Misc (diffuse bone disease)

Question 1

Deficiency of osteoclastic carbonic anhydrase

Answer 1

Osteopetrosis

Question 2

diffuse marked sclerosis of the entire skeleton

Answer 2

osteopetrosis

Question 3

sandwich sign

Answer 3

osteopetrosis

Question 4

spine sign in osteopetrosis

Answer 4

sandwich sign

Question 5

Gaucher disease enzyme deficiency

Answer 5

glucocerebrosidase –> cerebroside deposition in altered macrophages called Gaucher cells

Question 6

Erlenmeyer flask deformity

Answer 6

Gaucher disease

Question 7

H shaped vertebra

Answer 7

Gaucher, sickle cell disease

Question 8

What causes H shaped vertebra?

Answer 8

avascular necrosis of the endplates

Question 9

Spleen size in Gaucher vs Sickle cell disease

Answer 9

Gaucher: huge spleen Sickle cell: splenic autoinfarction

Question 10

splenic auto-infarction

Answer 10

Sickle cell

Question 11

Bone infarcts plus huge spleen

Answer 11

Gaucher disease

Question 12

Lincoln log vertebra

Answer 12

same as H shaped. due to avascular necrosis of endplates

Question 13

Dactylitis in a young black child

Answer 13

hand and foot syndrome in Sickle cell

Question 14

Soft tissue swelling and perisoteal rxn in a finger in a child

Answer 14

hand and foot syndrome in Sickle cell

Question 15

in a child, normal conversion of red marrow to yellow marrow

Answer 15

epiphysis/apophysis followed by the diaphysis and finally the metaphysis

Question 16

Answer 16

fibrodysplasia ossificans progresive

aka Stone Man Disease is a congenital disorder, it’ll kill you, and it’s basically extensive heterotopic ossification in the soft tissues.

massive bizarre heterotopic ossification

Question 17

Answer 17

Sprengel deformity! Associated with Klippel-Feil