Journal
EUROPEAN JOURNAL OF MEDICAL GENETICS
Volume 53, Issue 1, Pages 25-28Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2009.10.004
Keywords
Martinez-Frias syndrome; Neonatal diabetes mellitus; Monogenic diabetes; Intestinal atresia; Neonatal hemochromatosis
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Funding
- Belgian Kids' Fund
- Erasme Fund
- European Union of the European Community
- Fonds National de la Recherche Scientifique (FNRS) - Fonds de la Recherche Scientifique Medicale (FRSM)
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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. (C) 2009 Elsevier Masson SAS. All rights reserved.
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