Neonatal hemochromatosis and patent ductus venosus: clinical course and diagnostic pitfalls.
BACKGROUND
Neonatal hemochromatosis is a rare metabolic disorder characterized by excessive iron deposition within the liver leading to hepatic failure and portal hypertension.


OBJECTIVE
We describe the clinical course and imaging findings in three infants with neonatal hemochromatosis associated with patent ductus venosus. We paid special attention to the diagnostic challenges encountered in these patients in order to emphasize some of the potential diagnostic pitfalls.


METHODS
We conducted a comprehensive search of our radiology database of the last 10 years (1999-2008) for the keywords "neonatal hemochromatosis." Medical records and imaging studies of various modalities were reviewed.


RESULTS
Three neonates were found to have neonatal hemochromatosis; all of them were associated with patent ductus venosus. Two of these patients were referred to our tertiary center for embolization of an inaccurately diagnosed hepatic vascular malformation. Two patients underwent successful liver transplantation and one died shortly after referral.


CONCLUSIONS
The awareness and inclusion of neonatal hemochromatosis in the differential diagnosis of newborns with liver failure and patent ductus venosus has critical treatment implications.
Tsai
Andy
A
Department of Radiology, Children's Hospital Boston and Harvard Medical School, Boston, MA, USA.
Paltiel
Harriet J
HJ
Sena
Laureen M
LM
Kim
Heung Bae
HB
Fishman
Steven J
SJ
Alomari
Ahmad I
AI
D003937:Diagnosis, Differential; D003952:Diagnostic Imaging / Q000379:methods*; D005260:Female; D006432:Hemochromatosis / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011169:Portal Vein / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D011859:Radiography