1: J Pediatr Gastroenterol Nutr 1998 Jan;26(1):85-9

Neonatal hemochromatosis: outcomes of pharmacologic and surgical therapies

Sigurdsson L, Reyes J, Kocoshis SA, Hansen TW, Rosh J, Knisely AS

Abstract
BACKGROUND: Neonatal hemochromatosis (NH), also known as perinatal
hemochromatosis or neonatal iron storage disease, is a disorder in fetuses and
newborn infants. A retrospective study was conducted to report management of
patients with NH. METHODS: Retrospective analysis was conducted by chart review
and by review of histologic material from patients with NH. RESULTS: Neonatal
hemochromatosis was diagnosed in 14 patients between 1985 and 1995. All were
considered for orthotopic liver transplantation (OLTX). From 1993 onward, all
patients were treated with an antioxidant-chelation "cocktail," consisting of
deferoxamine, vitamin E, N-acetylcysteine, selenium, and prostaglandin-E1. Of 6
patients with NH diagnosed before 1993, 4 underwent OLTX; only 1 is still alive.
Of 8 patients with NH diagnosed after 1993 and treated with the cocktail, 7
expired before OLTX. One stabilized on therapy, but having never recovered full
synthetic liver function, underwent OLTX and is now alive and well. CONCLUSION:
Neonatal hemochromatosis carries a grim prognosis; however, successful OLTX is
curative. The use of an antioxidant-chelation cocktail did not improve outcome
in the patients studied. Earlier (perinatal) diagnosis may be required for
optimal results. Further study of other interventions, including antenatal
diagnosis and earlier institution or modification of cocktail therapy appears
warranted