Disparate Clinical Presentation of Neonatal Hemochromatosis in Twins

Abstract

ABSTRACT. Neonatal hemochromatosis (NH) is a rare disease of gestation that results in fetal liver injury and extrahepatic siderosis. The etiology of NH is not fully understood. However, the rate of recurrence of NH in the pregnancy after an affected one is ϳ80%. A spectrum of liver disease has been recognized, spanning from liver failure in the fetus or neonate to infants that survive with medical therapy. Here we report on 2 sets of fraternal twins, each set with a gross disparity in the severity of presentation: 1 infant with liver failure and the other nearly unaffected. These findings suggest a need to look carefully for subclinical disease in the siblings of patients with NH by using sensitive tests such as those for ferritin and ␣-fetoprotein. They also suggest that affected infants may be missed when using routine clinical testing, which would lead to the apparent rate of recurrence, understating the actual recurrence rate.

Neonatal Hemochromatosis

“…Affected twins may have different clinical presentations; with one twin severely affected and the other minimally so. 41 Interestingly, infants with NH often have persistent patency of the ductus venosus on ultrasound. 2,42 This finding is of unclear clinical significance.…”

Fetal and infantile hemochromatosis†

“…We have shown that twins may have disparate clinical findings, with one severely affected and the other minimally so. 25 It is one of the most commonly recognized causes of liver failure in the neonate. 26 The presenting findings are those of acute liver failure and usually multiorgan failure.…”

Therapeutic management of neonatal hemochromatosis: Report of four cases and literature review

“…Survival rates with this treatment have been generally reported as low. 4,6,15,16,19,20,24,29 In the patients studied by Murray and Kowdley 4 and Sigurdsson et al, 24 chelation-antioxidant therapy was not efficacious. Rodrigues et al 20 concluded in their study that this therapy did not appear to modify the outcome in NH, at least in severe cases, and recommended liver transplantation as the treatment of choice.…”