulation (increased blood viscosity)
- Decreased bacterial opsonization
Laboratory studies for tuberculous MSK infection (4)
- WBC (normal)
- ESR (elevated)
- Positive PPD (purified protein derivative) test
- Positive stain/culture for acid fast bacilli
Indications for surgical intervention in spinal tuberculosis 94)
- Neurologic deficit
- Increasing kyphosis
- Instability
- Failure of medical management
Clinical presentation of Lyme disease (5)
- Erythema migrans (“bull’s eye” rash)
- Intermittent reactive arthritis
- Neuropathy
- Cardiac arrhythmias
- Occasionally an acute arthritis
Laboratory findings in Lyme disease (4)
- Elevated ESR/CRP
- Equivocal WBC count
- Positive B. burgdorferi serology
- Positive rapid Lyme immunoassay
