Magnetic Resonance Imaging Findings in Neonatal Hemochromatosis.

Background: There are limited data on utility of magnetic resonance imaging (MRI) in the assessment of suspected neonatal hemochromatosis (NH).

Objectives: The aim of the study was to present our experience with utilization of multi-echo sequence MRI technique in the evaluation of NH and to compare MRI findings in infants with and without NH.

Methods: MRI performed for suspected NH were retrospectively reviewed to note the presence and severity of iron deposition (ID) in liver, spleen, pancreas, and kidneys on multi-echo sequences. Findings were compared in infants with and without NH.

Results: Of 20 infants (9 boys and 11 girls; median age of 12.5 days) included in the study, 7 of 20 had NH and 13 of 20 were assigned to the non-NH group. Higher degree of pancreatic ID was seen in the NH group (P = 0.001) with 4 of 7 evaluable pancreas showing moderate-to-severe degree and 1 of 7 showing mild degree of ID whereas none of the 13 infants in non-NH group showed moderate or severe degree of pancreatic ID. Even though the severity of hepatic ID was higher in NH group (P = 0.033), variable severity of hepatic ID was seen in both groups with most infants in both groups showing moderate-to-severe degree of ID. The severity of splenic ID was not particularly associated with any group (P = 0.774) but there was no moderate or severe degree of ID in NH. Renal ID was seen in two infants in non-NH group.

Conclusions: A moderate-to-severe degree of pancreatic ID seen on MRI tends to be associated with NH and should be sought to establish a timely diagnosis of NH. Presence and severity of hepatic ID cannot be used for differentiation of NH from other causes of neonatal liver failure.