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
