title: Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn.
abstract: Neonatal hemochromatosis is a heterogeneous disorder of iron metabolism characterized by hepatic failure and marked iron accumulation in liver and extrahepatic tissues. Autosomal recessive transmission is found in most cases. Neonatal hemochromatosis shares cellular features with the adult disease but is clinically and genetically distinct, the causal gene(s) being presently unknown. We report on a newborn from consanguineous parents who presented with multiple congenital anomalies and neonatal hemochromatosis. The syndrome consisted of intra-uterine growth retardation, intestinal atresia, gallbladder aplasia and diabetes mellitus, and fitted with the diagnosis of Martinez-Frias syndrome, a very rare autosomal recessive phenotype, the gene of which remains to be identified. We suggest that neonatal hemochromatosis may be part of the Martinez-Frias syndrome. Molecular analyses in this and other reported patients with the Martinez-Frias syndrome should shed light on gut development and iron metabolism.
authors.affiliation: Neonatal Intensive Care Unit, Erasme Hospital, Université Libre de Bruxelles, Brussels, Belgium.
authors.forename: Dana
authors.initials: D
authors.lastname: Martinovici
authors.forename: Valérie
authors.initials: V
authors.lastname: Ransy
authors.forename: Serge
authors.initials: S
authors.lastname: Vanden Eijnden
authors.forename: Céline
authors.initials: C
authors.lastname: Ridremont
authors.forename: Anne
authors.initials: A
authors.lastname: Pardou
authors.forename: Marie
authors.initials: M
authors.lastname: Cassart
authors.forename: Freddy
authors.initials: F
authors.lastname: Avni
authors.forename: Catherine
authors.initials: C
authors.lastname: Donner
authors.forename: Pierre
authors.initials: P
authors.lastname: Lingier
authors.forename: Anne
authors.initials: A
authors.lastname: Mathieu
authors.forename: Béatrice
authors.initials: B
authors.lastname: Gulbis
authors.forename: Véronique
authors.initials: V
authors.lastname: De Brouckère
authors.forename: Miriam
authors.initials: M
authors.lastname: Cnop
authors.forename: Marc
authors.initials: M
authors.lastname: Abramowicz
authors.forename: Julie
authors.initials: J
authors.lastname: Désir
mesh_terms: D000328:Adult; D003241:Consanguinity; D003920:Diabetes Mellitus / Q000235:genetics*; D017809:Fatal Outcome; D006432:Hemochromatosis / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D007231:Infant, Newborn; D007409:Intestinal Atresia / Q000235:genetics*; D019189:Iron Metabolism Disorders / Q000235:genetics; D008099:Liver / Q000378:metabolism; D008297:Male; D010375:Pedigree; D013577:Syndrome