caa a22 4500 475784790 CHVBK 20180406123655.0 cr unu---uuuuu 170329e20000601xx s 000 0 eng 10.1007/s004310051319 doi (NATIONALLICENCE)springer-10.1007/s004310051319 Cutaneous porphyria in a neonate with tyrosinaemia type 1 [Elektronische Daten] [Serge Vanden Eijnden, Denise Blum, Anne Clercx, Philippe Goyens, Corine De Laet, Esther Vamos] A term infant born to consanguineous parents presented at birth with hypoglycaemia, thrombocytopenia, coagulopathy and hyperbilirubinaemia associated with polycythaemia due to delayed cord clamping. Despite phototherapy and correction of polycythaemia by partial exchange transfusion, coagulopathy, hypoglycaemia and conjugated hyperbilirubinaemia persisted, suggesting hepatic failure. Metabolic work-up led to the diagnosis of tyrosinaemia type 1 on day 4. Two - (2-nitro-4-trifluoromethylbenzoyl) - 1,3 cyclohexanedione (NTBC) treatment, started on day 5, resulted in progressive clinical improvement and unambiguous biochemical response. Severe skin purpuric lesions occurred in areas exposed to phototherapy. These resolved slowly after its discontinuation. Urine analysis sampled just before and 6 days after starting NTBC treatment showed high levels of type 1 coproporphyrin isomers. Such findings do not seem directly related to tyrosinaemia type 1 where succinylacetone inhibits δ-aminolevulinic acid (δ-ALA) dehydratase and where the accumulation of δ-ALA results in neurotoxicity without photosensitivity. Conclusion We describe a cutaneous form of porphyria in a neonate presenting with severe liver failure due to tyrosinaemia type 1. This porphyria is tentatively attributed to a secondary accumulation of coproporphyrins due to cholestasis, as reported in the bronze baby syndrome and recently described in neonates with purpuric phototherapy-induced eruption, rather than to a primary defect of porphyrin metabolism. The hypothesis of a direct effect of tyrosinaemia type 1 on porphyrin excretion is also discussed. Springer-Verlag Berlin Heidelberg, 2000 Key words Photosensitivity nationallicence Porphyria nationallicence Tyrosinaemia type 1 nationallicence NTBC nationallicence Bronze baby syndrome nationallicence Vanden Eijnden Serge Neonatal Intensive Care Unit, University Hospital for Children Queen Fabiola, Université Libre de Bruxelles (U.L.B.), 15 av. J.J.Crocq, 1020 Brussels, Belgium e-mail: svdeijnd@ulb.ac.be Tel.: +32-2-4773250, Fax: +32-2-4773295, BE aut Blum Denise Neonatal Intensive Care Unit, University Hospital for Children Queen Fabiola, Université Libre de Bruxelles (U.L.B.), 15 av. J.J.Crocq, 1020 Brussels, Belgium e-mail: svdeijnd@ulb.ac.be Tel.: +32-2-4773250, Fax: +32-2-4773295, BE aut Clercx Anne Neonatal Intensive Care Unit, University Hospital for Children Queen Fabiola, Université Libre de Bruxelles (U.L.B.), 15 av. J.J.Crocq, 1020 Brussels, Belgium e-mail: svdeijnd@ulb.ac.be Tel.: +32-2-4773250, Fax: +32-2-4773295, BE aut Goyens Philippe Department of Paediatrics, University Hospital for Children Queen Fabiola, Brussels, Belgium, BE aut De Laet Corine Department of Medical Genetics, University Hospital for Children Queen Fabiola, Brussels, Belgium, BE aut Vamos Esther Department of Medical Genetics, University Hospital for Children Queen Fabiola, Brussels, Belgium, BE aut https://doi.org/10.1007/s004310051319 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s004310051319 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Vanden Eijnden Serge Neonatal Intensive Care Unit, University Hospital for Children Queen Fabiola, Université Libre de Bruxelles (U.L.B.), 15 av. J.J.Crocq, 1020 Brussels, Belgium e-mail: svdeijnd@ulb.ac.be Tel.: +32-2-4773250, Fax: +32-2-4773295, BE aut NATIONALLICENCE 700 1- Blum Denise Neonatal Intensive Care Unit, University Hospital for Children Queen Fabiola, Université Libre de Bruxelles (U.L.B.), 15 av. J.J.Crocq, 1020 Brussels, Belgium e-mail: svdeijnd@ulb.ac.be Tel.: +32-2-4773250, Fax: +32-2-4773295, BE aut NATIONALLICENCE 700 1- Clercx Anne Neonatal Intensive Care Unit, University Hospital for Children Queen Fabiola, Université Libre de Bruxelles (U.L.B.), 15 av. J.J.Crocq, 1020 Brussels, Belgium e-mail: svdeijnd@ulb.ac.be Tel.: +32-2-4773250, Fax: +32-2-4773295, BE aut NATIONALLICENCE 700 1- Goyens Philippe Department of Paediatrics, University Hospital for Children Queen Fabiola, Brussels, Belgium, BE aut NATIONALLICENCE 700 1- De Laet Corine Department of Medical Genetics, University Hospital for Children Queen Fabiola, Brussels, Belgium, BE aut NATIONALLICENCE 700 1- Vamos Esther Department of Medical Genetics, University Hospital for Children Queen Fabiola, Brussels, Belgium, BE aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer