Hereditary Hemochromatosis

Date:12/10/12

History

15 day old female with increasing abdominal distention.

Labs
Ferritin 7919

Family History
Sister who died in neonatal period from hepatic failure of unknown etiology.

Images

US.jpg
T2_Coronal.jpg
T2_Axial_Pancreas.jpg


Diagnosis

Hereditary Hemochromatosis

Explanation

Ultrasound demonstrates small liver with coarse surface and perihepatic fluid (ascites), findings consistent with cirrhosis.

MRI demonstrates diffuse T2 hypointensity consistent with iron deposition of hemochromatosis. Also note the prominence of the portal vein and large amount of ascites, consistent with cirrhosis. The T2 axial image demonstrates mild T2 hypointensity of the pancreas, which is only seen with hereditary hemochromatosis (as opposed to acquired).

Resources

van Bokhoven M, van Deursen C, Swinkels D. Diagnosis and Management of Hereditary Hemochromatosis. BMJ 2011 Jan 19; 342:c7251