https://www.ncbi.nlm.nih.gov/pubmed/29287003 Neonatal hemochromatosis
J Pediatr Gastroenterol Nutr. 2017 Dec 28. doi: 10.1097/MPG.0000000000001880. [Epub ahead of print]

Magnetic Resonance Imaging Findings in Neonatal Hemochromatosis.
Alenezi K, Kamath BM, Siddiqui I, Tomlinson C, Chavhan GB.

Abstract

BACKGROUND:
There are limited data on utility of MRI in the assessment of suspected neonatal hemochromatosis (NH).

OBJECTIVES:
To present our experience with utilization of multi-echo sequences 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, 7/20 had NH and 13/20 were assigned to the non-NH group. Higher degree of pancreatic ID was seen in the NH group (p = 0.001) with 4/7 evaluable pancreas showing moderate to severe degree and 1/7 showing mild degree of ID while 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 NH from other causes of neonatal liver failure.