Fatal neonatal hemochromatosis as a rare cause of intrauterine growth restriction

• Published in: Ultraschall in der Medizin - European Journal of Ultrasound
• Main Authors: Schneider, U, Muth, I, Wieland, T, Voigt, C, Doerfel, C, Gajda, M, Mentzel, HJ, Proquitte, H
• Format: Conference Proceeding
• Language: English
• Published: 18.08.2016
• ISSN: 0172-4614; 1438-8782
• DOI: 10.1055/s-0036-1587876

Neonatal hemochromoatosis (NHC) is characterized by severe liver disease in the newborn accompanied by extrahepatic siderosis. This Gestational Alloimmunic Liver Disease (GALD) is resulting from the placental transfer of maternal IgG antibodies against fetal hepatocytes. Diagnosis is often only made post mortem for the severe and unexpected occurrence [1]. A 27 y east-african patient (GIII/PII, 2 healthy children born at term in 2003/SVD and 2012/CS for cephalopelvic disproportion) was admitted for anhydramnios and symmetric IUGR (EFW 1020 g/< 3 rd perc.) at 31+0 wksGA. PROM could be excluded biochemically; sonographic assessment revealed an increased cardiothoracic ratio and peak systolic velocity in the MCA, changing over time, with otherwise normal sonoanatomy and fetomaternal Doppler findings. The patient has been known for severe anemia since 15 wksGA and presented with an unexplained increase in maternal CRP serum level. Under the suspicion of occult PROM steroids were given accompanied by antibiotic coverage and delivery was performed at 32+0 wksGA. A preterm, asymmetrically dysmature, severely anemic boy was delivered in intact membranes (1190 g, 39 cm). Cardiorespiratory adaptation was impaired (APGAR 1/8/8, pHUA 7.33). The infant presented with peripheral edema, reduced muscular tone and deranged hematologic and plasmatic coagulation parameters. Over the next days the clinical situation deteriorated despite neonatal intensive care from primary liver leading into fatal multi-organ failure after 7 days. Laboratory tests revealed massive iron overload (ferritin 5300 µg/l; transferrin 0.6 g/l, transferrin saturation 100%). The suspected diagnosis of NHC was eventually confirmed on post-mortem liver biopsy. The risk of recurrence is up to 90%. Therefore, identification of GALD is of utmost importance since these patients benefit from therapy with immunoglobulins at narrow intervals during a consecutive pregnancy and from preterm delivery [1,2]. [1] Feldman AG, Whithington PF. J Clin Exp Hepatol, 2013;3:313 – 20. [2] Lopriore E et al. Prenat Diagn, 2013;33:1221 – 5.