06.17.2013 - Inherited Metabolic Liver Disease

Question 1

Answer 1

Acholic stool suggestive of biliary atresia

Question 2

What disease are these features of?

Answer 2

All of these are features of Biliary atresia

Question 3

Answer 3

alpha1 antitrypsin deficiency - abnormally folded anti-trypsin globules accumulated in hepatocytes (the pink things)

Question 4

Answer 4

Biliary atresia

Question 5

Answer 5

Biliary cirrhosis in CF

Question 6

Answer 6

Cholangiogram Showing Biliary atresia

Question 7

Answer 7

Diagnosis of an alpha1 antitrypsin deficiency

Question 8

What is the name of this test? Is it diagnostic for biliary atresia?

Answer 8

Disida scintiscan - this can be used to eliminate biliary atresia, but it is never diagnostic

Question 9

Answer 9

Glycogen storage disease - note the large, pale hepatocytes, full of glycogen

Question 10

Answer 10

Glycogen storage disease - the dark speckles are glycogen

Question 11

Answer 11

Hemochromatosis

Question 12

Answer 12

Idiopathic neonatal hepatitis - giant cells

Question 13

What disease? What is this called?

Answer 13

Kaiser flescher ring, associated with Wilson disease

Question 14

Answer 14

Liver biopsy in hemochromatosis - trichrome stain shows significant fibrosis

Question 15

Answer 15

Neurological Manifestation of Wilsons Disease

Question 16

Answer 16

Niemann Pick disease - abnormal accumulation of lipids in reticuloendothelial cells

Question 17

Answer 17

Tyrosinemia - defect in tyrosine metabolism