An unusual case of intrauterine symptomatic neonatal liver failure.

Abstract:

UNLABELLED:We present an unusual case of neonatal liver failure. Isolated ascites was diagnosed in a female fetus at week 34 gestational age upon routine ultrasound. In the 35th week of gestation a cesarean section was carried out after puncture of fetal ascites. After birth the patient showed symptoms and complications of acute liver failure with portal hypertension. High serum ferritin concentrations, MRI findings compatible with tissue iron overload and no evidence for infectious disease or inborn errors of metabolism suggested possible neonatal hemochromatosis (NH). HFE gene mutation analysis studies of the child and parents were negative. An anti-oxidative and iron chelating therapy was introduced, followed by clinical stabilisation of the newborn and normalisation of liver function. The liver biopsy at 4 month of age showed mild fibrosis with a few iron-loaded hepatocytes and macrophages. At 2 years of age the child was virtually healthy. CONCLUSION:The clinical course of our patient indicates that the pathological changes in the liver being associated with presumptive NH may be reversible when NH is diagnosed early and antioxidative and chelating therapy is immediately initiated.

journal_name

Klin Padiatr

journal_title

Klinische Padiatrie

authors

Keller M,Scholl-Buergi S,Sergi C,Theurl I,Weiss G,Unsinn KM,Trawöger R

doi

10.1055/s-2007-970591

subject

Has Abstract

pub_date

2008-01-01 00:00:00

pages

32-6

issue

1

eissn

0300-8630

issn

1439-3824

journal_volume

220

pub_type

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