Pediatrics Section 3: Hematopoietic Disorders

Question 1

Gaucher disease

Answer 1

• Osteopenia
• Bone pain
• Hepatosplenomegaly
• Common in Ashkenazi jews
• Autosomal recessive
• Accumulation of sphingolipids cerebroside
• Deficiency of B-glucocerebrosidase
• Erlynmeyer flask deformity of distal femur

Question 2

Niemann-Pick disease

Answer 2

• Autosomal recessive
• Accumulaion of sphingomyelin
• Common in Jews from eastern Europe
• Cortical thinning with marrow expansion

Question 3

Sickle cell anemia

Answer 3

• Salmonella infection osteo common but S. aureus still more common
• Mutation in Beta globin gene –> HbS
• Osteonecrosis of femoral/humeral head
• Biconcave “fish” vertabrae
• Septic arthritis is common
• Tx crisis with hydroxyurea

Question 4

Thalassemia

Answer 4

• Similar to SS anemia
• Mediteraranean descent
• Bone pain
• Leg ulceration
• Erlenmeyer flask deformity
• Long-bone thinning
• Diffuse osteopenia

Question 5

Erlenmyer flask deformity

Answer 5

• DDX
  
  • Gaucher disease
  • Thalassemia
  • Niemann-Pick disease
  • Osteopetrosis

Question 6

Hemophilia

Answer 6

• Hemarthrosis of the knee
• Intramuscular hematomas –> pseudotumor
  
  • Illiacus hematoma MC –> femoral nerve paralysis (L4)
• X-linked recessive
• Decreased factor VIII (hemophilia A) or factor IX (hemophilia B)
• Jordan’s sign - squaring of patella and condyles
• LLD
• Tx hemarthroses with factor VIII or IX, not aspiration. Synovectomy for persistent hemarthrosis
• Prophylactically raise factor levels for the following situations
  
  1. Hematoma –> 30%
  2. Hemarthrosis or soft tissue surgery –> >50%
  3. Skeletal surgery –> 100% and maintain >50% for 10 days postop
• IgG –> relative contraindication for sugery

Question 7

Leukemia

Answer 7

• ALL MC in childhood
• Radiolucent “leukemia lines” are seen in the metaphyses
• Only 1/4 of leukemia patients have MSK complaints (back, pelvic, leg pains)